Prefix(:=) Prefix(owl:=) Prefix(rdf:=) Prefix(xml:=) Prefix(xsd:=) Prefix(rdfs:=) Ontology( Annotation( "--RGD OBO FILE GENERATOR -- build 2023-05-30 --"^^xsd:string) Annotation( "22:03:2025 20:13"^^xsd:string) Annotation( "rgd_disease_ontology"^^xsd:string) Annotation( "1.2"^^xsd:string) Annotation( "rgd"^^xsd:string) Annotation(rdfs:comment "In January of 2018, RGD transitioned from use of the Comparative Toxicogenomics Database's \"MEDIC\" vocabulary, based on a combination of the Medical Subject Headings (MeSH) and Online Mendelian Inheritance in Man (OMIM) disease vocabularies, to the use of the Human Disease Ontology (DO, see http://bioportal.bioontology.org/ontologies/DOID) as the basis of the disease ontology in use at RGD. As found on the RGD website and in RGD's ftp files, the DO has been supplemented with additional terms needed for curation at RGD to form the \"RGD Disease Ontology (RDO)\". An up-to-date copy of this ontology file is generated automatically from the RGD database and posted to the RGD ftp site at ftp://ftp.rgd.mcw.edu/pub/ontology/disease/ on a daily basis. Ontologies with ids in the format \"DOID:9xxxxxx\" have been added by RGD curators. 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(ObjectProperty()) Declaration(ObjectProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty(rdfs:comment)) Declaration(AnnotationProperty(rdfs:label)) ############################ # Annotation Properties ############################ # Annotation Property: (definition) AnnotationAssertion(rdfs:label "definition"^^xsd:string) # Annotation Property: () AnnotationAssertion(rdfs:comment "RGD_JBrowse_slim"^^xsd:string) SubAnnotationPropertyOf( ) # Annotation Property: (subset_property) AnnotationAssertion(rdfs:label "subset_property"^^xsd:string) # Annotation Property: (has_alternative_id) AnnotationAssertion(rdfs:label "has_alternative_id"^^xsd:string) # Annotation Property: (has_broad_synonym) AnnotationAssertion(rdfs:label "has_broad_synonym"^^xsd:string) # Annotation Property: (database_cross_reference) AnnotationAssertion(rdfs:label "database_cross_reference"^^xsd:string) # Annotation Property: (has_exact_synonym) AnnotationAssertion(rdfs:label "has_exact_synonym"^^xsd:string) # Annotation Property: (has_narrow_synonym) AnnotationAssertion(rdfs:label "has_narrow_synonym"^^xsd:string) # Annotation Property: (has_obo_format_version) AnnotationAssertion(rdfs:label "has_obo_format_version"^^xsd:string) # Annotation Property: (has_obo_namespace) AnnotationAssertion(rdfs:label "has_obo_namespace"^^xsd:string) # Annotation Property: (has_related_synonym) AnnotationAssertion(rdfs:label "has_related_synonym"^^xsd:string) # Annotation Property: (in_subset) AnnotationAssertion(rdfs:label "in_subset"^^xsd:string) ############################ # Classes ############################ # Class: (angiosarcoma) AnnotationAssertion(Annotation( "PMID:23327728"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Hemangiosarcoma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Angiosarcoma"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088"^^xsd:string) "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO)"^^xsd:string) AnnotationAssertion( "vascular sarcoma"^^xsd:string) AnnotationAssertion( "EFO:0003967"^^xsd:string) AnnotationAssertion( "EFO:0003968"^^xsd:string) AnnotationAssertion( "ICDO:9120/3"^^xsd:string) AnnotationAssertion( "MESH:D006394"^^xsd:string) AnnotationAssertion( "NCI:C122783"^^xsd:string) AnnotationAssertion( "NCI:C24016"^^xsd:string) AnnotationAssertion( "NCI:C3088"^^xsd:string) AnnotationAssertion( "NCI:C9275"^^xsd:string) AnnotationAssertion( "angiosarcomas"^^xsd:string) AnnotationAssertion( "hemangiosarcoma"^^xsd:string) AnnotationAssertion( "hemangiosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0001816"^^xsd:string) AnnotationAssertion(rdfs:label "angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pterygium) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pterygium_(conjunctiva)"^^xsd:string) "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000678"^^xsd:string) AnnotationAssertion( "MESH:D011625"^^xsd:string) AnnotationAssertion( "NCI:C133744"^^xsd:string) AnnotationAssertion( "pterygiums"^^xsd:string) AnnotationAssertion( "surfer's eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0002116"^^xsd:string) AnnotationAssertion(rdfs:label "pterygium"^^xsd:string) SubClassOf( ) # Class: (disease of metabolism) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK22259/"^^xsd:string) "A disease that involves errors in metabolic processes of building or degradation of molecules. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000589"^^xsd:string) AnnotationAssertion( "EFO:0011054"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.9"^^xsd:string) AnnotationAssertion( "ICD9CM:277.9"^^xsd:string) AnnotationAssertion( "MESH:D008659"^^xsd:string) AnnotationAssertion( "MONDO:0005066"^^xsd:string) AnnotationAssertion( "NCI:C3235"^^xsd:string) AnnotationAssertion( "metabolic disease"^^xsd:string) AnnotationAssertion( "metabolic diseases"^^xsd:string) AnnotationAssertion( "thesaurismoses"^^xsd:string) AnnotationAssertion( "thesaurismosis"^^xsd:string) AnnotationAssertion( "metabolic toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0014667"^^xsd:string) AnnotationAssertion(rdfs:label "disease of metabolism"^^xsd:string) SubClassOf( ) # Class: (shrimp allergy) AnnotationAssertion(Annotation( "PMID:20471069"^^xsd:string) "A crustacean allergy that has_allergic_trigger shrimp. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040001"^^xsd:string) AnnotationAssertion(rdfs:label "shrimp allergy"^^xsd:string) SubClassOf( ) # Class: (aspirin allergy) AnnotationAssertion(Annotation( "PMID:2468301"^^xsd:string) "A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO)"^^xsd:string) AnnotationAssertion( "ASA allergy"^^xsd:string) AnnotationAssertion( "acetylsalicylic acid allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040002"^^xsd:string) AnnotationAssertion(rdfs:label "aspirin allergy"^^xsd:string) SubClassOf( ) # Class: (benzylpenicillin allergy) AnnotationAssertion(Annotation( "PMID:14483916"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO)"^^xsd:string) AnnotationAssertion( "benzyl penicillin allergy"^^xsd:string) AnnotationAssertion( "penicillin G allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040003"^^xsd:string) AnnotationAssertion(rdfs:label "benzylpenicillin allergy"^^xsd:string) SubClassOf( ) # Class: (amoxicillin allergy) AnnotationAssertion(Annotation( "PMID:11746950"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040004"^^xsd:string) AnnotationAssertion(rdfs:label "amoxicillin allergy"^^xsd:string) SubClassOf( ) # Class: (ceftriaxone allergy) AnnotationAssertion(Annotation( "PMID:12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO)"^^xsd:string) AnnotationAssertion( "rocephin allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040005"^^xsd:string) AnnotationAssertion(rdfs:label "ceftriaxone allergy"^^xsd:string) SubClassOf( ) # Class: (carbamazepine allergy) AnnotationAssertion(Annotation( "PMID:7602118"^^xsd:string) "A drug allergy that has_allergic_trigger carbamazepine. (DO)"^^xsd:string) AnnotationAssertion( "carbamazepen allergy"^^xsd:string) AnnotationAssertion( "tegretol allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040006"^^xsd:string) AnnotationAssertion(rdfs:label "carbamazepine allergy"^^xsd:string) SubClassOf( ) # Class: (abacavir allergy) AnnotationAssertion(Annotation( "PMID:25674793"^^xsd:string) "A drug allergy that has_allergic_trigger abacavir. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007813"^^xsd:string) AnnotationAssertion( "MIM:142830"^^xsd:string) AnnotationAssertion( "ABC allergy"^^xsd:string) AnnotationAssertion( "Abacavir Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0040007"^^xsd:string) AnnotationAssertion(rdfs:label "abacavir allergy"^^xsd:string) SubClassOf( ) # Class: (isoniazide allergy) AnnotationAssertion(Annotation( "PMID:445303"^^xsd:string) "A drug allergy that has_allergic_trigger isoniazide. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Z88.1"^^xsd:string) AnnotationAssertion( "INH allergy"^^xsd:string) AnnotationAssertion( "isonicotinylhydrazide allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040008"^^xsd:string) AnnotationAssertion(rdfs:label "isoniazide allergy"^^xsd:string) SubClassOf( ) # Class: (lidocaine allergy) AnnotationAssertion(Annotation( "PMID:9013953"^^xsd:string) "A drug allergy that has_allergic_trigger lidocaine. (DO)"^^xsd:string) AnnotationAssertion( "lidoderm allergy"^^xsd:string) AnnotationAssertion( "lignocaine allergy"^^xsd:string) AnnotationAssertion( "xylocaine allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040009"^^xsd:string) AnnotationAssertion(rdfs:label "lidocaine allergy"^^xsd:string) SubClassOf( ) # Class: (mepivacaine allergy) AnnotationAssertion(Annotation( "PMID:9989796"^^xsd:string) "A drug allergy that has_allergic_trigger mepivacaine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Z88.4"^^xsd:string) AnnotationAssertion( "carbocaine allergy"^^xsd:string) AnnotationAssertion( "polocaine allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040010"^^xsd:string) AnnotationAssertion(rdfs:label "mepivacaine allergy"^^xsd:string) SubClassOf( ) # Class: (phenobarbital allergy) AnnotationAssertion(Annotation( "PMID:11994495"^^xsd:string) "A drug allergy that has_allergic_trigger phenobarbital. (DO)"^^xsd:string) AnnotationAssertion( "luminal allergy"^^xsd:string) AnnotationAssertion( "phenobarbitol allergy"^^xsd:string) AnnotationAssertion( "phenobarbitone allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040011"^^xsd:string) AnnotationAssertion(rdfs:label "phenobarbital allergy"^^xsd:string) SubClassOf( ) # Class: (phenytoin allergy) AnnotationAssertion(Annotation( "PMID:7602118"^^xsd:string) "A drug allergy that has_allergic_trigger phenytoin. (DO)"^^xsd:string) AnnotationAssertion( "dilantin allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040012"^^xsd:string) AnnotationAssertion(rdfs:label "phenytoin allergy"^^xsd:string) SubClassOf( ) # Class: (ranitidine allergy) AnnotationAssertion(Annotation( "PMID:7782125"^^xsd:string) "A drug allergy that has_allergic_trigger ranitidine. (DO)"^^xsd:string) AnnotationAssertion( "zantac allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040013"^^xsd:string) AnnotationAssertion(rdfs:label "ranitidine allergy"^^xsd:string) SubClassOf( ) # Class: (corticosteroid allergy) AnnotationAssertion(Annotation( "PMID:2265088"^^xsd:string) "A drug allergy that has_allergic_trigger corticosteroid. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040014"^^xsd:string) AnnotationAssertion(rdfs:label "corticosteroid allergy"^^xsd:string) SubClassOf( ) # Class: (sulfonamide allergy) AnnotationAssertion(Annotation( "PMID:2434548"^^xsd:string) "A drug allergy that has_allergic_trigger sulfonamide. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Z88.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040015"^^xsd:string) AnnotationAssertion(rdfs:label "sulfonamide allergy"^^xsd:string) SubClassOf( ) # Class: (sulfamethoxazole allergy) AnnotationAssertion(Annotation( "PMID:7602118"^^xsd:string) "A drug allergy that has_allergic_trigger sulfamethoxazole. (DO)"^^xsd:string) AnnotationAssertion( "SMX allergy"^^xsd:string) AnnotationAssertion( "SMZ allergy"^^xsd:string) AnnotationAssertion( "sulphamethoxazole allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040016"^^xsd:string) AnnotationAssertion(rdfs:label "sulfamethoxazole allergy"^^xsd:string) SubClassOf( ) # Class: (suprofen allergy) AnnotationAssertion(Annotation( "PMID:509935"^^xsd:string) "A drug allergy that has_allergic_trigger suprofen. (DO)"^^xsd:string) AnnotationAssertion( "Profenal allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040017"^^xsd:string) AnnotationAssertion(rdfs:label "suprofen allergy"^^xsd:string) SubClassOf( ) # Class: (thiopental allergy) AnnotationAssertion(Annotation( "PMID:2215478"^^xsd:string) "A drug allergy that has_allergic_trigger thiopental. (DO)"^^xsd:string) AnnotationAssertion( "penthiobarbital allergy"^^xsd:string) AnnotationAssertion( "pentothiobarbital allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040018"^^xsd:string) AnnotationAssertion(rdfs:label "thiopental allergy"^^xsd:string) SubClassOf( ) # Class: (D-mannitol allergy) AnnotationAssertion(Annotation( "PMID:15479277"^^xsd:string) "A drug allergy that has_allergic_trigger D-mannitol. (DO)"^^xsd:string) AnnotationAssertion( "mannitol allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040019"^^xsd:string) AnnotationAssertion(rdfs:label "D-mannitol allergy"^^xsd:string) SubClassOf( ) # Class: (cefotaxime allergy) AnnotationAssertion(Annotation( "PMID:12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040020"^^xsd:string) AnnotationAssertion(rdfs:label "cefotaxime allergy"^^xsd:string) SubClassOf( ) # Class: (cephalosporin allergy) AnnotationAssertion(Annotation( "PMID:2083978"^^xsd:string) "A drug allergy that has_allergic_trigger cephalosporin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040021"^^xsd:string) AnnotationAssertion(rdfs:label "cephalosporin allergy"^^xsd:string) SubClassOf( ) # Class: (amodiaquine allergy) AnnotationAssertion(Annotation( "PMID:1959977"^^xsd:string) "A drug allergy that has_allergic_trigger amodiaquine. (DO)"^^xsd:string) AnnotationAssertion( "Camoquin allergy"^^xsd:string) AnnotationAssertion( "Flavoquine allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040022"^^xsd:string) AnnotationAssertion(rdfs:label "amodiaquine allergy"^^xsd:string) SubClassOf( ) # Class: (cefaclor allergy) AnnotationAssertion(Annotation( "PMID:12569987"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefaclor. (DO)"^^xsd:string) AnnotationAssertion( "ceclor allergy"^^xsd:string) AnnotationAssertion( "cephaclor allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040023"^^xsd:string) AnnotationAssertion(rdfs:label "cefaclor allergy"^^xsd:string) SubClassOf( ) # Class: (ceftazidime allergy) AnnotationAssertion(Annotation( "PMID:12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO)"^^xsd:string) AnnotationAssertion( "Fortaz allergy"^^xsd:string) AnnotationAssertion( "Tazicef allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040024"^^xsd:string) AnnotationAssertion(rdfs:label "ceftazidime allergy"^^xsd:string) SubClassOf( ) # Class: (cefuroxime allergy) AnnotationAssertion(Annotation( "PMID:12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO)"^^xsd:string) AnnotationAssertion( "Zinacef allergy"^^xsd:string) AnnotationAssertion( "cephuroxime allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040025"^^xsd:string) AnnotationAssertion(rdfs:label "cefuroxime allergy"^^xsd:string) SubClassOf( ) # Class: (chlorhexidine allergy) AnnotationAssertion(Annotation( "PMID:10848923"^^xsd:string) "A drug allergy that has_allergic_trigger chlorhexidine. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040026"^^xsd:string) AnnotationAssertion(rdfs:label "chlorhexidine allergy"^^xsd:string) SubClassOf( ) # Class: (cyclophosphamide allergy) AnnotationAssertion(Annotation( "PMID:8024619"^^xsd:string) "A drug allergy that has_allergic_trigger cyclophosphamide. (DO)"^^xsd:string) AnnotationAssertion( "cytophosphane allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040027"^^xsd:string) AnnotationAssertion(rdfs:label "cyclophosphamide allergy"^^xsd:string) SubClassOf( ) # Class: (succinylcholine allergy) AnnotationAssertion(Annotation( "PMID:2410473"^^xsd:string) "A drug allergy that has_allergic_trigger succinylcholine. (DO)"^^xsd:string) AnnotationAssertion( "dicholine succinate allergy"^^xsd:string) AnnotationAssertion( "succinocholine allergy"^^xsd:string) AnnotationAssertion( "sux allergy"^^xsd:string) AnnotationAssertion( "suxamethonium allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040028"^^xsd:string) AnnotationAssertion(rdfs:label "succinylcholine allergy"^^xsd:string) SubClassOf( ) # Class: (trimethoprim allergy) AnnotationAssertion(Annotation( "PMID:3377143"^^xsd:string) "A drug allergy that has_allergic_trigger trimethoprim. (DO)"^^xsd:string) AnnotationAssertion( "Primsol allergy"^^xsd:string) AnnotationAssertion( "TMP allergy"^^xsd:string) AnnotationAssertion( "proloprim allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040029"^^xsd:string) AnnotationAssertion(rdfs:label "trimethoprim allergy"^^xsd:string) SubClassOf( ) # Class: (cefixime allergy) AnnotationAssertion(Annotation( "PMID:16867046"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefixime. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040030"^^xsd:string) AnnotationAssertion(rdfs:label "cefixime allergy"^^xsd:string) SubClassOf( ) # Class: (diclofenac allergy) AnnotationAssertion(Annotation( "PMID:21060839"^^xsd:string) "A drug allergy that has_allergic_trigger diclofenac. (DO)"^^xsd:string) AnnotationAssertion( "Voltaren allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040031"^^xsd:string) AnnotationAssertion(rdfs:label "diclofenac allergy"^^xsd:string) SubClassOf( ) # Class: (carbapenem allergy) AnnotationAssertion(Annotation( "PMID:2457043"^^xsd:string) "A drug allergy that has_allergic_trigger carbapenems. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040032"^^xsd:string) AnnotationAssertion(rdfs:label "carbapenem allergy"^^xsd:string) SubClassOf( ) # Class: (piperacillin allergy) AnnotationAssertion(Annotation( "PMID:21532862"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger piperacillin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040033"^^xsd:string) AnnotationAssertion(rdfs:label "piperacillin allergy"^^xsd:string) SubClassOf( ) # Class: (rocuronium allergy) AnnotationAssertion(Annotation( "PMID:17667569"^^xsd:string) "A drug allergy that has_allergic_trigger rocuronium. (DO)"^^xsd:string) AnnotationAssertion( "Esmeron allergy"^^xsd:string) AnnotationAssertion( "Zemuron allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040034"^^xsd:string) AnnotationAssertion(rdfs:label "rocuronium allergy"^^xsd:string) SubClassOf( ) # Class: (sulfasalazine allergy) AnnotationAssertion(Annotation( "PMID:2434548"^^xsd:string) "A drug allergy that has_allergic_trigger sulfasalazine. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040035"^^xsd:string) AnnotationAssertion(rdfs:label "sulfasalazine allergy"^^xsd:string) SubClassOf( ) # Class: (tubocurarine allergy) AnnotationAssertion(Annotation( "PMID:2215478"^^xsd:string) "A drug allergy that has_allergic_trigger tubocurarine. (DO)"^^xsd:string) AnnotationAssertion( "DTC allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040036"^^xsd:string) AnnotationAssertion(rdfs:label "tubocurarine allergy"^^xsd:string) SubClassOf( ) # Class: (aztreonam allergy) AnnotationAssertion(Annotation( "PMID:1991925"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger aztreonam. (DO)"^^xsd:string) AnnotationAssertion( "Azactam allergy"^^xsd:string) AnnotationAssertion( "Primbactam allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040037"^^xsd:string) AnnotationAssertion(rdfs:label "aztreonam allergy"^^xsd:string) SubClassOf( ) # Class: (meropenem allergy) AnnotationAssertion(Annotation( "PMID:23668298"^^xsd:string) "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO)"^^xsd:string) AnnotationAssertion( "Merrem allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040038"^^xsd:string) AnnotationAssertion(rdfs:label "meropenem allergy"^^xsd:string) SubClassOf( ) # Class: (hexamethylene diisocyanate allergic asthma) AnnotationAssertion(Annotation( "PMID:8711735"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to HDI"^^xsd:string) AnnotationAssertion( "allergic asthma to HMDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040040"^^xsd:string) AnnotationAssertion(rdfs:label "hexamethylene diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (isocyanates allergic asthma) AnnotationAssertion(Annotation( "PMID:3349596"^^xsd:string) "An allergic asthma that has_allergic_trigger isocyanates. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040041"^^xsd:string) AnnotationAssertion(rdfs:label "isocyanates allergic asthma"^^xsd:string) SubClassOf( ) # Class: (diphenylmethane-4,4'-diisocyanate allergic asthma) AnnotationAssertion(Annotation( "PMID:8711735"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to MDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040042"^^xsd:string) AnnotationAssertion(rdfs:label "diphenylmethane-4,4'-diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (toluene meta-diisocyanate allergic asthma) AnnotationAssertion(Annotation( "PMID:11289402"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to TDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040043"^^xsd:string) AnnotationAssertion(rdfs:label "toluene meta-diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (methyl isocyanate allergic asthma) AnnotationAssertion(Annotation( "PMID:3622432"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to MIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040044"^^xsd:string) AnnotationAssertion(rdfs:label "methyl isocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (nickel allergic asthma) AnnotationAssertion(Annotation( "PMID:6691936"^^xsd:string) "An allergic asthma that has_allergic_trigger nickel atom. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to Ni"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040045"^^xsd:string) AnnotationAssertion(rdfs:label "nickel allergic asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nickel allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:7671317"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005320"^^xsd:string) AnnotationAssertion( "ICD10CM:L23.0"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to Ni"^^xsd:string) AnnotationAssertion( "contact dermatitis due to nickel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040046"^^xsd:string) AnnotationAssertion(rdfs:label "nickel allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trimellitic anhydride allergic asthma) AnnotationAssertion(Annotation( "PMID:6643876"^^xsd:string) "An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to TMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040047"^^xsd:string) AnnotationAssertion(rdfs:label "trimellitic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (phthalic anhydride allergic asthma) AnnotationAssertion(Annotation( "PMID:3711550"^^xsd:string) "An allergic asthma that has_allergic_trigger phthalic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040048"^^xsd:string) AnnotationAssertion(rdfs:label "phthalic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (maleic anhydride allergic asthma) AnnotationAssertion(Annotation( "PMID:3711550"^^xsd:string) "An allergic asthma that has_allergic_trigger maleic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to MA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040049"^^xsd:string) AnnotationAssertion(rdfs:label "maleic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (tetrachlorophthalic anhydride allergic asthma) AnnotationAssertion(Annotation( "PMID:3711550"^^xsd:string) "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040050"^^xsd:string) AnnotationAssertion(rdfs:label "tetrachlorophthalic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (hexahydrophthalic anhydride allergic asthma) AnnotationAssertion(Annotation( "PMID:4008795"^^xsd:string) "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to HHPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040051"^^xsd:string) AnnotationAssertion(rdfs:label "hexahydrophthalic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (diphenylmethane-4,4'-diisocyanate allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:6296214"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to MDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040052"^^xsd:string) AnnotationAssertion(rdfs:label "diphenylmethane-4,4'-diisocyanate allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (cobalt allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:8566016"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to Co"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040053"^^xsd:string) AnnotationAssertion(rdfs:label "cobalt allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cobalt allergic asthma) AnnotationAssertion(Annotation( "PMID:7444839"^^xsd:string) "An allergic asthma that has_allergic_trigger cobalt atom. (DO)"^^xsd:string) AnnotationAssertion( "Co allergic asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040054"^^xsd:string) AnnotationAssertion(rdfs:label "cobalt allergic asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (palladium allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:25097477"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger palladium. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to Pd"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040055"^^xsd:string) AnnotationAssertion(rdfs:label "palladium allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromium allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:1108802"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040056"^^xsd:string) AnnotationAssertion(rdfs:label "chromium allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benzoic acid allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:25097477"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to benzoate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040057"^^xsd:string) AnnotationAssertion(rdfs:label "benzoic acid allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (1,4-phenylenediamine allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:8400900"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to PPD"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to p-phenylenediamine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040058"^^xsd:string) AnnotationAssertion(rdfs:label "1,4-phenylenediamine allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (potassium dichromate allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:15462465"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040059"^^xsd:string) AnnotationAssertion(rdfs:label "potassium dichromate allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ketoprofen photoallergic dermatitis) AnnotationAssertion(Annotation( "PMID:11169173"^^xsd:string) "A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO)"^^xsd:string) AnnotationAssertion( "photoallergic dermatitis to orudis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040060"^^xsd:string) AnnotationAssertion(rdfs:label "ketoprofen photoallergic dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (remazole black respiratory allergy) AnnotationAssertion(Annotation( "PMID:2312995"^^xsd:string) "A respiratory allergy that has_allergic_trigger remazole black-GR. (DO)"^^xsd:string) AnnotationAssertion( "respiratory allergy to Reactive Black 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040061"^^xsd:string) AnnotationAssertion(rdfs:label "remazole black respiratory allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chloramine T respiratory allergy) AnnotationAssertion(Annotation( "PMID:2758361"^^xsd:string) "A respiratory allergy that has_allergic_trigger chloramine T. (DO)"^^xsd:string) AnnotationAssertion( "respiratory allergy to Chloraseptin"^^xsd:string) AnnotationAssertion( "respiratory allergy to Chlorazol"^^xsd:string) AnnotationAssertion( "respiratory allergy to Trichlorol"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040062"^^xsd:string) AnnotationAssertion(rdfs:label "chloramine T respiratory allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (4-vinylcyclohexene dioxide respiratory allergy) AnnotationAssertion(Annotation( "PMID:3356477"^^xsd:string) "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO)"^^xsd:string) AnnotationAssertion( "respiratory allergy to vinyl cyclohexene diepoxide"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040063"^^xsd:string) AnnotationAssertion(rdfs:label "4-vinylcyclohexene dioxide respiratory allergy"^^xsd:string) SubClassOf( ) # Class: (carvone allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:11380545"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to levo-carvone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040064"^^xsd:string) AnnotationAssertion(rdfs:label "carvone allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (quinidine allergy) AnnotationAssertion(Annotation( "PMID:445303"^^xsd:string) "A drug allergy that has_allergic_trigger quinidine. (DO)"^^xsd:string) AnnotationAssertion( "Kinidin allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040065"^^xsd:string) AnnotationAssertion(rdfs:label "quinidine allergy"^^xsd:string) SubClassOf( ) # Class: (melphalan allergy) AnnotationAssertion(Annotation( "PMID:445303"^^xsd:string) "A drug allergy that has_allergic_trigger melphalan. (DO)"^^xsd:string) AnnotationAssertion( "Alkeran allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040066"^^xsd:string) AnnotationAssertion(rdfs:label "melphalan allergy"^^xsd:string) SubClassOf( ) # Class: (neomycin sulfate allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:21616561"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to neomycin sulphate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040067"^^xsd:string) AnnotationAssertion(rdfs:label "neomycin sulfate allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (4-tert-butylphenol allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:8462290"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to PTBP"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to butylphen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040068"^^xsd:string) AnnotationAssertion(rdfs:label "4-tert-butylphenol allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (1-chloro-2,4-dinitrobenzene allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:17008874"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to DNCB"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to dinitrochlorobenzene"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040069"^^xsd:string) AnnotationAssertion(rdfs:label "1-chloro-2,4-dinitrobenzene allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (co-trimoxazole allergy) AnnotationAssertion(Annotation( "PMID:445303"^^xsd:string) "A drug allergy that has_allergic_trigger co-trimoxazole. (DO)"^^xsd:string) AnnotationAssertion( "Bactrim allergy"^^xsd:string) AnnotationAssertion( "TMP/SMX allergy"^^xsd:string) AnnotationAssertion( "cotrimoxazol allergy"^^xsd:string) AnnotationAssertion( "trimethoprim/sulfamethoxazole allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040070"^^xsd:string) AnnotationAssertion(rdfs:label "co-trimoxazole allergy"^^xsd:string) SubClassOf( ) # Class: (sodium aurothiomalate allergy) AnnotationAssertion(Annotation( "PMID:445303"^^xsd:string) "A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-14T12:24:56Z"^^xsd:string) AnnotationAssertion( "gold sodium thiomalate allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040071"^^xsd:string) AnnotationAssertion(rdfs:label "sodium aurothiomalate allergy"^^xsd:string) SubClassOf( ) # Class: (parthenolide allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:17986299"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to feverfew"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040072"^^xsd:string) AnnotationAssertion(rdfs:label "parthenolide allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (disodium cromoglycate allergy) AnnotationAssertion(Annotation( "PMID:3128591"^^xsd:string) "A drug allergy that has_allergic_trigger disodium cromoglycate. (DO)"^^xsd:string) AnnotationAssertion( "DSCG allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040073"^^xsd:string) AnnotationAssertion(rdfs:label "disodium cromoglycate allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (formaldehyde allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:7902023"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to formalin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040074"^^xsd:string) AnnotationAssertion(rdfs:label "formaldehyde allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (benzo[d]isothiazol-3-one allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:6446435"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to BIT"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to benzisothiazolone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040075"^^xsd:string) AnnotationAssertion(rdfs:label "benzo[d]isothiazol-3-one allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (phthalyl group allergy) AnnotationAssertion(Annotation( "PMID:7400667"^^xsd:string) "A drug allergy that has_allergic_trigger phthalyl group. (DO)"^^xsd:string) AnnotationAssertion( "phthalyl allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040076"^^xsd:string) AnnotationAssertion(rdfs:label "phthalyl group allergy"^^xsd:string) SubClassOf( ) # Class: (alcuronium bromide allergy) AnnotationAssertion(Annotation( "PMID:2215478"^^xsd:string) "A drug allergy that has_allergic_trigger alcuronium bromide. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040077"^^xsd:string) AnnotationAssertion(rdfs:label "alcuronium bromide allergy"^^xsd:string) SubClassOf( ) # Class: (gallamine allergy) AnnotationAssertion(Annotation( "PMID:2215478"^^xsd:string) "A drug allergy that has_allergic_trigger gallamine. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040078"^^xsd:string) AnnotationAssertion(rdfs:label "gallamine allergy"^^xsd:string) SubClassOf( ) # Class: (2,4-dinitrophenyl allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:17008874"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to DNP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040079"^^xsd:string) AnnotationAssertion(rdfs:label "2,4-dinitrophenyl allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (patent blue V allergy) AnnotationAssertion(Annotation( "PMID:19804438"^^xsd:string) "A drug allergy that has_allergic_trigger patent blue V. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040080"^^xsd:string) AnnotationAssertion(rdfs:label "patent blue V allergy"^^xsd:string) SubClassOf( ) # Class: (acid anhydride respiratory allergy) AnnotationAssertion(Annotation( "PMID:6643876"^^xsd:string) "A respiratory allergy that has_allergic_trigger acid anhydride. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040081"^^xsd:string) AnnotationAssertion(rdfs:label "acid anhydride respiratory allergy"^^xsd:string) SubClassOf( ) # Class: (oxirane allergy) AnnotationAssertion(Annotation( "PMID:3932500"^^xsd:string) "A drug allergy that has_allergic_trigger oxirane. (DO)"^^xsd:string) AnnotationAssertion( "ETO allergy"^^xsd:string) AnnotationAssertion( "ethylene oxide allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040082"^^xsd:string) AnnotationAssertion(rdfs:label "oxirane allergy"^^xsd:string) SubClassOf( ) # Class: (Chlamydia pneumonia) AnnotationAssertion(Annotation( "PMID:16831205"^^xsd:string) "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J16.0"^^xsd:string) AnnotationAssertion( "ICD9CM:483.1"^^xsd:string) AnnotationAssertion( "MESH:D061387"^^xsd:string) AnnotationAssertion( "Chlamydial Pneumonia"^^xsd:string) AnnotationAssertion( "Chlamydial Pneumonias"^^xsd:string) AnnotationAssertion( "chlamydophila pneumonia"^^xsd:string) AnnotationAssertion( "chlamydophila pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040083"^^xsd:string) AnnotationAssertion(rdfs:label "Chlamydia pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Streptococcus pneumonia) AnnotationAssertion(Annotation( "PMID:26396191"^^xsd:string) "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007499"^^xsd:string) AnnotationAssertion( "ICD10CM:J13"^^xsd:string) AnnotationAssertion( "ICD9CM:481"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040084"^^xsd:string) AnnotationAssertion(rdfs:label "Streptococcus pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bacterial sepsis) AnnotationAssertion(Annotation( "PMID:20421654"^^xsd:string) "A bacterial infectious disease has_material_basis_in Bacteria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003033"^^xsd:string) AnnotationAssertion( "ICD9CM:995.91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040085"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial sepsis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyomavirus-associated nephropathy) AnnotationAssertion(Annotation( "PMID:16537617"^^xsd:string) "A viral infectious disease has_material_basis_in BK polyomavirus. (DO)"^^xsd:string) AnnotationAssertion( "PVAN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040086"^^xsd:string) AnnotationAssertion(rdfs:label "polyomavirus-associated nephropathy"^^xsd:string) SubClassOf( ) # Class: (autoimmune peripheral neuropathy) AnnotationAssertion(Annotation( "PMID:7693874"^^xsd:string) "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040087"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune peripheral neuropathy"^^xsd:string) SubClassOf( ) # Class: (autoimmune uveitis) AnnotationAssertion(Annotation( "PMID:12938234"^^xsd:string) "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040088"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune optic neuritis) AnnotationAssertion(Annotation( "PMID:7516573"^^xsd:string) "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040089"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune optic neuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune gastritis) AnnotationAssertion(Annotation( "PMID:12645953"^^xsd:string) "An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040090"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune pancreatitis) AnnotationAssertion(Annotation( "PMID:19940298"^^xsd:string) "An autoimmune disease of endocrine system that is located_in the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000780"^^xsd:string) AnnotationAssertion( "MESH:D000081012"^^xsd:string) AnnotationAssertion( "Idiopathic Duct-centric Pancreatitis"^^xsd:string) AnnotationAssertion( "IgG4-related Pancreatitis"^^xsd:string) AnnotationAssertion( "Type 1 Autoimmune Pancreatitis"^^xsd:string) AnnotationAssertion( "Type 2 Autoimmune Pancreatitis"^^xsd:string) AnnotationAssertion( "type 1 AIP"^^xsd:string) AnnotationAssertion( "type 2 AIP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040091"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile ankylosing spondylitis) AnnotationAssertion(Annotation( "PMID:7541736"^^xsd:string) "An ankylosing spondylitis with onset during childhood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M08.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040092"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile ankylosing spondylitis"^^xsd:string) SubClassOf( ) # Class: (drug-induced lupus erythematosus) AnnotationAssertion(Annotation( "PMID:1378852"^^xsd:string) "A lupus erythematosus caused by chronic use of certain drugs. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M32.0"^^xsd:string) AnnotationAssertion( "NCI:C114354"^^xsd:string) AnnotationAssertion( "ORDO:231111"^^xsd:string) AnnotationAssertion( "DIL"^^xsd:string) AnnotationAssertion( "DILE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040093"^^xsd:string) AnnotationAssertion(rdfs:label "drug-induced lupus erythematosus"^^xsd:string) SubClassOf( ) # Class: (autoimmune glomerulonephritis) AnnotationAssertion(Annotation( "PMID:8809141"^^xsd:string) "An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040094"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (autoimmune cardiomyopathy) AnnotationAssertion(Annotation( "PMID:10762456"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040095"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune atherosclerosis) AnnotationAssertion(Annotation( "PMID:17097662"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040096"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune atherosclerosis"^^xsd:string) SubClassOf( ) # Class: (autoimmune vasculitis) AnnotationAssertion(Annotation( "PMID:23549081"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040097"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune vasculitis"^^xsd:string) SubClassOf( ) # Class: (pemphigus gestationis) AnnotationAssertion(Annotation( "PMID:16552711"^^xsd:string) "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000709"^^xsd:string) AnnotationAssertion( "ICD10CM:O26.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040098"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus gestationis"^^xsd:string) SubClassOf( ) # Class: (livedoid vasculitis) AnnotationAssertion(Annotation( "PMID:10925314"^^xsd:string) "A vasculitis with purpuric ulcers. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L95.0"^^xsd:string) AnnotationAssertion( "MESH:D000090122"^^xsd:string) AnnotationAssertion( "Idiopathic Atrophic Blanche"^^xsd:string) AnnotationAssertion( "Livedo Vasculitis"^^xsd:string) AnnotationAssertion( "White Atrophy"^^xsd:string) AnnotationAssertion( "livedo reticularis with summer ulceration"^^xsd:string) AnnotationAssertion( "livedoid vasculopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040099"^^xsd:string) AnnotationAssertion(rdfs:label "livedoid vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hirata disease) AnnotationAssertion(Annotation( "PMID:10445096"^^xsd:string) "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO)"^^xsd:string) AnnotationAssertion( "insulin autoimmune syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040100"^^xsd:string) AnnotationAssertion(rdfs:label "Hirata disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (N,N'-diphenylthiourea allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:28295200"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "neoprene allergy"^^xsd:string) AnnotationAssertion( "DOID:0040101"^^xsd:string) AnnotationAssertion(rdfs:label "N,N'-diphenylthiourea allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (N,N'-diethylthiourea allergic contact dermatitis) AnnotationAssertion(Annotation( "PMID:28295200"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-06-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "neoprene allergy"^^xsd:string) AnnotationAssertion( "DOID:0040102"^^xsd:string) AnnotationAssertion(rdfs:label "N,N'-diethylthiourea allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (cefotiam allergy) AnnotationAssertion(Annotation( "PMID:28543395"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefotiam. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040103"^^xsd:string) AnnotationAssertion(rdfs:label "cefotiam allergy"^^xsd:string) SubClassOf( ) # Class: (toluene 2,4-diisocyanate allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/"^^xsd:string) "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040104"^^xsd:string) AnnotationAssertion(rdfs:label "toluene 2,4-diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (seminal vesicle acute gonorrhea) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation"^^xsd:string) "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004909"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050004"^^xsd:string) AnnotationAssertion(rdfs:label "seminal vesicle acute gonorrhea"^^xsd:string) SubClassOf( ) # Class: (chikungunya) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chikungunya_virus"^^xsd:string) Annotation( "https://www.cdc.gov/chikungunya/about/"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6038"^^xsd:string) AnnotationAssertion( "MESH:D065632"^^xsd:string) AnnotationAssertion( "MONDO:0017941"^^xsd:string) AnnotationAssertion( "Chikungunya Virus Infection"^^xsd:string) AnnotationAssertion( "Chikungunya Virus Infections"^^xsd:string) AnnotationAssertion( "chikungunya fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050012"^^xsd:string) AnnotationAssertion(rdfs:label "chikungunya"^^xsd:string) SubClassOf( ) # Class: (human granulocytic anaplasmosis) AnnotationAssertion(Annotation( "PMID:25999228"^^xsd:string) "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000777"^^xsd:string) AnnotationAssertion( "HGE"^^xsd:string) AnnotationAssertion( "human granulocytic ehrlichiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050025"^^xsd:string) AnnotationAssertion(rdfs:label "human granulocytic anaplasmosis"^^xsd:string) SubClassOf( ) # Class: (human monocytic ehrlichiosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/"^^xsd:string) "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Ehrlichiosis chafeensis"^^xsd:string) AnnotationAssertion( "DOID:0050026"^^xsd:string) AnnotationAssertion(rdfs:label "human monocytic ehrlichiosis"^^xsd:string) SubClassOf( ) # Class: (mineral metabolism disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html"^^xsd:string) "An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009556"^^xsd:string) AnnotationAssertion( "RDO:9003951"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050032"^^xsd:string) AnnotationAssertion(rdfs:label "mineral metabolism disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (African tick-bite fever) AnnotationAssertion(Annotation( "http://jcm.asm.org/cgi/reprint/42/2/816"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia africae spotted fever"^^xsd:string) AnnotationAssertion( "South African tick-bite fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050035"^^xsd:string) AnnotationAssertion(rdfs:label "African tick-bite fever"^^xsd:string) SubClassOf( ) # Class: (Astrakhan spotted fever) AnnotationAssertion(Annotation( "PMID:7985764"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050041"^^xsd:string) AnnotationAssertion(rdfs:label "Astrakhan spotted fever"^^xsd:string) SubClassOf( ) # Class: (Indian tick typhus) AnnotationAssertion(Annotation( "http://www.biomedcentral.com/1471-2180/5/11"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050042"^^xsd:string) AnnotationAssertion(rdfs:label "Indian tick typhus"^^xsd:string) SubClassOf( ) # Class: (Israeli tick typhus) AnnotationAssertion(Annotation( "http://www.biomedcentral.com/1471-2180/5/11"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Israeli spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050043"^^xsd:string) AnnotationAssertion(rdfs:label "Israeli tick typhus"^^xsd:string) SubClassOf( ) # Class: (Far Eastern spotted fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia heilongjiangensis spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050046"^^xsd:string) AnnotationAssertion(rdfs:label "Far Eastern spotted fever"^^xsd:string) SubClassOf( ) # Class: (Flinders Island spotted fever) AnnotationAssertion(Annotation( "https://www.cdc.gov/otherspottedfever/imported/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "FISF"^^xsd:string) AnnotationAssertion( "Thai tick typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050047"^^xsd:string) AnnotationAssertion(rdfs:label "Flinders Island spotted fever"^^xsd:string) SubClassOf( ) # Class: (Japanese spotted fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia japonica spotted fever"^^xsd:string) AnnotationAssertion( "oriental spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050050"^^xsd:string) AnnotationAssertion(rdfs:label "Japanese spotted fever"^^xsd:string) SubClassOf( ) # Class: (Rickettsia parkeri spotted fever) AnnotationAssertion(Annotation( "http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000234"^^xsd:string) AnnotationAssertion( "maculatum infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050051"^^xsd:string) AnnotationAssertion(rdfs:label "Rickettsia parkeri spotted fever"^^xsd:string) SubClassOf( ) # Class: (Rocky Mountain spotted fever) AnnotationAssertion(Annotation( "http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7585"^^xsd:string) AnnotationAssertion( "MESH:D012373"^^xsd:string) AnnotationAssertion( "Sao Paulo Typhus"^^xsd:string) AnnotationAssertion( "Tick typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Brazilian spotted"^^xsd:string) AnnotationAssertion( "Choix"^^xsd:string) AnnotationAssertion( "Exanthematic typhus of Sao Paulo"^^xsd:string) AnnotationAssertion( "Fiebre maculosa"^^xsd:string) AnnotationAssertion( "Fiebre manchada"^^xsd:string) AnnotationAssertion( "So Paulo fever"^^xsd:string) AnnotationAssertion( "Tobia fever"^^xsd:string) AnnotationAssertion( "DOID:0050052"^^xsd:string) AnnotationAssertion(rdfs:label "Rocky Mountain spotted fever"^^xsd:string) SubClassOf( ) # Class: (oropharyngeal anthrax) AnnotationAssertion(Annotation( "PMID:3934300"^^xsd:string) "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050059"^^xsd:string) AnnotationAssertion(rdfs:label "oropharyngeal anthrax"^^xsd:string) SubClassOf( ) # Class: (erysipeloid) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erysipeloid"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000928"^^xsd:string) AnnotationAssertion( "MESH:D004887"^^xsd:string) AnnotationAssertion( "Erysipelothrix rhusiopathiae infectious disease"^^xsd:string) AnnotationAssertion( "erysipeloids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050061"^^xsd:string) AnnotationAssertion(rdfs:label "erysipeloid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (adiaspiromycosis) AnnotationAssertion(Annotation( "http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract"^^xsd:string) "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C000656784"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050072"^^xsd:string) AnnotationAssertion(rdfs:label "adiaspiromycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (invasive aspergillosis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm"^^xsd:string) "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D055732"^^xsd:string) AnnotationAssertion( "Aspergilloses, Lung"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Aspergillose"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Aspergilloses"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Aspergillosis"^^xsd:string) AnnotationAssertion( "Lung Aspergillosis"^^xsd:string) AnnotationAssertion( "pulmonary aspergilloses"^^xsd:string) AnnotationAssertion( "pulmonary aspergillosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050073"^^xsd:string) AnnotationAssertion(rdfs:label "invasive aspergillosis"^^xsd:string) SubClassOf( ) # Class: (Keshan disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Keshan_disease"^^xsd:string) "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8761"^^xsd:string) AnnotationAssertion( "MESH:C536166"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050083"^^xsd:string) AnnotationAssertion(rdfs:label "Keshan disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tinea barbae) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae"^^xsd:string) "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C000656825"^^xsd:string) AnnotationAssertion( "barber's itch"^^xsd:string) AnnotationAssertion( "beard ringworm"^^xsd:string) AnnotationAssertion( "dermatophytosis of beard"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050096"^^xsd:string) AnnotationAssertion(rdfs:label "tinea barbae"^^xsd:string) SubClassOf( ) # Class: (ectothrix infectious disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis"^^xsd:string) "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050097"^^xsd:string) AnnotationAssertion(rdfs:label "ectothrix infectious disease"^^xsd:string) SubClassOf( ) # Class: (endothrix infectious disease) AnnotationAssertion(Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/"^^xsd:string) "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050105"^^xsd:string) AnnotationAssertion(rdfs:label "endothrix infectious disease"^^xsd:string) SubClassOf( ) # Class: (tinea imbricata) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata"^^xsd:string) "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:275240"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "tinea imbricata, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050116"^^xsd:string) AnnotationAssertion(rdfs:label "tinea imbricata"^^xsd:string) SubClassOf( ) # Class: (disease by infectious agent) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26726"^^xsd:string) "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000544"^^xsd:string) AnnotationAssertion( "EFO:0005741"^^xsd:string) AnnotationAssertion( "ICD9CM:079.0"^^xsd:string) AnnotationAssertion( "MESH:D003141"^^xsd:string) AnnotationAssertion( "MESH:D007239"^^xsd:string) AnnotationAssertion( "communicable disease"^^xsd:string) AnnotationAssertion( "communicable diseases"^^xsd:string) AnnotationAssertion( "infection"^^xsd:string) AnnotationAssertion( "infections"^^xsd:string) AnnotationAssertion( "infectious disease"^^xsd:string) AnnotationAssertion( "infectious diseases"^^xsd:string) AnnotationAssertion( "recurrent infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050117"^^xsd:string) AnnotationAssertion(rdfs:label "disease by infectious agent"^^xsd:string) SubClassOf( ) # Class: (La Crosse encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.5"^^xsd:string) AnnotationAssertion( "ICD9CM:062.5"^^xsd:string) AnnotationAssertion( "MESH:D004670"^^xsd:string) AnnotationAssertion( "California encephalitis"^^xsd:string) AnnotationAssertion( "California viral encephalitides"^^xsd:string) AnnotationAssertion( "California viral encephalitis"^^xsd:string) AnnotationAssertion( "California virus encephalitis"^^xsd:string) AnnotationAssertion( "neuroinvasive California encephalitis virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050118"^^xsd:string) AnnotationAssertion(rdfs:label "La Crosse encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemophagocytic lymphohistiocytosis) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis"^^xsd:string) Annotation( "http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso"^^xsd:string) "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6589"^^xsd:string) AnnotationAssertion( "ICD10CM:D76.1"^^xsd:string) AnnotationAssertion( "MESH:D051359"^^xsd:string) AnnotationAssertion( "MIM:PS267700"^^xsd:string) AnnotationAssertion( "NCI:C34792"^^xsd:string) AnnotationAssertion( "ORDO:540"^^xsd:string) AnnotationAssertion( "HPLH"^^xsd:string) AnnotationAssertion( "HPS"^^xsd:string) AnnotationAssertion( "haemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "hemophagocytic lymphohistiocytoses"^^xsd:string) AnnotationAssertion( "hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "hemophagocytic syndromes"^^xsd:string) AnnotationAssertion( "infection-associated hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "primary hemophagocytic hymphohistiocytosis"^^xsd:string) AnnotationAssertion( "primary hemophagocytic lymphohistiocytosis"^^xsd:string) AnnotationAssertion( "reactive hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050120"^^xsd:string) AnnotationAssertion(rdfs:label "hemophagocytic lymphohistiocytosis"^^xsd:string) SubClassOf( ) # Class: (dengue shock syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dengue_shock_syndrome"^^xsd:string) Annotation( "https://pmc.ncbi.nlm.nih.gov/articles/PMC3097561/"^^xsd:string) "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000248"^^xsd:string) AnnotationAssertion( "DSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050125"^^xsd:string) AnnotationAssertion(rdfs:label "dengue shock syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007486"^^xsd:string) AnnotationAssertion( "ICD10CM:J01"^^xsd:string) AnnotationAssertion( "ICD9CM:461"^^xsd:string) AnnotationAssertion( "MESH:D012852"^^xsd:string) AnnotationAssertion( "NCI:C128411"^^xsd:string) AnnotationAssertion( "Sinusitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050127"^^xsd:string) AnnotationAssertion(rdfs:label "sinusitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (secretory diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050129"^^xsd:string) AnnotationAssertion(rdfs:label "secretory diarrhea"^^xsd:string) SubClassOf( ) # Class: (osmotic diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050130"^^xsd:string) AnnotationAssertion(rdfs:label "osmotic diarrhea"^^xsd:string) SubClassOf( ) # Class: (motility-related diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050131"^^xsd:string) AnnotationAssertion(rdfs:label "motility-related diarrhea"^^xsd:string) SubClassOf( ) # Class: (inflammatory diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002488"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050132"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory diarrhea"^^xsd:string) SubClassOf( ) # Class: (superficial mycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mycoses"^^xsd:string) Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string) "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B36.9"^^xsd:string) AnnotationAssertion( "MESH:D010854"^^xsd:string) AnnotationAssertion( "piedra"^^xsd:string) AnnotationAssertion( "piedras"^^xsd:string) AnnotationAssertion( "steroid-modified tinea infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050133"^^xsd:string) AnnotationAssertion(rdfs:label "superficial mycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous mycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mycoses"^^xsd:string) Annotation( "http://jama.ama-assn.org/cgi/reprint/61/6/407"^^xsd:string) "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050134"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous mycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subcutaneous mycosis) AnnotationAssertion(Annotation( "https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses"^^xsd:string) "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000255"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050135"^^xsd:string) AnnotationAssertion(rdfs:label "subcutaneous mycosis"^^xsd:string) SubClassOf( ) # Class: (systemic mycosis) AnnotationAssertion(Annotation( "http://dermnetnz.org/fungal/systemic-mycoses.html"^^xsd:string) Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006"^^xsd:string) "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050136"^^xsd:string) AnnotationAssertion(rdfs:label "systemic mycosis"^^xsd:string) SubClassOf( ) # Class: (podoconiosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Podoconiosis"^^xsd:string) "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004712"^^xsd:string) AnnotationAssertion( "MIM:614590"^^xsd:string) AnnotationAssertion( "PDCOS"^^xsd:string) AnnotationAssertion( "mossy foot"^^xsd:string) AnnotationAssertion( "non-filarial elephantiasis"^^xsd:string) AnnotationAssertion( "podoconioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050138"^^xsd:string) AnnotationAssertion(rdfs:label "podoconiosis"^^xsd:string) SubClassOf( ) # Class: (acute diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea"^^xsd:string) "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050140"^^xsd:string) AnnotationAssertion(rdfs:label "acute diarrhea"^^xsd:string) SubClassOf( ) # Class: (intestinal botulism) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs270/en/"^^xsd:string) Annotation( "https://jnnp.bmj.com/content/75/suppl_3/iii35"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050141"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal botulism"^^xsd:string) SubClassOf( ) # Class: (asymptomatic dengue) AnnotationAssertion(Annotation( "PMID:28107858"^^xsd:string) Annotation( "PMID:29111183"^^xsd:string) "A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000259"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050143"^^xsd:string) AnnotationAssertion(rdfs:label "asymptomatic dengue"^^xsd:string) SubClassOf( ) # Class: (Kartagener syndrome) AnnotationAssertion(Annotation( "PMID:19529061"^^xsd:string) Annotation( "PMID:23243352"^^xsd:string) Annotation( "PMID:24019633"^^xsd:string) Annotation( "PMID:25633235"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome"^^xsd:string) "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001352"^^xsd:string) AnnotationAssertion( "GARD:6815"^^xsd:string) AnnotationAssertion( "MESH:D007619"^^xsd:string) AnnotationAssertion( "NCI:C84797"^^xsd:string) AnnotationAssertion( "ORDO:98861"^^xsd:string) AnnotationAssertion( "Kartagener triad"^^xsd:string) AnnotationAssertion( "Kartagener's Triad"^^xsd:string) AnnotationAssertion( "Kartagener's syndrome"^^xsd:string) AnnotationAssertion( "Kartageners syndrome"^^xsd:string) AnnotationAssertion( "Kartageners triad"^^xsd:string) AnnotationAssertion( "Siewert syndrome"^^xsd:string) AnnotationAssertion( "dextrocardia, bronchiectasis, and sinusitis"^^xsd:string) AnnotationAssertion( "immotile cilia syndrome, Kartagener type"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia, Kartagener type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050144"^^xsd:string) AnnotationAssertion(rdfs:label "Kartagener syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adenoiditis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenoiditis"^^xsd:string) "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J35.02"^^xsd:string) AnnotationAssertion( "ICD9CM:474.01"^^xsd:string) AnnotationAssertion( "RDO:9004975"^^xsd:string) AnnotationAssertion( "chronic adenoiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050145"^^xsd:string) AnnotationAssertion(rdfs:label "adenoiditis"^^xsd:string) SubClassOf( ) # Class: (otomycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otomycosis"^^xsd:string) Annotation( "https://www.merriam-webster.com/medical/otomycosis"^^xsd:string) "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D059249"^^xsd:string) AnnotationAssertion( "MONDO:0000262"^^xsd:string) AnnotationAssertion( "Singapore ear"^^xsd:string) AnnotationAssertion( "otomycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050147"^^xsd:string) AnnotationAssertion(rdfs:label "otomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngotracheitis) AnnotationAssertion(Annotation( "https://www.merriam-webster.com/medical/laryngotracheitis"^^xsd:string) "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J04"^^xsd:string) AnnotationAssertion( "ICD10CM:J37.1"^^xsd:string) AnnotationAssertion( "ICD9CM:464"^^xsd:string) AnnotationAssertion( "ICD9CM:476.1"^^xsd:string) AnnotationAssertion( "MONDO:0000263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050148"^^xsd:string) AnnotationAssertion(rdfs:label "laryngotracheitis"^^xsd:string) SubClassOf( ) # Class: (Pontiac fever) AnnotationAssertion(Annotation( "PMID:623097"^^xsd:string) Annotation( "http://www.cdc.gov/legionella/patient_facts.htm"^^xsd:string) "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050150"^^xsd:string) AnnotationAssertion(rdfs:label "Pontiac fever"^^xsd:string) SubClassOf( ) # Class: (aspiration pneumonia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Aspiration_pneumonia"^^xsd:string) "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011015"^^xsd:string) AnnotationAssertion( "Acid Aspiration Syndrome"^^xsd:string) AnnotationAssertion( "Aspiration Pneumonias"^^xsd:string) AnnotationAssertion( "Gastric Acid Aspiration Syndrome"^^xsd:string) AnnotationAssertion( "Mendelson syndrome"^^xsd:string) AnnotationAssertion( "Mendelson's Syndrome"^^xsd:string) AnnotationAssertion( "Mendelsons Syndrome"^^xsd:string) AnnotationAssertion( "acid aspiration syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050152"^^xsd:string) AnnotationAssertion(rdfs:label "aspiration pneumonia"^^xsd:string) SubClassOf( ) # Class: (pulmonary aspergilloma) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm"^^xsd:string) "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001834"^^xsd:string) AnnotationAssertion( "RDO:9002381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050153"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary aspergilloma"^^xsd:string) SubClassOf( ) # Class: (sensory system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string) "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9003045"^^xsd:string) AnnotationAssertion( "EFO:0001058"^^xsd:string) AnnotationAssertion( "EFO:0009543"^^xsd:string) AnnotationAssertion( "MESH:D012678"^^xsd:string) AnnotationAssertion( "Sensation Disorder"^^xsd:string) AnnotationAssertion( "Sensation Disorders"^^xsd:string) AnnotationAssertion( "Sensory Disorder"^^xsd:string) AnnotationAssertion( "Sensory Disorders"^^xsd:string) AnnotationAssertion( "Special Senses Disorder"^^xsd:string) AnnotationAssertion( "Special Senses Disorders"^^xsd:string) AnnotationAssertion( "sensory system diseases"^^xsd:string) AnnotationAssertion( "disturbances of sensation of smell and taste"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050155"^^xsd:string) AnnotationAssertion(rdfs:label "sensory system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (idiopathic pulmonary fibrosis) AnnotationAssertion(Annotation( "PMID:32855221"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK448162/"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis"^^xsd:string) Annotation( "https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf"^^xsd:string) "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO)"^^xsd:string) AnnotationAssertion( "SFTPA2-related condition"^^xsd:string) AnnotationAssertion( "EFO:0000768"^^xsd:string) AnnotationAssertion( "GARD:8609"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.112"^^xsd:string) AnnotationAssertion( "ICD9CM:516.31"^^xsd:string) AnnotationAssertion( "MESH:D054990"^^xsd:string) AnnotationAssertion( "MIM:178500"^^xsd:string) AnnotationAssertion( "NCI:C35715"^^xsd:string) AnnotationAssertion( "NCI:C35716"^^xsd:string) AnnotationAssertion( "IPF"^^xsd:string) AnnotationAssertion( "Idiopathic Fibrosing Alveolitis, Chronic Form"^^xsd:string) AnnotationAssertion( "cryptogenic fibrosing alveolitides"^^xsd:string) AnnotationAssertion( "cryptogenic fibrosing alveolitis"^^xsd:string) AnnotationAssertion( "familial idiopathic pulmonary fibrosis"^^xsd:string) AnnotationAssertion( "fibrocystic pulmonary dysplasia"^^xsd:string) AnnotationAssertion( "fibrocystic pulmonary dysplasias"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary fibroses"^^xsd:string) AnnotationAssertion( "Hamman Rich disease"^^xsd:string) AnnotationAssertion( "Hamman-Rich diseases"^^xsd:string) AnnotationAssertion( "UIP Hamman Rich disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary fibrosis, susceptibility to"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonia"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonias"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonitides"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "DOID:0050156"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic pulmonary fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cryptogenic organizing pneumonia) AnnotationAssertion(Annotation( "PMID:11790668"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001300"^^xsd:string) AnnotationAssertion( "GARD:1620"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.116"^^xsd:string) AnnotationAssertion( "ICD9CM:516.36"^^xsd:string) AnnotationAssertion( "MESH:D018549"^^xsd:string) AnnotationAssertion( "NCI:C62586"^^xsd:string) AnnotationAssertion( "BOOP"^^xsd:string) AnnotationAssertion( "Cryptogenic Organizing Pneumonias"^^xsd:string) AnnotationAssertion( "Cryptogenic organising pneumonitis"^^xsd:string) AnnotationAssertion( "bronchiolitis obliterans organising pneumonia"^^xsd:string) AnnotationAssertion( "bronchiolitis obliterans organizing pneumonia"^^xsd:string) AnnotationAssertion( "cryptogenic organising pneumonia"^^xsd:string) AnnotationAssertion( "cryptogenic organizing pneumonitis"^^xsd:string) AnnotationAssertion( "idiopathic bronchiolitis obliterans with organising pneumonia"^^xsd:string) AnnotationAssertion( "idiopathic bronchiolitis obliterans with organizing pneumonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050157"^^xsd:string) AnnotationAssertion(rdfs:label "cryptogenic organizing pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (desquamative interstitial pneumonia) AnnotationAssertion(Annotation( "PMID:11790668"^^xsd:string) Annotation( "PMID:16142185"^^xsd:string) Annotation( "PMID:16456642"^^xsd:string) Annotation( "PMID:23001799"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:263000"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.117"^^xsd:string) AnnotationAssertion( "ICD9CM:516.37"^^xsd:string) AnnotationAssertion( "MESH:C562470"^^xsd:string) AnnotationAssertion( "NCI:C35288"^^xsd:string) AnnotationAssertion( "DIP"^^xsd:string) AnnotationAssertion( "ILD, DESQUAMATIVE"^^xsd:string) AnnotationAssertion( "Interstitial Lung Disease, Desquamative"^^xsd:string) AnnotationAssertion( "RBILD"^^xsd:string) AnnotationAssertion( "familial desquamative interstitial pneumonia"^^xsd:string) AnnotationAssertion( "familial desquamative interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "respiratory bronchiolitis-associated interstitial lung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050158"^^xsd:string) AnnotationAssertion(rdfs:label "desquamative interstitial pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymphoid interstitial pneumonia) AnnotationAssertion(Annotation( "PMID:11790668"^^xsd:string) "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.2"^^xsd:string) AnnotationAssertion( "MESH:C562489"^^xsd:string) AnnotationAssertion( "MIM:247610"^^xsd:string) AnnotationAssertion( "MONDO:0009537"^^xsd:string) AnnotationAssertion( "NCI:C27558"^^xsd:string) AnnotationAssertion( "ORDO:79128"^^xsd:string) AnnotationAssertion( "lymphocytic interstitial pneumonia"^^xsd:string) AnnotationAssertion( "lymphocytic interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050159"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoid interstitial pneumonia"^^xsd:string) SubClassOf( ) # Class: (inhalation anthrax) AnnotationAssertion(Annotation( "PMID:11988441"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/001325.htm"^^xsd:string) Annotation( "https://www.cdc.gov/anthrax/basics/types/index.html"^^xsd:string) "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C571912"^^xsd:string) AnnotationAssertion( "pulmonary anthrax"^^xsd:string) AnnotationAssertion( "respiratory anthrax"^^xsd:string) AnnotationAssertion( "wool-sorters' disease"^^xsd:string) AnnotationAssertion( "woolsorters' disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050160"^^xsd:string) AnnotationAssertion(rdfs:label "inhalation anthrax"^^xsd:string) SubClassOf( ) # Class: (lower respiratory tract disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/lower_respiratory_tract"^^xsd:string) "A respiratory system disease which involves the lower respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009433"^^xsd:string) AnnotationAssertion( "RDO:9004972"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050161"^^xsd:string) AnnotationAssertion(rdfs:label "lower respiratory tract disease"^^xsd:string) SubClassOf( ) # Class: (tuberculous salpingitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false"^^xsd:string) "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.17"^^xsd:string) AnnotationAssertion( "ICD9CM:016.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050166"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous salpingitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune polyendocrine syndrome type 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1"^^xsd:string) "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:240300"^^xsd:string) AnnotationAssertion( "GARD:8466"^^xsd:string) AnnotationAssertion( "MESH:C538275"^^xsd:string) AnnotationAssertion( "APS I"^^xsd:string) AnnotationAssertion( "APS type 1"^^xsd:string) AnnotationAssertion( "APS1"^^xsd:string) AnnotationAssertion( "PGA I"^^xsd:string) AnnotationAssertion( "Whitaker syndrome"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type 1"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type I"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type I, autosomal dominant"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome I"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome type 1"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome type I"^^xsd:string) AnnotationAssertion( "hypoadrenocorticism with hypoparathyroidism and superficial moniliasis"^^xsd:string) AnnotationAssertion( "polyglandular deficiency syndrome, Persian-Jewish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050167"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune polyendocrine syndrome type 1"^^xsd:string) SubClassOf( ) # Class: (autoimmune polyendocrine syndrome type 2) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2"^^xsd:string) "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7611"^^xsd:string) AnnotationAssertion( "MIM:269200"^^xsd:string) AnnotationAssertion( "APS2"^^xsd:string) AnnotationAssertion( "Schmidt syndrome"^^xsd:string) AnnotationAssertion( "Schmidt's syndrome"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrine syndrome type II"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome type II"^^xsd:string) AnnotationAssertion( "multiple endocrine deficiency syndrome, type 2"^^xsd:string) AnnotationAssertion( "polyglandular autoimmune syndrome, type 2"^^xsd:string) AnnotationAssertion( "polyglandular deficiency syndrome, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050168"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune polyendocrine syndrome type 2"^^xsd:string) SubClassOf( ) # Class: (cutaneous lupus erythematosus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/"^^xsd:string) "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003834"^^xsd:string) AnnotationAssertion( "GARD:6225"^^xsd:string) AnnotationAssertion( "MESH:D008178"^^xsd:string) AnnotationAssertion( "MONDO:0005282"^^xsd:string) AnnotationAssertion( "subacute cutaneous lupus erythematosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050169"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous lupus erythematosus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kunjin encephalitis) AnnotationAssertion(Annotation( "PMID:2552010"^^xsd:string) Annotation( "https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx"^^xsd:string) "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050174"^^xsd:string) AnnotationAssertion(rdfs:label "Kunjin encephalitis"^^xsd:string) SubClassOf( ) # Class: (tick-borne encephalitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Tick-borne_encephalitis"^^xsd:string) Annotation( "https://www.cdc.gov/tick-borne-encephalitis/about/"^^xsd:string) Annotation( "https://www.ecdc.europa.eu/en/tick-borne-encephalitis"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001309"^^xsd:string) AnnotationAssertion( "GARD:5216"^^xsd:string) AnnotationAssertion( "ICD10CM:A84.1"^^xsd:string) AnnotationAssertion( "ICD9CM:063.2"^^xsd:string) AnnotationAssertion( "MESH:D004675"^^xsd:string) AnnotationAssertion( "Central European Encephalitis"^^xsd:string) AnnotationAssertion( "European Tick Borne Encephalitis"^^xsd:string) AnnotationAssertion( "European Tick-Borne Encephalitides"^^xsd:string) AnnotationAssertion( "Far Eastern Russian Encephalitis"^^xsd:string) AnnotationAssertion( "Far Eastern TBE"^^xsd:string) AnnotationAssertion( "Louping Ill Encephalitides"^^xsd:string) AnnotationAssertion( "Louping Ill Encephalitis"^^xsd:string) AnnotationAssertion( "Russian Spring Summer Encephalitis"^^xsd:string) AnnotationAssertion( "Siberian tick-borne encephalitis"^^xsd:string) AnnotationAssertion( "Tick-Borne Encephalitides"^^xsd:string) AnnotationAssertion( "Western European tick-borne encephalitis"^^xsd:string) AnnotationAssertion( "taiga encephalitis"^^xsd:string) AnnotationAssertion( "west-Siberian encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050175"^^xsd:string) AnnotationAssertion(rdfs:label "tick-borne encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (monogenic disease) AnnotationAssertion(Annotation( "https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders"^^xsd:string) "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050177"^^xsd:string) AnnotationAssertion(rdfs:label "monogenic disease"^^xsd:string) SubClassOf( ) # Class: (Powassan encephalitis) AnnotationAssertion(Annotation( "https://pmc.ncbi.nlm.nih.gov/articles/PMC9494578/"^^xsd:string) Annotation( "https://www.cdc.gov/powassan/about/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/articles/PMC5732952/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK570599/"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000276"^^xsd:string) AnnotationAssertion( "Powassan Encephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050179"^^xsd:string) AnnotationAssertion(rdfs:label "Powassan encephalitis"^^xsd:string) SubClassOf( ) # Class: (erythema multiforme) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm"^^xsd:string) "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000694"^^xsd:string) AnnotationAssertion( "MESH:D004892"^^xsd:string) AnnotationAssertion( "MONDO:0006545"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050185"^^xsd:string) AnnotationAssertion(rdfs:label "erythema multiforme"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nipah virus encephalitis) AnnotationAssertion(Annotation( "PMID:19141846"^^xsd:string) Annotation( "https://www.cdc.gov/vhf/nipah/index.html"^^xsd:string) Annotation( "https://www.who.int/csr/disease/nipah/en/"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050192"^^xsd:string) AnnotationAssertion(rdfs:label "Nipah virus encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Argentine hemorrhagic fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever"^^xsd:string) Annotation( "http://www.jstor.org/stable/30129873?seq=1"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004295"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050194"^^xsd:string) AnnotationAssertion(rdfs:label "Argentine hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bolivian hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050195"^^xsd:string) AnnotationAssertion(rdfs:label "Bolivian hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Venezuelan hemorrhagic fever) AnnotationAssertion(Annotation( "PMID:34917387"^^xsd:string) Annotation( "PMID:7840443"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050196"^^xsd:string) AnnotationAssertion(rdfs:label "Venezuelan hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Brazilian hemorrhagic fever) AnnotationAssertion(Annotation( "PMID:7905555"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/18421377"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050197"^^xsd:string) AnnotationAssertion(rdfs:label "Brazilian hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Chapare hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/18421377"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050198"^^xsd:string) AnnotationAssertion(rdfs:label "Chapare hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Whitewater Arroyo hemorrhagic fever) AnnotationAssertion(Annotation( "http://jama.ama-assn.org/cgi/content/full/284/10/1237"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/1799746"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050199"^^xsd:string) AnnotationAssertion(rdfs:label "Whitewater Arroyo hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Korean hemorrhagic fever) AnnotationAssertion(Annotation( "PMID:1349231"^^xsd:string) Annotation( "http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false"^^xsd:string) Annotation( "http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm"^^xsd:string) "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050200"^^xsd:string) AnnotationAssertion(rdfs:label "Korean hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (nephropathia epidemica) AnnotationAssertion(Annotation( "PMID:1349231"^^xsd:string) Annotation( "PMID:2574903"^^xsd:string) Annotation( "PMID:2902106"^^xsd:string) "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050201"^^xsd:string) AnnotationAssertion(rdfs:label "nephropathia epidemica"^^xsd:string) SubClassOf( ) # Class: (lujo hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/19478873"^^xsd:string) "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004301"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050202"^^xsd:string) AnnotationAssertion(rdfs:label "lujo hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Epstein-Barr virus hepatitis) AnnotationAssertion(Annotation( "PMID:16711324"^^xsd:string) Annotation( "PMID:17602362"^^xsd:string) "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050204"^^xsd:string) AnnotationAssertion(rdfs:label "Epstein-Barr virus hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (swine influenza) AnnotationAssertion(Annotation( "PMID:9140195"^^xsd:string) Annotation( "https://www.cdc.gov/swine-flu/about/index.html"^^xsd:string) "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005226"^^xsd:string) AnnotationAssertion( "MONDO:0005460"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050211"^^xsd:string) AnnotationAssertion(rdfs:label "swine influenza"^^xsd:string) SubClassOf( ) # Class: (Lambert-Eaton myasthenic syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome"^^xsd:string) "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G70.80"^^xsd:string) AnnotationAssertion( "ICD9CM:358.3"^^xsd:string) AnnotationAssertion( "MESH:D015624"^^xsd:string) AnnotationAssertion( "NCI:C3155"^^xsd:string) AnnotationAssertion( "Eaton Lambert Syndrome"^^xsd:string) AnnotationAssertion( "Eaton-Lambert Myasthenic-Myopathic Syndrome"^^xsd:string) AnnotationAssertion( "Eaton-Lambert Myopathic-Myasthenic Syndromes"^^xsd:string) AnnotationAssertion( "LEMS"^^xsd:string) AnnotationAssertion( "myasthenic-myopathic syndrome of Eaton Lambert"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050214"^^xsd:string) AnnotationAssertion(rdfs:label "Lambert-Eaton myasthenic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polycystic echinococcosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm"^^xsd:string) "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002368"^^xsd:string) AnnotationAssertion( "human polycystic hydatid disease"^^xsd:string) AnnotationAssertion( "neotropical echinococcosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050218"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (selective IgM deficiency disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/IgM"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency"^^xsd:string) "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002617"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050222"^^xsd:string) AnnotationAssertion(rdfs:label "selective IgM deficiency disease"^^xsd:string) SubClassOf( ) # Class: (primary amebic meningoencephalitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm"^^xsd:string) "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9554"^^xsd:string) AnnotationAssertion( "Meningoencephalitis caused by Naegleria fowleri"^^xsd:string) AnnotationAssertion( "Naegleria fowleri infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050242"^^xsd:string) AnnotationAssertion(rdfs:label "primary amebic meningoencephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granulomatous amebic encephalitis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm"^^xsd:string) "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12651"^^xsd:string) AnnotationAssertion( "acanthamoeba encephalitis"^^xsd:string) AnnotationAssertion( "acanthamoeba granulomatous encephalitis"^^xsd:string) AnnotationAssertion( "granulomatous amebic encephalitis due to acanthamoeba"^^xsd:string) AnnotationAssertion( "granulomatous amoebic encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050246"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous amebic encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (philophthalmiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050250"^^xsd:string) AnnotationAssertion(rdfs:label "philophthalmiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coenurosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Coenurosis"^^xsd:string) Annotation( "https://www.cdc.gov/dpdx/coenurosis/index.html"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050251"^^xsd:string) AnnotationAssertion(rdfs:label "coenurosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mesocestoidiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002492"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050253"^^xsd:string) AnnotationAssertion(rdfs:label "mesocestoidiasis"^^xsd:string) SubClassOf( ) # Class: (acanthocephaliasis) AnnotationAssertion(Annotation( "https://www.cdc.gov/dpdx/acanthocephaliasis/index.html"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002493"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050254"^^xsd:string) AnnotationAssertion(rdfs:label "acanthocephaliasis"^^xsd:string) SubClassOf( ) # Class: (angiostrongyliasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Angiostrongyliasis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:683"^^xsd:string) AnnotationAssertion( "MESH:C536369"^^xsd:string) AnnotationAssertion( "Angiostrongylus cantonensis infection"^^xsd:string) AnnotationAssertion( "Angiostrongylus costaricensis infection"^^xsd:string) AnnotationAssertion( "Intravitreal angiostrongyliasis"^^xsd:string) AnnotationAssertion( "Parastrongylus costaricensis infection"^^xsd:string) AnnotationAssertion( "abdominal angiostrongyliasis"^^xsd:string) AnnotationAssertion( "human eosinophilic meningitis"^^xsd:string) AnnotationAssertion( "rat lungworm infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050256"^^xsd:string) AnnotationAssertion(rdfs:label "angiostrongyliasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (baylisascariasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Baylisascaris"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050259"^^xsd:string) AnnotationAssertion(rdfs:label "baylisascariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dioctophymiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050260"^^xsd:string) AnnotationAssertion(rdfs:label "dioctophymiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thelaziasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm"^^xsd:string) "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050261"^^xsd:string) AnnotationAssertion(rdfs:label "thelaziasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tungiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tungiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm"^^xsd:string) "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001445"^^xsd:string) AnnotationAssertion( "GARD:393"^^xsd:string) AnnotationAssertion( "MESH:D058285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050266"^^xsd:string) AnnotationAssertion(rdfs:label "tungiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ophthalmomyiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string) "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050268"^^xsd:string) AnnotationAssertion(rdfs:label "ophthalmomyiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trichomonas vaginalis trichomoniasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trichomoniasis"^^xsd:string) "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007521"^^xsd:string) AnnotationAssertion( "ICD10CM:A59.00"^^xsd:string) AnnotationAssertion( "MESH:D014247"^^xsd:string) AnnotationAssertion( "NCI:C35083"^^xsd:string) AnnotationAssertion( "Trichomonas Vaginitides"^^xsd:string) AnnotationAssertion( "Trichomonas vaginitis"^^xsd:string) AnnotationAssertion( "urogenital trichomonas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050269"^^xsd:string) AnnotationAssertion(rdfs:label "Trichomonas vaginalis trichomoniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trichomonas tenax trichomoniasis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/20427914"^^xsd:string) "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. (DO)"^^xsd:string) AnnotationAssertion( "MONDO:0030906"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050270"^^xsd:string) AnnotationAssertion(rdfs:label "Trichomonas tenax trichomoniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (basidiobolomycosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Basidiobolomycosis"^^xsd:string) "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000302"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050278"^^xsd:string) AnnotationAssertion(rdfs:label "basidiobolomycosis"^^xsd:string) SubClassOf( ) # Class: (conidiobolomycosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Conidiobolomycosis"^^xsd:string) "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000303"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050279"^^xsd:string) AnnotationAssertion(rdfs:label "conidiobolomycosis"^^xsd:string) SubClassOf( ) # Class: (penicilliosis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/16418525"^^xsd:string) "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050288"^^xsd:string) AnnotationAssertion(rdfs:label "penicilliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fusariosis) AnnotationAssertion(Annotation( "PMID:14748803"^^xsd:string) "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001795"^^xsd:string) AnnotationAssertion( "MESH:D060585"^^xsd:string) AnnotationAssertion( "Disseminated Fusariosis"^^xsd:string) AnnotationAssertion( "Fusarioses"^^xsd:string) AnnotationAssertion( "Fusarium Infection"^^xsd:string) AnnotationAssertion( "Fusarium Infections"^^xsd:string) AnnotationAssertion( "Invasive Fusarioses"^^xsd:string) AnnotationAssertion( "Invasive Fusariosis"^^xsd:string) AnnotationAssertion( "Invasive Pulmonary Fusarioses"^^xsd:string) AnnotationAssertion( "Invasive Pulmonary Fusariosis"^^xsd:string) AnnotationAssertion( "Pulmonary Fusarioses"^^xsd:string) AnnotationAssertion( "disseminated fusarioses"^^xsd:string) AnnotationAssertion( "pulmonary fusariosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050289"^^xsd:string) AnnotationAssertion(rdfs:label "fusariosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trichosporonosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Trichosporonosis"^^xsd:string) "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D060586"^^xsd:string) AnnotationAssertion( "Disseminated Trichosporonosis"^^xsd:string) AnnotationAssertion( "Invasive Trichosporonoses"^^xsd:string) AnnotationAssertion( "Invasive Trichosporonosis"^^xsd:string) AnnotationAssertion( "Japanese Summer Type Hypersensitivity Pneumonitis"^^xsd:string) AnnotationAssertion( "Summer Type Hypersensitivity Pneumonitis"^^xsd:string) AnnotationAssertion( "Summer-Type Hypersensitivity Pneumonitides"^^xsd:string) AnnotationAssertion( "disseminated trichosporonoses"^^xsd:string) AnnotationAssertion( "trichosporonoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050290"^^xsd:string) AnnotationAssertion(rdfs:label "trichosporonosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parasitic Ichthyosporea infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mesomycetozoea"^^xsd:string) "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050291"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic Ichthyosporea infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary systemic mycosis) AnnotationAssertion(Annotation( "https://dermnetnz.org/topics/skin-manifestations-of-systemic-mycoses"^^xsd:string) "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000308"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050292"^^xsd:string) AnnotationAssertion(rdfs:label "primary systemic mycosis"^^xsd:string) SubClassOf( ) # Class: (aniseikonia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Aniseikonia"^^xsd:string) "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001266"^^xsd:string) AnnotationAssertion( "MESH:D000839"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050304"^^xsd:string) AnnotationAssertion(rdfs:label "aniseikonia"^^xsd:string) SubClassOf( ) # Class: (Alkhumra hemorrhagic fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alkhurma_virus"^^xsd:string) Annotation( "https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/"^^xsd:string) Annotation( "https://www.cdc.gov/alkhurma/about/"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO)"^^xsd:string) AnnotationAssertion( "MONDO:0000310"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Alkhurma hemorrhagic fever"^^xsd:string) AnnotationAssertion( "DOID:0050308"^^xsd:string) AnnotationAssertion(rdfs:label "Alkhumra hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (congenital hypothyroidism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_hypothyroidism"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism"^^xsd:string) "A hypothyroidism that is present at birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228355"^^xsd:string) AnnotationAssertion( "GARD:1487"^^xsd:string) AnnotationAssertion( "ICD10CM:E00.1"^^xsd:string) AnnotationAssertion( "ICD9CM:243"^^xsd:string) AnnotationAssertion( "MESH:D003409"^^xsd:string) AnnotationAssertion( "MIM:PS275200"^^xsd:string) AnnotationAssertion( "NCI:C26734"^^xsd:string) AnnotationAssertion( "NCI:C98921"^^xsd:string) AnnotationAssertion( "Cretinism"^^xsd:string) AnnotationAssertion( "Endemic Cretinism"^^xsd:string) AnnotationAssertion( "Fetal Iodine Deficiency Disorder"^^xsd:string) AnnotationAssertion( "congenital myxedema"^^xsd:string) AnnotationAssertion( "experimental congenital hypothyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050328"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hypothyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lacrimoauriculodentodigital syndrome 1) AnnotationAssertion(Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome"^^xsd:string) "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9004849"^^xsd:string) AnnotationAssertion( "MIM:149730"^^xsd:string) AnnotationAssertion( "LADD Syndrome 1"^^xsd:string) AnnotationAssertion( "LADD1"^^xsd:string) AnnotationAssertion( "Lacrimo-auriculo-dento-digital syndrome 1"^^xsd:string) AnnotationAssertion( "Levy Hollister syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050331"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimoauriculodentodigital syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (enlarged vestibular aqueduct) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct"^^xsd:string) "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:8651"^^xsd:string) AnnotationAssertion( "RDO:9003730"^^xsd:string) AnnotationAssertion( "EVA"^^xsd:string) AnnotationAssertion( "large vestibular aqueduct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050332"^^xsd:string) AnnotationAssertion(rdfs:label "enlarged vestibular aqueduct"^^xsd:string) SubClassOf( ) # Class: (bradyopsia) AnnotationAssertion(Annotation( "PMID:17826834"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/bradyopsia/"^^xsd:string) "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12299"^^xsd:string) AnnotationAssertion( "MESH:C564243"^^xsd:string) AnnotationAssertion( "MIM:PS608415"^^xsd:string) AnnotationAssertion( "ORDO:75374"^^xsd:string) AnnotationAssertion( "PERRS"^^xsd:string) AnnotationAssertion( "prolonged electroretinal response suppression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050335"^^xsd:string) AnnotationAssertion(rdfs:label "bradyopsia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypophosphatemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypophosphatemia"^^xsd:string) "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D017674"^^xsd:string) AnnotationAssertion( "hypophosphatemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050336"^^xsd:string) AnnotationAssertion(rdfs:label "hypophosphatemia"^^xsd:string) SubClassOf( ) # Class: (primary bacterial infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Infectious_disease"^^xsd:string) "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO)"^^xsd:string) AnnotationAssertion( "DOID:13238"^^xsd:string) AnnotationAssertion( "primary bacterial infectious diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050338"^^xsd:string) AnnotationAssertion(rdfs:label "primary bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (commensal bacterial infectious disease) AnnotationAssertion(Annotation( "PMID:24727150"^^xsd:string) Annotation( "https://www.microbiologyinpictures.com/introduction.html"^^xsd:string) "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9002545"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050339"^^xsd:string) AnnotationAssertion(rdfs:label "commensal bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (opportunistic bacterial infectious disease) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545"^^xsd:string) "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050340"^^xsd:string) AnnotationAssertion(rdfs:label "opportunistic bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (foodborne botulism) AnnotationAssertion(Annotation( "https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050352"^^xsd:string) AnnotationAssertion(rdfs:label "foodborne botulism"^^xsd:string) SubClassOf( ) # Class: (wound botulism) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs270/en/"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0015803"^^xsd:string) AnnotationAssertion( "wound botulisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050353"^^xsd:string) AnnotationAssertion(rdfs:label "wound botulism"^^xsd:string) SubClassOf( ) # Class: (infant botulism) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2002/0401/p1388.html"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "infantile botulism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050354"^^xsd:string) AnnotationAssertion(rdfs:label "infant botulism"^^xsd:string) SubClassOf( ) # Class: (glandular tularemia) AnnotationAssertion(Annotation( "http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string) "A tularemia that results_in swelling of regional lymph glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050382"^^xsd:string) AnnotationAssertion(rdfs:label "glandular tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (typhoidal tularemia) AnnotationAssertion(Annotation( "PMID:29635071"^^xsd:string) "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050383"^^xsd:string) AnnotationAssertion(rdfs:label "typhoidal tularemia"^^xsd:string) SubClassOf( ) # Class: (nonpapillary renal cell carcinoma) AnnotationAssertion(Annotation( "PMID:2921777"^^xsd:string) Annotation( "PMID:8415591"^^xsd:string) "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050387"^^xsd:string) AnnotationAssertion(rdfs:label "nonpapillary renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (Carrion's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carrion%27s_disease"^^xsd:string) "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002611"^^xsd:string) AnnotationAssertion( "Carrion disease"^^xsd:string) AnnotationAssertion( "Carrions disease"^^xsd:string) AnnotationAssertion( "Oroya fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050398"^^xsd:string) AnnotationAssertion(rdfs:label "Carrion's disease"^^xsd:string) SubClassOf( ) # Class: (complement factor I deficiency) AnnotationAssertion(Annotation( "MIM:610984"^^xsd:string) "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610984"^^xsd:string) AnnotationAssertion( "MESH:C572568"^^xsd:string) AnnotationAssertion( "C3 glomerulopathy 2"^^xsd:string) AnnotationAssertion( "C3 inactivator deficiency"^^xsd:string) AnnotationAssertion( "C3G2"^^xsd:string) AnnotationAssertion( "CFID"^^xsd:string) AnnotationAssertion( "complement component 3 inactivator deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050419"^^xsd:string) AnnotationAssertion(rdfs:label "complement factor I deficiency"^^xsd:string) SubClassOf( ) # Class: (familial adenomatous polyposis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis"^^xsd:string) Annotation( "https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1345/"^^xsd:string) "An intestinal disease that is characterized by predisposition to colon cancer. (DO)"^^xsd:string) AnnotationAssertion( "APC-associated polyposis disorders"^^xsd:string) AnnotationAssertion( "CLASSIC OR ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS"^^xsd:string) AnnotationAssertion( "MYH-associated polyposes"^^xsd:string) AnnotationAssertion( "MYH-associated polyposis"^^xsd:string) AnnotationAssertion( "EFO:1000633"^^xsd:string) AnnotationAssertion( "GARD:6408"^^xsd:string) AnnotationAssertion( "MESH:D011125"^^xsd:string) AnnotationAssertion( "MIM:PS175100"^^xsd:string) AnnotationAssertion( "NCI:C3339"^^xsd:string) AnnotationAssertion( "ORDO:733"^^xsd:string) AnnotationAssertion( "APC"^^xsd:string) AnnotationAssertion( "Adenomatous Intestinal Polyposis"^^xsd:string) AnnotationAssertion( "Adenomatous Polyposis Coli"^^xsd:string) AnnotationAssertion( "Adenomatous Polyposis Colus"^^xsd:string) AnnotationAssertion( "Adenomatous Polyposis of the Colon"^^xsd:string) AnnotationAssertion( "FPC"^^xsd:string) AnnotationAssertion( "Familial Adenomatous Polyposes"^^xsd:string) AnnotationAssertion( "Familial Adenomatous Polyposis Coli"^^xsd:string) AnnotationAssertion( "Familial Adenomatous Polyposis of the Colon"^^xsd:string) AnnotationAssertion( "Familial Intestinal Polyposes"^^xsd:string) AnnotationAssertion( "Familial Intestinal Polyposis"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposes"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposi"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposis"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposis Syndrome"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposus"^^xsd:string) AnnotationAssertion( "Familial Polyposis Coli"^^xsd:string) AnnotationAssertion( "Familial Polyposis Colus"^^xsd:string) AnnotationAssertion( "Familial Polyposis Syndrome"^^xsd:string) AnnotationAssertion( "Familial Polyposis Syndromes"^^xsd:string) AnnotationAssertion( "Familial Polyposis of the Colon"^^xsd:string) AnnotationAssertion( "Hereditary Polyposis Coli"^^xsd:string) AnnotationAssertion( "Hereditary Polyposis Colus"^^xsd:string) AnnotationAssertion( "adenomatous colonic polyposis"^^xsd:string) AnnotationAssertion( "adenomatous intestinal polyposes"^^xsd:string) AnnotationAssertion( "polyposis coli"^^xsd:string) AnnotationAssertion( "polyposis colus"^^xsd:string) AnnotationAssertion( "AAPC"^^xsd:string) AnnotationAssertion( "ADENOMATOUS POLYPOSIS COLI, ATTENUATED"^^xsd:string) AnnotationAssertion( "BRAIN TUMOR-POLYPOSIS SYNDROME 2"^^xsd:string) AnnotationAssertion( "BTPS2"^^xsd:string) AnnotationAssertion( "HEREDITARY MIXED POLYPOSIS"^^xsd:string) AnnotationAssertion( "polymerase proofreading-related adenomatous polyposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050424"^^xsd:string) AnnotationAssertion(rdfs:label "familial adenomatous polyposis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (restless legs syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Restless_legs_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm"^^xsd:string) "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610438"^^xsd:string) AnnotationAssertion( "MIM:610439"^^xsd:string) AnnotationAssertion( "MIM:611185"^^xsd:string) AnnotationAssertion( "MIM:611242"^^xsd:string) AnnotationAssertion( "MIM:612853"^^xsd:string) AnnotationAssertion( "MIM:615197"^^xsd:string) AnnotationAssertion( "EFO:0004270"^^xsd:string) AnnotationAssertion( "GARD:11926"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.81"^^xsd:string) AnnotationAssertion( "ICD9CM:333.94"^^xsd:string) AnnotationAssertion( "MESH:D012148"^^xsd:string) AnnotationAssertion( "MIM:PS102300"^^xsd:string) AnnotationAssertion( "NCI:C84501"^^xsd:string) AnnotationAssertion( "Ekbom syndrome"^^xsd:string) AnnotationAssertion( "PERIODIC LIMB MOVEMENTS IN SLEEP"^^xsd:string) AnnotationAssertion( "Restless Leg Syndrome"^^xsd:string) AnnotationAssertion( "Restless Legs"^^xsd:string) AnnotationAssertion( "WED"^^xsd:string) AnnotationAssertion( "Willis Ekbom Disease"^^xsd:string) AnnotationAssertion( "Willis Ekbom Syndrome"^^xsd:string) AnnotationAssertion( "Wittmaack Ekbom syndrome"^^xsd:string) AnnotationAssertion( "hereditary acromelalgia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RLS3"^^xsd:string) AnnotationAssertion( "RLS4"^^xsd:string) AnnotationAssertion( "RLS5"^^xsd:string) AnnotationAssertion( "RLS6"^^xsd:string) AnnotationAssertion( "RLS7"^^xsd:string) AnnotationAssertion( "RLS8"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "DOID:0050425"^^xsd:string) AnnotationAssertion(rdfs:label "restless legs syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stevens-Johnson syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome"^^xsd:string) "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608579"^^xsd:string) AnnotationAssertion( "EFO:0004276"^^xsd:string) AnnotationAssertion( "EFO:0004775"^^xsd:string) AnnotationAssertion( "GARD:7700"^^xsd:string) AnnotationAssertion( "ICD10CM:L51.1"^^xsd:string) AnnotationAssertion( "ICD9CM:695.13"^^xsd:string) AnnotationAssertion( "MESH:D013262"^^xsd:string) AnnotationAssertion( "NCI:C79484"^^xsd:string) AnnotationAssertion( "NCI:C79777"^^xsd:string) AnnotationAssertion( "Lyell Syndrome"^^xsd:string) AnnotationAssertion( "Lyell's Syndrome"^^xsd:string) AnnotationAssertion( "Lyell's Syndromes"^^xsd:string) AnnotationAssertion( "Mycoplasma Induced Stevens Johnson Syndrome"^^xsd:string) AnnotationAssertion( "Nonstaphylococcal Scalded Skin Syndrome"^^xsd:string) AnnotationAssertion( "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Stevens Johnson Syndrome Toxic Epidermal Necrolysis"^^xsd:string) AnnotationAssertion( "Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum"^^xsd:string) AnnotationAssertion( "Toxic Epidermal Necrolyses"^^xsd:string) AnnotationAssertion( "drug-induced Stevens-Johnson syndrome"^^xsd:string) AnnotationAssertion( "toxic epidermal necrolysis"^^xsd:string) AnnotationAssertion( "STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "carbamazepine-induced hypersensitivity syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "toxic epidermal necrolysis, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050426"^^xsd:string) AnnotationAssertion(rdfs:label "Stevens-Johnson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (xeroderma pigmentosum) AnnotationAssertion(Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract"^^xsd:string) "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7910"^^xsd:string) AnnotationAssertion( "MESH:D014983"^^xsd:string) AnnotationAssertion( "NCI:C3452"^^xsd:string) AnnotationAssertion( "ORDO:910"^^xsd:string) AnnotationAssertion( "Kaposi disease"^^xsd:string) AnnotationAssertion( "Kaposi's disease"^^xsd:string) AnnotationAssertion( "Kaposis disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050427"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonepidermolytic palmoplantar keratoderma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Palmoplantar_keratoderma"^^xsd:string) "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000743"^^xsd:string) AnnotationAssertion( "MESH:C563422"^^xsd:string) AnnotationAssertion( "NEPPK"^^xsd:string) AnnotationAssertion( "NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS"^^xsd:string) AnnotationAssertion( "PPKNE"^^xsd:string) AnnotationAssertion( "Thost-Unna Syndrome"^^xsd:string) AnnotationAssertion( "Unna-Thost Syndrome"^^xsd:string) AnnotationAssertion( "diffuse nonepidermolytic palmomplantar keratoderma"^^xsd:string) AnnotationAssertion( "diffuse nonepidermolytic palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "diffuse orthohyperkeratotic keratoderma"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris diffusa circumscripta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050428"^^xsd:string) AnnotationAssertion(rdfs:label "nonepidermolytic palmoplantar keratoderma"^^xsd:string) SubClassOf( ) # Class: (Hailey-Hailey disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/hailey-hailey-disease/"^^xsd:string) "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169600"^^xsd:string) AnnotationAssertion( "GARD:6559"^^xsd:string) AnnotationAssertion( "MESH:D016506"^^xsd:string) AnnotationAssertion( "NCI:C82865"^^xsd:string) AnnotationAssertion( "ATP2C1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BCPM"^^xsd:string) AnnotationAssertion( "HHD"^^xsd:string) AnnotationAssertion( "benign chronic pemphigus"^^xsd:string) AnnotationAssertion( "benign familial pemphigus"^^xsd:string) AnnotationAssertion( "familial benign chronic pemphigus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050429"^^xsd:string) AnnotationAssertion(rdfs:label "Hailey-Hailey disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple endocrine neoplasia type 2A) AnnotationAssertion(Annotation( "PMID:15965261"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract"^^xsd:string) "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)"^^xsd:string) AnnotationAssertion( "MEA II"^^xsd:string) AnnotationAssertion( "MEN 2"^^xsd:string) AnnotationAssertion( "MEN II"^^xsd:string) AnnotationAssertion( "MEN2 Disease"^^xsd:string) AnnotationAssertion( "MEN2 Phenotype: Unclassified"^^xsd:string) AnnotationAssertion( "MEN2 Phenotype: Unknown"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia 2"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia Type 2"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasia II"^^xsd:string) AnnotationAssertion( "ICD10CM:E31.22"^^xsd:string) AnnotationAssertion( "ICD9CM:258.02"^^xsd:string) AnnotationAssertion( "MESH:D018813"^^xsd:string) AnnotationAssertion( "MIM:171400"^^xsd:string) AnnotationAssertion( "MONDO:0008234"^^xsd:string) AnnotationAssertion( "NCI:C3226"^^xsd:string) AnnotationAssertion( "ORDO:247698"^^xsd:string) AnnotationAssertion( "FMTC AND UNCLASSIFIED"^^xsd:string) AnnotationAssertion( "MEA 2A"^^xsd:string) AnnotationAssertion( "MEA IIa"^^xsd:string) AnnotationAssertion( "MEN 2A syndrome"^^xsd:string) AnnotationAssertion( "MEN 2a"^^xsd:string) AnnotationAssertion( "MEN IIa"^^xsd:string) AnnotationAssertion( "MEN-2A Syndromes"^^xsd:string) AnnotationAssertion( "MEN2a"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia, Type IIa"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasms Type 2a"^^xsd:string) AnnotationAssertion( "PTC syndrome"^^xsd:string) AnnotationAssertion( "Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma"^^xsd:string) AnnotationAssertion( "Sipple syndrome"^^xsd:string) AnnotationAssertion( "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease"^^xsd:string) AnnotationAssertion( "familial medullary thyroid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MEN2A and Unclassified"^^xsd:string) AnnotationAssertion( "DOID:0050430"^^xsd:string) AnnotationAssertion(rdfs:label "multiple endocrine neoplasia type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular cardiomyopathy) AnnotationAssertion(Annotation( "PMID:31637441"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy"^^xsd:string) Annotation( "http://my.clevelandclinic.org/services/heart/disorders/arvd"^^xsd:string) Annotation( "http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html"^^xsd:string) "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "EFO:0002631"^^xsd:string) AnnotationAssertion( "MESH:D019571"^^xsd:string) AnnotationAssertion( "MIM:PS107970"^^xsd:string) AnnotationAssertion( "MONDO:0016587"^^xsd:string) AnnotationAssertion( "NCI:C84571"^^xsd:string) AnnotationAssertion( "ORDO:217656"^^xsd:string) AnnotationAssertion( "ORDO:247"^^xsd:string) AnnotationAssertion( "ARVC"^^xsd:string) AnnotationAssertion( "ARVD"^^xsd:string) AnnotationAssertion( "ARVD-C"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Dysplasia"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, ARVC"^^xsd:string) AnnotationAssertion( "right ventricular ACM"^^xsd:string) AnnotationAssertion( "right ventricular cardiomyopathy"^^xsd:string) AnnotationAssertion( "FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA"^^xsd:string) AnnotationAssertion( "TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050431"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Asperger syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Asperger_syndrome"^^xsd:string) Annotation( "http://www.neurodevnet.ca"^^xsd:string) "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608631"^^xsd:string) AnnotationAssertion( "MIM:608638"^^xsd:string) AnnotationAssertion( "MIM:608781"^^xsd:string) AnnotationAssertion( "MIM:609954"^^xsd:string) AnnotationAssertion( "EFO:0003757"^^xsd:string) AnnotationAssertion( "GARD:5855"^^xsd:string) AnnotationAssertion( "ICD10CM:F84.5"^^xsd:string) AnnotationAssertion( "MESH:D020817"^^xsd:string) AnnotationAssertion( "MIM:PS608638"^^xsd:string) AnnotationAssertion( "MONDO:0005259"^^xsd:string) AnnotationAssertion( "NCI:C97159"^^xsd:string) AnnotationAssertion( "ORDO:1162"^^xsd:string) AnnotationAssertion( "ASPG"^^xsd:string) AnnotationAssertion( "Asperger disease"^^xsd:string) AnnotationAssertion( "Asperger diseases"^^xsd:string) AnnotationAssertion( "Asperger disorder"^^xsd:string) AnnotationAssertion( "Asperger disorders"^^xsd:string) AnnotationAssertion( "Asperger's Disease"^^xsd:string) AnnotationAssertion( "Asperger's diseases"^^xsd:string) AnnotationAssertion( "Asperger's disorder"^^xsd:string) AnnotationAssertion( "Asperger's syndrome"^^xsd:string) AnnotationAssertion( "Aspergers disease"^^xsd:string) AnnotationAssertion( "Aspergers disorder"^^xsd:string) AnnotationAssertion( "Aspergers syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ASPG1"^^xsd:string) AnnotationAssertion( "ASPG2"^^xsd:string) AnnotationAssertion( "ASPG3"^^xsd:string) AnnotationAssertion( "ASPG4"^^xsd:string) AnnotationAssertion( "ASPGX1"^^xsd:string) AnnotationAssertion( "ASPGX2"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, X-Linked, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, X-Linked, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "DOID:0050432"^^xsd:string) AnnotationAssertion(rdfs:label "Asperger syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fatal familial insomnia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fatal_familial_insomnia"^^xsd:string) "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600072"^^xsd:string) AnnotationAssertion( "GARD:6429"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.83"^^xsd:string) AnnotationAssertion( "ICD9CM:046.72"^^xsd:string) AnnotationAssertion( "MESH:D034062"^^xsd:string) AnnotationAssertion( "NCI:C84711"^^xsd:string) AnnotationAssertion( "FFI"^^xsd:string) AnnotationAssertion( "familial fatal insomnias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050433"^^xsd:string) AnnotationAssertion(rdfs:label "fatal familial insomnia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Andersen-Tawil syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Long_QT_syndrome"^^xsd:string) "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9453"^^xsd:string) AnnotationAssertion( "MESH:D050030"^^xsd:string) AnnotationAssertion( "MIM:170390"^^xsd:string) AnnotationAssertion( "MONDO:0008222"^^xsd:string) AnnotationAssertion( "NCI:C84559"^^xsd:string) AnnotationAssertion( "ORDO:37553"^^xsd:string) AnnotationAssertion( "ATS"^^xsd:string) AnnotationAssertion( "Andersen cardiodysrhythmic periodic paralysis"^^xsd:string) AnnotationAssertion( "Andersen cardiodysrythmic periodic paralysis"^^xsd:string) AnnotationAssertion( "Andersen syndrome"^^xsd:string) AnnotationAssertion( "LQT7"^^xsd:string) AnnotationAssertion( "long QT syndrome 7"^^xsd:string) AnnotationAssertion( "potassium-sensitive cardiodysrhythmic type"^^xsd:string) AnnotationAssertion( "potassium-sensitive cardiodysrhythmic type periodic paralysis"^^xsd:string) AnnotationAssertion( "potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050434"^^xsd:string) AnnotationAssertion(rdfs:label "Andersen-Tawil syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mulibrey nanism) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/mulibrey-nanism/"^^xsd:string) "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538604"^^xsd:string) AnnotationAssertion( "MIM:253250"^^xsd:string) AnnotationAssertion( "GARD:95"^^xsd:string) AnnotationAssertion( "MESH:D050336"^^xsd:string) AnnotationAssertion( "NCI:C84906"^^xsd:string) AnnotationAssertion( "ORDO:2576"^^xsd:string) AnnotationAssertion( "MUL"^^xsd:string) AnnotationAssertion( "Perheentupa syndrome"^^xsd:string) AnnotationAssertion( "TRIM37-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "mulibrey growth disorder"^^xsd:string) AnnotationAssertion( "mulibrey nanism syndrome"^^xsd:string) AnnotationAssertion( "muscle liver brain eye nanism"^^xsd:string) AnnotationAssertion( "pericardial constriction and growth failure"^^xsd:string) AnnotationAssertion( "pericardial constriction with growth failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050436"^^xsd:string) AnnotationAssertion(rdfs:label "mulibrey nanism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Danon disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/danon-disease/"^^xsd:string) "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300257"^^xsd:string) AnnotationAssertion( "EFO:1001333"^^xsd:string) AnnotationAssertion( "GARD:9730"^^xsd:string) AnnotationAssertion( "MESH:D052120"^^xsd:string) AnnotationAssertion( "NCI:C84735"^^xsd:string) AnnotationAssertion( "Antopol disease"^^xsd:string) AnnotationAssertion( "GSD IIb"^^xsd:string) AnnotationAssertion( "GSD2B"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease IIb"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease Limited to the Heart"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease Type 2B"^^xsd:string) AnnotationAssertion( "LAMP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked vacuolar cardiomyopathy and myopathy"^^xsd:string) AnnotationAssertion( "glycogen storage cardiomyopathies"^^xsd:string) AnnotationAssertion( "glycogen storage cardiomyopathy"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IIB"^^xsd:string) AnnotationAssertion( "lysosomal glycogen storage disease with normal acid maltase"^^xsd:string) AnnotationAssertion( "lysosomal glycogen storage disease without acid maltase deficiency"^^xsd:string) AnnotationAssertion( "pseudoglycogenosis 2"^^xsd:string) AnnotationAssertion( "pseudoglycogenosis II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050437"^^xsd:string) AnnotationAssertion(rdfs:label "Danon disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Frasier syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/frasier-syndrome"^^xsd:string) "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:136680"^^xsd:string) AnnotationAssertion( "GARD:2375"^^xsd:string) AnnotationAssertion( "MESH:D052159"^^xsd:string) AnnotationAssertion( "NCI:C122805"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050438"^^xsd:string) AnnotationAssertion(rdfs:label "Frasier syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Usher syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Usher_syndrome"^^xsd:string) "A syndrome characterized by a combination of hearing loss and visual impairment. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7843"^^xsd:string) AnnotationAssertion( "MESH:D052245"^^xsd:string) AnnotationAssertion( "MIM:PS276900"^^xsd:string) AnnotationAssertion( "NCI:C85217"^^xsd:string) AnnotationAssertion( "ORDO:886"^^xsd:string) AnnotationAssertion( "Graefe Usher syndrome"^^xsd:string) AnnotationAssertion( "Hallgren syndrome"^^xsd:string) AnnotationAssertion( "Usher syndromes"^^xsd:string) AnnotationAssertion( "Usher's syndrome"^^xsd:string) AnnotationAssertion( "Ushers syndrome"^^xsd:string) AnnotationAssertion( "dystrophia retinae pigmentosa dysostosis syndrome"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa and congenital deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050439"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy) AnnotationAssertion(Annotation( "MIM:608600"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy"^^xsd:string) "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11962"^^xsd:string) AnnotationAssertion( "MESH:D052496"^^xsd:string) AnnotationAssertion( "MIM:PS151660"^^xsd:string) AnnotationAssertion( "NCI:C84708"^^xsd:string) AnnotationAssertion( "ORDO:98306"^^xsd:string) AnnotationAssertion( "Koberling Dunnigan Syndrome"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophies"^^xsd:string) AnnotationAssertion( "reverse partial lipodystrophies"^^xsd:string) AnnotationAssertion( "reverse partial lipodystrophy"^^xsd:string) AnnotationAssertion( "lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050440"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy"^^xsd:string) SubClassOf( ) # Class: (mucosulfatidosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency"^^xsd:string) "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.26"^^xsd:string) AnnotationAssertion( "MESH:D052517"^^xsd:string) AnnotationAssertion( "MIM:272200"^^xsd:string) AnnotationAssertion( "MONDO:0010088"^^xsd:string) AnnotationAssertion( "NCI:C84908"^^xsd:string) AnnotationAssertion( "MSD"^^xsd:string) AnnotationAssertion( "juvenile sulfatidoses"^^xsd:string) AnnotationAssertion( "juvenile sulfatidosis"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiencies"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiency"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiency disease"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiency diseases"^^xsd:string) AnnotationAssertion( "multiple sulphatase deficiency disease"^^xsd:string) AnnotationAssertion( "sulfatidosis juvenile, Austin type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050441"^^xsd:string) AnnotationAssertion(rdfs:label "mucosulfatidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infantile Refsum disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Infantile_Refsum_disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK560618/"^^xsd:string) "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D052919"^^xsd:string) AnnotationAssertion( "NCI:C84789"^^xsd:string) AnnotationAssertion( "Infantile Refsums Disease"^^xsd:string) AnnotationAssertion( "NEONATAL ADRENOLEUCODYSTROPHY"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)"^^xsd:string) AnnotationAssertion( "Refsum disease, infantile form"^^xsd:string) AnnotationAssertion( "autosomal neonatal adrenoleukodystrophy"^^xsd:string) AnnotationAssertion( "infantile Refsum's disease"^^xsd:string) AnnotationAssertion( "infantile form of phytanic acid storage disease"^^xsd:string) AnnotationAssertion( "infantile phytanic acid storage disease"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050444"^^xsd:string) AnnotationAssertion(rdfs:label "infantile Refsum disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked hypophosphatemic rickets) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/X-linked_hypophosphatemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK83985/"^^xsd:string) "A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)"^^xsd:string) AnnotationAssertion( "PHEX-related condition"^^xsd:string) AnnotationAssertion( "GARD:12943"^^xsd:string) AnnotationAssertion( "MIM:307800"^^xsd:string) AnnotationAssertion( "NCI:C85234"^^xsd:string) AnnotationAssertion( "FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS"^^xsd:string) AnnotationAssertion( "X-linked dominant hypophosphatemic rickets"^^xsd:string) AnnotationAssertion( "X-linked hypophosphatemia"^^xsd:string) AnnotationAssertion( "X-linked vitamin D resistant rickets"^^xsd:string) AnnotationAssertion( "XLH"^^xsd:string) AnnotationAssertion( "XLHR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050445"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (white sponge nevus) AnnotationAssertion(Annotation( "PMID:29034652"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/White_sponge_nevus"^^xsd:string) "A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8501"^^xsd:string) AnnotationAssertion( "MESH:D053529"^^xsd:string) AnnotationAssertion( "MIM:PS193900"^^xsd:string) AnnotationAssertion( "NCI:C84760"^^xsd:string) AnnotationAssertion( "ORDO:171723"^^xsd:string) AnnotationAssertion( "hereditary mucosal leukokeratoses"^^xsd:string) AnnotationAssertion( "hereditary mucosal leukokeratosis"^^xsd:string) AnnotationAssertion( "white sponge nevus of Cannon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050448"^^xsd:string) AnnotationAssertion(rdfs:label "white sponge nevus"^^xsd:string) SubClassOf( ) # Class: (pachyonychia congenita) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/pachyonychia-congenita"^^xsd:string) "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10753"^^xsd:string) AnnotationAssertion( "MESH:D053549"^^xsd:string) AnnotationAssertion( "MIM:PS167200"^^xsd:string) AnnotationAssertion( "NCI:C84986"^^xsd:string) AnnotationAssertion( "ORDO:2309"^^xsd:string) AnnotationAssertion( "PC-K6A"^^xsd:string) AnnotationAssertion( "congenital pachyonychia"^^xsd:string) AnnotationAssertion( "congenital pachyonychias"^^xsd:string) AnnotationAssertion( "pachyonychia congenita syndrome"^^xsd:string) AnnotationAssertion( "pachyonychia congenita syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050449"^^xsd:string) AnnotationAssertion(rdfs:label "pachyonychia congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gitelman syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gitelman-syndrome"^^xsd:string) "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). (DO)"^^xsd:string) AnnotationAssertion( "MIM:263800"^^xsd:string) AnnotationAssertion( "GARD:8547"^^xsd:string) AnnotationAssertion( "MESH:D053579"^^xsd:string) AnnotationAssertion( "NCI:C84730"^^xsd:string) AnnotationAssertion( "GTLMNS"^^xsd:string) AnnotationAssertion( "Gitelman's syndrome"^^xsd:string) AnnotationAssertion( "SLC12A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "familial hypokalemia hypomagnesemia"^^xsd:string) AnnotationAssertion( "potassium and magnesium depletion"^^xsd:string) AnnotationAssertion( "primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria"^^xsd:string) AnnotationAssertion( "tubular hypomagnesemia hypokalemia with hypocalcuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050450"^^xsd:string) AnnotationAssertion(rdfs:label "Gitelman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brugada syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brugada_syndrome"^^xsd:string) "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004691"^^xsd:string) AnnotationAssertion( "GARD:1030"^^xsd:string) AnnotationAssertion( "MESH:D053840"^^xsd:string) AnnotationAssertion( "MIM:PS601144"^^xsd:string) AnnotationAssertion( "MONDO:0015263"^^xsd:string) AnnotationAssertion( "NCI:C142891"^^xsd:string) AnnotationAssertion( "ORDO:130"^^xsd:string) AnnotationAssertion( "Bangungut"^^xsd:string) AnnotationAssertion( "Brugada ECG pattern"^^xsd:string) AnnotationAssertion( "Brugada Type ECG Pattern"^^xsd:string) AnnotationAssertion( "Brugada syndrome (shorter-than-normal QT interval)"^^xsd:string) AnnotationAssertion( "Brugada type idiopathic ventricular fibrillation"^^xsd:string) AnnotationAssertion( "Pokkuri death syndrome"^^xsd:string) AnnotationAssertion( "SUNDS"^^xsd:string) AnnotationAssertion( "dream disease"^^xsd:string) AnnotationAssertion( "sudden unexplained death syndrome"^^xsd:string) AnnotationAssertion( "sudden unexplained nocturnal death syndrome"^^xsd:string) AnnotationAssertion( "sudden unexplained nocturnal death syndrome (SUNDS)"^^xsd:string) AnnotationAssertion( "Brugada Syndrome, Lidocaine-Induced"^^xsd:string) AnnotationAssertion( "SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Brugada syndrome, phenotype modifier"^^xsd:string) AnnotationAssertion( "DOID:0050451"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mevalonic aciduria) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria"^^xsd:string) "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3588"^^xsd:string) AnnotationAssertion( "MESH:D054078"^^xsd:string) AnnotationAssertion( "MIM:610377"^^xsd:string) AnnotationAssertion( "MONDO:0012481"^^xsd:string) AnnotationAssertion( "NCI:C84890"^^xsd:string) AnnotationAssertion( "ORDO:29"^^xsd:string) AnnotationAssertion( "HIDS"^^xsd:string) AnnotationAssertion( "MEVA"^^xsd:string) AnnotationAssertion( "mevalonate kinase deficiencies"^^xsd:string) AnnotationAssertion( "mevalonate kinase deficiency"^^xsd:string) AnnotationAssertion( "mevalonicaciduria"^^xsd:string) AnnotationAssertion( "mevalonicacidurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050452"^^xsd:string) AnnotationAssertion(rdfs:label "mevalonic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lissencephaly"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm"^^xsd:string) "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0011063"^^xsd:string) AnnotationAssertion( "GARD:12291"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.3"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.8"^^xsd:string) AnnotationAssertion( "MESH:D054082"^^xsd:string) AnnotationAssertion( "MIM:PS607432"^^xsd:string) AnnotationAssertion( "MONDO:0018838"^^xsd:string) AnnotationAssertion( "NCI:C103921"^^xsd:string) AnnotationAssertion( "ORDO:102009"^^xsd:string) AnnotationAssertion( "ORDO:48471"^^xsd:string) AnnotationAssertion( "Broad Gyri of Cerebrum"^^xsd:string) AnnotationAssertion( "ILS"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY SEQUENCE, ISOLATED"^^xsd:string) AnnotationAssertion( "Large Gyri of Cerebrum"^^xsd:string) AnnotationAssertion( "Lissencephalia"^^xsd:string) AnnotationAssertion( "Lissencephalies"^^xsd:string) AnnotationAssertion( "Pachygyria"^^xsd:string) AnnotationAssertion( "Pachygyrias"^^xsd:string) AnnotationAssertion( "agyria"^^xsd:string) AnnotationAssertion( "agyrias"^^xsd:string) AnnotationAssertion( "macrogyria"^^xsd:string) AnnotationAssertion( "macrogyrias"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA"^^xsd:string) AnnotationAssertion( "SBH"^^xsd:string) AnnotationAssertion( "SCLH"^^xsd:string) AnnotationAssertion( "lissencephaly, dominant"^^xsd:string) AnnotationAssertion( "lissencephaly, recessive"^^xsd:string) AnnotationAssertion( "posterior predominant lissencephaly"^^xsd:string) AnnotationAssertion( "subcortical band heterotopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050453"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periventricular nodular heterotopia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/periventricular-heterotopia"^^xsd:string) "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300049"^^xsd:string) AnnotationAssertion( "MESH:D054091"^^xsd:string) AnnotationAssertion( "MIM:PS300049"^^xsd:string) AnnotationAssertion( "NCI:C202072"^^xsd:string) AnnotationAssertion( "ORDO:98892"^^xsd:string) AnnotationAssertion( "BPNH"^^xsd:string) AnnotationAssertion( "Familial Nodular Heterotopia"^^xsd:string) AnnotationAssertion( "Heterotopia, Periventricular, X-Linked Dominant"^^xsd:string) AnnotationAssertion( "NHBP"^^xsd:string) AnnotationAssertion( "PVNH1"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopia"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopias"^^xsd:string) AnnotationAssertion( "Periventricular Nodular Heterotopia 1"^^xsd:string) AnnotationAssertion( "Periventricular Nodular Heterotopias"^^xsd:string) AnnotationAssertion( "X-linked periventricular heterotopia"^^xsd:string) AnnotationAssertion( "X-linked periventricular heterotopias"^^xsd:string) AnnotationAssertion( "bilateral periventricular nodular heterotopia"^^xsd:string) AnnotationAssertion( "familial nodular heterotopias"^^xsd:string) AnnotationAssertion( "HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050454"^^xsd:string) AnnotationAssertion(rdfs:label "periventricular nodular heterotopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Buruli ulcer disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Buruli_ulcer"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs199/en/"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610446"^^xsd:string) AnnotationAssertion( "SLC11A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:1001281"^^xsd:string) AnnotationAssertion( "GARD:9520"^^xsd:string) AnnotationAssertion( "ICD10CM:A31.1"^^xsd:string) AnnotationAssertion( "MESH:D054312"^^xsd:string) AnnotationAssertion( "MONDO:0000327"^^xsd:string) AnnotationAssertion( "NCI:C84604"^^xsd:string) AnnotationAssertion( "BURULI ULCER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Bairnsdale ulcer"^^xsd:string) AnnotationAssertion( "Buruli Ulcer Diseases"^^xsd:string) AnnotationAssertion( "Buruli ulcer"^^xsd:string) AnnotationAssertion( "Daintree ulcer"^^xsd:string) AnnotationAssertion( "Mossman ulcer"^^xsd:string) AnnotationAssertion( "Mycobacterium ulcerans Infection"^^xsd:string) AnnotationAssertion( "Mycobacterium ulcerans Infections"^^xsd:string) AnnotationAssertion( "Searl ulcer"^^xsd:string) AnnotationAssertion( "Searle's ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Mycobacterium ulcerans, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050456"^^xsd:string) AnnotationAssertion(rdfs:label "Buruli ulcer disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sertoli cell-only syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome"^^xsd:string) "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001422"^^xsd:string) AnnotationAssertion( "GARD:8406"^^xsd:string) AnnotationAssertion( "MESH:D054331"^^xsd:string) AnnotationAssertion( "NCI:C168988"^^xsd:string) AnnotationAssertion( "Del Castillo syndrome"^^xsd:string) AnnotationAssertion( "germinal cell aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050457"^^xsd:string) AnnotationAssertion(rdfs:label "Sertoli cell-only syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile myelomonocytic leukemia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/"^^xsd:string) "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607785"^^xsd:string) AnnotationAssertion( "CBL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:1000309"^^xsd:string) AnnotationAssertion( "GARD:9884"^^xsd:string) AnnotationAssertion( "ICD10CM:C93.3"^^xsd:string) AnnotationAssertion( "ICDO:9946/3"^^xsd:string) AnnotationAssertion( "MESH:D054429"^^xsd:string) AnnotationAssertion( "NCI:C9233"^^xsd:string) AnnotationAssertion( "ORDO:86834"^^xsd:string) AnnotationAssertion( "JMML"^^xsd:string) AnnotationAssertion( "juvenile chronic myelogenous leukemia"^^xsd:string) AnnotationAssertion( "juvenile myelomonocytic leukemias"^^xsd:string) AnnotationAssertion( "CMML"^^xsd:string) AnnotationAssertion( "juvenile myelomonocytic leukemia, chronic myelomonocytic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050458"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myelomonocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatemia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis"^^xsd:string) "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D054559"^^xsd:string) AnnotationAssertion( "NCI:C113750"^^xsd:string) AnnotationAssertion( "GALNT3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hyperphosphatemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050459"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatemia"^^xsd:string) SubClassOf( ) # Class: (Wolf-Hirschhorn syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome"^^xsd:string) "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:194190"^^xsd:string) AnnotationAssertion( "GARD:7896"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.3"^^xsd:string) AnnotationAssertion( "MESH:D054877"^^xsd:string) AnnotationAssertion( "NCI:C35528"^^xsd:string) AnnotationAssertion( "ORDO:280"^^xsd:string) AnnotationAssertion( "4p deletion syndrome"^^xsd:string) AnnotationAssertion( "4p- Syndrome"^^xsd:string) AnnotationAssertion( "CHROMOSOME 4p16.3 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Chromosome 4p Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 4p Monosomy"^^xsd:string) AnnotationAssertion( "Chromosome 4p Syndrome"^^xsd:string) AnnotationAssertion( "Del(4p) Syndrome"^^xsd:string) AnnotationAssertion( "Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation"^^xsd:string) AnnotationAssertion( "PRDS"^^xsd:string) AnnotationAssertion( "Partial Monosomy 4p"^^xsd:string) AnnotationAssertion( "Pitt Rogers Danks Syndrome"^^xsd:string) AnnotationAssertion( "Pitt Syndrome"^^xsd:string) AnnotationAssertion( "Pitt Syndromes"^^xsd:string) AnnotationAssertion( "WHS"^^xsd:string) AnnotationAssertion( "Wolf Hirchhorn syndrome"^^xsd:string) AnnotationAssertion( "Wolf syndrome"^^xsd:string) AnnotationAssertion( "chromosome 4p syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050460"^^xsd:string) AnnotationAssertion(rdfs:label "Wolf-Hirschhorn syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aspartylglucosaminuria) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria"^^xsd:string) "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538402"^^xsd:string) AnnotationAssertion( "MIM:208400"^^xsd:string) AnnotationAssertion( "GARD:5854"^^xsd:string) AnnotationAssertion( "MESH:D054880"^^xsd:string) AnnotationAssertion( "NCI:C61273"^^xsd:string) AnnotationAssertion( "AGA deficiencies"^^xsd:string) AnnotationAssertion( "AGA deficiency"^^xsd:string) AnnotationAssertion( "AGU"^^xsd:string) AnnotationAssertion( "aspartylglucosamidase (AGA) deficiency"^^xsd:string) AnnotationAssertion( "aspartylglucosamidase deficiencies"^^xsd:string) AnnotationAssertion( "aspartylglucosamidase deficiency"^^xsd:string) AnnotationAssertion( "aspartylglucosaminidase deficiency"^^xsd:string) AnnotationAssertion( "aspartylglucosaminuria, Finnish type"^^xsd:string) AnnotationAssertion( "aspartylglucosaminurias"^^xsd:string) AnnotationAssertion( "aspartylglycosaminuria"^^xsd:string) AnnotationAssertion( "aspartylglycosaminuria, Finnish type"^^xsd:string) AnnotationAssertion( "aspartylglycosaminurias"^^xsd:string) AnnotationAssertion( "glycoasparaginase"^^xsd:string) AnnotationAssertion( "glycoasparaginases"^^xsd:string) AnnotationAssertion( "glycosylasparaginase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050461"^^xsd:string) AnnotationAssertion(rdfs:label "aspartylglucosaminuria"^^xsd:string) SubClassOf( ) # Class: (Antley-Bixler syndrome with disordered steroidogenesis) AnnotationAssertion(Annotation( "PMID:35070845"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Antley-Bixler_syndrome"^^xsd:string) "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003979"^^xsd:string) AnnotationAssertion( "MIM:201750"^^xsd:string) AnnotationAssertion( "NCI:C174439"^^xsd:string) AnnotationAssertion( "NCI:C178415"^^xsd:string) AnnotationAssertion( "ABS1"^^xsd:string) AnnotationAssertion( "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis"^^xsd:string) AnnotationAssertion( "Antley-Bixler syndrome like phenotype with disordered steroidogenesis"^^xsd:string) AnnotationAssertion( "Antley-Bixler syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase"^^xsd:string) AnnotationAssertion( "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency"^^xsd:string) AnnotationAssertion( "Multisynostotic Osteodysgenesis"^^xsd:string) AnnotationAssertion( "POR deficiency"^^xsd:string) AnnotationAssertion( "multisynostotic osteodysgenesis with fractures"^^xsd:string) AnnotationAssertion( "trapezoidocephaly synostosis syndrome"^^xsd:string) AnnotationAssertion( "trapezoidocephaly-synostosis syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050462"^^xsd:string) AnnotationAssertion(rdfs:label "Antley-Bixler syndrome with disordered steroidogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (campomelic dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Campomelic_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/campomelic-dysplasia"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/campomelic-dysplasia-1"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO)"^^xsd:string) AnnotationAssertion( "MIM:114290"^^xsd:string) AnnotationAssertion( "CMPD1/SRA1"^^xsd:string) AnnotationAssertion( "SOX9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0004140"^^xsd:string) AnnotationAssertion( "GARD:10027"^^xsd:string) AnnotationAssertion( "MESH:D055036"^^xsd:string) AnnotationAssertion( "MONDO:0007251"^^xsd:string) AnnotationAssertion( "NCI:C120205"^^xsd:string) AnnotationAssertion( "NCI:C84609"^^xsd:string) AnnotationAssertion( "ORDO:140"^^xsd:string) AnnotationAssertion( "CMD1"^^xsd:string) AnnotationAssertion( "CMPD"^^xsd:string) AnnotationAssertion( "CMPD1"^^xsd:string) AnnotationAssertion( "campomelic dwarfism"^^xsd:string) AnnotationAssertion( "campomelic dwarfisms"^^xsd:string) AnnotationAssertion( "campomelic dysplasias"^^xsd:string) AnnotationAssertion( "campomelic syndrome"^^xsd:string) AnnotationAssertion( "campomelic syndromes"^^xsd:string) AnnotationAssertion( "camptomelic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acampomelic campomelic dysplasia"^^xsd:string) AnnotationAssertion( "acampomelic campomelic dysplasia with autosomal sex reversal"^^xsd:string) AnnotationAssertion( "acampomelic campomelic dysplasias"^^xsd:string) AnnotationAssertion( "campomelic dysplasia with autosomal sex reversal"^^xsd:string) AnnotationAssertion( "DOID:0050463"^^xsd:string) AnnotationAssertion(rdfs:label "campomelic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Farber lipogranulomatosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Farber_disease"^^xsd:string) "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228000"^^xsd:string) AnnotationAssertion( "ASAH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6426"^^xsd:string) AnnotationAssertion( "MESH:D055577"^^xsd:string) AnnotationAssertion( "NCI:C84710"^^xsd:string) AnnotationAssertion( "ORDO:333"^^xsd:string) AnnotationAssertion( "AC deficiency"^^xsd:string) AnnotationAssertion( "Ceramidase Deficiency"^^xsd:string) AnnotationAssertion( "FRBRL"^^xsd:string) AnnotationAssertion( "Farber Disease"^^xsd:string) AnnotationAssertion( "Farber's Disease"^^xsd:string) AnnotationAssertion( "Farber's diseases"^^xsd:string) AnnotationAssertion( "Farber's lipogranulomatosis"^^xsd:string) AnnotationAssertion( "Farbers Disease"^^xsd:string) AnnotationAssertion( "N-laurylsphingosine deacylase deficiencies"^^xsd:string) AnnotationAssertion( "N-laurylsphingosine deacylase deficiency"^^xsd:string) AnnotationAssertion( "acid ceramidase deficiencies"^^xsd:string) AnnotationAssertion( "acid ceramidase deficiency"^^xsd:string) AnnotationAssertion( "ceramidase deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050464"^^xsd:string) AnnotationAssertion(rdfs:label "Farber lipogranulomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Muir-Torre syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome"^^xsd:string) "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6821"^^xsd:string) AnnotationAssertion( "MESH:D055653"^^xsd:string) AnnotationAssertion( "MIM:158320"^^xsd:string) AnnotationAssertion( "MONDO:0008018"^^xsd:string) AnnotationAssertion( "NCI:C84905"^^xsd:string) AnnotationAssertion( "ORDO:587"^^xsd:string) AnnotationAssertion( "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS"^^xsd:string) AnnotationAssertion( "MRTES"^^xsd:string) AnnotationAssertion( "Muir-Torré syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050465"^^xsd:string) AnnotationAssertion(rdfs:label "Muir-Torre syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Loeys-Dietz syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome"^^xsd:string) "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538192"^^xsd:string) AnnotationAssertion( "GARD:10788"^^xsd:string) AnnotationAssertion( "MESH:D055947"^^xsd:string) AnnotationAssertion( "MIM:PS609192"^^xsd:string) AnnotationAssertion( "NCI:C75006"^^xsd:string) AnnotationAssertion( "ORDO:60030"^^xsd:string) AnnotationAssertion( "Loeys Dietz aortic aneurysm syndrome"^^xsd:string) AnnotationAssertion( "Loeys Dietz syndrome, type 1A"^^xsd:string) AnnotationAssertion( "Marfanoid disorder with craniosynostosis, type 2"^^xsd:string) AnnotationAssertion( "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050466"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (erythrokeratodermia variabilis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis"^^xsd:string) "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D056266"^^xsd:string) AnnotationAssertion( "MIM:PS133200"^^xsd:string) AnnotationAssertion( "NCI:C84696"^^xsd:string) AnnotationAssertion( "ORDO:317"^^xsd:string) AnnotationAssertion( "EKV"^^xsd:string) AnnotationAssertion( "EKVP"^^xsd:string) AnnotationAssertion( "Mendes De Costa syndrome"^^xsd:string) AnnotationAssertion( "PSEK"^^xsd:string) AnnotationAssertion( "erythro et keratodermia variabilis"^^xsd:string) AnnotationAssertion( "erythrokeratodermia figurata variabilis"^^xsd:string) AnnotationAssertion( "erythrokeratodermia variabilis et progressiva"^^xsd:string) AnnotationAssertion( "progressive symmetric erythrokeratodermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050467"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (yellow nail syndrome) AnnotationAssertion(Annotation( "PMID:28241848"^^xsd:string) "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001452"^^xsd:string) AnnotationAssertion( "GARD:184"^^xsd:string) AnnotationAssertion( "ICD10CM:L60.5"^^xsd:string) AnnotationAssertion( "MESH:D056684"^^xsd:string) AnnotationAssertion( "MIM:153300"^^xsd:string) AnnotationAssertion( "MONDO:0007921"^^xsd:string) AnnotationAssertion( "NCI:C85238"^^xsd:string) AnnotationAssertion( "YNS"^^xsd:string) AnnotationAssertion( "lymphedema and yellow nails"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050468"^^xsd:string) AnnotationAssertion(rdfs:label "yellow nail syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Costello syndrome) AnnotationAssertion(Annotation( "PMID:17250658"^^xsd:string) Annotation( "PMID:907573"^^xsd:string) "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1550"^^xsd:string) AnnotationAssertion( "MESH:D056685"^^xsd:string) AnnotationAssertion( "MIM:218040"^^xsd:string) AnnotationAssertion( "MONDO:0009026"^^xsd:string) AnnotationAssertion( "NCI:C84652"^^xsd:string) AnnotationAssertion( "CSTLO"^^xsd:string) AnnotationAssertion( "FCS syndrome"^^xsd:string) AnnotationAssertion( "FCS syndromes"^^xsd:string) AnnotationAssertion( "faciocutaneoskeletal syndrome"^^xsd:string) AnnotationAssertion( "faciocutaneoskeletal syndromes"^^xsd:string) AnnotationAssertion( "CMEMS"^^xsd:string) AnnotationAssertion( "congenital myopathy with excess of muscle spindles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050469"^^xsd:string) AnnotationAssertion(rdfs:label "Costello syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Donohue syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Donohue_syndrome"^^xsd:string) "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562709"^^xsd:string) AnnotationAssertion( "MESH:D056731"^^xsd:string) AnnotationAssertion( "MIM:246200"^^xsd:string) AnnotationAssertion( "MONDO:0009517"^^xsd:string) AnnotationAssertion( "NCI:C131000"^^xsd:string) AnnotationAssertion( "NCI:C84676"^^xsd:string) AnnotationAssertion( "ORDO:508"^^xsd:string) AnnotationAssertion( "leprechaunism"^^xsd:string) AnnotationAssertion( "leprechaunism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "defect in insulin receptor"^^xsd:string) AnnotationAssertion( "DOID:0050470"^^xsd:string) AnnotationAssertion(rdfs:label "Donohue syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carney complex) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carney_complex"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/carney-complex"^^xsd:string) "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160980"^^xsd:string) AnnotationAssertion( "MIM:605244"^^xsd:string) AnnotationAssertion( "GARD:1119"^^xsd:string) AnnotationAssertion( "MESH:D056733"^^xsd:string) AnnotationAssertion( "NCI:C4705"^^xsd:string) AnnotationAssertion( "ORDO:1359"^^xsd:string) AnnotationAssertion( "CAR"^^xsd:string) AnnotationAssertion( "CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2"^^xsd:string) AnnotationAssertion( "CNC1"^^xsd:string) AnnotationAssertion( "CNC2"^^xsd:string) AnnotationAssertion( "Carney Myxoma Endocrine Complex"^^xsd:string) AnnotationAssertion( "Carney Myxoma Endocrine Complex, Type II"^^xsd:string) AnnotationAssertion( "Carney complex, type 1"^^xsd:string) AnnotationAssertion( "Carney complex, type 2"^^xsd:string) AnnotationAssertion( "Carney complex, type I"^^xsd:string) AnnotationAssertion( "Carney complex, type II"^^xsd:string) AnnotationAssertion( "Carney syndrome"^^xsd:string) AnnotationAssertion( "LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome"^^xsd:string) AnnotationAssertion( "LAMB syndrome"^^xsd:string) AnnotationAssertion( "NAME syndrome"^^xsd:string) AnnotationAssertion( "myxoma, spotty pigmentation, and endocrine overactivity"^^xsd:string) AnnotationAssertion( "nevi, atrial myxoma, skin myxoma, ephelides syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050471"^^xsd:string) AnnotationAssertion(rdfs:label "Carney complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (monilethrix) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/monilethrix"^^xsd:string) "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158000"^^xsd:string) AnnotationAssertion( "GARD:93"^^xsd:string) AnnotationAssertion( "ICD10CM:Q84.1"^^xsd:string) AnnotationAssertion( "MESH:D056734"^^xsd:string) AnnotationAssertion( "NCI:C84894"^^xsd:string) AnnotationAssertion( "MNLIX"^^xsd:string) AnnotationAssertion( "monilethrices"^^xsd:string) AnnotationAssertion( "nodose hair"^^xsd:string) AnnotationAssertion( "KRT83-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KRT86-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050472"^^xsd:string) AnnotationAssertion(rdfs:label "monilethrix"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alstrom syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alstrom_syndrome"^^xsd:string) "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "ALMS1-related condition"^^xsd:string) AnnotationAssertion( "MESH:D056769"^^xsd:string) AnnotationAssertion( "MIM:203800"^^xsd:string) AnnotationAssertion( "MONDO:0008763"^^xsd:string) AnnotationAssertion( "NCI:C84549"^^xsd:string) AnnotationAssertion( "ALMS"^^xsd:string) AnnotationAssertion( "ALSS"^^xsd:string) AnnotationAssertion( "Alstrom Hallgren syndrome"^^xsd:string) AnnotationAssertion( "Alstrom's syndrome"^^xsd:string) AnnotationAssertion( "Alstroms syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050473"^^xsd:string) AnnotationAssertion(rdfs:label "Alstrom syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Netherton syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/netherton-syndrome"^^xsd:string) "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256500"^^xsd:string) AnnotationAssertion( "GARD:7182"^^xsd:string) AnnotationAssertion( "MESH:D056770"^^xsd:string) AnnotationAssertion( "NCI:C84922"^^xsd:string) AnnotationAssertion( "ORDO:634"^^xsd:string) AnnotationAssertion( "Comel-Netherton syndrome"^^xsd:string) AnnotationAssertion( "ICHTHYOSIS LINEARIS CIRCUMFLEXA"^^xsd:string) AnnotationAssertion( "NETH"^^xsd:string) AnnotationAssertion( "NS"^^xsd:string) AnnotationAssertion( "Netherton disease"^^xsd:string) AnnotationAssertion( "SPINK5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma with hypotrichosis and hyper-IgE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050474"^^xsd:string) AnnotationAssertion(rdfs:label "Netherton syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Weill-Marchesani syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome"^^xsd:string) "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4936"^^xsd:string) AnnotationAssertion( "MESH:D056846"^^xsd:string) AnnotationAssertion( "MIM:PS277600"^^xsd:string) AnnotationAssertion( "NCI:C85226"^^xsd:string) AnnotationAssertion( "ORDO:3449"^^xsd:string) AnnotationAssertion( "Marchesani Syndrome"^^xsd:string) AnnotationAssertion( "Marchesani-Weill syndromes"^^xsd:string) AnnotationAssertion( "congenital mesodermal dysmorphodystrophies"^^xsd:string) AnnotationAssertion( "congenital mesodermal dysmorphodystrophy"^^xsd:string) AnnotationAssertion( "congenital mesodermal dystrophy"^^xsd:string) AnnotationAssertion( "spherophakia brachymorphia syndrome"^^xsd:string) AnnotationAssertion( "spherophakia brachymorphia syndromes"^^xsd:string) AnnotationAssertion( "Weill Marchesani syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050475"^^xsd:string) AnnotationAssertion(rdfs:label "Weill-Marchesani syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Barth syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Barth_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/barth/barth.htm"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5890"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.71"^^xsd:string) AnnotationAssertion( "MESH:D056889"^^xsd:string) AnnotationAssertion( "MIM:302060"^^xsd:string) AnnotationAssertion( "MONDO:0010543"^^xsd:string) AnnotationAssertion( "NCI:C84585"^^xsd:string) AnnotationAssertion( "ORDO:111"^^xsd:string) AnnotationAssertion( "3 methylglutaconicaciduria type 2"^^xsd:string) AnnotationAssertion( "3-Methylglutaconicaciduria Type II"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type 2"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type II"^^xsd:string) AnnotationAssertion( "BTHS"^^xsd:string) AnnotationAssertion( "MGA type 2"^^xsd:string) AnnotationAssertion( "MGA type II"^^xsd:string) AnnotationAssertion( "MGA2"^^xsd:string) AnnotationAssertion( "MGCA2"^^xsd:string) AnnotationAssertion( "X-linked cardioskeletal myopathy and neutropenia"^^xsd:string) AnnotationAssertion( "cardioskeletal myopathy with neutropenia and abnormal mitochondria"^^xsd:string) AnnotationAssertion( "cardioskeletal myopathy-neutropenia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050476"^^xsd:string) AnnotationAssertion(rdfs:label "Barth syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Liddle syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Liddle%27s_syndrome"^^xsd:string) "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7381"^^xsd:string) AnnotationAssertion( "MESH:D056929"^^xsd:string) AnnotationAssertion( "MIM:PS177200"^^xsd:string) AnnotationAssertion( "NCI:C84827"^^xsd:string) AnnotationAssertion( "LIDLS"^^xsd:string) AnnotationAssertion( "Liddle's syndrome"^^xsd:string) AnnotationAssertion( "pseudoaldosteronism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050477"^^xsd:string) AnnotationAssertion(rdfs:label "Liddle syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidemic typhus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epidemic_typhus"^^xsd:string) "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014438"^^xsd:string) AnnotationAssertion( "epidemic louse-borne typhus fever due to Rickettsia prowazekii"^^xsd:string) AnnotationAssertion( "jail fever"^^xsd:string) AnnotationAssertion( "louse-borne epidemic typhus"^^xsd:string) AnnotationAssertion( "louse-borne rickettsiosis"^^xsd:string) AnnotationAssertion( "louse-borne typhus"^^xsd:string) AnnotationAssertion( "sylvatic typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050480"^^xsd:string) AnnotationAssertion(rdfs:label "epidemic typhus"^^xsd:string) SubClassOf( ) # Class: (endemic typhus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Murine_typhus"^^xsd:string) "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014437"^^xsd:string) AnnotationAssertion( "MONDO:0000330"^^xsd:string) AnnotationAssertion( "NCI:C84688"^^xsd:string) AnnotationAssertion( "ORDO:83315"^^xsd:string) AnnotationAssertion( "cat flea rickettsiosis"^^xsd:string) AnnotationAssertion( "endemic flea-borne typhus"^^xsd:string) AnnotationAssertion( "endemic typhus fever"^^xsd:string) AnnotationAssertion( "flea-borne rickettsiosis"^^xsd:string) AnnotationAssertion( "flea-borne typhus"^^xsd:string) AnnotationAssertion( "fleaborne typhus"^^xsd:string) AnnotationAssertion( "murine [endemic] typhus"^^xsd:string) AnnotationAssertion( "murine typhus"^^xsd:string) AnnotationAssertion( "rat-flea typhus"^^xsd:string) AnnotationAssertion( "rickettsia felis spotted fever"^^xsd:string) AnnotationAssertion( "shop typhus"^^xsd:string) AnnotationAssertion( "toulon typhus"^^xsd:string) AnnotationAssertion( "urban typhus"^^xsd:string) AnnotationAssertion( "urban typhus of Malaya"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050481"^^xsd:string) AnnotationAssertion(rdfs:label "endemic typhus"^^xsd:string) SubClassOf( ) # Class: (aneruptive fever) AnnotationAssertion(Annotation( "http://jcm.asm.org/cgi/reprint/42/2/816"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia helvetica spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050484"^^xsd:string) AnnotationAssertion(rdfs:label "aneruptive fever"^^xsd:string) SubClassOf( ) # Class: (sennetsu fever) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/sennetsu-fever/"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. (DO)"^^xsd:string) AnnotationAssertion( "GARD:120"^^xsd:string) AnnotationAssertion( "MESH:C537582"^^xsd:string) AnnotationAssertion( "Human Ehrlichial infection, Sennetsu type"^^xsd:string) AnnotationAssertion( "Sennetsu ehrlichiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050485"^^xsd:string) AnnotationAssertion(rdfs:label "sennetsu fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exanthem) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Exanthem"^^xsd:string) "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000697"^^xsd:string) AnnotationAssertion( "ICD10CM:R21"^^xsd:string) AnnotationAssertion( "ICD9CM:782.1"^^xsd:string) AnnotationAssertion( "MESH:D005076"^^xsd:string) AnnotationAssertion( "NCI:C111884"^^xsd:string) AnnotationAssertion( "NCI:C39594"^^xsd:string) AnnotationAssertion( "exanthema"^^xsd:string) AnnotationAssertion( "rash"^^xsd:string) AnnotationAssertion( "skin rash"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050486"^^xsd:string) AnnotationAssertion(rdfs:label "exanthem"^^xsd:string) SubClassOf( ) # Class: (bacterial exanthem) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Scarlet_fever#Rash"^^xsd:string) "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000671"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050487"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial exanthem"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (early congenital syphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string) "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050488"^^xsd:string) AnnotationAssertion(rdfs:label "early congenital syphilis"^^xsd:string) SubClassOf( ) # Class: (multinodular goiter) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multinodular_goitre"^^xsd:string) "A goiter characterized by a multinodular enlargement of the thyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS138800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050489"^^xsd:string) AnnotationAssertion(rdfs:label "multinodular goiter"^^xsd:string) SubClassOf( ) # Class: (parenchymatous neurosyphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002432"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050490"^^xsd:string) AnnotationAssertion(rdfs:label "parenchymatous neurosyphilis"^^xsd:string) SubClassOf( ) # Class: (meningovascular neurosyphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050491"^^xsd:string) AnnotationAssertion(rdfs:label "meningovascular neurosyphilis"^^xsd:string) SubClassOf( ) # Class: (exanthema subitum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Exanthema_subitum"^^xsd:string) "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001320"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.2"^^xsd:string) AnnotationAssertion( "ICD9CM:058.1"^^xsd:string) AnnotationAssertion( "MESH:D005077"^^xsd:string) AnnotationAssertion( "Roseola Infantum"^^xsd:string) AnnotationAssertion( "Sixth Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050495"^^xsd:string) AnnotationAssertion(rdfs:label "exanthema subitum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (variola major) AnnotationAssertion(Annotation( "http://www.who.int/csr/disease/smallpox/en/"^^xsd:string) "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:050.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050508"^^xsd:string) AnnotationAssertion(rdfs:label "variola major"^^xsd:string) SubClassOf( ) # Class: (spinal polio) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string) "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050513"^^xsd:string) AnnotationAssertion(rdfs:label "spinal polio"^^xsd:string) SubClassOf( ) # Class: (bulbospinal polio) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string) "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050514"^^xsd:string) AnnotationAssertion(rdfs:label "bulbospinal polio"^^xsd:string) SubClassOf( ) # Class: (paralytic poliomyelitis) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string) Annotation( "https://www.sciencedirect.com/topics/neuroscience/paralytic-polio"^^xsd:string) "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050515"^^xsd:string) AnnotationAssertion(rdfs:label "paralytic poliomyelitis"^^xsd:string) SubClassOf( ) # Class: (O'nyong'nyong fever) AnnotationAssertion(Annotation( "http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050516"^^xsd:string) AnnotationAssertion(rdfs:label "O'nyong'nyong fever"^^xsd:string) SubClassOf( ) # Class: (Barmah Forest virus disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Barmah_Forest_virus"^^xsd:string) Annotation( "https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004309"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050517"^^xsd:string) AnnotationAssertion(rdfs:label "Barmah Forest virus disease"^^xsd:string) SubClassOf( ) # Class: (Ross River fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ross_River_fever"^^xsd:string) Annotation( "https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ross-river-virus-disease"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "Ross River virus disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050518"^^xsd:string) AnnotationAssertion(rdfs:label "Ross River fever"^^xsd:string) SubClassOf( ) # Class: (Oropouche fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oropouche_fever"^^xsd:string) Annotation( "http://www.cdc.gov/EID/content/13/6/912.htm"^^xsd:string) "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050521"^^xsd:string) AnnotationAssertion(rdfs:label "Oropouche fever"^^xsd:string) SubClassOf( ) # Class: (Balkan hemorrhagic fever) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome"^^xsd:string) "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050522"^^xsd:string) AnnotationAssertion(rdfs:label "Balkan hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (adult T-cell leukemia/lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK558968/"^^xsd:string) "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13103"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.5"^^xsd:string) AnnotationAssertion( "ICDO:9827/3"^^xsd:string) AnnotationAssertion( "MESH:D015459"^^xsd:string) AnnotationAssertion( "MONDO:0019471"^^xsd:string) AnnotationAssertion( "ATLL"^^xsd:string) AnnotationAssertion( "Adult T-cell leukemia/lymphoma (HTLV-1 positive)"^^xsd:string) AnnotationAssertion( "HTLV I Associated T Cell Leukemia Lymphoma"^^xsd:string) AnnotationAssertion( "HTLV-I-Associated T-Cell Leukemia-Lymphomas"^^xsd:string) AnnotationAssertion( "HTLV-associated leukemia/lymphoma"^^xsd:string) AnnotationAssertion( "acute T-cell leukemia lymphoma, HTLV I associated"^^xsd:string) AnnotationAssertion( "adult T-cell leukemia"^^xsd:string) AnnotationAssertion( "adult T-cell leukemia-lymphomas"^^xsd:string) AnnotationAssertion( "adult T-cell leukemias"^^xsd:string) AnnotationAssertion( "human T lymphotropic virus associated leukemia lymphoma"^^xsd:string) AnnotationAssertion( "human T-cell leukemia lymphoma"^^xsd:string) AnnotationAssertion( "human T-cell leukemia-lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050523"^^xsd:string) AnnotationAssertion(rdfs:label "adult T-cell leukemia/lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (maturity-onset diabetes of the young) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young"^^xsd:string) "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606391"^^xsd:string) AnnotationAssertion( "GARD:3697"^^xsd:string) AnnotationAssertion( "ICD10CM:E11.8"^^xsd:string) AnnotationAssertion( "MESH:C562772"^^xsd:string) AnnotationAssertion( "NCI:C114769"^^xsd:string) AnnotationAssertion( "ORDO:552"^^xsd:string) AnnotationAssertion( "MODY"^^xsd:string) AnnotationAssertion( "Mason-type diabetes"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes mellitus in young"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050524"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gamstorp-Wohlfart syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia"^^xsd:string) "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137200"^^xsd:string) AnnotationAssertion( "GARD:12353"^^xsd:string) AnnotationAssertion( "MESH:D020386"^^xsd:string) AnnotationAssertion( "NCI:C202012"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA"^^xsd:string) AnnotationAssertion( "Continuous Myokymia"^^xsd:string) AnnotationAssertion( "Isaac Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs Mertens Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs Pseudomyotonia Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs-Mertens Syndromes"^^xsd:string) AnnotationAssertion( "Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis"^^xsd:string) AnnotationAssertion( "NMAN"^^xsd:string) AnnotationAssertion( "Neuromyotonia"^^xsd:string) AnnotationAssertion( "Pseudomyotonia"^^xsd:string) AnnotationAssertion( "acquired neuromyotonia"^^xsd:string) AnnotationAssertion( "autosomal recessive neuromyotonia and axonal neuropathy"^^xsd:string) AnnotationAssertion( "continuous muscle activity syndrome"^^xsd:string) AnnotationAssertion( "continuous myokymias"^^xsd:string) AnnotationAssertion( "myokymia, myotonia and muscle wasting"^^xsd:string) AnnotationAssertion( "pseudomyotonia syndrome of Isaacs"^^xsd:string) AnnotationAssertion( "quantal squander"^^xsd:string) AnnotationAssertion( "syndrome of continuous muscle activity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050526"^^xsd:string) AnnotationAssertion(rdfs:label "Gamstorp-Wohlfart syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonphotosensitive trichothiodystrophy 4) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string) "A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536556"^^xsd:string) AnnotationAssertion( "MIM:234050"^^xsd:string) AnnotationAssertion( "MONDO:0021013"^^xsd:string) AnnotationAssertion( "NCI:C146899"^^xsd:string) AnnotationAssertion( "HAIR-BRAIN SYNDROME"^^xsd:string) AnnotationAssertion( "MPLKIP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Pollitt syndrome"^^xsd:string) AnnotationAssertion( "TTD4"^^xsd:string) AnnotationAssertion( "TTDN1"^^xsd:string) AnnotationAssertion( "nonphotosensitive trichothiodystrophy 1"^^xsd:string) AnnotationAssertion( "trichorrhexis nodosa syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy-neurocutaneous syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050528"^^xsd:string) AnnotationAssertion(rdfs:label "nonphotosensitive trichothiodystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult spinal muscular atrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string) "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538417"^^xsd:string) AnnotationAssertion( "MESH:C563948"^^xsd:string) AnnotationAssertion( "MIM:271150"^^xsd:string) AnnotationAssertion( "ORDO:83420"^^xsd:string) AnnotationAssertion( "SMA4"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy 4"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, adult form"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, proximal, adult, autosomal recessive"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050529"^^xsd:string) AnnotationAssertion(rdfs:label "adult spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intermediate spinal muscular atrophy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2"^^xsd:string) "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:253550"^^xsd:string) AnnotationAssertion( "MONDO:0009673"^^xsd:string) AnnotationAssertion( "NCI:C156310"^^xsd:string) AnnotationAssertion( "ORDO:83418"^^xsd:string) AnnotationAssertion( "SMA II"^^xsd:string) AnnotationAssertion( "SMA2"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy 2"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, infantile chronic form"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, intermediate type"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, type 2"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050530"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness) AnnotationAssertion(Annotation( "ORDO:215"^^xsd:string) Annotation( "http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1245/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/"^^xsd:string) Annotation( "http://www.omim.org/entry/610444"^^xsd:string) "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536122"^^xsd:string) AnnotationAssertion( "MIM:PS310500"^^xsd:string) AnnotationAssertion( "ORDO:215"^^xsd:string) AnnotationAssertion( "CRSD"^^xsd:string) AnnotationAssertion( "congenital essential nyctalopia"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1"^^xsd:string) AnnotationAssertion( "hemeralopia-myopia"^^xsd:string) AnnotationAssertion( "CSNB, complete, autosomal recessive"^^xsd:string) AnnotationAssertion( "CSNB, incomplete, X-linked"^^xsd:string) AnnotationAssertion( "CSNB, incomplete, autosomal recessive"^^xsd:string) AnnotationAssertion( "NBM1 nyctalopia"^^xsd:string) AnnotationAssertion( "X-linked CSNB"^^xsd:string) AnnotationAssertion( "X-linked congenital stationary night blindness"^^xsd:string) AnnotationAssertion( "XLCSNB"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, complete, autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, dominant"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, recessive"^^xsd:string) AnnotationAssertion( "myopia-night blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050534"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (exudative vitreoretinopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy"^^xsd:string) "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1613"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.00"^^xsd:string) AnnotationAssertion( "ICD9CM:362.10"^^xsd:string) AnnotationAssertion( "MESH:D000080345"^^xsd:string) AnnotationAssertion( "MIM:PS133780"^^xsd:string) AnnotationAssertion( "ORDO:891"^^xsd:string) AnnotationAssertion( "FEVR"^^xsd:string) AnnotationAssertion( "familial exudative vitreoretinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050535"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (posterior polar cataract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/"^^xsd:string) "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050537"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polar cataract"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002093"^^xsd:string) AnnotationAssertion( "RDO:9002804"^^xsd:string) AnnotationAssertion( "GARD:12433"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth disease, type I"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth, type 1"^^xsd:string) AnnotationAssertion( "HMN distal type I"^^xsd:string) AnnotationAssertion( "HMSN I"^^xsd:string) AnnotationAssertion( "HMSN type I"^^xsd:string) AnnotationAssertion( "HMSN1"^^xsd:string) AnnotationAssertion( "Hereditary Type I Motor and Sensory Neuropathy"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050538"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2) AnnotationAssertion(Annotation( "PMID:25098539"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12431"^^xsd:string) AnnotationAssertion( "ICD9CM:356.0"^^xsd:string) AnnotationAssertion( "ORDO:64746"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type II"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, type 2"^^xsd:string) AnnotationAssertion( "HMSN II"^^xsd:string) AnnotationAssertion( "HMSN type II"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy Guadalajara neuronal type"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy Okinawa type"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type 2"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050539"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 3) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease"^^xsd:string) "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "PRX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9204"^^xsd:string) AnnotationAssertion( "MIM:145900"^^xsd:string) AnnotationAssertion( "MONDO:0007790"^^xsd:string) AnnotationAssertion( "NCI:C133087"^^xsd:string) AnnotationAssertion( "ORDO:64748"^^xsd:string) AnnotationAssertion( "CMT3"^^xsd:string) AnnotationAssertion( "DSN"^^xsd:string) AnnotationAssertion( "DSS"^^xsd:string) AnnotationAssertion( "Dejerine Sottas disease"^^xsd:string) AnnotationAssertion( "Dejerine Sottas neuropathy"^^xsd:string) AnnotationAssertion( "Dejerine Sottas syndrome"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas hypertrophic neuropathy"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas neuropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "HMSN type III"^^xsd:string) AnnotationAssertion( "HMSN3"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 3"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type III"^^xsd:string) AnnotationAssertion( "hypertrophic neuropathy of Dejerine Sottas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050540"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12440"^^xsd:string) AnnotationAssertion( "ORDO:64749"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type IV"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, type 4"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050541"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type X) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:64747"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy X"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050542"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type X"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease intermediate type) AnnotationAssertion(Annotation( "ORDO:93114"^^xsd:string) Annotation( "PMID:16775371"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease dominant intermediate"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease recessive intermediate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, intermediate"^^xsd:string) AnnotationAssertion( "DOID:0050543"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease intermediate type"^^xsd:string) SubClassOf( ) # Class: (hypermethioninemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypermethioninemia"^^xsd:string) "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250850"^^xsd:string) AnnotationAssertion( "EFO:0009069"^^xsd:string) AnnotationAssertion( "MESH:C564683"^^xsd:string) AnnotationAssertion( "NCI:C123435"^^xsd:string) AnnotationAssertion( "Deficiency of Methionine Adenosyltransferase"^^xsd:string) AnnotationAssertion( "Hepatic Methionine Adenosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Hypermethioninemia, Isolated Persistent"^^xsd:string) AnnotationAssertion( "MAT DEFICIENCY"^^xsd:string) AnnotationAssertion( "MAT I/III DEFICIENCY"^^xsd:string) AnnotationAssertion( "Methioninemia"^^xsd:string) AnnotationAssertion( "S-Adenosylhomocysteine Hydrolase Deficiency"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase I/III deficiency"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase deficiency"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050544"^^xsd:string) AnnotationAssertion(rdfs:label "hypermethioninemia"^^xsd:string) SubClassOf( ) # Class: (visceral heterotaxy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Situs_ambiguus"^^xsd:string) "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO)"^^xsd:string) AnnotationAssertion( "GDF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GDF1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "EFO:0009081"^^xsd:string) AnnotationAssertion( "GARD:10875"^^xsd:string) AnnotationAssertion( "MESH:D059446"^^xsd:string) AnnotationAssertion( "MIM:PS306955"^^xsd:string) AnnotationAssertion( "ORDO:450"^^xsd:string) AnnotationAssertion( "Left Atrial Isomerism"^^xsd:string) AnnotationAssertion( "Left Atrial Isomerism with Polysplenia"^^xsd:string) AnnotationAssertion( "Polysplenia Syndrome"^^xsd:string) AnnotationAssertion( "Polysplenia Syndromes"^^xsd:string) AnnotationAssertion( "RAI"^^xsd:string) AnnotationAssertion( "asplenia syndrome"^^xsd:string) AnnotationAssertion( "asplenia syndromes"^^xsd:string) AnnotationAssertion( "asplenia with cardiovascular anomalies"^^xsd:string) AnnotationAssertion( "bilateral right-sidedness sequence"^^xsd:string) AnnotationAssertion( "heterotaxia"^^xsd:string) AnnotationAssertion( "heterotaxia syndrome"^^xsd:string) AnnotationAssertion( "heterotaxy syndrome"^^xsd:string) AnnotationAssertion( "heterotaxy syndromes"^^xsd:string) AnnotationAssertion( "left atrial isomerisms"^^xsd:string) AnnotationAssertion( "situs ambiguus"^^xsd:string) AnnotationAssertion( "situs ambiguus viscerum"^^xsd:string) AnnotationAssertion( "situs ambiguus viscerums"^^xsd:string) AnnotationAssertion( "situs ambiguus with asplenia"^^xsd:string) AnnotationAssertion( "situs ambiguus with polysplenia"^^xsd:string) AnnotationAssertion( "visceral heterotaxies"^^xsd:string) AnnotationAssertion( "HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "POLYASPLENIA"^^xsd:string) AnnotationAssertion( "VAH, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050545"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital adrenal insufficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adrenal_insufficiency"^^xsd:string) "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566131"^^xsd:string) AnnotationAssertion( "MIM:613743"^^xsd:string) AnnotationAssertion( "MESH:C566130"^^xsd:string) AnnotationAssertion( "CYP11A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "P450scc deficiency"^^xsd:string) AnnotationAssertion( "congenital adrenal insufficiency, with 46,XY sex reversal"^^xsd:string) AnnotationAssertion( "congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050546"^^xsd:string) AnnotationAssertion(rdfs:label "congenital adrenal insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial medullary thyroid carcinoma) AnnotationAssertion(Annotation( "MIM:155240"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001957"^^xsd:string) AnnotationAssertion( "MESH:C536911"^^xsd:string) AnnotationAssertion( "MIM:155240"^^xsd:string) AnnotationAssertion( "MONDO:0007958"^^xsd:string) AnnotationAssertion( "FMTC"^^xsd:string) AnnotationAssertion( "MEN2A and FMTC"^^xsd:string) AnnotationAssertion( "MTC"^^xsd:string) AnnotationAssertion( "MTC1"^^xsd:string) AnnotationAssertion( "familial medullary thyroid cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050547"^^xsd:string) AnnotationAssertion(rdfs:label "familial medullary thyroid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy) AnnotationAssertion(Annotation( "MIM:616488"^^xsd:string) "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001514"^^xsd:string) AnnotationAssertion( "MESH:D009477"^^xsd:string) AnnotationAssertion( "MIM:PS162400"^^xsd:string) AnnotationAssertion( "HSAN"^^xsd:string) AnnotationAssertion( "HSAN (hereditary sensory autonomic neuropathy)"^^xsd:string) AnnotationAssertion( "congenital sensory neuropathies"^^xsd:string) AnnotationAssertion( "congenital sensory neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathies"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathies"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, recessive form"^^xsd:string) AnnotationAssertion( "AMS"^^xsd:string) AnnotationAssertion( "acral mutilation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050548"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (proteasome-associated autoinflammatory syndrome 1) AnnotationAssertion(Annotation( "PMID:21129723"^^xsd:string) Annotation( "PMID:21852578"^^xsd:string) Annotation( "PMID:21881205"^^xsd:string) Annotation( "https://www.nomidalliance.org/candle.php"^^xsd:string) "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "PSMB8-related condition"^^xsd:string) AnnotationAssertion( "GARD:10988"^^xsd:string) AnnotationAssertion( "GARD:3916"^^xsd:string) AnnotationAssertion( "GARD:3917"^^xsd:string) AnnotationAssertion( "MIM:256040"^^xsd:string) AnnotationAssertion( "MONDO:0054698"^^xsd:string) AnnotationAssertion( "NCI:C176619"^^xsd:string) AnnotationAssertion( "ORDO:324999"^^xsd:string) AnnotationAssertion( "ALDD"^^xsd:string) AnnotationAssertion( "CANDLE"^^xsd:string) AnnotationAssertion( "JMP syndrome"^^xsd:string) AnnotationAssertion( "NKJO"^^xsd:string) AnnotationAssertion( "Nakajo-Nishimura syndrome"^^xsd:string) AnnotationAssertion( "PRAAS1"^^xsd:string) AnnotationAssertion( "autoinflammation, lipodystrophy, and dermatosis syndrome"^^xsd:string) AnnotationAssertion( "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome"^^xsd:string) AnnotationAssertion( "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy"^^xsd:string) AnnotationAssertion( "proteasome-associated autoinflammatory syndrome 1, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050553"^^xsd:string) AnnotationAssertion(rdfs:label "proteasome-associated autoinflammatory syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked sideroblastic anemia with ataxia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia"^^xsd:string) "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060064"^^xsd:string) AnnotationAssertion( "GARD:668"^^xsd:string) AnnotationAssertion( "MESH:C536358"^^xsd:string) AnnotationAssertion( "MIM:301310"^^xsd:string) AnnotationAssertion( "MONDO:0010524"^^xsd:string) AnnotationAssertion( "ABCB7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ASAT"^^xsd:string) AnnotationAssertion( "Anemia, sideroblastic, spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "Pagon Bird Detter syndrome"^^xsd:string) AnnotationAssertion( "SCAX6"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anaemia and ataxia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anaemia with ataxia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anemia and ataxia"^^xsd:string) AnnotationAssertion( "X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia"^^xsd:string) AnnotationAssertion( "XLSA-A"^^xsd:string) AnnotationAssertion( "sex-linked hypochromic sideroblastic anemia"^^xsd:string) AnnotationAssertion( "sideroblastic anemia and ataxia"^^xsd:string) AnnotationAssertion( "sideroblastic anemia and spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "sideroblastic anemia with spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050554"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked sideroblastic anemia with ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (congenital muscular dystrophy) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/"^^xsd:string) Annotation( "https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy"^^xsd:string) "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9138"^^xsd:string) AnnotationAssertion( "ICD9CM:359.0"^^xsd:string) AnnotationAssertion( "ORDO:97242"^^xsd:string) AnnotationAssertion( "CMD"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, alpha-dystroglycan related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050557"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ullrich congenital muscular dystrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy"^^xsd:string) "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (DO)"^^xsd:string) AnnotationAssertion( "COL6A1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:4769"^^xsd:string) AnnotationAssertion( "MESH:C537521"^^xsd:string) AnnotationAssertion( "MIM:PS254090"^^xsd:string) AnnotationAssertion( "MONDO:0000355"^^xsd:string) AnnotationAssertion( "NCI:C123438"^^xsd:string) AnnotationAssertion( "OMIA:001967"^^xsd:string) AnnotationAssertion( "ORDO:75840"^^xsd:string) AnnotationAssertion( "UCMD"^^xsd:string) AnnotationAssertion( "Ullrich disease"^^xsd:string) AnnotationAssertion( "Ullrich scleroatonic muscular dystrophy"^^xsd:string) AnnotationAssertion( "late onset scleroatonic familial myopathy"^^xsd:string) AnnotationAssertion( "muscular dystrophy, Ullrich type"^^xsd:string) AnnotationAssertion( "scleroatonic muscular dystrophy"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy, autosomal recessive"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050558"^^xsd:string) AnnotationAssertion(rdfs:label "Ullrich congenital muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fukuyama congenital muscular dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6475"^^xsd:string) AnnotationAssertion( "MIM:253800"^^xsd:string) AnnotationAssertion( "ORDO:272"^^xsd:string) AnnotationAssertion( "FCMD"^^xsd:string) AnnotationAssertion( "Fukuyama CMD"^^xsd:string) AnnotationAssertion( "Fukuyama Syndrome"^^xsd:string) AnnotationAssertion( "Fukuyama muscular dystrophy"^^xsd:string) AnnotationAssertion( "Fukuyama type cerebromuscular dystrophy"^^xsd:string) AnnotationAssertion( "Fukuyama type congenital muscular dystrophy"^^xsd:string) AnnotationAssertion( "MDDGA4"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome, FKTN-related"^^xsd:string) AnnotationAssertion( "muscular dystrophy due to defective glycosylation of dystroglycan 4A"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050559"^^xsd:string) AnnotationAssertion(rdfs:label "Fukuyama congenital muscular dystrophy"^^xsd:string) SubClassOf( ) # Class: (Walker-Warburg syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome"^^xsd:string) "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2599"^^xsd:string) AnnotationAssertion( "MESH:D058494"^^xsd:string) AnnotationAssertion( "Chemke syndrome"^^xsd:string) AnnotationAssertion( "MEB (Muscle-Eye-Brain) Syndrome"^^xsd:string) AnnotationAssertion( "Muscle Eye Brain Disease"^^xsd:string) AnnotationAssertion( "Muscle-Eye-Brain Diseases"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation"^^xsd:string) AnnotationAssertion( "Pagon syndrome"^^xsd:string) AnnotationAssertion( "Pagon syndromes"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related"^^xsd:string) AnnotationAssertion( "Warburg syndrome"^^xsd:string) AnnotationAssertion( "alpha dystroglycanopathies"^^xsd:string) AnnotationAssertion( "WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050560"^^xsd:string) AnnotationAssertion(rdfs:label "Walker-Warburg syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lennox-Gastaut syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome"^^xsd:string) "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535500"^^xsd:string) AnnotationAssertion( "MIM:606369"^^xsd:string) AnnotationAssertion( "GARD:9912"^^xsd:string) AnnotationAssertion( "MESH:D065768"^^xsd:string) AnnotationAssertion( "NCI:C84816"^^xsd:string) AnnotationAssertion( "ORDO:2382"^^xsd:string) AnnotationAssertion( "Lennox syndrome"^^xsd:string) AnnotationAssertion( "Lennox-Gastaut syndromes"^^xsd:string) AnnotationAssertion( "childhood epileptic encephalopathy with diffuse slow spikes and waves"^^xsd:string) AnnotationAssertion( "epileptic encephalopathy, Lennox-Gastaut type"^^xsd:string) AnnotationAssertion( "macrocephaly and epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050561"^^xsd:string) AnnotationAssertion(rdfs:label "Lennox-Gastaut syndrome"^^xsd:string) SubClassOf( ) # Class: (West syndrome) AnnotationAssertion(Annotation( "PMID:24268986"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/west-syndrome/"^^xsd:string) "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:001471"^^xsd:string) AnnotationAssertion( "GARD:7887"^^xsd:string) AnnotationAssertion( "MESH:D013036"^^xsd:string) AnnotationAssertion( "NCI:C84788"^^xsd:string) AnnotationAssertion( "ORDO:3451"^^xsd:string) AnnotationAssertion( "Cryptogenic Infantile Spasm"^^xsd:string) AnnotationAssertion( "Cryptogenic West Syndrome"^^xsd:string) AnnotationAssertion( "Hypsarrhythmia"^^xsd:string) AnnotationAssertion( "Infantile Spasm"^^xsd:string) AnnotationAssertion( "Infantile Spasms"^^xsd:string) AnnotationAssertion( "Jackknife Seizure"^^xsd:string) AnnotationAssertion( "Jackknife Seizures"^^xsd:string) AnnotationAssertion( "Lightning Attack"^^xsd:string) AnnotationAssertion( "Lightning Attacks"^^xsd:string) AnnotationAssertion( "Nodding Spasm"^^xsd:string) AnnotationAssertion( "Nodding Spasms"^^xsd:string) AnnotationAssertion( "Salaam Attacks"^^xsd:string) AnnotationAssertion( "Salaam Seizures"^^xsd:string) AnnotationAssertion( "Spasmus Nutans"^^xsd:string) AnnotationAssertion( "Symptomatic Infantile Spasm"^^xsd:string) AnnotationAssertion( "cryptogenic infantile spasms"^^xsd:string) AnnotationAssertion( "hypsarrhythmias"^^xsd:string) AnnotationAssertion( "symptomatic West syndrome"^^xsd:string) AnnotationAssertion( "symptomatic infantile spasms"^^xsd:string) AnnotationAssertion( "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Neonatal encephalopathy with seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Infantile spasms syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050562"^^xsd:string) AnnotationAssertion(rdfs:label "West syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic deafness) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) Annotation( "http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742"^^xsd:string) "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009076"^^xsd:string) AnnotationAssertion( "MESH:C580334"^^xsd:string) AnnotationAssertion( "Nonsyndromic Hearing Impairment"^^xsd:string) AnnotationAssertion( "Nonsyndromic Hearing Loss"^^xsd:string) AnnotationAssertion( "isolated deafness"^^xsd:string) AnnotationAssertion( "nonsyndromic hearing loss and deafness"^^xsd:string) AnnotationAssertion( "nonsyndromic hereditary hearing loss"^^xsd:string) AnnotationAssertion( "undifferentiated deafness"^^xsd:string) AnnotationAssertion( "non-syndromic genetic deafness"^^xsd:string) AnnotationAssertion( "nonsyndromic hearing loss and deafness, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050563"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic deafness"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS124900"^^xsd:string) AnnotationAssertion( "ORDO:90635"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness"^^xsd:string) AnnotationAssertion( "DOMINANT PROGRESSIVE SENSORINEURAL HEARING LOSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050564"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:607197"^^xsd:string) AnnotationAssertion( "MESH:C564609"^^xsd:string) AnnotationAssertion( "MIM:PS220290"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050565"^^xsd:string) AnnotationAssertion(rdfs:comment "OMIM:607197 is an older phenotype record for this disease."^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked nonsyndromic deafness) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) "A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS304500"^^xsd:string) AnnotationAssertion( "ORDO:90625"^^xsd:string) AnnotationAssertion( "X-linked deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050566"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked nonsyndromic deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate"^^xsd:string) Annotation( "https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html"^^xsd:string) "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS119530"^^xsd:string) AnnotationAssertion( "MONDO:0000358"^^xsd:string) AnnotationAssertion( "CLEFT LIP/PALATE"^^xsd:string) AnnotationAssertion( "OFC"^^xsd:string) AnnotationAssertion( "cleft lip or cleft palate"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip/palate"^^xsd:string) AnnotationAssertion( "nonsyndromic orofacial cleft"^^xsd:string) AnnotationAssertion( "orofacial clefting"^^xsd:string) AnnotationAssertion( "orofacial clefts"^^xsd:string) AnnotationAssertion( "FACIAL CLEFT"^^xsd:string) AnnotationAssertion( "MEDIAN CLEFT LIP AND PALATE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050567"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylocostal dysostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondylocostal_dysostosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis"^^xsd:string) "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12174"^^xsd:string) AnnotationAssertion( "GARD:6798"^^xsd:string) AnnotationAssertion( "MIM:PS277300"^^xsd:string) AnnotationAssertion( "NCI:C125598"^^xsd:string) AnnotationAssertion( "ORDO:1797"^^xsd:string) AnnotationAssertion( "ORDO:2311"^^xsd:string) AnnotationAssertion( "costovertebral segmentation anomalies"^^xsd:string) AnnotationAssertion( "spondylothoracic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050568"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Seckel syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Seckel_syndrome"^^xsd:string) "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:8562"^^xsd:string) AnnotationAssertion( "MIM:PS210600"^^xsd:string) AnnotationAssertion( "NCI:C125488"^^xsd:string) AnnotationAssertion( "ORDO:808"^^xsd:string) AnnotationAssertion( "Harper's syndrome"^^xsd:string) AnnotationAssertion( "SCKL"^^xsd:string) AnnotationAssertion( "Virchow-Seckel dwarfism"^^xsd:string) AnnotationAssertion( "bird-headed dwarfism"^^xsd:string) AnnotationAssertion( "microcephalic primordial dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050569"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation"^^xsd:string) "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005545"^^xsd:string) AnnotationAssertion( "MIM:PS212065"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050570"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type I"^^xsd:string) SubClassOf( ) # Class: (congenital disorder of glycosylation type II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification"^^xsd:string) "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005546"^^xsd:string) AnnotationAssertion( "MESH:C535747"^^xsd:string) AnnotationAssertion( "MIM:PS212066"^^xsd:string) AnnotationAssertion( "CDG II"^^xsd:string) AnnotationAssertion( "CDGII"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050571"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type II"^^xsd:string) SubClassOf( ) # Class: (cone-rod dystrophy) AnnotationAssertion(Annotation( "http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy"^^xsd:string) "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0020029"^^xsd:string) AnnotationAssertion( "GARD:10790"^^xsd:string) AnnotationAssertion( "MESH:D000071700"^^xsd:string) AnnotationAssertion( "MIM:PS120970"^^xsd:string) AnnotationAssertion( "ORDO:1872"^^xsd:string) AnnotationAssertion( "CORD"^^xsd:string) AnnotationAssertion( "CRD"^^xsd:string) AnnotationAssertion( "cone rod degenerations"^^xsd:string) AnnotationAssertion( "cone rod retinal dystrophy"^^xsd:string) AnnotationAssertion( "cone-rod degeneration"^^xsd:string) AnnotationAssertion( "cone-rod dystrophies"^^xsd:string) AnnotationAssertion( "cone-rod retinal dystrophies"^^xsd:string) AnnotationAssertion( "autosomal recessive cone rod dystrophy"^^xsd:string) AnnotationAssertion( "cone-rod dystrophy, dominant"^^xsd:string) AnnotationAssertion( "cone-rod dystrophy, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050572"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001371"^^xsd:string) AnnotationAssertion( "GARD:10761"^^xsd:string) AnnotationAssertion( "MESH:C535306"^^xsd:string) AnnotationAssertion( "NCI:C128187"^^xsd:string) AnnotationAssertion( "2-Hga"^^xsd:string) AnnotationAssertion( "2-hydroxyglutaricaciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050573"^^xsd:string) AnnotationAssertion(rdfs:label "2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (L-2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10472"^^xsd:string) AnnotationAssertion( "MIM:236792"^^xsd:string) AnnotationAssertion( "MONDO:0009370"^^xsd:string) AnnotationAssertion( "ORDO:79314"^^xsd:string) AnnotationAssertion( "L-2-hydroxyglutaric acidemia"^^xsd:string) AnnotationAssertion( "L-2-hydroxyglutaricacidemia"^^xsd:string) AnnotationAssertion( "L2HGA"^^xsd:string) AnnotationAssertion( "L2HGDH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050574"^^xsd:string) AnnotationAssertion(rdfs:label "L-2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (D-2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5661"^^xsd:string) AnnotationAssertion( "MIM:PS600721"^^xsd:string) AnnotationAssertion( "D-2-alpha hydroxyglutaric aciduria"^^xsd:string) AnnotationAssertion( "D2HGA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050575"^^xsd:string) AnnotationAssertion(rdfs:label "D-2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome"^^xsd:string) "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)"^^xsd:string) AnnotationAssertion( "GARD:322"^^xsd:string) AnnotationAssertion( "MESH:C537580"^^xsd:string) AnnotationAssertion( "MIM:PS266900"^^xsd:string) AnnotationAssertion( "NCI:C168588"^^xsd:string) AnnotationAssertion( "ORDO:3156"^^xsd:string) AnnotationAssertion( "Renal Dysplasia And Retinal Aplasia"^^xsd:string) AnnotationAssertion( "Renal dysplasia retinal aplasia"^^xsd:string) AnnotationAssertion( "Renal-retinal syndrome"^^xsd:string) AnnotationAssertion( "Senior-Løken syndrome"^^xsd:string) AnnotationAssertion( "juvenile nephronophthisis with Leber amaurosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050576"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cranioectodermal dysplasia) AnnotationAssertion(Annotation( "PMID:20817137"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Sensenbrenner_syndrome"^^xsd:string) "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562966"^^xsd:string) AnnotationAssertion( "MIM:PS218330"^^xsd:string) AnnotationAssertion( "NCI:C129305"^^xsd:string) AnnotationAssertion( "Levin syndrome"^^xsd:string) AnnotationAssertion( "Sensenbrenner syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050577"^^xsd:string) AnnotationAssertion(rdfs:label "cranioectodermal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (occult macular dystrophy) AnnotationAssertion(Annotation( "http://www.iovs.org/content/41/2/513.full.pdf"^^xsd:string) "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO)"^^xsd:string) AnnotationAssertion( "RP1L1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613587"^^xsd:string) AnnotationAssertion( "RDO:0009914"^^xsd:string) AnnotationAssertion( "OCMD"^^xsd:string) AnnotationAssertion( "OMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050578"^^xsd:string) AnnotationAssertion(rdfs:label "occult macular dystrophy"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease XV) AnnotationAssertion(Annotation( "MIM:613507"^^xsd:string) "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613507"^^xsd:string) AnnotationAssertion( "MONDO:0013291"^^xsd:string) AnnotationAssertion( "ORDO:263297"^^xsd:string) AnnotationAssertion( "GSD XV"^^xsd:string) AnnotationAssertion( "GSD15"^^xsd:string) AnnotationAssertion( "GYG1 deficiency"^^xsd:string) AnnotationAssertion( "glycogen storage disease 15"^^xsd:string) AnnotationAssertion( "glycogen storage disease type XV"^^xsd:string) AnnotationAssertion( "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"^^xsd:string) AnnotationAssertion( "glycogenin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050579"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease XV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary lymphedema) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Milroy%27s_disease"^^xsd:string) "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C565432"^^xsd:string) AnnotationAssertion( "GARD:7220"^^xsd:string) AnnotationAssertion( "ICD9CM:757.0"^^xsd:string) AnnotationAssertion( "MIM:PS153100"^^xsd:string) AnnotationAssertion( "PCL"^^xsd:string) AnnotationAssertion( "congenital familial lymphedema"^^xsd:string) AnnotationAssertion( "congenital hereditary lymphedema"^^xsd:string) AnnotationAssertion( "congenital hereditary lymphedemas"^^xsd:string) AnnotationAssertion( "hereditary lymphedemas"^^xsd:string) AnnotationAssertion( "primary congenital lymphedema"^^xsd:string) AnnotationAssertion( "primary congenital lymphedemas"^^xsd:string) AnnotationAssertion( "congenital recessive lymphedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050580"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brachydactyly"^^xsd:string) "A dysostosis characterized by short fingers and toes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11913"^^xsd:string) AnnotationAssertion( "MESH:D059327"^^xsd:string) AnnotationAssertion( "ORDO:294937"^^xsd:string) AnnotationAssertion( "Brachydactylia"^^xsd:string) AnnotationAssertion( "Brachydactylies"^^xsd:string) AnnotationAssertion( "Brachydactylism"^^xsd:string) AnnotationAssertion( "brachydactylias"^^xsd:string) AnnotationAssertion( "brachydactylisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050581"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gummatous syphilis) AnnotationAssertion(Annotation( "PMID:31437386"^^xsd:string) "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002603"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050584"^^xsd:string) AnnotationAssertion(rdfs:label "gummatous syphilis"^^xsd:string) SubClassOf( ) # Class: (congenital generalized lipodystrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy"^^xsd:string) "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000681"^^xsd:string) AnnotationAssertion( "GARD:13388"^^xsd:string) AnnotationAssertion( "MESH:D052497"^^xsd:string) AnnotationAssertion( "MIM:PS608594"^^xsd:string) AnnotationAssertion( "Berardinelli Seip congenital lipodystrophy"^^xsd:string) AnnotationAssertion( "Berardinelli Seip syndrome"^^xsd:string) AnnotationAssertion( "Berardinelli syndrome"^^xsd:string) AnnotationAssertion( "Brunzell Syndrome (with Bone Cysts)"^^xsd:string) AnnotationAssertion( "Brunzell syndrome"^^xsd:string) AnnotationAssertion( "Seip syndrome"^^xsd:string) AnnotationAssertion( "congenital generalized lipodystrophies"^^xsd:string) AnnotationAssertion( "congenital lipoatrophic diabetes"^^xsd:string) AnnotationAssertion( "generalized lipodystrophies"^^xsd:string) AnnotationAssertion( "generalized lipodystrophy"^^xsd:string) AnnotationAssertion( "total lipodystrophies"^^xsd:string) AnnotationAssertion( "total lipodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050585"^^xsd:string) AnnotationAssertion(rdfs:label "congenital generalized lipodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trichotillomania) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Trichotillomania"^^xsd:string) "An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613229"^^xsd:string) AnnotationAssertion( "GARD:7803"^^xsd:string) AnnotationAssertion( "MESH:D014256"^^xsd:string) AnnotationAssertion( "TTM"^^xsd:string) AnnotationAssertion( "trichotillomanias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050587"^^xsd:string) AnnotationAssertion(rdfs:label "trichotillomania"^^xsd:string) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B1) AnnotationAssertion(Annotation( "MIM:613155"^^xsd:string) "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9001544"^^xsd:string) AnnotationAssertion( "MIM:613155"^^xsd:string) AnnotationAssertion( "CMD due to dystroglycanopathy"^^xsd:string) AnnotationAssertion( "MDDGB1"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1"^^xsd:string) AnnotationAssertion( "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, POMT1-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B1"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), type B, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050588"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inflammatory_bowel_disease"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908"^^xsd:string) "An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003767"^^xsd:string) AnnotationAssertion( "MESH:D015212"^^xsd:string) AnnotationAssertion( "MIM:PS266600"^^xsd:string) AnnotationAssertion( "MIM:PS614328"^^xsd:string) AnnotationAssertion( "MONDO:0005265"^^xsd:string) AnnotationAssertion( "NCI:C3138"^^xsd:string) AnnotationAssertion( "inflammatory bowel diseases"^^xsd:string) AnnotationAssertion( "EARLY-ONSET INFLAMMATORY BOWEL DISEASE"^^xsd:string) AnnotationAssertion( "VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE"^^xsd:string) AnnotationAssertion( "regional enteritis"^^xsd:string) AnnotationAssertion( "ulcerative colitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Inflammatory bowel disease 1, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050589"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia) AnnotationAssertion(Annotation( "PMID:17133096"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia"^^xsd:string) "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13592"^^xsd:string) AnnotationAssertion( "MIM:PS202700"^^xsd:string) AnnotationAssertion( "ORDO:42738"^^xsd:string) AnnotationAssertion( "ORDO:486"^^xsd:string) AnnotationAssertion( "ORDO:86788"^^xsd:string) AnnotationAssertion( "congenital neutropenia"^^xsd:string) AnnotationAssertion( "infantile genetic agranulocytosis"^^xsd:string) AnnotationAssertion( "primary neutropenia"^^xsd:string) AnnotationAssertion( "severe infantile genetic agranulocytosis"^^xsd:string) AnnotationAssertion( "severe infantile genetic neutropenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050590"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tooth agenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypodontia"^^xsd:string) "A tooth disease characterized by failure to develop one or more missing teeth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:147330"^^xsd:string) AnnotationAssertion( "EFO:0005410"^^xsd:string) AnnotationAssertion( "MIM:PS106600"^^xsd:string) AnnotationAssertion( "NCI:C172328"^^xsd:string) AnnotationAssertion( "ORDO:2227"^^xsd:string) AnnotationAssertion( "ORDO:99798"^^xsd:string) AnnotationAssertion( "familial tooth agenesis"^^xsd:string) AnnotationAssertion( "hypodontia"^^xsd:string) AnnotationAssertion( "oligodontia"^^xsd:string) AnnotationAssertion( "reduced number of teeth"^^xsd:string) AnnotationAssertion( "selective tooth agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050591"^^xsd:string) AnnotationAssertion(rdfs:label "tooth agenesis"^^xsd:string) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy"^^xsd:string) "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012779"^^xsd:string) AnnotationAssertion( "MIM:PS208500"^^xsd:string) AnnotationAssertion( "NCI:C84794"^^xsd:string) AnnotationAssertion( "ORDO:474"^^xsd:string) AnnotationAssertion( "Jeune syndrome"^^xsd:string) AnnotationAssertion( "Jeune thoracic dysplasia"^^xsd:string) AnnotationAssertion( "Jeune thoracic dystrophy"^^xsd:string) AnnotationAssertion( "Jeune's syndrome"^^xsd:string) AnnotationAssertion( "asphyxiating thoracic dystrophy (ATD)"^^xsd:string) AnnotationAssertion( "short rib polydactyly syndrome, Majewski type"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndromes"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia with or without polydactyly"^^xsd:string) AnnotationAssertion( "thoracic pelvic phalangeal dystrophy"^^xsd:string) AnnotationAssertion( "short ribs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050592"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary congenital glaucoma) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/early-onset-glaucoma"^^xsd:string) "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C150251"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050593"^^xsd:string) AnnotationAssertion(rdfs:label "primary congenital glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease IX) AnnotationAssertion(Annotation( "PMID:17689125"^^xsd:string) Annotation( "PMID:25266922"^^xsd:string) "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C580130"^^xsd:string) AnnotationAssertion( "RDO:0015892"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 9"^^xsd:string) AnnotationAssertion( "Gsd Ix"^^xsd:string) AnnotationAssertion( "Gsdix"^^xsd:string) AnnotationAssertion( "Phk Deficiency"^^xsd:string) AnnotationAssertion( "Phosphorylase B Kinase Deficiency"^^xsd:string) AnnotationAssertion( "Phosphorylase Kinase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050594"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IX"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (taeniasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Taeniasis"^^xsd:string) "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001433"^^xsd:string) AnnotationAssertion( "ICD10CM:B68.1"^^xsd:string) AnnotationAssertion( "ICD9CM:123.2"^^xsd:string) AnnotationAssertion( "MESH:D013622"^^xsd:string) AnnotationAssertion( "beef tapeworm infection"^^xsd:string) AnnotationAssertion( "infection by Taeniarhynchus saginatus"^^xsd:string) AnnotationAssertion( "taenia infection"^^xsd:string) AnnotationAssertion( "taenia infections"^^xsd:string) AnnotationAssertion( "taenia saginata infectious disease"^^xsd:string) AnnotationAssertion( "taeniases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050596"^^xsd:string) AnnotationAssertion(rdfs:label "taeniasis"^^xsd:string) SubClassOf( ) # Class: (intestinal schistosomiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schistosomiasis"^^xsd:string) "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001419"^^xsd:string) AnnotationAssertion( "ICD10CM:B65.1"^^xsd:string) AnnotationAssertion( "ICD10CM:B65.2"^^xsd:string) AnnotationAssertion( "ICD9CM:120.1"^^xsd:string) AnnotationAssertion( "ICD9CM:120.2"^^xsd:string) AnnotationAssertion( "NCI:C35364"^^xsd:string) AnnotationAssertion( "ORDO:1247"^^xsd:string) AnnotationAssertion( "intestinal schistosomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050597"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal schistosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrapulmonary tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "A tuberculosis that occurs at body sites other than the lung. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000092225"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050598"^^xsd:string) AnnotationAssertion(rdfs:label "extrapulmonary tuberculosis"^^xsd:string) SubClassOf( ) # Class: (abdominal tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050599"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal tuberculosis"^^xsd:string) SubClassOf( ) # Class: (ABCD syndrome) AnnotationAssertion(Annotation( "MIM:600501"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/ABCD_syndrome"^^xsd:string) "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535334"^^xsd:string) AnnotationAssertion( "MIM:600501"^^xsd:string) AnnotationAssertion( "MONDO:0010895"^^xsd:string) AnnotationAssertion( "ORDO:918"^^xsd:string) AnnotationAssertion( "ABCDS"^^xsd:string) AnnotationAssertion( "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050600"^^xsd:string) AnnotationAssertion(rdfs:label "ABCD syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ADULT syndrome) AnnotationAssertion(Annotation( "PMID:16114047"^^xsd:string) "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "GARD:384"^^xsd:string) AnnotationAssertion( "MESH:C538052"^^xsd:string) AnnotationAssertion( "MIM:103285"^^xsd:string) AnnotationAssertion( "MONDO:0007072"^^xsd:string) AnnotationAssertion( "acro-dermato-ungual-lacrimal-tooth syndrome"^^xsd:string) AnnotationAssertion( "pigment anomaly ectrodactyly hypodontia"^^xsd:string) AnnotationAssertion( "propping Zerres syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050601"^^xsd:string) AnnotationAssertion(rdfs:label "ADULT syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (triple-A syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/triple-a-syndrome"^^xsd:string) "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231550"^^xsd:string) AnnotationAssertion( "EFO:1001997"^^xsd:string) AnnotationAssertion( "GARD:457"^^xsd:string) AnnotationAssertion( "MESH:C536008"^^xsd:string) AnnotationAssertion( "MONDO:0009279"^^xsd:string) AnnotationAssertion( "NCI:C35710"^^xsd:string) AnnotationAssertion( "AAA syndrome"^^xsd:string) AnnotationAssertion( "AAAS"^^xsd:string) AnnotationAssertion( "AAAS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME"^^xsd:string) AnnotationAssertion( "Achalasia Addisonianism Alacrimia Syndrome"^^xsd:string) AnnotationAssertion( "Achalasia alacrimia syndrome"^^xsd:string) AnnotationAssertion( "Achalasia-Addisonian Syndrome"^^xsd:string) AnnotationAssertion( "Achalasia-Alacrima Syndrome"^^xsd:string) AnnotationAssertion( "Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima"^^xsd:string) AnnotationAssertion( "Alacrima-Achalasia-Addisonianism"^^xsd:string) AnnotationAssertion( "Alacrima-achalasia-adrenal insufficiency neurologic disorder"^^xsd:string) AnnotationAssertion( "Allgrove syndrome"^^xsd:string) AnnotationAssertion( "GLUCOCORTICOID DEFICIENCY WITH ACHALASIA"^^xsd:string) AnnotationAssertion( "achalasia-addisonianism-alacrima syndrome"^^xsd:string) AnnotationAssertion( "glucocorticoid deficiency and achalasia"^^xsd:string) AnnotationAssertion( "hypoadrenalism with achalasia"^^xsd:string) AnnotationAssertion( "infantile achalasia with alacrima"^^xsd:string) AnnotationAssertion( "ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050602"^^xsd:string) AnnotationAssertion(rdfs:label "triple-A syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acheiropody) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acheiropodia"^^xsd:string) "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200500"^^xsd:string) AnnotationAssertion( "GARD:376"^^xsd:string) AnnotationAssertion( "MESH:C536014"^^xsd:string) AnnotationAssertion( "ACHP"^^xsd:string) AnnotationAssertion( "Brazilian type acheiropody"^^xsd:string) AnnotationAssertion( "Horn-Kolb syndrome"^^xsd:string) AnnotationAssertion( "acheiropodia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050603"^^xsd:string) AnnotationAssertion(rdfs:label "acheiropody"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrocapitofemoral dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia"^^xsd:string) "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)"^^xsd:string) AnnotationAssertion( "IHH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10605"^^xsd:string) AnnotationAssertion( "MESH:C564334"^^xsd:string) AnnotationAssertion( "MIM:607778"^^xsd:string) AnnotationAssertion( "MONDO:0011907"^^xsd:string) AnnotationAssertion( "ACFD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050604"^^xsd:string) AnnotationAssertion(rdfs:label "acrocapitofemoral dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrodermatitis enteropathica) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica"^^xsd:string) "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)"^^xsd:string) AnnotationAssertion( "SLC39A4-related condition"^^xsd:string) AnnotationAssertion( "GARD:5723"^^xsd:string) AnnotationAssertion( "MESH:C538178"^^xsd:string) AnnotationAssertion( "MIM:201100"^^xsd:string) AnnotationAssertion( "MONDO:0008713"^^xsd:string) AnnotationAssertion( "NCI:C128802"^^xsd:string) AnnotationAssertion( "AEZ"^^xsd:string) AnnotationAssertion( "Acrodermatitis enteropathica zinc deficiency type"^^xsd:string) AnnotationAssertion( "hereditary acrodermatitis enteropathica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050605"^^xsd:string) AnnotationAssertion(rdfs:label "acrodermatitis enteropathica"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrokeratosis verruciformis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis"^^xsd:string) "A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ATP2A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:1000666"^^xsd:string) AnnotationAssertion( "MIM:101900"^^xsd:string) AnnotationAssertion( "MONDO:0007048"^^xsd:string) AnnotationAssertion( "AKV"^^xsd:string) AnnotationAssertion( "Hopf acrokeratosis verruciformis"^^xsd:string) AnnotationAssertion( "Hopf disease"^^xsd:string) AnnotationAssertion( "acrokeratosis verruciformis of Hopf"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050606"^^xsd:string) AnnotationAssertion(rdfs:label "acrokeratosis verruciformis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Askin's tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Askin%27s_tumor"^^xsd:string) "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000095"^^xsd:string) AnnotationAssertion( "MESH:C563168"^^xsd:string) AnnotationAssertion( "MONDO:0006094"^^xsd:string) AnnotationAssertion( "NCI:C7542"^^xsd:string) AnnotationAssertion( "Askin tumor"^^xsd:string) AnnotationAssertion( "Askin tumour"^^xsd:string) AnnotationAssertion( "Askin's tumour"^^xsd:string) AnnotationAssertion( "PNET of thoracopulmonary region"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050608"^^xsd:string) AnnotationAssertion(rdfs:label "Askin's tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral cavity carcinoma in situ) AnnotationAssertion(Annotation( "https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/"^^xsd:string) "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050610"^^xsd:string) AnnotationAssertion(rdfs:label "oral cavity carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pharynx carcinoma in situ) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer"^^xsd:string) "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050611"^^xsd:string) AnnotationAssertion(rdfs:label "pharynx carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder carcinoma in situ) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gallbladder_cancer"^^xsd:string) Annotation( "https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html"^^xsd:string) "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "gall bladder carcinoma in situ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050612"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct carcinoma in situ) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cholangiocarcinoma"^^xsd:string) "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050613"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchus carcinoma in situ) AnnotationAssertion(Annotation( "PMID:10858385"^^xsd:string) "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003570"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050614"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (respiratory system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm"^^xsd:string) "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002222"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050615"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (paranasal sinus cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1"^^xsd:string) "A respiratory system cancer that is located_in the paranasal sinuses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000454"^^xsd:string) AnnotationAssertion( "NCI:C6014"^^xsd:string) AnnotationAssertion( "NCI:C6017"^^xsd:string) AnnotationAssertion( "NCI:C6018"^^xsd:string) AnnotationAssertion( "NCI:C6019"^^xsd:string) AnnotationAssertion( "NCI:C8193"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6019"^^xsd:string) "adenoid cystic carcinoma of Accessory sinus"^^xsd:string) AnnotationAssertion( "cancer of paranasal sinus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8193"^^xsd:string) "epidermoid carcinoma of the paranasal sinus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6018"^^xsd:string) "mucoepidermoid carcinoma of accessory sinus"^^xsd:string) AnnotationAssertion( "paranasal sinus adenocarcinoma"^^xsd:string) AnnotationAssertion( "paranasal sinus adenoid cystic carcinoma"^^xsd:string) AnnotationAssertion( "paranasal sinus cancers"^^xsd:string) AnnotationAssertion( "paranasal sinus mucoepidermoid carcinoma"^^xsd:string) AnnotationAssertion( "paranasal sinus squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of paranasal sinus"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of paranasal sinus"^^xsd:string) AnnotationAssertion( "DOID:0050619"^^xsd:string) AnnotationAssertion(rdfs:label "paranasal sinus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infiltrating renal pelvis transitional cell carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string) "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050620"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating renal pelvis transitional cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (respiratory system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Respiratory_system"^^xsd:string) "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9002406"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050621"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (reproductive organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reproductive_system"^^xsd:string) "An organ system benign neoplasm that is located_in reproductive system organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050622"^^xsd:string) AnnotationAssertion(rdfs:label "reproductive organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/"^^xsd:string) "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050623"^^xsd:string) AnnotationAssertion(rdfs:label "bladder benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string) "An organ system benign neoplasm located_in gastrointestinal tract organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050624"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biliary tract benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract"^^xsd:string) "A hepatobiliary benign neoplasm located_in the biliary tract. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003891"^^xsd:string) AnnotationAssertion( "MESH:D001661"^^xsd:string) AnnotationAssertion( "NCI:C4441"^^xsd:string) AnnotationAssertion( "biliary tract neoplasms"^^xsd:string) AnnotationAssertion( "extrahepatic bile duct neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of extrahepatic bile ducts"^^xsd:string) AnnotationAssertion( "tumor of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050625"^^xsd:string) AnnotationAssertion(rdfs:label "biliary tract benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal neuroendocrine tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44904"^^xsd:string) "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "gastrointestinal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "malignant gastrointestinal neuroendocrine tumor"^^xsd:string) AnnotationAssertion( "malignant gastrointestinal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050626"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal neuroendocrine tumor"^^xsd:string) SubClassOf( ) # Class: (advanced sleep phase syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome"^^xsd:string) "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020178"^^xsd:string) AnnotationAssertion( "MIM:PS604348"^^xsd:string) AnnotationAssertion( "ORDO:164736"^^xsd:string) AnnotationAssertion( "Shift Work Sleep Disorder"^^xsd:string) AnnotationAssertion( "Shift-Work Sleep Disorders"^^xsd:string) AnnotationAssertion( "circadian rhythm sleep disorders"^^xsd:string) AnnotationAssertion( "disturbed nyctohemeral rhythm"^^xsd:string) AnnotationAssertion( "disturbed nyctohemeral rhythms"^^xsd:string) AnnotationAssertion( "familial advanced sleep-phase syndrome"^^xsd:string) AnnotationAssertion( "non 24 hour sleep wake disorder"^^xsd:string) AnnotationAssertion( "nonorganic sleep wake cycle disorders"^^xsd:string) AnnotationAssertion( "sleep wake cycle disorders"^^xsd:string) AnnotationAssertion( "sleep wake schedule disorders"^^xsd:string) AnnotationAssertion( "sleep-wake cycle disorder"^^xsd:string) AnnotationAssertion( "sleep-wake schedule disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050628"^^xsd:string) AnnotationAssertion(rdfs:label "advanced sleep phase syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aicardi-Goutieres syndrome) AnnotationAssertion(Annotation( "MIM:225750"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1475/"^^xsd:string) Annotation( "https://agsaa.org/about-ags"^^xsd:string) "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)"^^xsd:string) AnnotationAssertion( "GARD:575"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.8"^^xsd:string) AnnotationAssertion( "MESH:C535607"^^xsd:string) AnnotationAssertion( "MIM:PS225750"^^xsd:string) AnnotationAssertion( "NCI:C206077"^^xsd:string) AnnotationAssertion( "ORDO:51"^^xsd:string) AnnotationAssertion( "AGS"^^xsd:string) AnnotationAssertion( "Cree encephalitis"^^xsd:string) AnnotationAssertion( "encephalopathy with basal ganglia calcification"^^xsd:string) AnnotationAssertion( "familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis"^^xsd:string) AnnotationAssertion( "pseudotoxoplasmosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050629"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aland Island eye disease) AnnotationAssertion(Annotation( "MIM:300600"^^xsd:string) "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300600"^^xsd:string) AnnotationAssertion( "GARD:10574"^^xsd:string) AnnotationAssertion( "MESH:C562664"^^xsd:string) AnnotationAssertion( "AIED"^^xsd:string) AnnotationAssertion( "Forsius-Eriksson syndrome"^^xsd:string) AnnotationAssertion( "Forsius-Eriksson type ocular albinism"^^xsd:string) AnnotationAssertion( "ocular albinism, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050630"^^xsd:string) AnnotationAssertion(rdfs:label "Aland Island eye disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Allan-Herndon-Dudley syndrome) AnnotationAssertion(Annotation( "MIM:300523"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome"^^xsd:string) "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5617"^^xsd:string) AnnotationAssertion( "MESH:C537047"^^xsd:string) AnnotationAssertion( "MIM:300523"^^xsd:string) AnnotationAssertion( "MONDO:0010354"^^xsd:string) AnnotationAssertion( "NCI:C118843"^^xsd:string) AnnotationAssertion( "ORDO:59"^^xsd:string) AnnotationAssertion( "AHDS"^^xsd:string) AnnotationAssertion( "Allan-Herndon syndrome"^^xsd:string) AnnotationAssertion( "MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency"^^xsd:string) AnnotationAssertion( "Monocarboxylate Transporter 8 (Mct8) Deficiency"^^xsd:string) AnnotationAssertion( "Monocarboxylate transporter-8 deficiency"^^xsd:string) AnnotationAssertion( "SLC16A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "T3 resistance"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with hypotonia"^^xsd:string) AnnotationAssertion( "mental retardation and muscular atrophy"^^xsd:string) AnnotationAssertion( "triiodothyronine resistance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050631"^^xsd:string) AnnotationAssertion(rdfs:label "Allan-Herndon-Dudley syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculocutaneous albinism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oculocutaneous_albinism"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism"^^xsd:string) "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10958"^^xsd:string) AnnotationAssertion( "MESH:D016115"^^xsd:string) AnnotationAssertion( "MIM:PS203100"^^xsd:string) AnnotationAssertion( "ORDO:55"^^xsd:string) AnnotationAssertion( "tyrosinase-negative albinism"^^xsd:string) AnnotationAssertion( "tyrosinase-positive albinism"^^xsd:string) AnnotationAssertion( "yellow mutant albinism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050632"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ocular albinism 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ocular-albinism"^^xsd:string) "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005467"^^xsd:string) AnnotationAssertion( "MESH:C537863"^^xsd:string) AnnotationAssertion( "MIM:300500"^^xsd:string) AnnotationAssertion( "GPR143-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:D016117"^^xsd:string) AnnotationAssertion( "NCI:C118785"^^xsd:string) AnnotationAssertion( "Nettleship-Falls type ocular albinism"^^xsd:string) AnnotationAssertion( "OA1"^^xsd:string) AnnotationAssertion( "Ocular Albinism Type 1"^^xsd:string) AnnotationAssertion( "ocular albinism"^^xsd:string) AnnotationAssertion( "ocular albinism type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050633"^^xsd:string) AnnotationAssertion(rdfs:label "ocular albinism 1"^^xsd:string) SubClassOf( ) # Class: (alopecia universalis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis"^^xsd:string) "An alopecia characterized by the complete loss of hair on the scalp and body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203655"^^xsd:string) AnnotationAssertion( "HR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:614"^^xsd:string) AnnotationAssertion( "MESH:C537055"^^xsd:string) AnnotationAssertion( "ALUNC"^^xsd:string) AnnotationAssertion( "alopecia universalis congenita"^^xsd:string) AnnotationAssertion( "generalized atrichia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050634"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia universalis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alternating hemiplegia of childhood) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood"^^xsd:string) "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11"^^xsd:string) AnnotationAssertion( "ICD10CM:G98"^^xsd:string) AnnotationAssertion( "MESH:C536589"^^xsd:string) AnnotationAssertion( "MIM:PS104290"^^xsd:string) AnnotationAssertion( "ORDO:2131"^^xsd:string) AnnotationAssertion( "AHC"^^xsd:string) AnnotationAssertion( "alternating hemiplegia"^^xsd:string) AnnotationAssertion( "alternating hemiplegia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050635"^^xsd:string) AnnotationAssertion(rdfs:label "alternating hemiplegia of childhood"^^xsd:string) SubClassOf( ) # Class: (familial visceral amyloidosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Familial_renal_amyloidosis"^^xsd:string) "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8282"^^xsd:string) AnnotationAssertion( "MESH:C538249"^^xsd:string) AnnotationAssertion( "MIM:105200"^^xsd:string) AnnotationAssertion( "MONDO:0007099"^^xsd:string) AnnotationAssertion( "ORDO:85450"^^xsd:string) AnnotationAssertion( "German type amyloidosis"^^xsd:string) AnnotationAssertion( "Ostertag type amyloidosis"^^xsd:string) AnnotationAssertion( "amyloidosis 8"^^xsd:string) AnnotationAssertion( "amyloidosis VIII"^^xsd:string) AnnotationAssertion( "systemic nonneuropathic amyloidosis"^^xsd:string) AnnotationAssertion( "AFIB AMYLOIDOSIS"^^xsd:string) AnnotationAssertion( "AMYLD2"^^xsd:string) AnnotationAssertion( "cardiac and cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "familial renal amyloidosis"^^xsd:string) AnnotationAssertion( "hereditary systemic amyloidosis-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050636"^^xsd:string) AnnotationAssertion(rdfs:label "familial visceral amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Finnish type amyloidosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type"^^xsd:string) "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)"^^xsd:string) AnnotationAssertion( "GSN-related condition"^^xsd:string) AnnotationAssertion( "GARD:2339"^^xsd:string) AnnotationAssertion( "MESH:C537459"^^xsd:string) AnnotationAssertion( "MIM:105120"^^xsd:string) AnnotationAssertion( "MONDO:0007097"^^xsd:string) AnnotationAssertion( "ORDO:85448"^^xsd:string) AnnotationAssertion( "AGel amyloidosis"^^xsd:string) AnnotationAssertion( "Familial Amyloid Polyneuropathy Type Iv"^^xsd:string) AnnotationAssertion( "Familial Amyloidosis, Finnish Type"^^xsd:string) AnnotationAssertion( "Finnish type familial amyloid neuropathy"^^xsd:string) AnnotationAssertion( "Kymenlaakso syndrome"^^xsd:string) AnnotationAssertion( "Meretoja syndrome"^^xsd:string) AnnotationAssertion( "Meretoja type amyloidosis"^^xsd:string) AnnotationAssertion( "Meretoja's syndrome"^^xsd:string) AnnotationAssertion( "amyloid cranial neuropathy with lattice corneal dystrophy"^^xsd:string) AnnotationAssertion( "amyloidosis 5"^^xsd:string) AnnotationAssertion( "amyloidosis V"^^xsd:string) AnnotationAssertion( "amyloidosis due to mutant gelsolin"^^xsd:string) AnnotationAssertion( "cerebral amyloid angiopathy, GSN-related"^^xsd:string) AnnotationAssertion( "gelsolin amyloidosis"^^xsd:string) AnnotationAssertion( "gelsolin-related amyloidosis"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy associated with familial systemic amyloidosis"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy, Gelsolin type"^^xsd:string) AnnotationAssertion( "lattice dystrophy of the cornea with hereditary generalized amyloidosis"^^xsd:string) AnnotationAssertion( "LCD2"^^xsd:string) AnnotationAssertion( "corneal dystrophy, lattice type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050637"^^xsd:string) AnnotationAssertion(rdfs:label "Finnish type amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transthyretin amyloidosis) AnnotationAssertion(Annotation( "PMID:19372706"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1194/"^^xsd:string) Annotation( "http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451"^^xsd:string) Annotation( "http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1194/"^^xsd:string) "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050761"^^xsd:string) AnnotationAssertion( "MIM:105210"^^xsd:string) AnnotationAssertion( "EFO:0004129"^^xsd:string) AnnotationAssertion( "GARD:656"^^xsd:string) AnnotationAssertion( "ICD10CM:E85.82"^^xsd:string) AnnotationAssertion( "MESH:C567782"^^xsd:string) AnnotationAssertion( "ORDO:85447"^^xsd:string) AnnotationAssertion( "ATTR amyloidosis"^^xsd:string) AnnotationAssertion( "ATTRm amyloidosis"^^xsd:string) AnnotationAssertion( "Corino de Andrade's disease"^^xsd:string) AnnotationAssertion( "TTR amyloidosis"^^xsd:string) AnnotationAssertion( "amyloidogenic transthyretin amyloidosis"^^xsd:string) AnnotationAssertion( "familial transthyretin amyloidosis"^^xsd:string) AnnotationAssertion( "familial transthyretin cardiac amyloidosis"^^xsd:string) AnnotationAssertion( "hereditary amyloidosis, transthyretin-related"^^xsd:string) AnnotationAssertion( "paramyloidosis"^^xsd:string) AnnotationAssertion( "AMYLOID POLYNEUROPATHY, FAMILIAL"^^xsd:string) AnnotationAssertion( "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED"^^xsd:string) AnnotationAssertion( "amyloid cardiomyopathy, transthyretin-related"^^xsd:string) AnnotationAssertion( "leptomeningeal FAP amyloidosis, transthyretin-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hereditary amyloidosis, transthyretin-related, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0050638"^^xsd:string) AnnotationAssertion(rdfs:label "transthyretin amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary cutaneous amyloidosis) AnnotationAssertion(Annotation( "PMID:19663869"^^xsd:string) "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562643"^^xsd:string) AnnotationAssertion( "GARD:132"^^xsd:string) AnnotationAssertion( "MESH:C562642"^^xsd:string) AnnotationAssertion( "MIM:PS105250"^^xsd:string) AnnotationAssertion( "ORDO:137807"^^xsd:string) AnnotationAssertion( "ORDO:353220"^^xsd:string) AnnotationAssertion( "Amyloidosis IX"^^xsd:string) AnnotationAssertion( "PCA"^^xsd:string) AnnotationAssertion( "familial cutaneous lichen amyloidosis"^^xsd:string) AnnotationAssertion( "familial lichen amyloidosis"^^xsd:string) AnnotationAssertion( "familial primary localized cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "primary localized cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050639"^^xsd:string) AnnotationAssertion(rdfs:label "primary cutaneous amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anauxetic dysplasia 1) AnnotationAssertion(Annotation( "PMID:16252239"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK84550/"^^xsd:string) "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607095"^^xsd:string) AnnotationAssertion( "GARD:9657"^^xsd:string) AnnotationAssertion( "MESH:C538256"^^xsd:string) AnnotationAssertion( "ANXD"^^xsd:string) AnnotationAssertion( "ANXD1"^^xsd:string) AnnotationAssertion( "Spondylometaepiphyseal dysplasia, Anauxetic type"^^xsd:string) AnnotationAssertion( "Spondylometaepiphyseal dysplasia, Menger type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050640"^^xsd:string) AnnotationAssertion(rdfs:label "anauxetic dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rh deficiency syndrome) AnnotationAssertion(Annotation( "PMID:3103426"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome"^^xsd:string) "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564833"^^xsd:string) AnnotationAssertion( "MIM:268150"^^xsd:string) AnnotationAssertion( "RHAG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:12916"^^xsd:string) AnnotationAssertion( "MESH:C562717"^^xsd:string) AnnotationAssertion( "RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE"^^xsd:string) AnnotationAssertion( "RH-mod syndrome"^^xsd:string) AnnotationAssertion( "RHN"^^xsd:string) AnnotationAssertion( "Rh-null disease"^^xsd:string) AnnotationAssertion( "Rh-null syndrome"^^xsd:string) AnnotationAssertion( "Rh-null, regulator type"^^xsd:string) AnnotationAssertion( "RHD NEGATIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050641"^^xsd:string) AnnotationAssertion(rdfs:label "Rh deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypochromic microcytic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypochromic_anemia"^^xsd:string) "A microcytic anemia characterized by paler than normal blood cells. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536357"^^xsd:string) AnnotationAssertion( "RDO:0001912"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050642"^^xsd:string) AnnotationAssertion(rdfs:label "hypochromic microcytic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (arterial calcification of infancy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification"^^xsd:string) Annotation( "http://www.omim.org/entry/208000"^^xsd:string) "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8380"^^xsd:string) AnnotationAssertion( "MESH:C537440"^^xsd:string) AnnotationAssertion( "MIM:PS208000"^^xsd:string) AnnotationAssertion( "ORDO:51608"^^xsd:string) AnnotationAssertion( "GACI"^^xsd:string) AnnotationAssertion( "IIAC"^^xsd:string) AnnotationAssertion( "generalized arterial calcification in infancy"^^xsd:string) AnnotationAssertion( "generalized arterial calcification, of infancy"^^xsd:string) AnnotationAssertion( "idiopathic infantile arterial calcification"^^xsd:string) AnnotationAssertion( "infantile arteriosclerosis"^^xsd:string) AnnotationAssertion( "occlusive infantile arteriopathy"^^xsd:string) AnnotationAssertion( "ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050644"^^xsd:string) AnnotationAssertion(rdfs:label "arterial calcification of infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arterial tortuosity syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome"^^xsd:string) "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208050"^^xsd:string) AnnotationAssertion( "GARD:774"^^xsd:string) AnnotationAssertion( "MESH:C565942"^^xsd:string) AnnotationAssertion( "ATS"^^xsd:string) AnnotationAssertion( "SLC2A10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "arterial tortuosity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050645"^^xsd:string) AnnotationAssertion(rdfs:label "arterial tortuosity syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arthrogryposis"^^xsd:string) "A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:786"^^xsd:string) AnnotationAssertion( "MIM:PS108120"^^xsd:string) AnnotationAssertion( "ORDO:1147"^^xsd:string) AnnotationAssertion( "ORDO:97120"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita"^^xsd:string) AnnotationAssertion( "DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050646"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arts syndrome) AnnotationAssertion(Annotation( "ORDO:1187"^^xsd:string) Annotation( "PMID:20301738"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/arts-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK2591/"^^xsd:string) Annotation( "http://www.omim.org/entry/301835"^^xsd:string) "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301835"^^xsd:string) AnnotationAssertion( "GARD:8756"^^xsd:string) AnnotationAssertion( "MESH:C535388"^^xsd:string) AnnotationAssertion( "ORDO:1187"^^xsd:string) AnnotationAssertion( "ARTS"^^xsd:string) AnnotationAssertion( "MRXS18"^^xsd:string) AnnotationAssertion( "MRXSARTS"^^xsd:string) AnnotationAssertion( "fatal X-linked ataxia with deafness and loss of vision"^^xsd:string) AnnotationAssertion( "lethal ataxia with deafness and optic atrophy"^^xsd:string) AnnotationAssertion( "lethal ataxia-deafness-optic atrophy"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 18"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation Arts type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050647"^^xsd:string) AnnotationAssertion(rdfs:label "Arts syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atelosteogenesis) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1"^^xsd:string) "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS108720"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050648"^^xsd:string) AnnotationAssertion(rdfs:label "atelosteogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atransferrinemia) AnnotationAssertion(Annotation( "MIM:209300"^^xsd:string) Annotation( "PMID:29969719"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Atransferrinemia"^^xsd:string) "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209300"^^xsd:string) AnnotationAssertion( "GARD:9595"^^xsd:string) AnnotationAssertion( "MESH:C538259"^^xsd:string) AnnotationAssertion( "NCI:C125693"^^xsd:string) AnnotationAssertion( "ORDO:1195"^^xsd:string) AnnotationAssertion( "Congenital Atransferrinemia"^^xsd:string) AnnotationAssertion( "Familial hypotransferrinemia"^^xsd:string) AnnotationAssertion( "TF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TRANSFERRIN VARIANT CHI"^^xsd:string) AnnotationAssertion( "DOID:0050649"^^xsd:string) AnnotationAssertion(rdfs:label "atransferrinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial atrial fibrillation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_atrial_fibrillation"^^xsd:string) "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9740"^^xsd:string) AnnotationAssertion( "MIM:PS608583"^^xsd:string) AnnotationAssertion( "ORDO:334"^^xsd:string) AnnotationAssertion( "ATFB"^^xsd:string) AnnotationAssertion( "familial atrial fibrillations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050650"^^xsd:string) AnnotationAssertion(rdfs:label "familial atrial fibrillation"^^xsd:string) SubClassOf( ) # Class: (atrioventricular septal defect) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atrioventricular_septal_defect"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/heartdefects/avsd.html"^^xsd:string) "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606215"^^xsd:string) AnnotationAssertion( "GARD:802"^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.2"^^xsd:string) AnnotationAssertion( "ICD9CM:745.6"^^xsd:string) AnnotationAssertion( "MESH:C562831"^^xsd:string) AnnotationAssertion( "MIM:PS606215"^^xsd:string) AnnotationAssertion( "NCI:C101029"^^xsd:string) AnnotationAssertion( "ORDO:98722"^^xsd:string) AnnotationAssertion( "AVC defect"^^xsd:string) AnnotationAssertion( "AVCD"^^xsd:string) AnnotationAssertion( "AVSD"^^xsd:string) AnnotationAssertion( "Atrioventricular Canal Defect"^^xsd:string) AnnotationAssertion( "ECD"^^xsd:string) AnnotationAssertion( "endocardial cushion defect"^^xsd:string) AnnotationAssertion( "AVSD1"^^xsd:string) AnnotationAssertion( "atrioventricular septal defect, somatic"^^xsd:string) AnnotationAssertion( "atrioventricular septal defect, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050651"^^xsd:string) AnnotationAssertion(rdfs:label "atrioventricular septal defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Baller-Gerold syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1204/"^^xsd:string) "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:218600"^^xsd:string) AnnotationAssertion( "GARD:1602"^^xsd:string) AnnotationAssertion( "MESH:C536788"^^xsd:string) AnnotationAssertion( "ORDO:1223"^^xsd:string) AnnotationAssertion( "BGS"^^xsd:string) AnnotationAssertion( "craniosynostosis with radial defects"^^xsd:string) AnnotationAssertion( "craniosynostosis-radial aplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050654"^^xsd:string) AnnotationAssertion(rdfs:label "Baller-Gerold syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bamforth-Lazarus syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome"^^xsd:string) "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241850"^^xsd:string) AnnotationAssertion( "MESH:C537901"^^xsd:string) AnnotationAssertion( "BAMLAZ"^^xsd:string) AnnotationAssertion( "Bamforth syndrome"^^xsd:string) AnnotationAssertion( "Hypothyroidism cleft palate"^^xsd:string) AnnotationAssertion( "athyroidal hypothyroidism with spiky hair and cleft palate"^^xsd:string) AnnotationAssertion( "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate"^^xsd:string) AnnotationAssertion( "thyroidal hypothyroidism with spiky hair and cleft palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050655"^^xsd:string) AnnotationAssertion(rdfs:label "Bamforth-Lazarus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pseudo-TORCH syndrome 1) AnnotationAssertion(Annotation( "PMID:20727516"^^xsd:string) "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537905"^^xsd:string) AnnotationAssertion( "GARD:12426"^^xsd:string) AnnotationAssertion( "MIM:251290"^^xsd:string) AnnotationAssertion( "ORDO:1229"^^xsd:string) AnnotationAssertion( "BLC-PMG"^^xsd:string) AnnotationAssertion( "BLCPMG"^^xsd:string) AnnotationAssertion( "Baraitser-Brett-Piesowicz syndrome"^^xsd:string) AnnotationAssertion( "Baraitser-Reardon syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly intracranial calcification"^^xsd:string) AnnotationAssertion( "PTORCH1"^^xsd:string) AnnotationAssertion( "band-like calcification with simplified gyration and polymicrogyria"^^xsd:string) AnnotationAssertion( "bilateral band-like calcification with polymicrogyria"^^xsd:string) AnnotationAssertion( "microcephaly-intracranial calcification-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050656"^^xsd:string) AnnotationAssertion(rdfs:label "pseudo-TORCH syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bannayan-Riley-Ruvalcaba syndrome) AnnotationAssertion(Annotation( "PMID:31062505"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1488/"^^xsd:string) "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5887"^^xsd:string) AnnotationAssertion( "MIM:158350"^^xsd:string) AnnotationAssertion( "NCI:C3939"^^xsd:string) AnnotationAssertion( "ORDO:109"^^xsd:string) AnnotationAssertion( "BRRS"^^xsd:string) AnnotationAssertion( "BZS"^^xsd:string) AnnotationAssertion( "Bannayan-Zonana syndrome"^^xsd:string) AnnotationAssertion( "CWS1"^^xsd:string) AnnotationAssertion( "Cowden syndrome 1"^^xsd:string) AnnotationAssertion( "RMSS"^^xsd:string) AnnotationAssertion( "Riley-Smith syndrome"^^xsd:string) AnnotationAssertion( "Ruvalcaba Myhre Smith syndrome"^^xsd:string) AnnotationAssertion( "macrocephaly, multiple lipomas and hemangiomata"^^xsd:string) AnnotationAssertion( "macrocephaly, pseudopapilledema and multiple hemangiomas"^^xsd:string) AnnotationAssertion( "macrocephaly, pseudopapilledema, and multiple hemangiomata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050657"^^xsd:string) AnnotationAssertion(rdfs:label "Bannayan-Riley-Ruvalcaba syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bart-Pumphrey syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome"^^xsd:string) "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:149200"^^xsd:string) AnnotationAssertion( "MESH:C537210"^^xsd:string) AnnotationAssertion( "BAPS"^^xsd:string) AnnotationAssertion( "knuckle pads, leukonychia, and sensorineural deafness"^^xsd:string) AnnotationAssertion( "knuckle pads, leukonychia, deafness, and keratosis palmoplantaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050658"^^xsd:string) AnnotationAssertion(rdfs:label "Bart-Pumphrey syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (biotin-responsive basal ganglia disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK169615/"^^xsd:string) "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537658"^^xsd:string) AnnotationAssertion( "MIM:607483"^^xsd:string) AnnotationAssertion( "MONDO:0011841"^^xsd:string) AnnotationAssertion( "NCI:C212885"^^xsd:string) AnnotationAssertion( "BBGD"^^xsd:string) AnnotationAssertion( "BBTGD"^^xsd:string) AnnotationAssertion( "BTBGD"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, THIAMINE-RESPONSIVE"^^xsd:string) AnnotationAssertion( "THMD2"^^xsd:string) AnnotationAssertion( "biotin ganglia disease, biotin-thiamine responsive"^^xsd:string) AnnotationAssertion( "biotin-thiamine-responsive basal ganglia disease"^^xsd:string) AnnotationAssertion( "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050659"^^xsd:string) AnnotationAssertion(rdfs:label "biotin-responsive basal ganglia disease"^^xsd:string) SubClassOf( ) # Class: (Beare-Stevenson cutis gyrata syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome"^^xsd:string) "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123790"^^xsd:string) AnnotationAssertion( "GARD:332"^^xsd:string) AnnotationAssertion( "MESH:C565129"^^xsd:string) AnnotationAssertion( "NCI:C123813"^^xsd:string) AnnotationAssertion( "BSTVS"^^xsd:string) AnnotationAssertion( "Beare-Stevenson syndrome"^^xsd:string) AnnotationAssertion( "cutis gyrata syndrome of Beare and Stevenson"^^xsd:string) AnnotationAssertion( "cutis gyrata syndrome of Beare-Stevenson"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050660"^^xsd:string) AnnotationAssertion(rdfs:label "Beare-Stevenson cutis gyrata syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitelliform macular dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy"^^xsd:string) "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10120"^^xsd:string) AnnotationAssertion( "MESH:D057826"^^xsd:string) AnnotationAssertion( "MIM:PS153840"^^xsd:string) AnnotationAssertion( "NCI:C118788"^^xsd:string) AnnotationAssertion( "ORDO:1243"^^xsd:string) AnnotationAssertion( "ORDO:99000"^^xsd:string) AnnotationAssertion( "vitelliform dystrophy"^^xsd:string) AnnotationAssertion( "vitelliform macular dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050661"^^xsd:string) AnnotationAssertion(rdfs:label "vitelliform macular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bestrophinopathy) AnnotationAssertion(Annotation( "MIM:611809"^^xsd:string) Annotation( "PMID:24859690"^^xsd:string) Annotation( "PMID:25545482"^^xsd:string) "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10301"^^xsd:string) AnnotationAssertion( "MESH:C567518"^^xsd:string) AnnotationAssertion( "MIM:611809"^^xsd:string) AnnotationAssertion( "MONDO:0012733"^^xsd:string) AnnotationAssertion( "OMIA:001444"^^xsd:string) AnnotationAssertion( "OMIA:001553"^^xsd:string) AnnotationAssertion( "OMIA:001554"^^xsd:string) AnnotationAssertion( "ORDO:139455"^^xsd:string) AnnotationAssertion( "ARB"^^xsd:string) AnnotationAssertion( "autosomal recessive bestrophinopathy"^^xsd:string) AnnotationAssertion( "Multifocal retinopathy 1"^^xsd:string) AnnotationAssertion( "Multifocal retinopathy 2"^^xsd:string) AnnotationAssertion( "Multifocal retinopathy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050662"^^xsd:string) AnnotationAssertion(rdfs:label "bestrophinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bethlem myopathy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy"^^xsd:string) "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:873"^^xsd:string) AnnotationAssertion( "MESH:C535436"^^xsd:string) AnnotationAssertion( "MIM:PS158810"^^xsd:string) AnnotationAssertion( "Benign Congenital Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Benign Congenital Myopathy with Contractures"^^xsd:string) AnnotationAssertion( "BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050663"^^xsd:string) AnnotationAssertion(rdfs:label "Bethlem myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bietti crystalline corneoretinal dystrophy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy"^^xsd:string) "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210370"^^xsd:string) AnnotationAssertion( "GARD:10050"^^xsd:string) AnnotationAssertion( "MESH:C535440"^^xsd:string) AnnotationAssertion( "NCI:C179299"^^xsd:string) AnnotationAssertion( "BCD"^^xsd:string) AnnotationAssertion( "Bietti Crystalline Dystrophy"^^xsd:string) AnnotationAssertion( "Bietti Crystalline Retinopathy"^^xsd:string) AnnotationAssertion( "Bietti tapetoretinal degeneration with marginal corneal dystrophy"^^xsd:string) AnnotationAssertion( "Bietti's crystalline corneoretinal dystrophy"^^xsd:string) AnnotationAssertion( "Bietti's crystalline dystrophy"^^xsd:string) AnnotationAssertion( "CYP4V2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CYP4V2-related disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050664"^^xsd:string) AnnotationAssertion(rdfs:label "Bietti crystalline corneoretinal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fetal alcohol syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q86.0"^^xsd:string) AnnotationAssertion( "MONDO:0016011"^^xsd:string) AnnotationAssertion( "NCI:C84713"^^xsd:string) AnnotationAssertion( "ORDO:1915"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050665"^^xsd:string) AnnotationAssertion(rdfs:label "fetal alcohol syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (partial fetal alcohol syndrome) AnnotationAssertion(Annotation( "http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string) "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050666"^^xsd:string) AnnotationAssertion(rdfs:label "partial fetal alcohol syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alcohol-related neurodevelopmental disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string) "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ARND"^^xsd:string) AnnotationAssertion( "static encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050667"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol-related neurodevelopmental disorder"^^xsd:string) SubClassOf( ) # Class: (alcohol-related birth defects) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C576203"^^xsd:string) AnnotationAssertion( "ARBD"^^xsd:string) AnnotationAssertion( "alcohol fetopathy"^^xsd:string) AnnotationAssertion( "alcohol-related birth defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050668"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol-related birth defects"^^xsd:string) SubClassOf( ) # Class: (spastic cerebral palsy) AnnotationAssertion(Annotation( "http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html"^^xsd:string) "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "spastic cerebral palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050669"^^xsd:string) AnnotationAssertion(rdfs:label "spastic cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (ataxic cerebral palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string) Annotation( "http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html"^^xsd:string) "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10451"^^xsd:string) AnnotationAssertion( "MESH:C562856"^^xsd:string) AnnotationAssertion( "MIM:605388"^^xsd:string) AnnotationAssertion( "MONDO:0000397"^^xsd:string) AnnotationAssertion( "ACP"^^xsd:string) AnnotationAssertion( "ataxic cerebral palsy, autosomal recessive"^^xsd:string) AnnotationAssertion( "hypotonic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050670"^^xsd:string) AnnotationAssertion(rdfs:label "ataxic cerebral palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (female breast cancer) AnnotationAssertion(Annotation( "PMID:24703317"^^xsd:string) Annotation( "PMID:25002350"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string) "A breast cancer that develops from breast tissue in females. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050671"^^xsd:string) AnnotationAssertion(rdfs:label "female breast cancer"^^xsd:string) SubClassOf( ) # Class: (dyskinetic cerebral palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string) "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0022697"^^xsd:string) AnnotationAssertion( "athetoid dyskinetic cerebral palsy"^^xsd:string) AnnotationAssertion( "dyskinetic cerebral palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050672"^^xsd:string) AnnotationAssertion(rdfs:label "dyskinetic cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (mixed cerebral palsy) AnnotationAssertion(Annotation( "http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy"^^xsd:string) Annotation( "http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html"^^xsd:string) "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "mixed cerebral palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050673"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect) AnnotationAssertion(Annotation( "PMID:12543708"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/"^^xsd:string) "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009039"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.8"^^xsd:string) AnnotationAssertion( "MIM:PS607765"^^xsd:string) AnnotationAssertion( "ORDO:485631"^^xsd:string) AnnotationAssertion( "CBA"^^xsd:string) AnnotationAssertion( "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050674"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Birk-Barel syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy"^^xsd:string) "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612292"^^xsd:string) AnnotationAssertion( "GARD:10358"^^xsd:string) AnnotationAssertion( "MESH:C567357"^^xsd:string) AnnotationAssertion( "BIBARS"^^xsd:string) AnnotationAssertion( "Birk-Barel intellectual disability dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "Birk-Barel mental retardation dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "KCNK9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "mental retardation with hypotonia and facial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050675"^^xsd:string) AnnotationAssertion(rdfs:label "Birk-Barel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Birt-Hogg-Dube syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/"^^xsd:string) "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0700020"^^xsd:string) AnnotationAssertion( "EFO:1001273"^^xsd:string) AnnotationAssertion( "GARD:2322"^^xsd:string) AnnotationAssertion( "MESH:D058249"^^xsd:string) AnnotationAssertion( "MIM:135150"^^xsd:string) AnnotationAssertion( "MIM:620459"^^xsd:string) AnnotationAssertion( "MONDO:0007607"^^xsd:string) AnnotationAssertion( "MONDO:0800444"^^xsd:string) AnnotationAssertion( "NCI:C28244"^^xsd:string) AnnotationAssertion( "OMIA:001335"^^xsd:string) AnnotationAssertion( "ORDO:122"^^xsd:string) AnnotationAssertion( "BHD"^^xsd:string) AnnotationAssertion( "Birt-Hogg-Dubé syndrome"^^xsd:string) AnnotationAssertion( "Hornstein-Birt-Hogg-Dubé syndrome"^^xsd:string) AnnotationAssertion( "Hornstein-Knickenberg syndrome"^^xsd:string) AnnotationAssertion( "fibrofolliculomas with trichodiscomas and acrochordons"^^xsd:string) AnnotationAssertion( "renal cystadenocarcinoma and nodular dermatofibrosis"^^xsd:string) AnnotationAssertion( "BHD1"^^xsd:string) AnnotationAssertion( "BHD2"^^xsd:string) AnnotationAssertion( "Birt-Hogg-Dube syndrome 1"^^xsd:string) AnnotationAssertion( "Birt-Hogg-Dube syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050676"^^xsd:string) AnnotationAssertion(rdfs:label "Birt-Hogg-Dube syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bjornstad syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/"^^xsd:string) "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262000"^^xsd:string) AnnotationAssertion( "BCS1L-related disorder"^^xsd:string) AnnotationAssertion( "GARD:22"^^xsd:string) AnnotationAssertion( "MESH:C537633"^^xsd:string) AnnotationAssertion( "ORDO:123"^^xsd:string) AnnotationAssertion( "BJS"^^xsd:string) AnnotationAssertion( "PTD"^^xsd:string) AnnotationAssertion( "deafness and pili torti, Bjornstad type"^^xsd:string) AnnotationAssertion( "deafness-pili torti-hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "pili torti and nerve deafness"^^xsd:string) AnnotationAssertion( "pili torti-deafness syndrome"^^xsd:string) AnnotationAssertion( "pili torti-sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050677"^^xsd:string) AnnotationAssertion(rdfs:label "Bjornstad syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blau syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blau_syndrome"^^xsd:string) Annotation( "http://www.omim.org/entry/186580?search=186580&highlight=186580"^^xsd:string) "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:186580"^^xsd:string) AnnotationAssertion( "GARD:304"^^xsd:string) AnnotationAssertion( "MESH:C538157"^^xsd:string) AnnotationAssertion( "NCI:C116794"^^xsd:string) AnnotationAssertion( "ACUG"^^xsd:string) AnnotationAssertion( "BLAUS"^^xsd:string) AnnotationAssertion( "Familial Juvenile Systemic Granulomatosis"^^xsd:string) AnnotationAssertion( "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial"^^xsd:string) AnnotationAssertion( "Jabs syndrome"^^xsd:string) AnnotationAssertion( "arthrocutaneouveal granulomatosis"^^xsd:string) AnnotationAssertion( "familial granulomatosis, Blau type"^^xsd:string) AnnotationAssertion( "pediatric granulomatous arthritis"^^xsd:string) AnnotationAssertion( "synovitis granulomatous with uveitis and cranial neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050678"^^xsd:string) AnnotationAssertion(rdfs:label "Blau syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blue cone monochromacy) AnnotationAssertion(Annotation( "MIM:303700"^^xsd:string) Annotation( "ORDO:16"^^xsd:string) "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO)"^^xsd:string) AnnotationAssertion( "GARD:917"^^xsd:string) AnnotationAssertion( "MESH:C536238"^^xsd:string) AnnotationAssertion( "MIM:303700"^^xsd:string) AnnotationAssertion( "MONDO:0010563"^^xsd:string) AnnotationAssertion( "ORDO:16"^^xsd:string) AnnotationAssertion( "BCM"^^xsd:string) AnnotationAssertion( "blue cone monochromatism"^^xsd:string) AnnotationAssertion( "color blindness blue mono cone monochromatic type"^^xsd:string) AnnotationAssertion( "CBBM CONE DYSTROPHY 5, X-LINKED"^^xsd:string) AnnotationAssertion( "COD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cone dystrophy 5, X-linked"^^xsd:string) AnnotationAssertion( "DOID:0050679"^^xsd:string) AnnotationAssertion(rdfs:label "blue cone monochromacy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Boomerang dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112310"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorder"^^xsd:string) AnnotationAssertion( "GARD:933"^^xsd:string) AnnotationAssertion( "MESH:C536573"^^xsd:string) AnnotationAssertion( "Boomerang-like skeletal dysplasia"^^xsd:string) AnnotationAssertion( "Dwarfism with short, bowed, rigid limbs and characteristic facies"^^xsd:string) AnnotationAssertion( "Piepkorn dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050680"^^xsd:string) AnnotationAssertion(rdfs:label "Boomerang dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Borjeson-Forssman-Lehmann syndrome) AnnotationAssertion(Annotation( "http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html"^^xsd:string) "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:936"^^xsd:string) AnnotationAssertion( "MESH:C536575"^^xsd:string) AnnotationAssertion( "MIM:301900"^^xsd:string) AnnotationAssertion( "MONDO:0010537"^^xsd:string) AnnotationAssertion( "NCI:C157122"^^xsd:string) AnnotationAssertion( "ORDO:127"^^xsd:string) AnnotationAssertion( "BFLS"^^xsd:string) AnnotationAssertion( "BORJ"^^xsd:string) AnnotationAssertion( "Borjeson syndrome"^^xsd:string) AnnotationAssertion( "MRXSBFL"^^xsd:string) AnnotationAssertion( "PHF6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "intellectual deficiency-epilepsy-endocrine disorders syndrome"^^xsd:string) AnnotationAssertion( "mental deficiency, epilepsy and endocrine disorders"^^xsd:string) AnnotationAssertion( "mental retardation, epilepsy, and endocrine disorder"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050681"^^xsd:string) AnnotationAssertion(rdfs:label "Borjeson-Forssman-Lehmann syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Athabaskan brainstem dysgenesis syndrome) AnnotationAssertion(Annotation( "MIM:601536"^^xsd:string) Annotation( "PMID:18412118"^^xsd:string) "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601536"^^xsd:string) AnnotationAssertion( "MESH:C535397"^^xsd:string) AnnotationAssertion( "ORDO:69739"^^xsd:string) AnnotationAssertion( "ABDS"^^xsd:string) AnnotationAssertion( "Athabaskan brainstem dysgenesis"^^xsd:string) AnnotationAssertion( "HOXA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Navajo brainstem syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BSAS"^^xsd:string) AnnotationAssertion( "Bosley-Salih-Alorainy syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050682"^^xsd:string) AnnotationAssertion(rdfs:label "Athabaskan brainstem dysgenesis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bothnia retinal dystrophy) AnnotationAssertion(Annotation( "MIM:607475"^^xsd:string) Annotation( "PMID:11176989"^^xsd:string) "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564392"^^xsd:string) AnnotationAssertion( "MIM:607475"^^xsd:string) AnnotationAssertion( "MONDO:0011838"^^xsd:string) AnnotationAssertion( "Vasterbotten dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050683"^^xsd:string) AnnotationAssertion(rdfs:label "Bothnia retinal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bowen-Conradi syndrome) AnnotationAssertion(Annotation( "MIM:211180"^^xsd:string) Annotation( "PMID:19463982"^^xsd:string) "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211180"^^xsd:string) AnnotationAssertion( "GARD:5950"^^xsd:string) AnnotationAssertion( "MESH:C537081"^^xsd:string) AnnotationAssertion( "ORDO:1270"^^xsd:string) AnnotationAssertion( "BWCNS"^^xsd:string) AnnotationAssertion( "Bowen Hutterite syndrome"^^xsd:string) AnnotationAssertion( "Bowen-Conradi Hutterite syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050684"^^xsd:string) AnnotationAssertion(rdfs:label "Bowen-Conradi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (small cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Small_cell_carcinoma"^^xsd:string) "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008524"^^xsd:string) AnnotationAssertion( "EFO:1000519"^^xsd:string) AnnotationAssertion( "ICDO:8041/3"^^xsd:string) AnnotationAssertion( "MESH:D018288"^^xsd:string) AnnotationAssertion( "MIM:182280"^^xsd:string) AnnotationAssertion( "MONDO:0000402"^^xsd:string) AnnotationAssertion( "NCI:C4099"^^xsd:string) AnnotationAssertion( "SCCL"^^xsd:string) AnnotationAssertion( "SCLC"^^xsd:string) AnnotationAssertion( "SCLC1"^^xsd:string) AnnotationAssertion( "oat cell carcinoma"^^xsd:string) AnnotationAssertion( "oat cell carcinomas"^^xsd:string) AnnotationAssertion( "small cell carcinomas"^^xsd:string) AnnotationAssertion( "Salivary Gland Small Cell Carcinoma"^^xsd:string) AnnotationAssertion( "small cell carcinoma, intermediate cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050685"^^xsd:string) AnnotationAssertion(rdfs:label "small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (organ system cancer) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/by-body-location"^^xsd:string) "A cancer that is classified based on the organ it starts in. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050686"^^xsd:string) AnnotationAssertion(rdfs:label "organ system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cell type cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cancer"^^xsd:string) "A cancer that is classified by the type of cell from which it is derived. (DO)"^^xsd:string) AnnotationAssertion( "cancer by histologic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050687"^^xsd:string) AnnotationAssertion(rdfs:label "cell type cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal canal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anal_canal"^^xsd:string) "A large intestine cancer that is located_in the terminal part of the large intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050688"^^xsd:string) AnnotationAssertion(rdfs:label "anal canal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly-syndactyly syndrome) AnnotationAssertion(Annotation( "MIM:610713"^^xsd:string) Annotation( "PMID:17236141"^^xsd:string) "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610713"^^xsd:string) AnnotationAssertion( "MESH:C565193"^^xsd:string) AnnotationAssertion( "BDSD"^^xsd:string) AnnotationAssertion( "BDSDO"^^xsd:string) AnnotationAssertion( "brachydactyly-syndactyly-oligodactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050689"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly-syndactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brachyolmia) AnnotationAssertion(Annotation( "PMID:10968486"^^xsd:string) "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008880"^^xsd:string) AnnotationAssertion( "GARD:10903"^^xsd:string) AnnotationAssertion( "MESH:C537098"^^xsd:string) AnnotationAssertion( "ORDO:1293"^^xsd:string) AnnotationAssertion( "brachyrachia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050690"^^xsd:string) AnnotationAssertion(rdfs:label "brachyolmia"^^xsd:string) SubClassOf( ) # Class: (branchiooculofacial syndrome) AnnotationAssertion(Annotation( "ORDO:1297"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK55063/"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract"^^xsd:string) "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3212"^^xsd:string) AnnotationAssertion( "MIM:113620"^^xsd:string) AnnotationAssertion( "BOF syndrome"^^xsd:string) AnnotationAssertion( "BOFS"^^xsd:string) AnnotationAssertion( "TFAP2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging"^^xsd:string) AnnotationAssertion( "branchio oculo facial syndrome"^^xsd:string) AnnotationAssertion( "hemangiomatous branchial clefts lip pseudocleft syndrome"^^xsd:string) AnnotationAssertion( "lip pseudocleft hemangiomatous branchial cyst syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050691"^^xsd:string) AnnotationAssertion(rdfs:label "branchiooculofacial syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brody myopathy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/brody-myopathy"^^xsd:string) "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9158"^^xsd:string) AnnotationAssertion( "MESH:C536607"^^xsd:string) AnnotationAssertion( "MIM:601003"^^xsd:string) AnnotationAssertion( "MONDO:0010977"^^xsd:string) AnnotationAssertion( "Brody disease"^^xsd:string) AnnotationAssertion( "autosomal recessive Brody myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050692"^^xsd:string) AnnotationAssertion(rdfs:label "Brody myopathy"^^xsd:string) SubClassOf( ) # Class: (Brooke-Spiegler syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome"^^xsd:string) "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10179"^^xsd:string) AnnotationAssertion( "MESH:C536611"^^xsd:string) AnnotationAssertion( "MIM:132700"^^xsd:string) AnnotationAssertion( "MIM:601606"^^xsd:string) AnnotationAssertion( "MIM:605041"^^xsd:string) AnnotationAssertion( "MONDO:0007565"^^xsd:string) AnnotationAssertion( "ORDO:79493"^^xsd:string) AnnotationAssertion( "Ancell-Spiegler cylindromas"^^xsd:string) AnnotationAssertion( "BRSS"^^xsd:string) AnnotationAssertion( "BSS"^^xsd:string) AnnotationAssertion( "Brooke-Fordyce trichoepitheliomas"^^xsd:string) AnnotationAssertion( "CYLD cutaneous syndrome"^^xsd:string) AnnotationAssertion( "EAC"^^xsd:string) AnnotationAssertion( "FAMILIAL MULTIPLE TRICHOEPITHELIOMATA"^^xsd:string) AnnotationAssertion( "MFT1"^^xsd:string) AnnotationAssertion( "SBS"^^xsd:string) AnnotationAssertion( "Turban tumor syndrome"^^xsd:string) AnnotationAssertion( "Turban tumors"^^xsd:string) AnnotationAssertion( "dermal eccrine cylindroma"^^xsd:string) AnnotationAssertion( "dermal eccrine cylindromas"^^xsd:string) AnnotationAssertion( "epithelioma adenoides cysticum of Brooke"^^xsd:string) AnnotationAssertion( "familial cylindromatosis"^^xsd:string) AnnotationAssertion( "familial trichoepithelioma"^^xsd:string) AnnotationAssertion( "hereditary multiple benign cystic epithelioma"^^xsd:string) AnnotationAssertion( "multiple familial trichoepithelioma"^^xsd:string) AnnotationAssertion( "multiple familial trichoepithelioma 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050693"^^xsd:string) AnnotationAssertion(rdfs:label "Brooke-Spiegler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brown-Vialetto-Van Laere syndrome) AnnotationAssertion(Annotation( "PMID:21110228"^^xsd:string) "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537111"^^xsd:string) AnnotationAssertion( "MIM:PS211530"^^xsd:string) AnnotationAssertion( "pontobulbar palsy and neurosensory deafness"^^xsd:string) AnnotationAssertion( "pontobulbar palsy with deafness"^^xsd:string) AnnotationAssertion( "progressive bulbar palsy with sensorineural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050694"^^xsd:string) AnnotationAssertion(rdfs:label "Brown-Vialetto-Van Laere syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant pleural solitary fibrous tumor) AnnotationAssertion(Annotation( "PMID:17075563"^^xsd:string) "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050695"^^xsd:string) AnnotationAssertion(rdfs:label "malignant pleural solitary fibrous tumor"^^xsd:string) SubClassOf( ) # Class: (fetal alcohol spectrum disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D063647"^^xsd:string) AnnotationAssertion( "MONDO:0000408"^^xsd:string) AnnotationAssertion( "FAE (Fetal Alcohol Effects)"^^xsd:string) AnnotationAssertion( "FASD"^^xsd:string) AnnotationAssertion( "Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction"^^xsd:string) AnnotationAssertion( "alcohol related birth defects"^^xsd:string) AnnotationAssertion( "fetal alcohol syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050696"^^xsd:string) AnnotationAssertion(rdfs:label "fetal alcohol spectrum disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chorioamnionitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chorioamnionitis"^^xsd:string) Annotation( "http://www.merriam-webster.com/medlineplus/Chorioamnionitis"^^xsd:string) "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009948"^^xsd:string) AnnotationAssertion( "MESH:D002821"^^xsd:string) AnnotationAssertion( "amnionitides"^^xsd:string) AnnotationAssertion( "amnionitis"^^xsd:string) AnnotationAssertion( "chorioamnionitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050697"^^xsd:string) AnnotationAssertion(rdfs:label "chorioamnionitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (funisitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Funisitis"^^xsd:string) "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "funisitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050698"^^xsd:string) AnnotationAssertion(rdfs:label "funisitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dent disease) AnnotationAssertion(Annotation( "ORDO:1652"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Dent%27s_disease"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/dent-disease"^^xsd:string) Annotation( "https://www.dentdisease.org/"^^xsd:string) "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13105"^^xsd:string) AnnotationAssertion( "MESH:D057973"^^xsd:string) AnnotationAssertion( "MIM:PS300009"^^xsd:string) AnnotationAssertion( "NCI:C123260"^^xsd:string) AnnotationAssertion( "ORDO:1652"^^xsd:string) AnnotationAssertion( "Dent's disease"^^xsd:string) AnnotationAssertion( "Dents disease"^^xsd:string) AnnotationAssertion( "X-linked hypercalciuric nephrocalcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050699"^^xsd:string) AnnotationAssertion(rdfs:label "Dent disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cardiomyopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/cm/"^^xsd:string) "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000318"^^xsd:string) AnnotationAssertion( "EFO:0000767"^^xsd:string) AnnotationAssertion( "EFO:0002629"^^xsd:string) AnnotationAssertion( "EFO:0002945"^^xsd:string) AnnotationAssertion( "ICD10CM:I42"^^xsd:string) AnnotationAssertion( "ICD9CM:425"^^xsd:string) AnnotationAssertion( "ICD9CM:425.9"^^xsd:string) AnnotationAssertion( "MESH:D009202"^^xsd:string) AnnotationAssertion( "NCI:C34830"^^xsd:string) AnnotationAssertion( "NCI:C53654"^^xsd:string) AnnotationAssertion( "Myocardial Disease"^^xsd:string) AnnotationAssertion( "Myocardial Diseases"^^xsd:string) AnnotationAssertion( "Myocardiopathies"^^xsd:string) AnnotationAssertion( "Myocardiopathy"^^xsd:string) AnnotationAssertion( "Primary Cardiomyopathies"^^xsd:string) AnnotationAssertion( "Primary Cardiomyopathy"^^xsd:string) AnnotationAssertion( "Primary Myocardial Disease"^^xsd:string) AnnotationAssertion( "Primary Myocardial Diseases"^^xsd:string) AnnotationAssertion( "Secondary Cardiomyopathies"^^xsd:string) AnnotationAssertion( "Secondary Cardiomyopathy"^^xsd:string) AnnotationAssertion( "cardiomyopathies"^^xsd:string) AnnotationAssertion( "cardiomyopathy with or without skeletal myopathy"^^xsd:string) AnnotationAssertion( "secondary myocardial disease"^^xsd:string) AnnotationAssertion( "secondary myocardial diseases"^^xsd:string) AnnotationAssertion( "Familial Cardiomyopathy"^^xsd:string) AnnotationAssertion( "HYPOKINETIC NON-DILATED CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "PRKAG2 Cardiac Syndrome"^^xsd:string) AnnotationAssertion( "TXNRD2-ASSOCIATED CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "idiopathic cardiomyopathy"^^xsd:string) AnnotationAssertion( "viral cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "DOID:0050700"^^xsd:string) AnnotationAssertion(rdfs:label "cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (electroclinical syndrome) AnnotationAssertion(Annotation( "PMID:20196795"^^xsd:string) Annotation( "http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/"^^xsd:string) "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "electro-clinical syndrome"^^xsd:string) AnnotationAssertion( "TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050701"^^xsd:string) AnnotationAssertion(rdfs:label "electroclinical syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neonatal period electroclinical syndrome) AnnotationAssertion(Annotation( "PMID:20196795"^^xsd:string) Annotation( "PMID:22182677"^^xsd:string) "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050702"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal period electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (infancy electroclinical syndrome) AnnotationAssertion(Annotation( "PMID:20196795"^^xsd:string) "An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050703"^^xsd:string) AnnotationAssertion(rdfs:label "infancy electroclinical syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood electroclinical syndrome) AnnotationAssertion(Annotation( "PMID:20196795"^^xsd:string) "An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002706"^^xsd:string) AnnotationAssertion( "RDO:9002463"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050704"^^xsd:string) AnnotationAssertion(rdfs:label "childhood electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (adolescence-adult electroclinical syndrome) AnnotationAssertion(Annotation( "PMID:20196795"^^xsd:string) "An electroclinical syndrome with onset in adolescence and adulthood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002464"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050705"^^xsd:string) AnnotationAssertion(rdfs:label "adolescence-adult electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (variable age at onset electroclinical syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/"^^xsd:string) "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002465"^^xsd:string) AnnotationAssertion( "RDO:9002709"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050706"^^xsd:string) AnnotationAssertion(rdfs:label "variable age at onset electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (early onset absence epilepsy) AnnotationAssertion(Annotation( "PMID:24099057"^^xsd:string) "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050708"^^xsd:string) AnnotationAssertion(rdfs:label "early onset absence epilepsy"^^xsd:string) SubClassOf( ) # Class: (early infantile epileptic encephalopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ohtahara_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm"^^xsd:string) "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:2481"^^xsd:string) AnnotationAssertion( "EFO:1000643"^^xsd:string) AnnotationAssertion( "GARD:9255"^^xsd:string) AnnotationAssertion( "NCI:C122814"^^xsd:string) AnnotationAssertion( "ORDO:1934"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy with burst-suppression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050709"^^xsd:string) AnnotationAssertion(rdfs:label "early infantile epileptic encephalopathy"^^xsd:string) SubClassOf( ) # Class: (3-methylcrotonyl-CoA carboxylase deficiency) AnnotationAssertion(Annotation( "MIM:210200"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency"^^xsd:string) "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10954"^^xsd:string) AnnotationAssertion( "MIM:PS210200"^^xsd:string) AnnotationAssertion( "NCI:C98674"^^xsd:string) AnnotationAssertion( "ORDO:6"^^xsd:string) AnnotationAssertion( "3-MCC deficiency"^^xsd:string) AnnotationAssertion( "3-Methylcrotonylglycinuria"^^xsd:string) AnnotationAssertion( "3-methylcrotonyl-Coenzyme A carboxylase deficiency"^^xsd:string) AnnotationAssertion( "3MCC deficiency"^^xsd:string) AnnotationAssertion( "BMCC deficiency"^^xsd:string) AnnotationAssertion( "Deficiency of Methylcrotonoyl-Coa Carboxylase"^^xsd:string) AnnotationAssertion( "MCC deficiency"^^xsd:string) AnnotationAssertion( "methylcrotonyl-Coa carboxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050710"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylcrotonyl-CoA carboxylase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aceruloplasminemia) AnnotationAssertion(Annotation( "MIM:604290"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Aceruloplasminemia"^^xsd:string) "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9499"^^xsd:string) AnnotationAssertion( "MESH:C536004"^^xsd:string) AnnotationAssertion( "MIM:604290"^^xsd:string) AnnotationAssertion( "NCI:C189281"^^xsd:string) AnnotationAssertion( "CP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF FERROXIDASE"^^xsd:string) AnnotationAssertion( "NBIA10"^^xsd:string) AnnotationAssertion( "familial apoceruloplasmin deficiency"^^xsd:string) AnnotationAssertion( "hereditary hypoceruloplasminemia"^^xsd:string) AnnotationAssertion( "neurodegeneration with brain iron accumulation-10"^^xsd:string) AnnotationAssertion( "CERULOPLASMIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "hypoceruloplasminemia"^^xsd:string) AnnotationAssertion( "systemic hemosiderosis due to aceruloplasminemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050711"^^xsd:string) AnnotationAssertion(rdfs:label "aceruloplasminemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AGAT deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency"^^xsd:string) "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612718"^^xsd:string) AnnotationAssertion( "GATM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567192"^^xsd:string) AnnotationAssertion( "NCI:C198575"^^xsd:string) AnnotationAssertion( "CCDS3"^^xsd:string) AnnotationAssertion( "GATM deficiency"^^xsd:string) AnnotationAssertion( "L-Arginine:Glycine Aminidotransferase Deficiency"^^xsd:string) AnnotationAssertion( "arginine:glycine amidinotransferase deficiency"^^xsd:string) AnnotationAssertion( "cerebral creatine deficiency syndrome 3"^^xsd:string) AnnotationAssertion( "creatine deficiency syndrome due to AGAT deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050712"^^xsd:string) AnnotationAssertion(rdfs:label "AGAT deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (COX deficiency, infantile mitochondrial myopathy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/"^^xsd:string) "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:1561"^^xsd:string) AnnotationAssertion( "fatal infantile COX deficiency"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"^^xsd:string) AnnotationAssertion( "fatal infantile cytochrome C oxidase deficiency"^^xsd:string) AnnotationAssertion( "fatal infantile encephalocardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050713"^^xsd:string) AnnotationAssertion(rdfs:label "COX deficiency, infantile mitochondrial myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblC) AnnotationAssertion(Annotation( "MIM:277400"^^xsd:string) "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277400"^^xsd:string) AnnotationAssertion( "MESH:C537359"^^xsd:string) AnnotationAssertion( "NCI:C142174"^^xsd:string) AnnotationAssertion( "Cobalamin C deficiency"^^xsd:string) AnnotationAssertion( "MAHCC"^^xsd:string) AnnotationAssertion( "PRDX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cobalamin-C methylmalonic acidemia and homocystinuria"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia and homocystinuria, cblC type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria and homocystinuria, vitamin B12-responsive"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, cblC type"^^xsd:string) AnnotationAssertion( "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase"^^xsd:string) AnnotationAssertion( "methylmalonic Acidemia with Homocystinuria"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia and homocystinemia"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, cblC type, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050715"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblC"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblD) AnnotationAssertion(Annotation( "MIM:277410"^^xsd:string) Annotation( "PMID:18385497"^^xsd:string) "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564743"^^xsd:string) AnnotationAssertion( "MIM:277410"^^xsd:string) AnnotationAssertion( "MONDO:0010185"^^xsd:string) AnnotationAssertion( "NCI:C183524"^^xsd:string) AnnotationAssertion( "Cobalamin D deficiency"^^xsd:string) AnnotationAssertion( "MAHCD"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD"^^xsd:string) AnnotationAssertion( "Methylmalonic Acidemia and Homocystinuria, CblD Type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, cblD type"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA, cblD TYPE, VARIANT 1"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDEMIA, cblH TYPE"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, cblD type, variant 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050716"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblD"^^xsd:string) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblF) AnnotationAssertion(Annotation( "PMID:21910240"^^xsd:string) "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277380"^^xsd:string) AnnotationAssertion( "MESH:C564747"^^xsd:string) AnnotationAssertion( "NCI:C183525"^^xsd:string) AnnotationAssertion( "Cobalamin F deficiency"^^xsd:string) AnnotationAssertion( "MAHCF"^^xsd:string) AnnotationAssertion( "Methylmalonic Acidemia and Homocystinuria, CblF Type"^^xsd:string) AnnotationAssertion( "Methylmalonic Aciduria due to Vitamin B12-Release Defect"^^xsd:string) AnnotationAssertion( "Vitamin B12 Lysosomal Release Defect"^^xsd:string) AnnotationAssertion( "cblF"^^xsd:string) AnnotationAssertion( "cobalamin F disease"^^xsd:string) AnnotationAssertion( "defect in lysosomal release of cobalamin"^^xsd:string) AnnotationAssertion( "vitamin B12 storage disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050717"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblF"^^xsd:string) SubClassOf( ) # Class: (vitamin metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_error_of_metabolism"^^xsd:string) "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005596"^^xsd:string) AnnotationAssertion( "RDO:9003867"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050718"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (cerebral folate receptor alpha deficiency) AnnotationAssertion(Annotation( "PMID:19732866"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/B_vitamins"^^xsd:string) "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613068"^^xsd:string) AnnotationAssertion( "MESH:C567791"^^xsd:string) AnnotationAssertion( "NCFTD"^^xsd:string) AnnotationAssertion( "cerebral folate deficiency"^^xsd:string) AnnotationAssertion( "neurodegeneration due to cerebral folate transport deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050719"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral folate receptor alpha deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ornithine translocase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency"^^xsd:string) "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2830"^^xsd:string) AnnotationAssertion( "MESH:C538380"^^xsd:string) AnnotationAssertion( "MIM:238970"^^xsd:string) AnnotationAssertion( "MONDO:0009393"^^xsd:string) AnnotationAssertion( "NCI:C129029"^^xsd:string) AnnotationAssertion( "HHH"^^xsd:string) AnnotationAssertion( "HHH syndrome"^^xsd:string) AnnotationAssertion( "HHHS"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinuria"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"^^xsd:string) AnnotationAssertion( "triple H syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050720"^^xsd:string) AnnotationAssertion(rdfs:label "ornithine translocase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (serine deficiency) AnnotationAssertion(Annotation( "PMID:15021249"^^xsd:string) "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS256520"^^xsd:string) AnnotationAssertion( "RDO:9004040"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050721"^^xsd:string) AnnotationAssertion(rdfs:label "serine deficiency"^^xsd:string) SubClassOf( ) # Class: (PHGDH deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pubmed?term=18296366"^^xsd:string) Annotation( "http://www.omim.org/entry/601815"^^xsd:string) "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601815"^^xsd:string) AnnotationAssertion( "RDO:0014928"^^xsd:string) AnnotationAssertion( "MESH:C566618"^^xsd:string) AnnotationAssertion( "PHGDHD"^^xsd:string) AnnotationAssertion( "phosphoglycerate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050722"^^xsd:string) AnnotationAssertion(rdfs:label "PHGDH deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PSAT deficiency) AnnotationAssertion(Annotation( "ORDO:284417"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/"^^xsd:string) Annotation( "http://www.omim.org/entry/610992?search=610992&highlight=610992"^^xsd:string) "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610992"^^xsd:string) AnnotationAssertion( "PSAT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PSAT1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C567032"^^xsd:string) AnnotationAssertion( "PSATD"^^xsd:string) AnnotationAssertion( "Phosphoserine Aminotransferase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050723"^^xsd:string) AnnotationAssertion(rdfs:label "PSAT deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PSPH deficiency) AnnotationAssertion(Annotation( "ORDO:79350"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/PSPH"^^xsd:string) Annotation( "http://www.omim.org/entry/614023"^^xsd:string) "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614023"^^xsd:string) AnnotationAssertion( "PSPHD"^^xsd:string) AnnotationAssertion( "phosphoserine phosphatase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050724"^^xsd:string) AnnotationAssertion(rdfs:label "PSPH deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tyrosinemia type II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tyrosinemia_type_II"^^xsd:string) Annotation( "http://www.omim.org/entry/276600?search=276600&highlight=276600"^^xsd:string) "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:276600"^^xsd:string) AnnotationAssertion( "NCI:C129032"^^xsd:string) AnnotationAssertion( "ORDO:28378"^^xsd:string) AnnotationAssertion( "Richner-Hanhart syndrome"^^xsd:string) AnnotationAssertion( "Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type"^^xsd:string) AnnotationAssertion( "Richner-Hanhart syndromes"^^xsd:string) AnnotationAssertion( "TYRSN2"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemia type II"^^xsd:string) AnnotationAssertion( "oculocutaneous tyrosinemia"^^xsd:string) AnnotationAssertion( "type 2 tyrosinemia"^^xsd:string) AnnotationAssertion( "type 2 tyrosinemias"^^xsd:string) AnnotationAssertion( "type II tyrosinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050725"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia type II"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tyrosinemia type I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Type_I_tyrosinemia"^^xsd:string) "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:276700"^^xsd:string) AnnotationAssertion( "NCI:C98641"^^xsd:string) AnnotationAssertion( "TYRSN1"^^xsd:string) AnnotationAssertion( "hepatorenal tyrosinemia"^^xsd:string) AnnotationAssertion( "hepatorenal tyrosinemias"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemia, type I"^^xsd:string) AnnotationAssertion( "type I hypertyrosinemia"^^xsd:string) AnnotationAssertion( "tyrosinemia type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050726"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia type I"^^xsd:string) SubClassOf( ) # Class: (tyrosinemia type III) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Type_III_tyrosinemia"^^xsd:string) Annotation( "http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia"^^xsd:string) "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:276710"^^xsd:string) AnnotationAssertion( "4 hydroxyphenol pyruvic acid oxidase deficiency disease"^^xsd:string) AnnotationAssertion( "4 hydroxyphenylpyruvate dioxygenase deficiency disease"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvate dioxygenase deficiencies"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvate dioxygenase deficiency"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvic acid oxidase deficiency"^^xsd:string) AnnotationAssertion( "TYRSN3"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemia, type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050727"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia type III"^^xsd:string) SubClassOf( ) # Class: (glycogen metabolism disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism"^^xsd:string) "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050728"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen metabolism disorder"^^xsd:string) SubClassOf( ) # Class: (Chanarin-Dorfman syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome"^^xsd:string) "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275630"^^xsd:string) AnnotationAssertion( "GARD:3979"^^xsd:string) AnnotationAssertion( "MESH:C536560"^^xsd:string) AnnotationAssertion( "ORDO:98907"^^xsd:string) AnnotationAssertion( "ABHD5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CDS"^^xsd:string) AnnotationAssertion( "Chanarin-Dorfman disease"^^xsd:string) AnnotationAssertion( "DCS"^^xsd:string) AnnotationAssertion( "NLSDI"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma with leukocyte vacuolation"^^xsd:string) AnnotationAssertion( "ichthyotic neutral lipid storage disease"^^xsd:string) AnnotationAssertion( "neutral lipid storage disease"^^xsd:string) AnnotationAssertion( "neutral lipid storage disease with ichthyosis"^^xsd:string) AnnotationAssertion( "neutral lipid storage myopathy"^^xsd:string) AnnotationAssertion( "triglyceride storage disease with ichthyosis"^^xsd:string) AnnotationAssertion( "triglyceride storage disease with impaired long-chain fatty acid oxidation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050729"^^xsd:string) AnnotationAssertion(rdfs:label "Chanarin-Dorfman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (coenzyme Q10 deficiency disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity"^^xsd:string) "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10423"^^xsd:string) AnnotationAssertion( "MESH:C564403"^^xsd:string) AnnotationAssertion( "MIM:PS607426"^^xsd:string) AnnotationAssertion( "CoQ Deficiency"^^xsd:string) AnnotationAssertion( "coenzyme Q deficiency"^^xsd:string) AnnotationAssertion( "primary CoQ10 deficiency"^^xsd:string) AnnotationAssertion( "primary coenzyme Q10 deficiency"^^xsd:string) AnnotationAssertion( "ubiquinone deficiency"^^xsd:string) AnnotationAssertion( "COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE"^^xsd:string) AnnotationAssertion( "COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050730"^^xsd:string) AnnotationAssertion(rdfs:label "coenzyme Q10 deficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitamin B12 deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/B12_deficiency"^^xsd:string) "A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612542"^^xsd:string) AnnotationAssertion( "EFO:0000734"^^xsd:string) AnnotationAssertion( "MESH:D014806"^^xsd:string) AnnotationAssertion( "cobalamin deficiency"^^xsd:string) AnnotationAssertion( "hypocobalaminemia"^^xsd:string) AnnotationAssertion( "vitamin B12 deficiencies"^^xsd:string) AnnotationAssertion( "acquired cobalamin-deficient neuropathy"^^xsd:string) AnnotationAssertion( "vitamin B12 deficiency anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050731"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin B12 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblE) AnnotationAssertion(Annotation( "MIM:236270"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb"^^xsd:string) "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050732"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblE"^^xsd:string) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblG) AnnotationAssertion(Annotation( "MIM:250940"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf"^^xsd:string) "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005597"^^xsd:string) AnnotationAssertion( "MESH:C565394"^^xsd:string) AnnotationAssertion( "MIM:250940"^^xsd:string) AnnotationAssertion( "MONDO:0009609"^^xsd:string) AnnotationAssertion( "ORDO:2170"^^xsd:string) AnnotationAssertion( "HMAG"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE"^^xsd:string) AnnotationAssertion( "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type"^^xsd:string) AnnotationAssertion( "METHIONINE SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "methylcobalamin deficiency type CblG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050733"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblG"^^xsd:string) SubClassOf( ) # Class: (congenital intrinsic factor deficiency) AnnotationAssertion(Annotation( "MIM:261000"^^xsd:string) Annotation( "ORDO:332"^^xsd:string) Annotation( "PMID:14695536"^^xsd:string) "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261000"^^xsd:string) AnnotationAssertion( "MESH:C563242"^^xsd:string) AnnotationAssertion( "IFD"^^xsd:string) AnnotationAssertion( "congenital pernicious anemia, due to defect of intrinsic factor"^^xsd:string) AnnotationAssertion( "hereditary intrinsic factor deficiency"^^xsd:string) AnnotationAssertion( "intrinsic factor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050734"^^xsd:string) AnnotationAssertion(rdfs:label "congenital intrinsic factor deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked monogenic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) "A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D040181"^^xsd:string) AnnotationAssertion( "Genetic Diseases, X Chromosome Linked"^^xsd:string) AnnotationAssertion( "X-linked disease"^^xsd:string) AnnotationAssertion( "X-linked genetic disease"^^xsd:string) AnnotationAssertion( "X-linked inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050735"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked monogenic disease"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/glossary=autosomaldominant"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm"^^xsd:string) "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050736"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant disease"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm"^^xsd:string) "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000017"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050737"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive disease"^^xsd:string) SubClassOf( ) # Class: (Y-linked monogenic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked"^^xsd:string) "A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D050174"^^xsd:string) AnnotationAssertion( "Y chromosome linked genetic diseases"^^xsd:string) AnnotationAssertion( "Y-linked disease"^^xsd:string) AnnotationAssertion( "Y-linked genetic disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050738"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked monogenic disease"^^xsd:string) SubClassOf( ) # Class: (autosomal genetic disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/glossary=autosomaldominant"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050739"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal genetic disease"^^xsd:string) SubClassOf( ) # Class: (Qazi Markouizos syndrome) AnnotationAssertion(Annotation( "MIM:600096"^^xsd:string) Annotation( "ORDO:3010"^^xsd:string) "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600096"^^xsd:string) AnnotationAssertion( "GARD:371"^^xsd:string) AnnotationAssertion( "MESH:C536259"^^xsd:string) AnnotationAssertion( "Puerto Rican infant hypotonia syndrome"^^xsd:string) AnnotationAssertion( "Puertorican infant hypotonia syndrome"^^xsd:string) AnnotationAssertion( "dysharmonic skeletal maturation muscular fibre disproportion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050740"^^xsd:string) AnnotationAssertion(rdfs:label "Qazi Markouizos syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alcohol dependence) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Alcohol_dependence"^^xsd:string) "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "GABRA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:103780"^^xsd:string) AnnotationAssertion( "MONDO:0007079"^^xsd:string) AnnotationAssertion( "alcohol addiction"^^xsd:string) AnnotationAssertion( "alcoholism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050741"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol dependence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nicotine dependence) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nicotine_dependence"^^xsd:string) "A substance dependence that is characterized by a physical dependence on nicotine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9001310"^^xsd:string) AnnotationAssertion( "CHRNA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SLC6A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0003768"^^xsd:string) AnnotationAssertion( "ICD10CM:F17"^^xsd:string) AnnotationAssertion( "MESH:D014029"^^xsd:string) AnnotationAssertion( "MIM:188890"^^xsd:string) AnnotationAssertion( "MONDO:0008575"^^xsd:string) AnnotationAssertion( "NCI:C54203"^^xsd:string) AnnotationAssertion( "Nicotine Use Disorder"^^xsd:string) AnnotationAssertion( "Nicotine Use Disorders"^^xsd:string) AnnotationAssertion( "Tobacco Dependence"^^xsd:string) AnnotationAssertion( "Tobacco Use Disorders"^^xsd:string) AnnotationAssertion( "tobacco use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NICOTINE ADDICTION, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "NICOTINE ADDICTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "cigarette habituation, susceptibility to"^^xsd:string) AnnotationAssertion( "smoking habit, susceptibility to"^^xsd:string) AnnotationAssertion( "tobacco addiction, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050742"^^xsd:string) AnnotationAssertion(rdfs:label "nicotine dependence"^^xsd:string) SubClassOf( ) # Class: (mature T-cell and NK-cell lymphoma) AnnotationAssertion(Annotation( "PMID:21919697"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=393800"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44062"^^xsd:string) "A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NK-T cell lymphoma"^^xsd:string) AnnotationAssertion( "mature T-cell and natural killer cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050743"^^xsd:string) AnnotationAssertion(rdfs:label "mature T-cell and NK-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (anaplastic large cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology"^^xsd:string) "A non-Hodgkin lymphoma involving aberrant T-cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003032"^^xsd:string) AnnotationAssertion( "EFO:1000156"^^xsd:string) AnnotationAssertion( "ICDO:9714/3"^^xsd:string) AnnotationAssertion( "MESH:D017728"^^xsd:string) AnnotationAssertion( "NCI:C3720"^^xsd:string) AnnotationAssertion( "CD30 Positive Anaplastic Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "CD30+ Anaplastic Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Ki 1 Lymphoma"^^xsd:string) AnnotationAssertion( "Ki-1 Lymphomas"^^xsd:string) AnnotationAssertion( "Lymphoma, Large-Cell, Ki-1"^^xsd:string) AnnotationAssertion( "anaplastic large-cell lymphomas"^^xsd:string) AnnotationAssertion( "systemic anaplastic large cell lymphoma"^^xsd:string) AnnotationAssertion( "Central Nervous System Anaplastic Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050744"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic large cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "PMID:28487884"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma"^^xsd:string) Annotation( "https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392"^^xsd:string) "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000403"^^xsd:string) AnnotationAssertion( "EFO:1000144"^^xsd:string) AnnotationAssertion( "EFO:1000191"^^xsd:string) AnnotationAssertion( "EFO:1000495"^^xsd:string) AnnotationAssertion( "EFO:1000534"^^xsd:string) AnnotationAssertion( "EFO:1000547"^^xsd:string) AnnotationAssertion( "EFO:1000587"^^xsd:string) AnnotationAssertion( "GARD:3178"^^xsd:string) AnnotationAssertion( "ICD11:2A81.Z"^^xsd:string) AnnotationAssertion( "ICDO:9680/3"^^xsd:string) AnnotationAssertion( "MESH:D016403"^^xsd:string) AnnotationAssertion( "NCI:C45605"^^xsd:string) AnnotationAssertion( "NCI:C80280"^^xsd:string) AnnotationAssertion( "NCI:C8851"^^xsd:string) AnnotationAssertion( "DLBCL"^^xsd:string) AnnotationAssertion( "diffuse histiocytic lymphoma"^^xsd:string) AnnotationAssertion( "diffuse histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "diffuse large cell lymphoma"^^xsd:string) AnnotationAssertion( "diffuse large lymphoid lymphoma"^^xsd:string) AnnotationAssertion( "diffuse large-cell lymphomas"^^xsd:string) AnnotationAssertion( "histiocytic lymphoma"^^xsd:string) AnnotationAssertion( "histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "Breast Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Colorectal Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "PCLBCL"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Small Intestinal Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Thyroid Gland Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "primary cutaneous large B-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050745"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (mantle cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mantle_cell_lymphoma"^^xsd:string) "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000272"^^xsd:string) AnnotationAssertion( "EFO:1000549"^^xsd:string) AnnotationAssertion( "EFO:1001469"^^xsd:string) AnnotationAssertion( "GARD:6969"^^xsd:string) AnnotationAssertion( "ICDO:9673/3"^^xsd:string) AnnotationAssertion( "MESH:D020522"^^xsd:string) AnnotationAssertion( "NCI:C187985"^^xsd:string) AnnotationAssertion( "NCI:C4337"^^xsd:string) AnnotationAssertion( "Centrocytic Small-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Diffuse Lymphocytic Lymphoma, Poorly Differentiated"^^xsd:string) AnnotationAssertion( "Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated"^^xsd:string) AnnotationAssertion( "Lymphoma, Lymphocytic, Intermediate"^^xsd:string) AnnotationAssertion( "Mantle Cell Lymphoma, Somatic"^^xsd:string) AnnotationAssertion( "Mantle Zone Lymphoma"^^xsd:string) AnnotationAssertion( "Mantle-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "centrocytic small-cell lymphomas"^^xsd:string) AnnotationAssertion( "mantle-zone lymphomas"^^xsd:string) AnnotationAssertion( "Gastric Mantle Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Splenic Mantle Cell Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050746"^^xsd:string) AnnotationAssertion(rdfs:label "mantle cell lymphoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (marginal zone lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=562554"^^xsd:string) "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000630"^^xsd:string) AnnotationAssertion( "MESH:D018442"^^xsd:string) AnnotationAssertion( "marginal zone B-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050748"^^xsd:string) AnnotationAssertion(rdfs:label "marginal zone lymphoma"^^xsd:string) SubClassOf( ) # Class: (peripheral T-cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma"^^xsd:string) "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000211"^^xsd:string) AnnotationAssertion( "GARD:7368"^^xsd:string) AnnotationAssertion( "MESH:D016411"^^xsd:string) AnnotationAssertion( "peripheral T-cell lymphomas"^^xsd:string) AnnotationAssertion( "unspecified peripheral T-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050749"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral T-cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (splenic marginal zone lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma"^^xsd:string) "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000550"^^xsd:string) AnnotationAssertion( "NCI:C4663"^^xsd:string) AnnotationAssertion( "splenic lymphoma with villous lymphocytes"^^xsd:string) AnnotationAssertion( "splenic marginal zone B-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050750"^^xsd:string) AnnotationAssertion(rdfs:label "splenic marginal zone lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (T-cell large granular lymphocyte leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia"^^xsd:string) "A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9831/3"^^xsd:string) AnnotationAssertion( "MESH:D054066"^^xsd:string) AnnotationAssertion( "NCI:C4664"^^xsd:string) AnnotationAssertion( "NCI:C64066"^^xsd:string) AnnotationAssertion( "Aggressive NK Cell Leukemia"^^xsd:string) AnnotationAssertion( "Aggressive Natural Killer Cell Leukemia"^^xsd:string) AnnotationAssertion( "LGL Leukemia"^^xsd:string) AnnotationAssertion( "LGL leukemias"^^xsd:string) AnnotationAssertion( "Large Granular Lymphocyte Leukemia"^^xsd:string) AnnotationAssertion( "Large Granular Lymphocytosis"^^xsd:string) AnnotationAssertion( "Large granular lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "Leukemia, Large Granular Lymphocytic"^^xsd:string) AnnotationAssertion( "Lymphoproliferative Disease of Large Granular Lymphocytes"^^xsd:string) AnnotationAssertion( "NK Cell Large Granular Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "NK LGL leukemia"^^xsd:string) AnnotationAssertion( "NK-LGL leukemias"^^xsd:string) AnnotationAssertion( "Natural Killer Cell Large Granular Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "T-LGL leukemia"^^xsd:string) AnnotationAssertion( "T-LGL leukemias"^^xsd:string) AnnotationAssertion( "T-cell large granular lymphocyte leukaemia"^^xsd:string) AnnotationAssertion( "T-cell large granular lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "large granular lymphocytoses"^^xsd:string) AnnotationAssertion( "lymphoproliferative disease of granular lymphocytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050751"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell large granular lymphocyte leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 8) AnnotationAssertion(Annotation( "MIM:608627"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10499"^^xsd:string) AnnotationAssertion( "MESH:C563895"^^xsd:string) AnnotationAssertion( "MIM:608627"^^xsd:string) AnnotationAssertion( "MONDO:0012077"^^xsd:string) AnnotationAssertion( "NCI:C168751"^^xsd:string) AnnotationAssertion( "ALS8"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050752"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 8"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebellar_ataxia"^^xsd:string) "A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000078"^^xsd:string) AnnotationAssertion( "OMIA:001692"^^xsd:string) AnnotationAssertion( "OMIA:001913"^^xsd:string) AnnotationAssertion( "OMIA:001954"^^xsd:string) AnnotationAssertion( "OMIA:002110"^^xsd:string) AnnotationAssertion( "MESH:D002524"^^xsd:string) AnnotationAssertion( "Adiadochokinesis"^^xsd:string) AnnotationAssertion( "Cerebellar Dysmetria"^^xsd:string) AnnotationAssertion( "Cerebellar Dysmetrias"^^xsd:string) AnnotationAssertion( "Cerebellar Hemiataxia"^^xsd:string) AnnotationAssertion( "Cerebellar Hemiataxias"^^xsd:string) AnnotationAssertion( "Cerebellar Incoordination"^^xsd:string) AnnotationAssertion( "Cerebellar Incoordinations"^^xsd:string) AnnotationAssertion( "Dysmetria"^^xsd:string) AnnotationAssertion( "Dysmetrias"^^xsd:string) AnnotationAssertion( "adiadochokineses"^^xsd:string) AnnotationAssertion( "cerebellar ataxias"^^xsd:string) AnnotationAssertion( "hypermetria"^^xsd:string) AnnotationAssertion( "hypermetrias"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, juvenile to adolescent, RAB24-related"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, neonatal"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, neonatal, GRM1-related"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, progressive early-onset"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, progressive early-onset, SEL1L-related"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, juvenile to adolescent"^^xsd:string) AnnotationAssertion( "neurodegenerative vacuolar storage disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050753"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ataxia with oculomotor apraxia type 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO)"^^xsd:string) AnnotationAssertion( "APTX-related condition"^^xsd:string) AnnotationAssertion( "GARD:9283"^^xsd:string) AnnotationAssertion( "MESH:C538013"^^xsd:string) AnnotationAssertion( "MIM:208920"^^xsd:string) AnnotationAssertion( "MONDO:0008842"^^xsd:string) AnnotationAssertion( "AOA"^^xsd:string) AnnotationAssertion( "AOA1"^^xsd:string) AnnotationAssertion( "Ataxia-telangiectasia-like syndrome"^^xsd:string) AnnotationAssertion( "EAOH"^^xsd:string) AnnotationAssertion( "EOCA-HA"^^xsd:string) AnnotationAssertion( "Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia"^^xsd:string) AnnotationAssertion( "Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia"^^xsd:string) AnnotationAssertion( "adult-onset ataxia with oculomotor apraxia"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia 1"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia syndrome"^^xsd:string) AnnotationAssertion( "ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA"^^xsd:string) AnnotationAssertion( "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050754"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia with oculomotor apraxia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia with axonal neuropathy 2) AnnotationAssertion(Annotation( "PMID:19696032"^^xsd:string) Annotation( "PMID:23786967"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1154/"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "SETX-related condition"^^xsd:string) AnnotationAssertion( "SETX-related disorder"^^xsd:string) AnnotationAssertion( "SETX-related disorders"^^xsd:string) AnnotationAssertion( "GARD:12860"^^xsd:string) AnnotationAssertion( "MESH:C537308"^^xsd:string) AnnotationAssertion( "MIM:606002"^^xsd:string) AnnotationAssertion( "MONDO:0018996"^^xsd:string) AnnotationAssertion( "NCI:C165500"^^xsd:string) AnnotationAssertion( "ORDO:64753"^^xsd:string) AnnotationAssertion( "AOA2"^^xsd:string) AnnotationAssertion( "SCAN2"^^xsd:string) AnnotationAssertion( "SCAR1"^^xsd:string) AnnotationAssertion( "ataxia with oculomotor apraxia"^^xsd:string) AnnotationAssertion( "ataxia with oculomotor apraxia type 2"^^xsd:string) AnnotationAssertion( "ataxia-ocular apraxia 2"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia 2"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia 1"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2"^^xsd:string) AnnotationAssertion( "recessive spinocerebellar ataxia, Non-Friedreich type 1"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with axonal neuropathy type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050755"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia with axonal neuropathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (deafness-dystonia-optic neuronopathy syndrome) AnnotationAssertion(Annotation( "MIM:304700"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1216/"^^xsd:string) "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0050867"^^xsd:string) AnnotationAssertion( "MIM:304700"^^xsd:string) AnnotationAssertion( "MESH:C535808"^^xsd:string) AnnotationAssertion( "MESH:C537568"^^xsd:string) AnnotationAssertion( "ORDO:3213"^^xsd:string) AnnotationAssertion( "DDP"^^xsd:string) AnnotationAssertion( "DDS"^^xsd:string) AnnotationAssertion( "Jensen syndrome"^^xsd:string) AnnotationAssertion( "MTS"^^xsd:string) AnnotationAssertion( "Mohr-Tranebjaerg syndrome"^^xsd:string) AnnotationAssertion( "Mohr-Tranebjærg Syndrome"^^xsd:string) AnnotationAssertion( "deafness (DFN-1) dystonia, mental deficiency and blindness"^^xsd:string) AnnotationAssertion( "deafness dystonia syndrome"^^xsd:string) AnnotationAssertion( "deafness-dystonia-optic atrophy syndrome"^^xsd:string) AnnotationAssertion( "nerve deafness, optic nerve atrophy, and dementia"^^xsd:string) AnnotationAssertion( "opticoacoustic nerve atrophy with dementia"^^xsd:string) AnnotationAssertion( "opticoacustic nerve atrophy with dementia"^^xsd:string) AnnotationAssertion( "progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency"^^xsd:string) AnnotationAssertion( "syndrome of opticoacoustic nerve atrophy with dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050757"^^xsd:string) AnnotationAssertion(rdfs:label "deafness-dystonia-optic neuronopathy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (metabolic acidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Metabolic_acidosis"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000335.htm"^^xsd:string) "An acquired metabolic disease that characterized by excessive production of acid. (DO)"^^xsd:string) AnnotationAssertion( "metabolic acidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050758"^^xsd:string) AnnotationAssertion(rdfs:label "metabolic acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myotonic dystrophy type 2) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1466/"^^xsd:string) "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9728"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.1"^^xsd:string) AnnotationAssertion( "MIM:602668"^^xsd:string) AnnotationAssertion( "NCI:C122789"^^xsd:string) AnnotationAssertion( "NCI:C122790"^^xsd:string) AnnotationAssertion( "ORDO:606"^^xsd:string) AnnotationAssertion( "Ricker disease"^^xsd:string) AnnotationAssertion( "Ricker syndrome"^^xsd:string) AnnotationAssertion( "proximal myotonic dystrophy"^^xsd:string) AnnotationAssertion( "proximal myotonic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050759"^^xsd:string) AnnotationAssertion(rdfs:label "myotonic dystrophy type 2"^^xsd:string) SubClassOf( ) # Class: (X-linked myopathy with excessive autophagy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/"^^xsd:string) "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310440"^^xsd:string) AnnotationAssertion( "RDO:0013167"^^xsd:string) AnnotationAssertion( "GARD:3892"^^xsd:string) AnnotationAssertion( "MESH:C564093"^^xsd:string) AnnotationAssertion( "MEAX"^^xsd:string) AnnotationAssertion( "XMEA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050760"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked myopathy with excessive autophagy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (adenylosuccinase lyase deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency"^^xsd:string) "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:103050"^^xsd:string) AnnotationAssertion( "GARD:550"^^xsd:string) AnnotationAssertion( "MESH:C538235"^^xsd:string) AnnotationAssertion( "RDO:0004188"^^xsd:string) AnnotationAssertion( "ADSL deficiency"^^xsd:string) AnnotationAssertion( "ADSL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ADSLD"^^xsd:string) AnnotationAssertion( "Adenylosuccinase deficiency"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 1"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 2"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 3"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 4"^^xsd:string) AnnotationAssertion( "adenylosuccinate lyase deficiency"^^xsd:string) AnnotationAssertion( "succinylpurinemic autism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050762"^^xsd:string) AnnotationAssertion(rdfs:label "adenylosuccinase lyase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ARC syndrome) AnnotationAssertion(Annotation( "PMID:16896922"^^xsd:string) Annotation( "PMID:22753090"^^xsd:string) Annotation( "PMID:24415890"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome"^^xsd:string) "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535382"^^xsd:string) AnnotationAssertion( "MIM:PS208085"^^xsd:string) AnnotationAssertion( "ORDO:2697"^^xsd:string) AnnotationAssertion( "ARCS"^^xsd:string) AnnotationAssertion( "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME"^^xsd:string) AnnotationAssertion( "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis"^^xsd:string) AnnotationAssertion( "arthrogryposis renal dysfunction cholestasis syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis with renal dysfunction and cholestasis syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis, renal dysfunction, and cholestasis"^^xsd:string) AnnotationAssertion( "arthrogryposis-renal dysfunction-cholestasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050763"^^xsd:string) AnnotationAssertion(rdfs:label "ARC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Armfield syndrome) AnnotationAssertion(Annotation( "PMID:10398235"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300261"^^xsd:string) AnnotationAssertion( "MESH:C564551"^^xsd:string) AnnotationAssertion( "ORDO:85276"^^xsd:string) AnnotationAssertion( "Armfield X-Linked Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "FAM50A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRXSA"^^xsd:string) AnnotationAssertion( "Mental Retardation, X-Linked, Armfield Type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Armfield type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndrome, Armfield type"^^xsd:string) AnnotationAssertion( "X-linked syndromic intellectual developmental disorder, Armfield type"^^xsd:string) AnnotationAssertion( "X-linked syndromic mental retardation, Armfield type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050764"^^xsd:string) AnnotationAssertion(rdfs:label "Armfield syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuroacanthocytosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neuroacanthocytosis"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/neuroacanthocytosis/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1387/"^^xsd:string) "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10902"^^xsd:string) AnnotationAssertion( "MESH:D054546"^^xsd:string) AnnotationAssertion( "ORDO:263440"^^xsd:string) AnnotationAssertion( "acanthocytosis with neurologic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050765"^^xsd:string) AnnotationAssertion(rdfs:label "neuroacanthocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choreaacanthocytosis) AnnotationAssertion(Annotation( "PMID:9382101"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Chorea_acanthocytosis"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis"^^xsd:string) "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3956"^^xsd:string) AnnotationAssertion( "MIM:200150"^^xsd:string) AnnotationAssertion( "NCI:C84926"^^xsd:string) AnnotationAssertion( "ORDO:2388"^^xsd:string) AnnotationAssertion( "CHAC"^^xsd:string) AnnotationAssertion( "Levine-Critchley syndrome"^^xsd:string) AnnotationAssertion( "VPS13A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "chorea acanthocytosis"^^xsd:string) AnnotationAssertion( "chorea acanthocytosis syndrome"^^xsd:string) AnnotationAssertion( "choreo-acanthocytosis"^^xsd:string) AnnotationAssertion( "choreoacanthocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050766"^^xsd:string) AnnotationAssertion(rdfs:label "choreaacanthocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (midface dysplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Frontonasal_dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050767"^^xsd:string) AnnotationAssertion(rdfs:label "midface dysplasia"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 1) AnnotationAssertion(Annotation( "MIM:604273"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604273"^^xsd:string) AnnotationAssertion( "ATPAF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MC5DN1"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050768"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 1"^^xsd:string) SubClassOf( ) # Class: (N syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3902/n-syndrome"^^xsd:string) "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310465"^^xsd:string) AnnotationAssertion( "GARD:3902"^^xsd:string) AnnotationAssertion( "MESH:C536108"^^xsd:string) AnnotationAssertion( "ORDO:2608"^^xsd:string) AnnotationAssertion( "NSX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050769"^^xsd:string) AnnotationAssertion(rdfs:label "N syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polycystic liver disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/polycystic-liver-disease/"^^xsd:string) "A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "cystic liver disease"^^xsd:string) AnnotationAssertion( "EFO:1001505"^^xsd:string) AnnotationAssertion( "GARD:9457"^^xsd:string) AnnotationAssertion( "MESH:C536330"^^xsd:string) AnnotationAssertion( "MIM:PS174050"^^xsd:string) AnnotationAssertion( "congenital cystic disease of liver"^^xsd:string) AnnotationAssertion( "congenital cystic liver disease"^^xsd:string) AnnotationAssertion( "congenital hepatic cyst"^^xsd:string) AnnotationAssertion( "fibrocystic liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050770"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic liver disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pheochromocytoma) AnnotationAssertion(Annotation( "MIM:171300"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367"^^xsd:string) "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000106"^^xsd:string) AnnotationAssertion( "GARD:7385"^^xsd:string) AnnotationAssertion( "ICDO:8700/0"^^xsd:string) AnnotationAssertion( "MESH:D010673"^^xsd:string) AnnotationAssertion( "MIM:171300"^^xsd:string) AnnotationAssertion( "MONDO:0008233"^^xsd:string) AnnotationAssertion( "phaeochromocytoma"^^xsd:string) AnnotationAssertion( "pheochromocytomas"^^xsd:string) AnnotationAssertion( "benign adrenal gland pheochromocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pheochromocytoma, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050771"^^xsd:string) AnnotationAssertion(rdfs:label "pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (spastic ataxia 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type"^^xsd:string) "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108600"^^xsd:string) AnnotationAssertion( "MESH:C566993"^^xsd:string) AnnotationAssertion( "SPAX1"^^xsd:string) AnnotationAssertion( "spastic ataxia 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050772"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paraganglioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paraganglioma"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma"^^xsd:string) "A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000364"^^xsd:string) AnnotationAssertion( "EFO:0000489"^^xsd:string) AnnotationAssertion( "EFO:0020005"^^xsd:string) AnnotationAssertion( "EFO:1000128"^^xsd:string) AnnotationAssertion( "EFO:1000453"^^xsd:string) AnnotationAssertion( "EFO:1000621"^^xsd:string) AnnotationAssertion( "ICDO:8680/3"^^xsd:string) AnnotationAssertion( "MESH:D010235"^^xsd:string) AnnotationAssertion( "MESH:D010236"^^xsd:string) AnnotationAssertion( "MIM:PS168000"^^xsd:string) AnnotationAssertion( "NCI:C3308"^^xsd:string) AnnotationAssertion( "CBT1"^^xsd:string) AnnotationAssertion( "Chemodectomas"^^xsd:string) AnnotationAssertion( "Extra-Adrenal Paraganglioma"^^xsd:string) AnnotationAssertion( "Extra-Adrenal Paragangliomas"^^xsd:string) AnnotationAssertion( "Non-Chromaffin Paraganglioma"^^xsd:string) AnnotationAssertion( "Non-Chromaffin Paragangliomas"^^xsd:string) AnnotationAssertion( "Nonchromaffin Paraganglioma"^^xsd:string) AnnotationAssertion( "Nonchromaffin Paragangliomas"^^xsd:string) AnnotationAssertion( "PGL"^^xsd:string) AnnotationAssertion( "chemodectoma"^^xsd:string) AnnotationAssertion( "extra-adrenal sympathetic paraganglioma"^^xsd:string) AnnotationAssertion( "gangliocytic paraganglioma"^^xsd:string) AnnotationAssertion( "gangliocytic paragangliomas"^^xsd:string) AnnotationAssertion( "glomus body tumor"^^xsd:string) AnnotationAssertion( "hereditary paragangliomas and pheochromocytomas"^^xsd:string) AnnotationAssertion( "paragangliomas"^^xsd:string) AnnotationAssertion( "paragangliomata"^^xsd:string) AnnotationAssertion( "pheochromocytoma-paraganglioma"^^xsd:string) AnnotationAssertion( "Bladder Paraganglioma"^^xsd:string) AnnotationAssertion( "Vagus Nerve Paraganglioma"^^xsd:string) AnnotationAssertion( "paraganglioma, familial malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050773"^^xsd:string) AnnotationAssertion(rdfs:label "paraganglioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rapadilino syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome"^^xsd:string) "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4637"^^xsd:string) AnnotationAssertion( "MESH:C535288"^^xsd:string) AnnotationAssertion( "MIM:266280"^^xsd:string) AnnotationAssertion( "MONDO:0009955"^^xsd:string) AnnotationAssertion( "ORDO:3021"^^xsd:string) AnnotationAssertion( "radial and patellar aplasia"^^xsd:string) AnnotationAssertion( "radial and patellar hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050774"^^xsd:string) AnnotationAssertion(rdfs:label "rapadilino syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (schneckenbecken dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0002274"^^xsd:string) AnnotationAssertion( "GARD:169"^^xsd:string) AnnotationAssertion( "MESH:C536637"^^xsd:string) AnnotationAssertion( "MIM:269250"^^xsd:string) AnnotationAssertion( "Chondrodysplasia, lethal neonatal, with snail-like pelvis"^^xsd:string) AnnotationAssertion( "SHNKND"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050775"^^xsd:string) AnnotationAssertion(rdfs:label "schneckenbecken dysplasia"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability) AnnotationAssertion(Annotation( "PMID:7011032"^^xsd:string) "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564490"^^xsd:string) AnnotationAssertion( "MIM:PS309530"^^xsd:string) AnnotationAssertion( "MONDO:0019181"^^xsd:string) AnnotationAssertion( "ORDO:777"^^xsd:string) AnnotationAssertion( "X-linked non-specific mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050776"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome) AnnotationAssertion(Annotation( "MIM:213300"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Joubert_syndrome"^^xsd:string) "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6802"^^xsd:string) AnnotationAssertion( "MIM:PS213300"^^xsd:string) AnnotationAssertion( "NCI:C74996"^^xsd:string) AnnotationAssertion( "ORDO:475"^^xsd:string) AnnotationAssertion( "JBTS"^^xsd:string) AnnotationAssertion( "Joubert syndrome and related disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050777"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Meckel_syndrome"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract"^^xsd:string) "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3436"^^xsd:string) AnnotationAssertion( "ICD9CM:753.1"^^xsd:string) AnnotationAssertion( "MIM:PS249000"^^xsd:string) AnnotationAssertion( "NCI:C98978"^^xsd:string) AnnotationAssertion( "ORDO:564"^^xsd:string) AnnotationAssertion( "Meckel Gruber syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050778"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome"^^xsd:string) SubClassOf( ) # Class: (hydrolethalus syndrome) AnnotationAssertion(Annotation( "PMID:15843405"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33"^^xsd:string) "A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000033"^^xsd:string) AnnotationAssertion( "GARD:6683"^^xsd:string) AnnotationAssertion( "MESH:C536079"^^xsd:string) AnnotationAssertion( "MIM:PS236680"^^xsd:string) AnnotationAssertion( "MONDO:0006037"^^xsd:string) AnnotationAssertion( "ORDO:2189"^^xsd:string) AnnotationAssertion( "Salonen-Herva-Norio syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050779"^^xsd:string) AnnotationAssertion(rdfs:label "hydrolethalus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ogden syndrome) AnnotationAssertion(Annotation( "PMID:21700266"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ogden_syndrome"^^xsd:string) "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "NAA10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:300855"^^xsd:string) AnnotationAssertion( "NCI:C188215"^^xsd:string) AnnotationAssertion( "ORDO:276432"^^xsd:string) AnnotationAssertion( "N-alpha-acetyltransferase"^^xsd:string) AnnotationAssertion( "N-terminal acetyltransferase deficiency"^^xsd:string) AnnotationAssertion( "NATD"^^xsd:string) AnnotationAssertion( "OGDNS"^^xsd:string) AnnotationAssertion( "X-linked malformation and infantile lethality syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050781"^^xsd:string) AnnotationAssertion(rdfs:label "Ogden syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Zollinger-Ellison syndrome) AnnotationAssertion(Annotation( "PMID:28949124"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome"^^xsd:string) "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007549"^^xsd:string) AnnotationAssertion( "GARD:7918"^^xsd:string) AnnotationAssertion( "ICD10CM:E16.4"^^xsd:string) AnnotationAssertion( "MESH:D015043"^^xsd:string) AnnotationAssertion( "NCI:C3453"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050782"^^xsd:string) AnnotationAssertion(rdfs:label "Zollinger-Ellison syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (secondary progressive multiple sclerosis) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string) Annotation( "http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms"^^xsd:string) "A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003840"^^xsd:string) AnnotationAssertion( "EFO:0008522"^^xsd:string) AnnotationAssertion( "SPMS"^^xsd:string) AnnotationAssertion( "Secondary-progressive MS"^^xsd:string) AnnotationAssertion( "chronic progressive multiple sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050783"^^xsd:string) AnnotationAssertion(rdfs:label "secondary progressive multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (primary progressive multiple sclerosis) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string) Annotation( "http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx"^^xsd:string) "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003840"^^xsd:string) AnnotationAssertion( "EFO:0008520"^^xsd:string) AnnotationAssertion( "MESH:D020528"^^xsd:string) AnnotationAssertion( "PPMS"^^xsd:string) AnnotationAssertion( "chronic progressive multiple sclerosis"^^xsd:string) AnnotationAssertion( "primary-progressive MS"^^xsd:string) AnnotationAssertion( "progressive remittent multiple sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050784"^^xsd:string) AnnotationAssertion(rdfs:label "primary progressive multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (progressive relapsing multiple sclerosis) AnnotationAssertion(Annotation( "PMID:35400704"^^xsd:string) "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003840"^^xsd:string) AnnotationAssertion( "PRMS"^^xsd:string) AnnotationAssertion( "progressive-relapsing MS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050785"^^xsd:string) AnnotationAssertion(rdfs:label "progressive relapsing multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (iridogoniodysgenesis syndrome) AnnotationAssertion(Annotation( "PMID:19175065"^^xsd:string) Annotation( "http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome"^^xsd:string) "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3026"^^xsd:string) AnnotationAssertion( "MONDO:0011119"^^xsd:string) AnnotationAssertion( "ORDO:98634"^^xsd:string) AnnotationAssertion( "IGDS"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050786"^^xsd:string) AnnotationAssertion(rdfs:label "iridogoniodysgenesis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (juvenile polyposis syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome"^^xsd:string) Annotation( "http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1469/"^^xsd:string) "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO)"^^xsd:string) AnnotationAssertion( "MIM:174900"^^xsd:string) AnnotationAssertion( "EFO:1000310"^^xsd:string) AnnotationAssertion( "GARD:3065"^^xsd:string) AnnotationAssertion( "MESH:C537702"^^xsd:string) AnnotationAssertion( "BMPR1A-related juvenile polyposis"^^xsd:string) AnnotationAssertion( "GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI"^^xsd:string) AnnotationAssertion( "JIP"^^xsd:string) AnnotationAssertion( "JPS"^^xsd:string) AnnotationAssertion( "JUVENILE POLYPOSIS"^^xsd:string) AnnotationAssertion( "Juvenile Polyposis Of Infancy"^^xsd:string) AnnotationAssertion( "Juvenile Polyposis, Infantile"^^xsd:string) AnnotationAssertion( "PJI"^^xsd:string) AnnotationAssertion( "SMAD4-related juvenile polyposis"^^xsd:string) AnnotationAssertion( "familial polyposis of entire gastrointestinal tract"^^xsd:string) AnnotationAssertion( "juvenile intestinal polyposis"^^xsd:string) AnnotationAssertion( "juvenile polyposis of stomach"^^xsd:string) AnnotationAssertion( "JUVENILE POLYPOSIS COLI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Juvenile Polyp"^^xsd:string) AnnotationAssertion( "DOID:0050787"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile polyposis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proximal symphalangism) AnnotationAssertion(Annotation( "https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1"^^xsd:string) "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8182"^^xsd:string) AnnotationAssertion( "MESH:C536223"^^xsd:string) AnnotationAssertion( "MIM:PS185800"^^xsd:string) AnnotationAssertion( "MONDO:0008511"^^xsd:string) AnnotationAssertion( "ORDO:3250"^^xsd:string) AnnotationAssertion( "Cushing symphalangism"^^xsd:string) AnnotationAssertion( "Cushing's symphalangism"^^xsd:string) AnnotationAssertion( "Strasburger-Hawkins-Eldridge syndrome"^^xsd:string) AnnotationAssertion( "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome"^^xsd:string) AnnotationAssertion( "Vessel's syndrome"^^xsd:string) AnnotationAssertion( "hereditary absence of proximal interphalangeal joints"^^xsd:string) AnnotationAssertion( "hereditary absence of the proximal interphalangeal joints"^^xsd:string) AnnotationAssertion( "SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050788"^^xsd:string) AnnotationAssertion(rdfs:label "proximal symphalangism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tarsal-carpal coalition syndrome) AnnotationAssertion(Annotation( "PMID:22326510"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome"^^xsd:string) "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9225"^^xsd:string) AnnotationAssertion( "MESH:C536943"^^xsd:string) AnnotationAssertion( "MIM:186570"^^xsd:string) AnnotationAssertion( "MONDO:0008521"^^xsd:string) AnnotationAssertion( "ORDO:1412"^^xsd:string) AnnotationAssertion( "NOG-Related-Symphalangism Spectrum Disorder"^^xsd:string) AnnotationAssertion( "TCC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "synostosis of talus and calcaneus with short stature"^^xsd:string) AnnotationAssertion( "DOID:0050789"^^xsd:string) AnnotationAssertion(rdfs:label "tarsal-carpal coalition syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fibular hypoplasia and complex brachydactyly) AnnotationAssertion(Annotation( "PMID:16222676"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Acromesomelic_dysplasia"^^xsd:string) "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228900"^^xsd:string) AnnotationAssertion( "MESH:C537931"^^xsd:string) AnnotationAssertion( "ORDO:2639"^^xsd:string) AnnotationAssertion( "AMD2B"^^xsd:string) AnnotationAssertion( "Du Pan syndrome"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050790"^^xsd:string) AnnotationAssertion(rdfs:label "fibular hypoplasia and complex brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (persistent Mullerian duct syndrome) AnnotationAssertion(Annotation( "MIM:261550"^^xsd:string) Annotation( "ORDO:2856"^^xsd:string) Annotation( "PMID:20352001"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome"^^xsd:string) "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261550"^^xsd:string) AnnotationAssertion( "OMIA:000791"^^xsd:string) AnnotationAssertion( "GARD:8435"^^xsd:string) AnnotationAssertion( "MESH:C536665"^^xsd:string) AnnotationAssertion( "MONDO:0009857"^^xsd:string) AnnotationAssertion( "NCI:C120188"^^xsd:string) AnnotationAssertion( "ORDO:2856"^^xsd:string) AnnotationAssertion( "AMHR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE"^^xsd:string) AnnotationAssertion( "PMDS"^^xsd:string) AnnotationAssertion( "Persistent M?llerian Duct Syndrome"^^xsd:string) AnnotationAssertion( "Persistent mullerian duct syndrome, types 1 and 2"^^xsd:string) AnnotationAssertion( "hernia uteri inguinale"^^xsd:string) AnnotationAssertion( "persistent Muellerian duct syndrome"^^xsd:string) AnnotationAssertion( "persistent Mullerian duct syndrome, types I and II"^^xsd:string) AnnotationAssertion( "persistent oviduct syndrome"^^xsd:string) AnnotationAssertion( "pseudohermaphroditism, male internal"^^xsd:string) AnnotationAssertion( "AMH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Persistent Mullerian duct syndrome, type I"^^xsd:string) AnnotationAssertion( "Persistent Mullerian duct syndrome, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050791"^^xsd:string) AnnotationAssertion(rdfs:label "persistent Mullerian duct syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple cutaneous and mucosal venous malformations) AnnotationAssertion(Annotation( "MIM:600195"^^xsd:string) Annotation( "PMID:20301733"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/"^^xsd:string) "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600195"^^xsd:string) AnnotationAssertion( "TEK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563977"^^xsd:string) AnnotationAssertion( "ORDO:2451"^^xsd:string) AnnotationAssertion( "VMCM"^^xsd:string) AnnotationAssertion( "VMCM1"^^xsd:string) AnnotationAssertion( "cutaneomucosal venous malformation"^^xsd:string) AnnotationAssertion( "mucocutaneous venous malformations"^^xsd:string) AnnotationAssertion( "CUTANEOUS VENOUS MALFORMATION"^^xsd:string) AnnotationAssertion( "SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050792"^^xsd:string) AnnotationAssertion(rdfs:label "multiple cutaneous and mucosal venous malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (short QT syndrome) AnnotationAssertion(Annotation( "MIM:609620"^^xsd:string) Annotation( "ORDO:51083"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Short_QT_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/short-qt-syndrome"^^xsd:string) "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004690"^^xsd:string) AnnotationAssertion( "MESH:C580439"^^xsd:string) AnnotationAssertion( "MIM:PS609620"^^xsd:string) AnnotationAssertion( "MONDO:0000453"^^xsd:string) AnnotationAssertion( "NCI:C71060"^^xsd:string) AnnotationAssertion( "short QT syndrome 4"^^xsd:string) AnnotationAssertion( "short QT syndrome 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050793"^^xsd:string) AnnotationAssertion(rdfs:label "short QT syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple synostoses syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/"^^xsd:string) "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS186500"^^xsd:string) AnnotationAssertion( "ORDO:3237"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050794"^^xsd:string) AnnotationAssertion(rdfs:label "multiple synostoses syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cone dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cone_dystrophy"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1418/"^^xsd:string) "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:11897"^^xsd:string) AnnotationAssertion( "MESH:D000077765"^^xsd:string) AnnotationAssertion( "MONDO:0000455"^^xsd:string) AnnotationAssertion( "retinal cone dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050795"^^xsd:string) AnnotationAssertion(rdfs:label "cone dystrophy"^^xsd:string) SubClassOf( ) # Class: (achalasia microcephaly syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Achalasia_microcephaly"^^xsd:string) "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). (DO)"^^xsd:string) AnnotationAssertion( "GARD:456"^^xsd:string) AnnotationAssertion( "MESH:C536010"^^xsd:string) AnnotationAssertion( "MIM:200450"^^xsd:string) AnnotationAssertion( "MONDO:0008699"^^xsd:string) AnnotationAssertion( "ORDO:929"^^xsd:string) AnnotationAssertion( "achalasia microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050796"^^xsd:string) AnnotationAssertion(rdfs:label "achalasia microcephaly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peroxisomal acyl-CoA oxidase deficiency) AnnotationAssertion(Annotation( "ORDO:2971"^^xsd:string) Annotation( "PMID:11815777"^^xsd:string) Annotation( "PMID:17458872"^^xsd:string) Annotation( "PMID:18536048"^^xsd:string) Annotation( "http://www.omim.org/entry/264470"^^xsd:string) "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:264470"^^xsd:string) AnnotationAssertion( "ACOX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACOX1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:4543"^^xsd:string) AnnotationAssertion( "MESH:C536662"^^xsd:string) AnnotationAssertion( "NCI:C170437"^^xsd:string) AnnotationAssertion( "ORDO:2971"^^xsd:string) AnnotationAssertion( "peroxisomal acyl-coenzyme A oxidase"^^xsd:string) AnnotationAssertion( "pseudoneonatal adrenoleukodystrophy"^^xsd:string) AnnotationAssertion( "straight-chain ACYL-COA oxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050797"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisomal acyl-CoA oxidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral creatine deficiency syndrome) AnnotationAssertion(Annotation( "MIM:300352"^^xsd:string) Annotation( "PMID:17603797"^^xsd:string) "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS300352"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050798"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral creatine deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (guanidinoacetate methyltransferase deficiency) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency"^^xsd:string) "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612736"^^xsd:string) AnnotationAssertion( "GARD:2578"^^xsd:string) AnnotationAssertion( "MESH:C537622"^^xsd:string) AnnotationAssertion( "NCI:C173468"^^xsd:string) AnnotationAssertion( "CCDS2"^^xsd:string) AnnotationAssertion( "GAMT deficiency"^^xsd:string) AnnotationAssertion( "GAMT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cerebral creatine deficiency syndrome 2"^^xsd:string) AnnotationAssertion( "creatine deficiency syndrome due to GAMT deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050799"^^xsd:string) AnnotationAssertion(rdfs:label "guanidinoacetate methyltransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral creatine deficiency syndrome 1) AnnotationAssertion(Annotation( "MIM:300352"^^xsd:string) Annotation( "PMID:17603797"^^xsd:string) "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "SLC6A8 deficiency"^^xsd:string) AnnotationAssertion( "SLC6A8-related condition"^^xsd:string) AnnotationAssertion( "MESH:C535598"^^xsd:string) AnnotationAssertion( "MIM:300352"^^xsd:string) AnnotationAssertion( "MONDO:0010305"^^xsd:string) AnnotationAssertion( "NCI:C125665"^^xsd:string) AnnotationAssertion( "ORDO:52503"^^xsd:string) AnnotationAssertion( "CCDS1"^^xsd:string) AnnotationAssertion( "Creatine Deficiency, X-Linked"^^xsd:string) AnnotationAssertion( "Creatine Transporter Defect"^^xsd:string) AnnotationAssertion( "SLC6A8-related creatine transporter deficiency"^^xsd:string) AnnotationAssertion( "X-linked creatine deficiency syndrome"^^xsd:string) AnnotationAssertion( "X-linked creatine transporter deficiency"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with creatine transport deficiency"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with seizures, short stature, and midface hypoplasia"^^xsd:string) AnnotationAssertion( "creatine deficiency syndrome 1"^^xsd:string) AnnotationAssertion( "creatine transporter deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050800"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral creatine deficiency syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (androgenic alopecia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/androgenetic-alopecia"^^xsd:string) "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004191"^^xsd:string) AnnotationAssertion( "GARD:9269"^^xsd:string) AnnotationAssertion( "alopecia androgenetica, male pattern baldness"^^xsd:string) AnnotationAssertion( "androgenetic alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050801"^^xsd:string) AnnotationAssertion(rdfs:label "androgenic alopecia"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos syndrome spondylodysplastic type 2) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, progeroid form"^^xsd:string) AnnotationAssertion( "progeroid variant of Ehlers-Danlos syndrome"^^xsd:string) AnnotationAssertion( "MIM:615349"^^xsd:string) AnnotationAssertion( "ORDO:75496"^^xsd:string) AnnotationAssertion( "EDSP2"^^xsd:string) AnnotationAssertion( "EDSSPD2"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome progeroid type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, progeroid type, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050802"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glioblastoma classical subtype) AnnotationAssertion(Annotation( "PMID:20129251"^^xsd:string) Annotation( "PMID:23029035"^^xsd:string) Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) Annotation( "http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475"^^xsd:string) "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050803"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma classical subtype"^^xsd:string) SubClassOf( ) # Class: (glioblastoma proneural subtype) AnnotationAssertion(Annotation( "PMID:20129251"^^xsd:string) Annotation( "PMID:23029035"^^xsd:string) Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050804"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma proneural subtype"^^xsd:string) SubClassOf( ) # Class: (glioblastoma mesenchymal subtype) AnnotationAssertion(Annotation( "PMID:20129251"^^xsd:string) Annotation( "PMID:23029035"^^xsd:string) Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050805"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma mesenchymal subtype"^^xsd:string) SubClassOf( ) # Class: (glioblastoma neural subtype) AnnotationAssertion(Annotation( "PMID:20129251"^^xsd:string) Annotation( "PMID:23029035"^^xsd:string) Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050806"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma neural subtype"^^xsd:string) SubClassOf( ) # Class: (Kahrizi syndrome) AnnotationAssertion(Annotation( "MIM:612713"^^xsd:string) Annotation( "ORDO:168972"^^xsd:string) "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612713"^^xsd:string) AnnotationAssertion( "MESH:C567196"^^xsd:string) AnnotationAssertion( "ORDO:168972"^^xsd:string) AnnotationAssertion( "KHRZ"^^xsd:string) AnnotationAssertion( "intellectual disability, Kahrizi type"^^xsd:string) AnnotationAssertion( "intellectual disability-cataract-coloboma-kyphosis syndrome"^^xsd:string) AnnotationAssertion( "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050807"^^xsd:string) AnnotationAssertion(rdfs:label "Kahrizi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis IX) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601492"^^xsd:string) AnnotationAssertion( "MESH:C563209"^^xsd:string) AnnotationAssertion( "NCI:C129073"^^xsd:string) AnnotationAssertion( "ORDO:67041"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF HYALURONOGLUCOSAMINIDASE"^^xsd:string) AnnotationAssertion( "MPS IX"^^xsd:string) AnnotationAssertion( "MPS9"^^xsd:string) AnnotationAssertion( "hyaluronidase deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050809"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis IX"^^xsd:string) SubClassOf( ) # Class: (biotin deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Biotin_deficiency"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK547751/"^^xsd:string) "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531633"^^xsd:string) AnnotationAssertion( "B7 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050810"^^xsd:string) AnnotationAssertion(rdfs:label "biotin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital adrenal hyperplasia) AnnotationAssertion(Annotation( "MIM:201710"^^xsd:string) Annotation( "ORDO:418"^^xsd:string) Annotation( "http://www.genome.jp/dbget-bin/www_bget?ds:H00216"^^xsd:string) "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1465"^^xsd:string) AnnotationAssertion( "GARD:1467"^^xsd:string) AnnotationAssertion( "ICD10CM:E25"^^xsd:string) AnnotationAssertion( "ICD9CM:255.2"^^xsd:string) AnnotationAssertion( "MESH:D000312"^^xsd:string) AnnotationAssertion( "ORDO:418"^^xsd:string) AnnotationAssertion( "adrenal hypoplasia congenita"^^xsd:string) AnnotationAssertion( "congenital adrenal hyperplasias"^^xsd:string) AnnotationAssertion( "congenital lipoid adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "lipoid CAH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050811"^^xsd:string) AnnotationAssertion(rdfs:label "congenital adrenal hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Pakistani type) AnnotationAssertion(Annotation( "MIM:612847"^^xsd:string) Annotation( "ORDO:93282"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567552"^^xsd:string) AnnotationAssertion( "MIM:612847"^^xsd:string) AnnotationAssertion( "MESH:C567551"^^xsd:string) AnnotationAssertion( "BCYM4"^^xsd:string) AnnotationAssertion( "SEMD, Pakistani type"^^xsd:string) AnnotationAssertion( "brachyolmia type 4 with mild epiphyseal and metaphyseal changes"^^xsd:string) AnnotationAssertion( "spondylodysplasia and premature pubarche"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050812"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Pakistani type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia with congenital joint dislocations) AnnotationAssertion(Annotation( "http://www.uniprot.org/diseases/DI-01753"^^xsd:string) "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143095"^^xsd:string) AnnotationAssertion( "MESH:C535789"^^xsd:string) AnnotationAssertion( "CDMD"^^xsd:string) AnnotationAssertion( "CHST3-related skeletal dysplasia"^^xsd:string) AnnotationAssertion( "HSD"^^xsd:string) AnnotationAssertion( "Kozlowski Celermajer Tink syndrome"^^xsd:string) AnnotationAssertion( "Omani Type"^^xsd:string) AnnotationAssertion( "Omani type of spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "SED with luxations, CHST3 type"^^xsd:string) AnnotationAssertion( "SED, Omani type"^^xsd:string) AnnotationAssertion( "SEDCJD"^^xsd:string) AnnotationAssertion( "chondrodysplasia with multiple dislocations"^^xsd:string) AnnotationAssertion( "humero-spinal dysostosis"^^xsd:string) AnnotationAssertion( "humero-spinal dysostosis with congenital heart disease"^^xsd:string) AnnotationAssertion( "humerospinal dysostosis"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia, CHST3-related"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia, Omani type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050813"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia with congenital joint dislocations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (temtamy preaxial brachydactyly syndrome) AnnotationAssertion(Annotation( "ORDO:363417"^^xsd:string) Annotation( "PMID:21129728"^^xsd:string) Annotation( "http://www.sciencedirect.com/science/article/pii/S1769721213002449"^^xsd:string) "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605282"^^xsd:string) AnnotationAssertion( "GARD:9679"^^xsd:string) AnnotationAssertion( "MESH:C536958"^^xsd:string) AnnotationAssertion( "ORDO:363417"^^xsd:string) AnnotationAssertion( "CHSY1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Preaxial brachydactyly syndrome, Temtamy type"^^xsd:string) AnnotationAssertion( "TPBS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050814"^^xsd:string) AnnotationAssertion(rdfs:label "temtamy preaxial brachydactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urofacial syndrome) AnnotationAssertion(Annotation( "MIM:236730"^^xsd:string) Annotation( "ORDO:2704"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Urofacial_syndrome"^^xsd:string) "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2781"^^xsd:string) AnnotationAssertion( "MESH:C536480"^^xsd:string) AnnotationAssertion( "MIM:PS236730"^^xsd:string) AnnotationAssertion( "ORDO:2704"^^xsd:string) AnnotationAssertion( "Inverted smile and occult neuropathic bladder"^^xsd:string) AnnotationAssertion( "Ochoa syndrome"^^xsd:string) AnnotationAssertion( "UFS"^^xsd:string) AnnotationAssertion( "hydronephrosis with peculiar facial expression"^^xsd:string) AnnotationAssertion( "hydronephrosis-inverted smile"^^xsd:string) AnnotationAssertion( "inverted smile-neurogenic bladder"^^xsd:string) AnnotationAssertion( "partial facial palsy with urinary abnormalities"^^xsd:string) AnnotationAssertion( "urofacial Ochoa's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050816"^^xsd:string) AnnotationAssertion(rdfs:label "urofacial syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stargardt disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stargardt_disease"^^xsd:string) "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:181"^^xsd:string) AnnotationAssertion( "MESH:D000080362"^^xsd:string) AnnotationAssertion( "MONDO:0019353"^^xsd:string) AnnotationAssertion( "NCI:C85078"^^xsd:string) AnnotationAssertion( "ORDO:827"^^xsd:string) AnnotationAssertion( "STGD"^^xsd:string) AnnotationAssertion( "Stargardt macular degeneration"^^xsd:string) AnnotationAssertion( "Stargardt's disease"^^xsd:string) AnnotationAssertion( "juvenile macular degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050817"^^xsd:string) AnnotationAssertion(rdfs:label "Stargardt disease"^^xsd:string) SubClassOf( ) # Class: (transcobalamin II deficiency) AnnotationAssertion(Annotation( "MIM:275350"^^xsd:string) Annotation( "https://www.orpha.net/data/patho/GB/uk-TCII.pdf"^^xsd:string) "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275350"^^xsd:string) AnnotationAssertion( "NCI:C142806"^^xsd:string) AnnotationAssertion( "RDO:0008510"^^xsd:string) AnnotationAssertion( "TC II DEFICIENCY"^^xsd:string) AnnotationAssertion( "TCN2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050818"^^xsd:string) AnnotationAssertion(rdfs:label "transcobalamin II deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (atrioventricular block) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atrioventricular_block"^^xsd:string) "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005305"^^xsd:string) AnnotationAssertion( "ICD10CM:I44.3"^^xsd:string) AnnotationAssertion( "ICD9CM:426.10"^^xsd:string) AnnotationAssertion( "MESH:D054537"^^xsd:string) AnnotationAssertion( "NCI:C26703"^^xsd:string) AnnotationAssertion( "AV block"^^xsd:string) AnnotationAssertion( "AV blocks"^^xsd:string) AnnotationAssertion( "Atrioventricular Blocks"^^xsd:string) AnnotationAssertion( "Atrioventricular Conduction Block"^^xsd:string) AnnotationAssertion( "Atrioventricular Conduction Blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AV Block Third Degree Adverse Event"^^xsd:string) AnnotationAssertion( "DOID:0050820"^^xsd:string) AnnotationAssertion(rdfs:label "atrioventricular block"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (first-degree atrioventricular block) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/First-degree_atrioventricular_block"^^xsd:string) "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000763"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050821"^^xsd:string) AnnotationAssertion(rdfs:label "first-degree atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (second-degree atrioventricular block) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block"^^xsd:string) "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003341"^^xsd:string) AnnotationAssertion( "idiopathic second-degree atrioventricular block"^^xsd:string) AnnotationAssertion( "second-degree heart block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050822"^^xsd:string) AnnotationAssertion(rdfs:label "second-degree atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (third-degree atrioventricular block) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block"^^xsd:string) "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003343"^^xsd:string) AnnotationAssertion( "complete AV block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050823"^^xsd:string) AnnotationAssertion(rdfs:label "third-degree atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (sinoatrial node disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sinoatrial_node"^^xsd:string) "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002665"^^xsd:string) AnnotationAssertion( "SA node"^^xsd:string) AnnotationAssertion( "sinuatrial node"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050824"^^xsd:string) AnnotationAssertion(rdfs:label "sinoatrial node disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocardium disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocardium"^^xsd:string) "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050825"^^xsd:string) AnnotationAssertion(rdfs:label "endocardium disease"^^xsd:string) SubClassOf( ) # Class: (tricuspid valve disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/"^^xsd:string) "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009568"^^xsd:string) AnnotationAssertion( "ICD10CM:I07"^^xsd:string) AnnotationAssertion( "ICD9CM:397.0"^^xsd:string) AnnotationAssertion( "RH. tricuspid valve disease"^^xsd:string) AnnotationAssertion( "disease of tricuspid valve"^^xsd:string) AnnotationAssertion( "rheumatic disease of tricuspid valve"^^xsd:string) AnnotationAssertion( "rheumatic tricuspid valve disease"^^xsd:string) AnnotationAssertion( "tricuspid disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050826"^^xsd:string) AnnotationAssertion(rdfs:label "tricuspid valve disease"^^xsd:string) SubClassOf( ) # Class: (rheumatic heart disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rheumatic_heart_disease"^^xsd:string) "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001161"^^xsd:string) AnnotationAssertion( "MESH:D012214"^^xsd:string) AnnotationAssertion( "Bouillaud disease"^^xsd:string) AnnotationAssertion( "Bouillaud's Disease"^^xsd:string) AnnotationAssertion( "Bouillauds Disease"^^xsd:string) AnnotationAssertion( "rheumatic carditis"^^xsd:string) AnnotationAssertion( "rheumatic heart diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050827"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic heart disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (artery disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Artery#Pathology"^^xsd:string) "A vascular disease that is located_in an artery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:108000"^^xsd:string) AnnotationAssertion( "MONDO:0000473"^^xsd:string) AnnotationAssertion( "arterial disease"^^xsd:string) AnnotationAssertion( "arterial disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050828"^^xsd:string) AnnotationAssertion(rdfs:label "artery disease"^^xsd:string) SubClassOf( ) # Class: (pericardium disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pericardium"^^xsd:string) "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000474"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050829"^^xsd:string) AnnotationAssertion(rdfs:label "pericardium disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripheral artery disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health/health-topics/topics/pad/"^^xsd:string) "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004265"^^xsd:string) AnnotationAssertion( "MESH:D058729"^^xsd:string) AnnotationAssertion( "peripheral arterial disease"^^xsd:string) AnnotationAssertion( "peripheral arterial diseases"^^xsd:string) AnnotationAssertion( "peripheral artery diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050830"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral artery disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial encephalopathy with neuroserpin inclusion bodies) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies"^^xsd:string) Annotation( "http://www.jbc.org/content/277/19/17367"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport"^^xsd:string) "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604218"^^xsd:string) AnnotationAssertion( "GARD:10037"^^xsd:string) AnnotationAssertion( "MESH:C536841"^^xsd:string) AnnotationAssertion( "FENIB"^^xsd:string) AnnotationAssertion( "familial dementia with neuroserpin inclusion bodies"^^xsd:string) AnnotationAssertion( "familial encephalopathy with Collins bodies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050831"^^xsd:string) AnnotationAssertion(rdfs:label "familial encephalopathy with neuroserpin inclusion bodies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pyrimidine metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pyrimidine_metabolism"^^xsd:string) "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050832"^^xsd:string) AnnotationAssertion(rdfs:label "pyrimidine metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (orotic aciduria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Orotic_aciduria"^^xsd:string) Annotation( "http://www.omim.org/entry/258900"^^xsd:string) "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258900"^^xsd:string) AnnotationAssertion( "MESH:C537136"^^xsd:string) AnnotationAssertion( "NCI:C98944"^^xsd:string) AnnotationAssertion( "ORDO:30"^^xsd:string) AnnotationAssertion( "OPRT AND ODC DEFICIENCY"^^xsd:string) AnnotationAssertion( "OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "OROTIC ACIDURIA I"^^xsd:string) AnnotationAssertion( "Orotate phosphoribosyltransferase and omp decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "Oroticaciduria 1"^^xsd:string) AnnotationAssertion( "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "UMP SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "UMPS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Uridine monophosphate synthase deficiency"^^xsd:string) AnnotationAssertion( "hereditary orotic aciduria"^^xsd:string) AnnotationAssertion( "hereditary orotic aciduria, type 1"^^xsd:string) AnnotationAssertion( "uridine monophosphate synthetase deficiency"^^xsd:string) AnnotationAssertion( "OAWA"^^xsd:string) AnnotationAssertion( "UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050833"^^xsd:string) AnnotationAssertion(rdfs:label "orotic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CHARGE syndrome) AnnotationAssertion(Annotation( "ORDO:138"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/CHARGE_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/charge-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract"^^xsd:string) "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214800"^^xsd:string) AnnotationAssertion( "CHD7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:29"^^xsd:string) AnnotationAssertion( "MESH:D058747"^^xsd:string) AnnotationAssertion( "NCI:C75100"^^xsd:string) AnnotationAssertion( "ORDO:138"^^xsd:string) AnnotationAssertion( "CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies"^^xsd:string) AnnotationAssertion( "CHARGE Associations"^^xsd:string) AnnotationAssertion( "CHARGE Syndromes"^^xsd:string) AnnotationAssertion( "CHARGE association"^^xsd:string) AnnotationAssertion( "HHS"^^xsd:string) AnnotationAssertion( "Hall Hittner syndrome"^^xsd:string) AnnotationAssertion( "familial CHARGE syndrome"^^xsd:string) AnnotationAssertion( "familial CHARGE syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050834"^^xsd:string) AnnotationAssertion(rdfs:label "CHARGE syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (generalized dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that affects most or all of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.2"^^xsd:string) AnnotationAssertion( "ICD9CM:333.6"^^xsd:string) AnnotationAssertion( "ICD9CM:333.8"^^xsd:string) AnnotationAssertion( "NCI:C34564"^^xsd:string) AnnotationAssertion( "NCI:C35437"^^xsd:string) AnnotationAssertion( "NCI:C35438"^^xsd:string) AnnotationAssertion( "NCI:C35527"^^xsd:string) AnnotationAssertion( "fragments of torsion dystonia"^^xsd:string) AnnotationAssertion( "idiopathic familial dystonia"^^xsd:string) AnnotationAssertion( "idiopathic non-familial dystonia"^^xsd:string) AnnotationAssertion( "symptomatic torsion dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050835"^^xsd:string) AnnotationAssertion(rdfs:label "generalized dystonia"^^xsd:string) SubClassOf( ) # Class: (focal dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that is localized to a specific part of the body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611284"^^xsd:string) AnnotationAssertion( "GARD:6458"^^xsd:string) AnnotationAssertion( "MESH:C566973"^^xsd:string) AnnotationAssertion( "FTSD"^^xsd:string) AnnotationAssertion( "Musician's Dystonia"^^xsd:string) AnnotationAssertion( "focal dystonia, task-specific"^^xsd:string) AnnotationAssertion( "focal dystonias"^^xsd:string) AnnotationAssertion( "occupational cramp"^^xsd:string) AnnotationAssertion( "occupational dystonia"^^xsd:string) AnnotationAssertion( "task-specific dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050836"^^xsd:string) AnnotationAssertion(rdfs:label "focal dystonia"^^xsd:string) SubClassOf( ) # Class: (multifocal dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that involves two or more unrelated body parts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002844"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050837"^^xsd:string) AnnotationAssertion(rdfs:label "multifocal dystonia"^^xsd:string) SubClassOf( ) # Class: (segmental dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that affects two or more adjacent parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050838"^^xsd:string) AnnotationAssertion(rdfs:label "segmental dystonia"^^xsd:string) SubClassOf( ) # Class: (anismus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anismus"^^xsd:string) "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003190"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050839"^^xsd:string) AnnotationAssertion(rdfs:label "anismus"^^xsd:string) SubClassOf( ) # Class: (cervical dystonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spasmodic_torticollis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1155/"^^xsd:string) "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10668"^^xsd:string) AnnotationAssertion( "MESH:D014103"^^xsd:string) AnnotationAssertion( "Psychogenic Torticollis"^^xsd:string) AnnotationAssertion( "Spasmodic Torticollis"^^xsd:string) AnnotationAssertion( "Torticollis"^^xsd:string) AnnotationAssertion( "intermittent torticollis"^^xsd:string) AnnotationAssertion( "wryneck"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050840"^^xsd:string) AnnotationAssertion(rdfs:label "cervical dystonia"^^xsd:string) SubClassOf( ) # Class: (focal hand dystonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dystonia"^^xsd:string) "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:333.84"^^xsd:string) AnnotationAssertion( "organic writer's cramp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050841"^^xsd:string) AnnotationAssertion(rdfs:label "focal hand dystonia"^^xsd:string) SubClassOf( ) # Class: (oculogyric crisis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oculogyric_crisis"^^xsd:string) "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003198"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050842"^^xsd:string) AnnotationAssertion(rdfs:label "oculogyric crisis"^^xsd:string) SubClassOf( ) # Class: (oromandibular dystonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oromandibular_dystonia"^^xsd:string) "A focal dystonia that is characterized by distortions of the mouth and tongue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003200"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050843"^^xsd:string) AnnotationAssertion(rdfs:label "oromandibular dystonia"^^xsd:string) SubClassOf( ) # Class: (spasmodic dystonia) AnnotationAssertion(Annotation( "http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx"^^xsd:string) "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "laryngeal dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050844"^^xsd:string) AnnotationAssertion(rdfs:label "spasmodic dystonia"^^xsd:string) SubClassOf( ) # Class: (cranio-facial dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003204"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050845"^^xsd:string) AnnotationAssertion(rdfs:label "cranio-facial dystonia"^^xsd:string) SubClassOf( ) # Class: (hemidystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A multifocal dystonia that involves the arm and leg on the same side of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050846"^^xsd:string) AnnotationAssertion(rdfs:label "hemidystonia"^^xsd:string) SubClassOf( ) # Class: (sleep apnea) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/"^^xsd:string) "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003877"^^xsd:string) AnnotationAssertion( "ICD9CM:780.57"^^xsd:string) AnnotationAssertion( "MESH:D012891"^^xsd:string) AnnotationAssertion( "NCI:C26884"^^xsd:string) AnnotationAssertion( "hypersomnia with periodic respiration"^^xsd:string) AnnotationAssertion( "sleep apnea syndrome"^^xsd:string) AnnotationAssertion( "sleep apneas"^^xsd:string) AnnotationAssertion( "sleep disordered breathing"^^xsd:string) AnnotationAssertion( "sleep hypopnea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050847"^^xsd:string) AnnotationAssertion(rdfs:label "sleep apnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (obstructive sleep apnea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Obstructive_sleep_apnea"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1"^^xsd:string) "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107650"^^xsd:string) AnnotationAssertion( "EFO:0003918"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.33"^^xsd:string) AnnotationAssertion( "ICD9CM:327.23"^^xsd:string) AnnotationAssertion( "MESH:D020181"^^xsd:string) AnnotationAssertion( "NCI:C116337"^^xsd:string) AnnotationAssertion( "NCI:C27168"^^xsd:string) AnnotationAssertion( "OSAHS"^^xsd:string) AnnotationAssertion( "Sleep Apnea Hypopnea Syndrome"^^xsd:string) AnnotationAssertion( "obstructive sleep apnea syndrome"^^xsd:string) AnnotationAssertion( "obstructive sleep apneas"^^xsd:string) AnnotationAssertion( "upper airway resistance sleep apnea syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050848"^^xsd:string) AnnotationAssertion(rdfs:label "obstructive sleep apnea"^^xsd:string) SubClassOf( ) # Class: (periampullary adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/"^^xsd:string) "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO)"^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2010-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "periampullary adenoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050849"^^xsd:string) AnnotationAssertion(rdfs:label "periampullary adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diabetic encephalopathy) AnnotationAssertion(Annotation( "PMID:20798963"^^xsd:string) Annotation( "http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1"^^xsd:string) "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. (DO)"^^xsd:string) AnnotationAssertion( "diabetic encephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050850"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomerulosclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glomerulosclerosis"^^xsd:string) "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050851"^^xsd:string) AnnotationAssertion(rdfs:label "glomerulosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (limb ischemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ischemia"^^xsd:string) "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050852"^^xsd:string) AnnotationAssertion(rdfs:label "limb ischemia"^^xsd:string) SubClassOf( ) # Class: (chronic venous insufficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chronic_venous_insufficiency"^^xsd:string) "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007940"^^xsd:string) AnnotationAssertion( "RDO:9000012"^^xsd:string) AnnotationAssertion( "Chronic Venous Disease"^^xsd:string) AnnotationAssertion( "Chronic Venous Insufficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050853"^^xsd:string) AnnotationAssertion(rdfs:label "chronic venous insufficiency"^^xsd:string) SubClassOf( ) # Class: (Muckle-Wells syndrome) AnnotationAssertion(Annotation( "PMID:11687797"^^xsd:string) Annotation( "PMID:11992256"^^xsd:string) "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8472"^^xsd:string) AnnotationAssertion( "ICD10CM:M04.2"^^xsd:string) AnnotationAssertion( "MIM:191900"^^xsd:string) AnnotationAssertion( "NCI:C119054"^^xsd:string) AnnotationAssertion( "ORDO:575"^^xsd:string) AnnotationAssertion( "CAPS2"^^xsd:string) AnnotationAssertion( "MWS"^^xsd:string) AnnotationAssertion( "UDA syndrome"^^xsd:string) AnnotationAssertion( "cryopyrin-associated periodic syndrome 2"^^xsd:string) AnnotationAssertion( "neutrophilic urticaria"^^xsd:string) AnnotationAssertion( "urticaria-deafness-amyloidosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050854"^^xsd:string) AnnotationAssertion(rdfs:label "Muckle-Wells syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal fibrosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/"^^xsd:string) "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001517"^^xsd:string) AnnotationAssertion( "kidney fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050855"^^xsd:string) AnnotationAssertion(rdfs:label "renal fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oppositional defiant disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Oppositional_defiant_disorder"^^xsd:string) "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050856"^^xsd:string) AnnotationAssertion(rdfs:label "oppositional defiant disorder"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (Perrault syndrome) AnnotationAssertion(Annotation( "PMID:23541340"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/gene/LARS2"^^xsd:string) "A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2542"^^xsd:string) AnnotationAssertion( "MIM:PS233400"^^xsd:string) AnnotationAssertion( "ORDO:2855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050857"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marshall-Smith syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome"^^xsd:string) "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "NFIX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6985"^^xsd:string) AnnotationAssertion( "MESH:C536026"^^xsd:string) AnnotationAssertion( "MIM:602535"^^xsd:string) AnnotationAssertion( "MONDO:0011244"^^xsd:string) AnnotationAssertion( "ORDO:561"^^xsd:string) AnnotationAssertion( "MRSHSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050858"^^xsd:string) AnnotationAssertion(rdfs:label "Marshall-Smith syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemorrhagic cystitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hemorrhagic_cystitis"^^xsd:string) "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050859"^^xsd:string) AnnotationAssertion(rdfs:label "hemorrhagic cystitis"^^xsd:string) SubClassOf( ) # Class: (colorectal adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Colorectal_adenoma"^^xsd:string) "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005406"^^xsd:string) AnnotationAssertion( "EFO:1000197"^^xsd:string) AnnotationAssertion( "MONDO:0005484"^^xsd:string) AnnotationAssertion( "NCI:C5673"^^xsd:string) AnnotationAssertion( "Colorectal Sessile Serrated Adenoma/Polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "colonic adenoma recurrence, reduced risk of"^^xsd:string) AnnotationAssertion( "DOID:0050860"^^xsd:string) AnnotationAssertion(rdfs:label "colorectal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colorectal adenocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000365"^^xsd:string) AnnotationAssertion( "EFO:0009361"^^xsd:string) AnnotationAssertion( "EFO:1000196"^^xsd:string) AnnotationAssertion( "NCI:C5105"^^xsd:string) AnnotationAssertion( "colorectal mucinous adenocarcinoma"^^xsd:string) AnnotationAssertion( "colorectal serrated adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050861"^^xsd:string) AnnotationAssertion(rdfs:label "colorectal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyometritis) AnnotationAssertion(Annotation( "PMID:16284801"^^xsd:string) "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050862"^^xsd:string) AnnotationAssertion(rdfs:label "pyometritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arteritic anterior ischemic optic neuropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy"^^xsd:string) "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050863"^^xsd:string) AnnotationAssertion(rdfs:label "arteritic anterior ischemic optic neuropathy"^^xsd:string) SubClassOf( ) # Class: (non-arteritic anterior ischemic optic neuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/"^^xsd:string) "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. (DO)"^^xsd:string) AnnotationAssertion( "AION"^^xsd:string) AnnotationAssertion( "MIM:258660"^^xsd:string) AnnotationAssertion( "NAION"^^xsd:string) AnnotationAssertion( "non-arteritic AION"^^xsd:string) AnnotationAssertion( "non-arteritic anterior ischaemic optic neuropathy"^^xsd:string) AnnotationAssertion( "nonarteritic anterior ischaemic optic neuropathy"^^xsd:string) AnnotationAssertion( "nonarteritic anterior ischemic optic neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NAION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "anterior ischemic optic neuropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "nonarteritic anterior ischemic optic neuropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050864"^^xsd:string) AnnotationAssertion(rdfs:label "non-arteritic anterior ischemic optic neuropathy"^^xsd:string) SubClassOf( ) # Class: (tongue squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string) "A head and neck squamous cell carcinoma that is located_in the tongue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000055"^^xsd:string) AnnotationAssertion( "NCI:C4648"^^xsd:string) AnnotationAssertion( "RDO:9000054"^^xsd:string) AnnotationAssertion( "SCCT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050865"^^xsd:string) AnnotationAssertion(rdfs:label "tongue squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "An oral cavity cancer that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000199"^^xsd:string) AnnotationAssertion( "GARD:7263"^^xsd:string) AnnotationAssertion( "NCI:C132823"^^xsd:string) AnnotationAssertion( "OSCC"^^xsd:string) AnnotationAssertion( "mouth squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050866"^^xsd:string) AnnotationAssertion(rdfs:label "oral squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hepatocellular adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hepatocellular_adenoma"^^xsd:string) "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000762"^^xsd:string) AnnotationAssertion( "MESH:D018248"^^xsd:string) AnnotationAssertion( "Benign Hepatoma"^^xsd:string) AnnotationAssertion( "benign hepatomas"^^xsd:string) AnnotationAssertion( "hepatocellular adenomas"^^xsd:string) AnnotationAssertion( "liver cell adenoma"^^xsd:string) AnnotationAssertion( "liver cell adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050868"^^xsd:string) AnnotationAssertion(rdfs:label "hepatocellular adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (villous adenoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma"^^xsd:string) "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8261/0"^^xsd:string) AnnotationAssertion( "MESH:D018253"^^xsd:string) AnnotationAssertion( "villous adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050869"^^xsd:string) AnnotationAssertion(rdfs:label "villous adenoma"^^xsd:string) SubClassOf( ) # Class: (pulmonary adenocarcinoma in situ) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma"^^xsd:string) "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050870"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary adenocarcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibroma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibroma"^^xsd:string) "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000497"^^xsd:string) AnnotationAssertion( "EFO:0002424"^^xsd:string) AnnotationAssertion( "EFO:1000148"^^xsd:string) AnnotationAssertion( "EFO:1000556"^^xsd:string) AnnotationAssertion( "ICDO:8810/0"^^xsd:string) AnnotationAssertion( "MESH:D005350"^^xsd:string) AnnotationAssertion( "Fibromyxoma"^^xsd:string) AnnotationAssertion( "fibromas"^^xsd:string) AnnotationAssertion( "fibromatoses"^^xsd:string) AnnotationAssertion( "fibromatosis"^^xsd:string) AnnotationAssertion( "fibromyxomas"^^xsd:string) AnnotationAssertion( "myxofibroma"^^xsd:string) AnnotationAssertion( "myxofibromas"^^xsd:string) AnnotationAssertion( "Superficial Fibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050871"^^xsd:string) AnnotationAssertion(rdfs:label "fibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large cell neuroendocrine carcinoma) AnnotationAssertion(Annotation( "PMID:15999058"^^xsd:string) "A lung large cell carcinoma that derives_from neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000563"^^xsd:string) AnnotationAssertion( "ICDO:8013/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050872"^^xsd:string) AnnotationAssertion(rdfs:label "large cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (follicular lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Follicular_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=428287"^^xsd:string) "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). (DO)"^^xsd:string) AnnotationAssertion( "MIM:613024"^^xsd:string) AnnotationAssertion( "EFO:1000211"^^xsd:string) AnnotationAssertion( "GARD:2356"^^xsd:string) AnnotationAssertion( "ICDO:9690/3"^^xsd:string) AnnotationAssertion( "MESH:D008224"^^xsd:string) AnnotationAssertion( "MONDO:0018906"^^xsd:string) AnnotationAssertion( "NCI:C3209"^^xsd:string) AnnotationAssertion( "NCI:C3465"^^xsd:string) AnnotationAssertion( "Brill Symmers Disease"^^xsd:string) AnnotationAssertion( "FL1"^^xsd:string) AnnotationAssertion( "Follicular Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Grade 1"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Grade 2"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Grade 3"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Somatic"^^xsd:string) AnnotationAssertion( "Follicular Lymphomas"^^xsd:string) AnnotationAssertion( "Follicular Mixed Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Follicular Mixed-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "Giant Follicular Lymphoma"^^xsd:string) AnnotationAssertion( "Giant Follicular Lymphomas"^^xsd:string) AnnotationAssertion( "Large Lymphoid Lymphoma, Nodular"^^xsd:string) AnnotationAssertion( "Lymphocytic Lymphoma, Nodular, Poorly Differentiated"^^xsd:string) AnnotationAssertion( "Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic"^^xsd:string) AnnotationAssertion( "Lymphoma, Follicular, Mixed Small and Large Lymphoid"^^xsd:string) AnnotationAssertion( "Lymphoma, Follicular, Small and Large Cleaved Cell"^^xsd:string) AnnotationAssertion( "Lymphoma, Nodular, Mixed Lymphocytic Histiocytic"^^xsd:string) AnnotationAssertion( "Lymphoma, Nodular, Mixed Small and Large Cell"^^xsd:string) AnnotationAssertion( "Lymphoma, Small Lymphoid, Follicular"^^xsd:string) AnnotationAssertion( "Nodular Histiocytic Lymphoma"^^xsd:string) AnnotationAssertion( "Nodular Histiocytic Lymphomas"^^xsd:string) AnnotationAssertion( "Nodular Large Follicular Center Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Nodular Lymphoma"^^xsd:string) AnnotationAssertion( "Nodular Lymphomas"^^xsd:string) AnnotationAssertion( "follicular large-cell lymphomas"^^xsd:string) AnnotationAssertion( "follicular small cleaved cell lymphoma"^^xsd:string) AnnotationAssertion( "small follicular center cell lymphoma"^^xsd:string) AnnotationAssertion( "Cutaneous Follicular Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:0050873"^^xsd:string) AnnotationAssertion(rdfs:label "follicular lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Caroli disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Caroli_disease"^^xsd:string) Annotation( "http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract"^^xsd:string) "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001286"^^xsd:string) AnnotationAssertion( "GARD:6002"^^xsd:string) AnnotationAssertion( "MESH:D016767"^^xsd:string) AnnotationAssertion( "MONDO:0010913"^^xsd:string) AnnotationAssertion( "NCI:C84619"^^xsd:string) AnnotationAssertion( "Caroli's disease"^^xsd:string) AnnotationAssertion( "Carolis Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050876"^^xsd:string) AnnotationAssertion(rdfs:label "Caroli disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic agenesis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf"^^xsd:string) "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003314"^^xsd:string) AnnotationAssertion( "DOID:9009230"^^xsd:string) AnnotationAssertion( "PDX1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:4203"^^xsd:string) AnnotationAssertion( "MESH:C564908"^^xsd:string) AnnotationAssertion( "MIM:PS260370"^^xsd:string) AnnotationAssertion( "MONDO:0009832"^^xsd:string) AnnotationAssertion( "ORDO:2805"^^xsd:string) AnnotationAssertion( "PAGEN"^^xsd:string) AnnotationAssertion( "congenital pancreatic agenesis"^^xsd:string) AnnotationAssertion( "congenital pancreatic hypoplasia"^^xsd:string) AnnotationAssertion( "pancreatic hypoplasia"^^xsd:string) AnnotationAssertion( "partial pancreatic agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050877"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic agenesis"^^xsd:string) SubClassOf( ) # Class: (fragile X-associated tremor/ataxia syndrome) AnnotationAssertion(Annotation( "MIM:300623"^^xsd:string) Annotation( "ORDO:93256"^^xsd:string) Annotation( "PMID:18195136"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome"^^xsd:string) "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300623"^^xsd:string) AnnotationAssertion( "MESH:C564105"^^xsd:string) AnnotationAssertion( "NCI:C126566"^^xsd:string) AnnotationAssertion( "ORDO:93256"^^xsd:string) AnnotationAssertion( "FXTAS"^^xsd:string) AnnotationAssertion( "FXTAS syndrome"^^xsd:string) AnnotationAssertion( "Fragile X Tremor Ataxia Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050879"^^xsd:string) AnnotationAssertion(rdfs:label "fragile X-associated tremor/ataxia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Koolen de Vries syndrome) AnnotationAssertion(Annotation( "MIM:610443"^^xsd:string) Annotation( "ORDO:96169"^^xsd:string) Annotation( "PMID:19447831"^^xsd:string) Annotation( "PMID:22544363"^^xsd:string) Annotation( "PMID:22544367"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome"^^xsd:string) Annotation( "http://www.17q21.com/en/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK24676/"^^xsd:string) "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070076"^^xsd:string) AnnotationAssertion( "MIM:610443"^^xsd:string) AnnotationAssertion( "RDO:0014820"^^xsd:string) AnnotationAssertion( "GARD:10727"^^xsd:string) AnnotationAssertion( "MESH:C566476"^^xsd:string) AnnotationAssertion( "ORDO:96169"^^xsd:string) AnnotationAssertion( "17q21.31 deletion syndrome"^^xsd:string) AnnotationAssertion( "17q21.31 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 17q21.31 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 17q21.31 Microdeletion Syndrome"^^xsd:string) AnnotationAssertion( "KANSL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KANSL1-related intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "KDVS"^^xsd:string) AnnotationAssertion( "Koolen syndrome"^^xsd:string) AnnotationAssertion( "monosomy 17q21.31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050880"^^xsd:string) AnnotationAssertion(rdfs:label "Koolen de Vries syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inclusion body myopathy with Paget disease of bone and frontotemporal dementia) AnnotationAssertion(Annotation( "MIM:167320"^^xsd:string) Annotation( "PMID:19380227"^^xsd:string) Annotation( "PMID:21304887"^^xsd:string) Annotation( "PMID:21892620"^^xsd:string) "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563476"^^xsd:string) AnnotationAssertion( "MIM:PS167320"^^xsd:string) AnnotationAssertion( "ORDO:52430"^^xsd:string) AnnotationAssertion( "IBMPFD"^^xsd:string) AnnotationAssertion( "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA"^^xsd:string) AnnotationAssertion( "Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia"^^xsd:string) AnnotationAssertion( "Lower Motor Neuron Degeneration With Paget-Like Bone Disease"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone"^^xsd:string) AnnotationAssertion( "Pagetoid Amyotrophic Lateral Sclerosis"^^xsd:string) AnnotationAssertion( "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia"^^xsd:string) AnnotationAssertion( "inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia"^^xsd:string) AnnotationAssertion( "pagetoid neuroskeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050881"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 5) AnnotationAssertion(Annotation( "ORDO:98766"^^xsd:string) Annotation( "PMID:20368622"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "SPTBN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4953"^^xsd:string) AnnotationAssertion( "MIM:600224"^^xsd:string) AnnotationAssertion( "SCA5"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050882"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 5"^^xsd:string) SubClassOf( ) # Class: (infantile cerebellar-retinal degeneration) AnnotationAssertion(Annotation( "MIM:614559"^^xsd:string) Annotation( "ORDO:313850"^^xsd:string) Annotation( "PMID:22405087"^^xsd:string) Annotation( "PMID:23438437"^^xsd:string) Annotation( "http://www.uniprot.org/diseases/DI-03409"^^xsd:string) "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO)"^^xsd:string) AnnotationAssertion( "ACO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACO2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "ACO2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GARD:13264"^^xsd:string) AnnotationAssertion( "MIM:614559"^^xsd:string) AnnotationAssertion( "ICRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050883"^^xsd:string) AnnotationAssertion(rdfs:label "infantile cerebellar-retinal degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (triosephosphate isomerase deficiency) AnnotationAssertion(Annotation( "MIM:615512"^^xsd:string) Annotation( "ORDO:868"^^xsd:string) Annotation( "PMID:16980388"^^xsd:string) Annotation( "PMID:17424909"^^xsd:string) Annotation( "PMID:23318931"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport"^^xsd:string) "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615512"^^xsd:string) AnnotationAssertion( "GARD:5287"^^xsd:string) AnnotationAssertion( "MESH:C566029"^^xsd:string) AnnotationAssertion( "NCI:C131652"^^xsd:string) AnnotationAssertion( "TPID"^^xsd:string) AnnotationAssertion( "triose phosphate-isomerase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TPI-Hungary"^^xsd:string) AnnotationAssertion( "DOID:0050884"^^xsd:string) AnnotationAssertion(rdfs:label "triosephosphate isomerase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IMAGe syndrome) AnnotationAssertion(Annotation( "MIM:614732"^^xsd:string) Annotation( "ORDO:85173"^^xsd:string) Annotation( "PMID:14760276"^^xsd:string) Annotation( "PMID:22634751"^^xsd:string) Annotation( "PMID:23719190"^^xsd:string) Annotation( "PMID:24065356"^^xsd:string) "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202155"^^xsd:string) AnnotationAssertion( "MIM:614732"^^xsd:string) AnnotationAssertion( "GARD:12312"^^xsd:string) AnnotationAssertion( "MESH:C564543"^^xsd:string) AnnotationAssertion( "Adrenal Hypoplasia, Cytomegalic Type"^^xsd:string) AnnotationAssertion( "IMAGE"^^xsd:string) AnnotationAssertion( "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities"^^xsd:string) AnnotationAssertion( "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050885"^^xsd:string) AnnotationAssertion(rdfs:label "IMAGe syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Troyer syndrome) AnnotationAssertion(Annotation( "MIM:275900"^^xsd:string) Annotation( "PMID:20301556"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/SPG20"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/troyer-syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/gene/SPG20"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple"^^xsd:string) "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275900"^^xsd:string) AnnotationAssertion( "GARD:5372"^^xsd:string) AnnotationAssertion( "MESH:C536858"^^xsd:string) AnnotationAssertion( "ORDO:101000"^^xsd:string) AnnotationAssertion( "Cross-McKusick syndrome"^^xsd:string) AnnotationAssertion( "SPART-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPG20"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 20"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia Troyer type"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 20"^^xsd:string) AnnotationAssertion( "childhood-onset spastic paraparesis with distal muscle wasting"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 20"^^xsd:string) AnnotationAssertion( "spastic paraplegia 20"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 20"^^xsd:string) AnnotationAssertion( "spastic paraplegia with distal muscle wasting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050886"^^xsd:string) AnnotationAssertion(rdfs:label "Troyer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Townes-Brocks syndrome) AnnotationAssertion(Annotation( "PMID:12925729"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome"^^xsd:string) Annotation( "http://www.omim.org/entry/107480"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple"^^xsd:string) "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7784"^^xsd:string) AnnotationAssertion( "MESH:C536974"^^xsd:string) AnnotationAssertion( "MIM:107480"^^xsd:string) AnnotationAssertion( "MIM:PS107480"^^xsd:string) AnnotationAssertion( "MONDO:0007142"^^xsd:string) AnnotationAssertion( "Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome"^^xsd:string) AnnotationAssertion( "REAR syndrome"^^xsd:string) AnnotationAssertion( "SALL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TBS1"^^xsd:string) AnnotationAssertion( "Townes Syndrome"^^xsd:string) AnnotationAssertion( "Townes-Brocks syndrome 1"^^xsd:string) AnnotationAssertion( "anal-ear-renal-radial malformation syndrome"^^xsd:string) AnnotationAssertion( "imperforate anus with hand, foot, and ear anomalies"^^xsd:string) AnnotationAssertion( "imperforate anus-hand and foot anomalies syndrome"^^xsd:string) AnnotationAssertion( "renal-ear-anal-radial syndrome"^^xsd:string) AnnotationAssertion( "renal-ear-anal-radial syndrome (rear)"^^xsd:string) AnnotationAssertion( "sensorineural deafness with imperforate anus and hypoplastic thumbs"^^xsd:string) AnnotationAssertion( "sensorineural deafness with imperforate anus and thumb anomalies"^^xsd:string) AnnotationAssertion( "sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Townes-Brocks-branchiootorenal-like syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050887"^^xsd:string) AnnotationAssertion(rdfs:label "Townes-Brocks syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic intellectual disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string) "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050888"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic intellectual disability"^^xsd:string) SubClassOf( ) # Class: (non-syndromic intellectual disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/"^^xsd:string) "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050889"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic intellectual disability"^^xsd:string) SubClassOf( ) # Class: (synucleinopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Synucleinopathies"^^xsd:string) "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000080874"^^xsd:string) AnnotationAssertion( "MONDO:0000510"^^xsd:string) AnnotationAssertion( "α-synucleinopathy"^^xsd:string) AnnotationAssertion( "a-synucleinopathies"^^xsd:string) AnnotationAssertion( "a-synucleinopathy"^^xsd:string) AnnotationAssertion( "alpha synuclein pathologies"^^xsd:string) AnnotationAssertion( "alpha synuclein pathology"^^xsd:string) AnnotationAssertion( "alpha synucleinopathies"^^xsd:string) AnnotationAssertion( "alpha-synucleinopathy"^^xsd:string) AnnotationAssertion( "synucleinopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050890"^^xsd:string) AnnotationAssertion(rdfs:label "synucleinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal cortical adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenocortical_adenoma"^^xsd:string) "An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003104"^^xsd:string) AnnotationAssertion( "EFO:1000208"^^xsd:string) AnnotationAssertion( "EFO:1000399"^^xsd:string) AnnotationAssertion( "EFO:1000523"^^xsd:string) AnnotationAssertion( "ICDO:8370/0"^^xsd:string) AnnotationAssertion( "MESH:D018246"^^xsd:string) AnnotationAssertion( "NCI:C9003"^^xsd:string) AnnotationAssertion( "Conn Adenoma"^^xsd:string) AnnotationAssertion( "Conn adenomas"^^xsd:string) AnnotationAssertion( "Conn disease"^^xsd:string) AnnotationAssertion( "Conn's disease"^^xsd:string) AnnotationAssertion( "Conns disease"^^xsd:string) AnnotationAssertion( "adrenal cortical adenomas"^^xsd:string) AnnotationAssertion( "adrenocortical adenoma"^^xsd:string) AnnotationAssertion( "adrenocortical adenomas"^^xsd:string) AnnotationAssertion( "Aldosterone Producing Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "Cortisol-Producing Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "Non-Functioning Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "Sex Hormone-Producing Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050891"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal cortical adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal gland pheochromocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/pheochromocytoma"^^xsd:string) "A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-06T17:14:16Z"^^xsd:string) AnnotationAssertion( "EFO:0000239"^^xsd:string) AnnotationAssertion( "EFO:1000348"^^xsd:string) AnnotationAssertion( "NCI:C121568"^^xsd:string) AnnotationAssertion( "NCI:C134960"^^xsd:string) AnnotationAssertion( "NCI:C3326"^^xsd:string) AnnotationAssertion( "Malignant Adrenal Gland Pheochromocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050892"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal gland pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050893"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ameloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ameloblastoma"^^xsd:string) "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000487"^^xsd:string) AnnotationAssertion( "GARD:5747"^^xsd:string) AnnotationAssertion( "ICDO:9310/0"^^xsd:string) AnnotationAssertion( "MESH:D000564"^^xsd:string) AnnotationAssertion( "MONDO:0017795"^^xsd:string) AnnotationAssertion( "NCI:C4313"^^xsd:string) AnnotationAssertion( "ORDO:314419"^^xsd:string) AnnotationAssertion( "ameloblastomas"^^xsd:string) AnnotationAssertion( "plexiform ameloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050894"^^xsd:string) AnnotationAssertion(rdfs:label "ameloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bone ameloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ameloblastoma"^^xsd:string) "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050895"^^xsd:string) AnnotationAssertion(rdfs:label "bone ameloblastoma"^^xsd:string) SubClassOf( ) # Class: (bone squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A bone carcinoma that derives_from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050896"^^xsd:string) AnnotationAssertion(rdfs:label "bone squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone chondrosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondrosarcoma"^^xsd:string) "A chondrosarcoma that is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050897"^^xsd:string) AnnotationAssertion(rdfs:label "bone chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (phalanx chondroma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondroma"^^xsd:string) "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004367"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050898"^^xsd:string) AnnotationAssertion(rdfs:label "phalanx chondroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain stem medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string) "A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050899"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sacrum chordoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sacrum"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45297"^^xsd:string) "A spinal chordoma that is located_in the sacrum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C129927"^^xsd:string) AnnotationAssertion( "sacral chordoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050900"^^xsd:string) AnnotationAssertion(rdfs:label "sacrum chordoma"^^xsd:string) SubClassOf( ) # Class: (corpus callosum oligodendroglioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Corpus_callosum"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Oligodendroglioma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46257"^^xsd:string) "A brain oligodendroglioma located_in the corpus callosum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050901"^^xsd:string) AnnotationAssertion(rdfs:label "corpus callosum oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45780"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/"^^xsd:string) "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155255"^^xsd:string) AnnotationAssertion( "PTCH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0002939"^^xsd:string) AnnotationAssertion( "GARD:7005"^^xsd:string) AnnotationAssertion( "ICDO:9470/3"^^xsd:string) AnnotationAssertion( "MESH:D008527"^^xsd:string) AnnotationAssertion( "NCI:C27294"^^xsd:string) AnnotationAssertion( "NCI:C3222"^^xsd:string) AnnotationAssertion( "NCI:C3716"^^xsd:string) AnnotationAssertion( "ORDO:616"^^xsd:string) AnnotationAssertion( "CNS PNET"^^xsd:string) AnnotationAssertion( "CPNET"^^xsd:string) AnnotationAssertion( "MDB"^^xsd:string) AnnotationAssertion( "Medulloblastoma, histologically defined"^^xsd:string) AnnotationAssertion( "brain medulloblastoma"^^xsd:string) AnnotationAssertion( "circumscribed arachnoidal cerebellar sarcoma"^^xsd:string) AnnotationAssertion( "desmoplastic medulloblastoma"^^xsd:string) AnnotationAssertion( "desmoplastic medulloblastomas"^^xsd:string) AnnotationAssertion( "infratentorial primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "localized primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "medulloblastoma predisposition syndrome"^^xsd:string) AnnotationAssertion( "medulloblastomas"^^xsd:string) AnnotationAssertion( "melanocytic medulloblastoma"^^xsd:string) AnnotationAssertion( "melanocytic medulloblastomas"^^xsd:string) AnnotationAssertion( "CLASSIC MEDULLOBLASTOMA"^^xsd:string) AnnotationAssertion( "MBEN"^^xsd:string) AnnotationAssertion( "medulloblastoma with extensive nodularity"^^xsd:string) AnnotationAssertion( "medulloblastoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ELP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DOID:0050902"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parietal lobe ependymoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46432"^^xsd:string) "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050903"^^xsd:string) AnnotationAssertion(rdfs:label "parietal lobe ependymoma"^^xsd:string) SubClassOf( ) # Class: (salivary gland carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Salivary_gland_neoplasm"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string) "A salivary gland cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000344"^^xsd:string) AnnotationAssertion( "EFO:1000379"^^xsd:string) AnnotationAssertion( "EFO:1000514"^^xsd:string) AnnotationAssertion( "EFO:1000516"^^xsd:string) AnnotationAssertion( "EFO:1000517"^^xsd:string) AnnotationAssertion( "EFO:1001967"^^xsd:string) AnnotationAssertion( "Major Salivary Gland Carcinoma"^^xsd:string) AnnotationAssertion( "Minor Salivary Gland Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Adenosquamous Carcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Basal Cell Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Large Cell Carcinoma"^^xsd:string) AnnotationAssertion( "salivary gland squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050904"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory myofibroblastic tumor) AnnotationAssertion(Annotation( "PMID:23091756"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/"^^xsd:string) "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000127"^^xsd:string) AnnotationAssertion( "EFO:1000333"^^xsd:string) AnnotationAssertion( "EFO:1000510"^^xsd:string) AnnotationAssertion( "GARD:7146"^^xsd:string) AnnotationAssertion( "myofibroblastic tumor"^^xsd:string) AnnotationAssertion( "Bladder Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "Lung Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "Retroperitoneal Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050905"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory myofibroblastic tumor"^^xsd:string) SubClassOf( ) # Class: (conjunctival nevus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conjunctiva"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors"^^xsd:string) "A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000205"^^xsd:string) AnnotationAssertion( "RDO:9002409"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050906"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival nevus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed extragonadal germ cell cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=444993"^^xsd:string) "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000524"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050907"^^xsd:string) AnnotationAssertion(rdfs:label "mixed extragonadal germ cell cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myelodysplastic syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myelodysplastic_syndrome"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45266"^^xsd:string) "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO)"^^xsd:string) AnnotationAssertion( "ACSL6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ASXL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TET2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0000198"^^xsd:string) AnnotationAssertion( "GARD:7132"^^xsd:string) AnnotationAssertion( "ICDO:9989/3"^^xsd:string) AnnotationAssertion( "MESH:D009190"^^xsd:string) AnnotationAssertion( "MIM:614286"^^xsd:string) AnnotationAssertion( "MONDO:0018881"^^xsd:string) AnnotationAssertion( "NCI:C3247"^^xsd:string) AnnotationAssertion( "MDS"^^xsd:string) AnnotationAssertion( "SF3B1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "dysmyelopoietic syndrome"^^xsd:string) AnnotationAssertion( "dysmyelopoietic syndromes"^^xsd:string) AnnotationAssertion( "hematopoetic myelodysplasia"^^xsd:string) AnnotationAssertion( "hematopoetic myelodysplasias"^^xsd:string) AnnotationAssertion( "myelodysplastic syndromes"^^xsd:string) AnnotationAssertion( "myelodysplasia"^^xsd:string) AnnotationAssertion( "myelodysplastic syndrome progressed to acute myeloid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "myelodysplastic syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050908"^^xsd:string) AnnotationAssertion(rdfs:label "myelodysplastic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45774"^^xsd:string) Annotation( "http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt"^^xsd:string) "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000191"^^xsd:string) AnnotationAssertion( "EFO:1000146"^^xsd:string) AnnotationAssertion( "EFO:1000537"^^xsd:string) AnnotationAssertion( "EFO:1000591"^^xsd:string) AnnotationAssertion( "ICDO:9699/3"^^xsd:string) AnnotationAssertion( "MIM:137245"^^xsd:string) AnnotationAssertion( "NCI:C3898"^^xsd:string) AnnotationAssertion( "LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE"^^xsd:string) AnnotationAssertion( "Lymphoma of Mucosa Associated Lymphoid Tissue"^^xsd:string) AnnotationAssertion( "MALT lymphoma"^^xsd:string) AnnotationAssertion( "MALT lymphoma of the dura"^^xsd:string) AnnotationAssertion( "mucosa associated lymphoid tissue lymphoma"^^xsd:string) AnnotationAssertion( "Breast Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) AnnotationAssertion( "Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) AnnotationAssertion( "Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050909"^^xsd:string) AnnotationAssertion(rdfs:label "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue"^^xsd:string) SubClassOf( ) # Class: (cecum adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000155"^^xsd:string) AnnotationAssertion( "caecum adenoma"^^xsd:string) AnnotationAssertion( "Cecum Villous Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050910"^^xsd:string) AnnotationAssertion(rdfs:label "cecum adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (appendix carcinoid tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoid"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44233"^^xsd:string) "An appendix cancer that has_material_basis_in neurodendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000090"^^xsd:string) AnnotationAssertion( "EFO:1000092"^^xsd:string) AnnotationAssertion( "appendix carcinoid endocrine tumour"^^xsd:string) AnnotationAssertion( "Appendix Goblet Cell Carcinoid"^^xsd:string) AnnotationAssertion( "Appendix Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050911"^^xsd:string) AnnotationAssertion(rdfs:label "appendix carcinoid tumor"^^xsd:string) SubClassOf( ) # Class: (colon adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Colorectal_adenoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46217"^^xsd:string) "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050912"^^xsd:string) AnnotationAssertion(rdfs:label "colon adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large intestine adenocarcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46216"^^xsd:string) "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000365"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050913"^^xsd:string) AnnotationAssertion(rdfs:label "large intestine adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large intestine adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005406"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050914"^^xsd:string) AnnotationAssertion(rdfs:label "large intestine adenoma"^^xsd:string) SubClassOf( ) # Class: (rectal adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000503"^^xsd:string) AnnotationAssertion( "EFO:1000504"^^xsd:string) AnnotationAssertion( "EFO:1000505"^^xsd:string) AnnotationAssertion( "EFO:1000506"^^xsd:string) AnnotationAssertion( "NCI:C5546"^^xsd:string) AnnotationAssertion( "rectum adenoma"^^xsd:string) AnnotationAssertion( "Rectal Tubulovillous Adenoma"^^xsd:string) AnnotationAssertion( "rectal traditional serrated adenoma"^^xsd:string) AnnotationAssertion( "rectal tubular adenoma"^^xsd:string) AnnotationAssertion( "rectal villous adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050915"^^xsd:string) AnnotationAssertion(rdfs:label "rectal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchus mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A mucoepidermoid carcinoma located_in the bronchus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050916"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung combined type small cell adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45327"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46216"^^xsd:string) "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050917"^^xsd:string) AnnotationAssertion(rdfs:label "lung combined type small cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A vaginal cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000617"^^xsd:string) AnnotationAssertion( "EFO:1000620"^^xsd:string) AnnotationAssertion( "Vaginal Adenoid Cystic Carcinoma"^^xsd:string) AnnotationAssertion( "Vaginal Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050918"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trachea mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A mucoepidermoid carcinoma located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050919"^^xsd:string) AnnotationAssertion(rdfs:label "trachea mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tonsil squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A tonsil cancer that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000597"^^xsd:string) AnnotationAssertion( "MONDO:0006470"^^xsd:string) AnnotationAssertion( "NCI:C8183"^^xsd:string) AnnotationAssertion( "tonsillar squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050920"^^xsd:string) AnnotationAssertion(rdfs:label "tonsil squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pharynx squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A pharynx cancer that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001965"^^xsd:string) AnnotationAssertion( "NCI:C102872"^^xsd:string) AnnotationAssertion( "RDO:9002336"^^xsd:string) AnnotationAssertion( "pharyngeal squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050921"^^xsd:string) AnnotationAssertion(rdfs:label "pharynx squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000218"^^xsd:string) AnnotationAssertion( "MONDO:0006181"^^xsd:string) AnnotationAssertion( "digestive system carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050922"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle epithelial tumor with thymus-like differentiation tumor) AnnotationAssertion(Annotation( "PMID:19417583"^^xsd:string) Annotation( "PMID:2050369"^^xsd:string) Annotation( "http://www.pathologyoutlines.com/topic/thyroidsettle.html"^^xsd:string) Annotation( "http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext"^^xsd:string) "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000593"^^xsd:string) AnnotationAssertion( "SETTLE tumor"^^xsd:string) AnnotationAssertion( "SETTLE tumour"^^xsd:string) AnnotationAssertion( "spindle epithelial tumour with thymus-like differentiation tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050923"^^xsd:string) AnnotationAssertion(rdfs:label "spindle epithelial tumor with thymus-like differentiation tumor"^^xsd:string) SubClassOf( ) # Class: (striated muscle rhabdoid tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46139"^^xsd:string) "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050924"^^xsd:string) AnnotationAssertion(rdfs:label "striated muscle rhabdoid tumor"^^xsd:string) SubClassOf( ) # Class: (small intestine carcinoid neuroendocrine tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoid"^^xsd:string) "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "intestinal carcinoid tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050925"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine carcinoid neuroendocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (jejunal adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050926"^^xsd:string) AnnotationAssertion(rdfs:label "jejunal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenum adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000225"^^xsd:string) AnnotationAssertion( "Duodenal Villous Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050927"^^xsd:string) AnnotationAssertion(rdfs:label "duodenum adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian melanoma) AnnotationAssertion(Annotation( "PMID:15166669"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Melanoma"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/"^^xsd:string) "An ovarian cancer that has_material_basis_in melanoctyes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050928"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian melanoma"^^xsd:string) SubClassOf( ) # Class: (mucosal melanoma) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic"^^xsd:string) "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C114828"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050929"^^xsd:string) AnnotationAssertion(rdfs:label "mucosal melanoma"^^xsd:string) SubClassOf( ) # Class: (sublingual gland adenoid cystic carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string) "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050930"^^xsd:string) AnnotationAssertion(rdfs:label "sublingual gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (parotid gland adenoid cystic carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Parotid_gland"^^xsd:string) "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000459"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050931"^^xsd:string) AnnotationAssertion(rdfs:label "parotid gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (lung mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006740"^^xsd:string) AnnotationAssertion( "EFO:1000038"^^xsd:string) AnnotationAssertion( "NCI:C45544"^^xsd:string) AnnotationAssertion( "RDO:9001989"^^xsd:string) AnnotationAssertion( "pulmonary mucoepidermoid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050932"^^xsd:string) AnnotationAssertion(rdfs:label "lung mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian serous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Serous_carcinoma"^^xsd:string) "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002917"^^xsd:string) AnnotationAssertion( "EFO:1001516"^^xsd:string) AnnotationAssertion( "MONDO:0005211"^^xsd:string) AnnotationAssertion( "serous carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050933"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian serous carcinoma"^^xsd:string) SubClassOf( ) # Class: (ovarian clear cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma"^^xsd:string) "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050934"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (cervical neuroblastoma) AnnotationAssertion(Annotation( "PMID:15390353"^^xsd:string) Annotation( "PMID:9262064"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string) Annotation( "http://link.springer.com/article/10.1007%2Fs12070-007-0083-5"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487"^^xsd:string) "An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050935"^^xsd:string) AnnotationAssertion(rdfs:label "cervical neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (extra-adrenal pheochromocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string) "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000489"^^xsd:string) AnnotationAssertion( "EFO:1000349"^^xsd:string) AnnotationAssertion( "Malignant Bladder Paraganglioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050936"^^xsd:string) AnnotationAssertion(rdfs:label "extra-adrenal pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (retroperitoneal neuroblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string) Annotation( "http://en.wiktionary.org/wiki/retroperitoneal"^^xsd:string) "A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050937"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (breast lobular carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/breastlobular"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=426416"^^xsd:string) "A breast carcinoma that derives_from breast lobules (milk glands). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000570"^^xsd:string) AnnotationAssertion( "EFO:0008509"^^xsd:string) AnnotationAssertion( "ICDO:8520/3"^^xsd:string) AnnotationAssertion( "MESH:D018275"^^xsd:string) AnnotationAssertion( "NCI:C3771"^^xsd:string) AnnotationAssertion( "lobular carcinoma"^^xsd:string) AnnotationAssertion( "lobular carcinoma of breast"^^xsd:string) AnnotationAssertion( "lobular carcinoma of the breast"^^xsd:string) AnnotationAssertion( "lobular carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050938"^^xsd:string) AnnotationAssertion(rdfs:label "breast lobular carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus endometrial carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/"^^xsd:string) "A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050939"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus endometrial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocervical adenocarcinoma) AnnotationAssertion(Annotation( "PMID:12207781"^^xsd:string) "An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050940"^^xsd:string) AnnotationAssertion(rdfs:label "endocervical adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 2) AnnotationAssertion(Annotation( "PMID:17273843"^^xsd:string) "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611302"^^xsd:string) AnnotationAssertion( "MESH:C566969"^^xsd:string) AnnotationAssertion( "NCI:C177252"^^xsd:string) AnnotationAssertion( "SPAX2"^^xsd:string) AnnotationAssertion( "spastic ataxia 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050941"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 3) AnnotationAssertion(Annotation( "PMID:22448145"^^xsd:string) "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611390"^^xsd:string) AnnotationAssertion( "MARS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566956"^^xsd:string) AnnotationAssertion( "ARSAL"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE SPASTIC ATAXIA"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Spastic Ataxia With Leukoencephalopathy"^^xsd:string) AnnotationAssertion( "SPAX3"^^xsd:string) AnnotationAssertion( "spastic ataxia 3, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050942"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 4) AnnotationAssertion(Annotation( "PMID:20970105"^^xsd:string) "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613672"^^xsd:string) AnnotationAssertion( "MTPAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPAX4"^^xsd:string) AnnotationAssertion( "spastic ataxia 4, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050943"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 5) AnnotationAssertion(Annotation( "PMID:22022284"^^xsd:string) "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614487"^^xsd:string) AnnotationAssertion( "MONDO:0013776"^^xsd:string) AnnotationAssertion( "ORDO:313772"^^xsd:string) AnnotationAssertion( "SPAX5"^^xsd:string) AnnotationAssertion( "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"^^xsd:string) AnnotationAssertion( "spastic ataxia 5, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050944"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 7) AnnotationAssertion(Annotation( "PMID:6821680"^^xsd:string) "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000811"^^xsd:string) AnnotationAssertion( "MESH:C566247"^^xsd:string) AnnotationAssertion( "MIM:108650"^^xsd:string) AnnotationAssertion( "SPAX7"^^xsd:string) AnnotationAssertion( "spastic ataxia 7, autosomal dominant"^^xsd:string) AnnotationAssertion( "spastic ataxia with congenital miosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050945"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charlevoix-Saguenay spastic ataxia) AnnotationAssertion(Annotation( "MIM:270550"^^xsd:string) Annotation( "PMID:24384335"^^xsd:string) Annotation( "PMID:26344561"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270550"^^xsd:string) AnnotationAssertion( "RDO:0002476"^^xsd:string) AnnotationAssertion( "GARD:4910"^^xsd:string) AnnotationAssertion( "MESH:C536787"^^xsd:string) AnnotationAssertion( "NCI:C154614"^^xsd:string) AnnotationAssertion( "ARSACS"^^xsd:string) AnnotationAssertion( "SACS"^^xsd:string) AnnotationAssertion( "SACS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPAX6"^^xsd:string) AnnotationAssertion( "Spastic Ataxia Charlevoix-Saguenay Type"^^xsd:string) AnnotationAssertion( "Spastic ataxia 6, autosomal recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic ataxia of Charlevoix-Saguenay"^^xsd:string) AnnotationAssertion( "spastic ataxia of Charlevoix-Saguenay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050946"^^xsd:string) AnnotationAssertion(rdfs:label "Charlevoix-Saguenay spastic ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary hypophosphatemic rickets with hypercalciuria) AnnotationAssertion(Annotation( "http://www.omim.org/entry/241530?search=241530&highlight=241530"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple"^^xsd:string) "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241530"^^xsd:string) AnnotationAssertion( "MESH:C562793"^^xsd:string) AnnotationAssertion( "HHRH"^^xsd:string) AnnotationAssertion( "SLC34A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hypercalciuric rickets"^^xsd:string) AnnotationAssertion( "hypophosphatemic rickets with hypercalciuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050947"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary hypophosphatemic rickets with hypercalciuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant hypophosphatemic rickets) AnnotationAssertion(Annotation( "PMID:26365554"^^xsd:string) Annotation( "http://www.omim.org/entry/193100?search=193100&highlight=193100"^^xsd:string) "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562791"^^xsd:string) AnnotationAssertion( "MIM:193100"^^xsd:string) AnnotationAssertion( "MONDO:0008660"^^xsd:string) AnnotationAssertion( "ADHR"^^xsd:string) AnnotationAssertion( "autosomal dominant hypophosphatemia"^^xsd:string) AnnotationAssertion( "hypophosphatemic rickets, dominant"^^xsd:string) AnnotationAssertion( "vitamin D-resistant rickets, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050948"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive hypophosphatemic rickets) AnnotationAssertion(Annotation( "http://www.omim.org/entry/241520?search=241520&highlight=241520"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple"^^xsd:string) "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:289176"^^xsd:string) AnnotationAssertion( "DMP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "recessive hypophosphatemic rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050949"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive cerebellar ataxia) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string) "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS213200"^^xsd:string) AnnotationAssertion( "ORDO:1172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050950"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cerebellar ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary ataxia) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1138"^^xsd:string) "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009671"^^xsd:string) AnnotationAssertion( "GARD:6614"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050951"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia) AnnotationAssertion(Annotation( "PMID:24384335"^^xsd:string) Annotation( "PMID:26344561"^^xsd:string) "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564815"^^xsd:string) AnnotationAssertion( "MIM:PS108600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050952"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked hereditary ataxia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/"^^xsd:string) "A hereditary ataxia that is characterized by X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050953"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked hereditary ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003089"^^xsd:string) AnnotationAssertion( "GARD:4071"^^xsd:string) AnnotationAssertion( "MIM:164400"^^xsd:string) AnnotationAssertion( "MONDO:0008119"^^xsd:string) AnnotationAssertion( "NCI:C129982"^^xsd:string) AnnotationAssertion( "ATXN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CPD1"^^xsd:string) AnnotationAssertion( "Menzel type OPCA"^^xsd:string) AnnotationAssertion( "OPCA I"^^xsd:string) AnnotationAssertion( "OPCA IV"^^xsd:string) AnnotationAssertion( "OPCA1"^^xsd:string) AnnotationAssertion( "OPCA4"^^xsd:string) AnnotationAssertion( "SCA1"^^xsd:string) AnnotationAssertion( "Schut Haymaker type OPCA"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder I"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy I"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy IV"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 1"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050954"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 1"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:183090"^^xsd:string) AnnotationAssertion( "NCI:C148315"^^xsd:string) AnnotationAssertion( "ORDO:98756"^^xsd:string) AnnotationAssertion( "OPCA2"^^xsd:string) AnnotationAssertion( "SCA2"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy 2"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy II"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy, Holguin type"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 2"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with slow eye movements"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, Cuban type"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy 2"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy II"^^xsd:string) AnnotationAssertion( "spinocerebellar degeneration with slow eye movements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050955"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 6) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10351"^^xsd:string) AnnotationAssertion( "MIM:183086"^^xsd:string) AnnotationAssertion( "MONDO:0008457"^^xsd:string) AnnotationAssertion( "NCI:C142838"^^xsd:string) AnnotationAssertion( "SCA6"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050956"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 6"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 4) AnnotationAssertion(Annotation( "PMID:38035881"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9970"^^xsd:string) AnnotationAssertion( "MIM:600223"^^xsd:string) AnnotationAssertion( "MONDO:0010847"^^xsd:string) AnnotationAssertion( "ORDO:98765"^^xsd:string) AnnotationAssertion( "SCA4"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 4"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050957"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 4"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 7) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ATXN7-related condition"^^xsd:string) AnnotationAssertion( "MIM:164500"^^xsd:string) AnnotationAssertion( "MONDO:0008120"^^xsd:string) AnnotationAssertion( "NCI:C126562"^^xsd:string) AnnotationAssertion( "ORDO:94147"^^xsd:string) AnnotationAssertion( "ADCA, type II"^^xsd:string) AnnotationAssertion( "OPCA III"^^xsd:string) AnnotationAssertion( "OPCA with macular degeneration and external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "OPCA with retinal degeneration"^^xsd:string) AnnotationAssertion( "OPCA3"^^xsd:string) AnnotationAssertion( "SCA7"^^xsd:string) AnnotationAssertion( "autosomal dominant cerebellar ataxia, type II"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy III"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050958"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 7"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 8) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608768"^^xsd:string) AnnotationAssertion( "MESH:C537307"^^xsd:string) AnnotationAssertion( "SCA8"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050959"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 8"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1175/"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603516"^^xsd:string) AnnotationAssertion( "GARD:10474"^^xsd:string) AnnotationAssertion( "MESH:C566874"^^xsd:string) AnnotationAssertion( "SCA10"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050960"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 10"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 11) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604432"^^xsd:string) AnnotationAssertion( "MESH:C565772"^^xsd:string) AnnotationAssertion( "SCA11"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 11"^^xsd:string) AnnotationAssertion( "TTBK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050961"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 11"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 12) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604326"^^xsd:string) AnnotationAssertion( "MESH:C565790"^^xsd:string) AnnotationAssertion( "NCI:C154316"^^xsd:string) AnnotationAssertion( "ORDO:98762"^^xsd:string) AnnotationAssertion( "PPP2R2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PPP2R2B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "SCA12"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050962"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 12"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 13) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605259"^^xsd:string) AnnotationAssertion( "MESH:C537195"^^xsd:string) AnnotationAssertion( "Autosomal dominant cerebellar ataxia with mental retardation"^^xsd:string) AnnotationAssertion( "KCNC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA13"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050963"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 13"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 14) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605361"^^xsd:string) AnnotationAssertion( "MESH:C537196"^^xsd:string) AnnotationAssertion( "RDO:0002985"^^xsd:string) AnnotationAssertion( "PRKCG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA14"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050964"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 14"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 15) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050966"^^xsd:string) AnnotationAssertion( "MIM:606658"^^xsd:string) AnnotationAssertion( "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA"^^xsd:string) AnnotationAssertion( "MESH:C564685"^^xsd:string) AnnotationAssertion( "NCI:C150250"^^xsd:string) AnnotationAssertion( "SCA15"^^xsd:string) AnnotationAssertion( "SCA16"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 15"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 16"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 15/16"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050965"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 15"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (spinocerebellar ataxia type 17) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001531"^^xsd:string) AnnotationAssertion( "DOID:9002725"^^xsd:string) AnnotationAssertion( "GARD:10469"^^xsd:string) AnnotationAssertion( "MESH:C563505"^^xsd:string) AnnotationAssertion( "MESH:C564616"^^xsd:string) AnnotationAssertion( "MESH:C565866"^^xsd:string) AnnotationAssertion( "MIM:607136"^^xsd:string) AnnotationAssertion( "MONDO:0011781"^^xsd:string) AnnotationAssertion( "NCI:C179861"^^xsd:string) AnnotationAssertion( "ORDO:98759"^^xsd:string) AnnotationAssertion( "CPD2"^^xsd:string) AnnotationAssertion( "Cpd, Late-Onset Recessive Type"^^xsd:string) AnnotationAssertion( "HDL4"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like 4"^^xsd:string) AnnotationAssertion( "Huntington's Disease-Like 4"^^xsd:string) AnnotationAssertion( "OPCA with dementia and extrapyramidal signs"^^xsd:string) AnnotationAssertion( "OPCA5"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar Atrophy V"^^xsd:string) AnnotationAssertion( "SCA17"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder II"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050967"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 17"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant cerebellar ataxia, deafness and narcolepsy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604121"^^xsd:string) AnnotationAssertion( "GARD:12372"^^xsd:string) AnnotationAssertion( "MESH:C565825"^^xsd:string) AnnotationAssertion( "ADCADN"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, deafness, and narcolepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050968"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cerebellar ataxia, deafness and narcolepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 18) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607458"^^xsd:string) AnnotationAssertion( "RDO:0002986"^^xsd:string) AnnotationAssertion( "GARD:9976"^^xsd:string) AnnotationAssertion( "MESH:C537197"^^xsd:string) AnnotationAssertion( "SCA18"^^xsd:string) AnnotationAssertion( "SMNA"^^xsd:string) AnnotationAssertion( "Sensorimotor Neuropathy with Ataxia, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050969"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 18"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 19/22) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12365"^^xsd:string) AnnotationAssertion( "MESH:C537198"^^xsd:string) AnnotationAssertion( "MESH:C542540"^^xsd:string) AnnotationAssertion( "MIM:607346"^^xsd:string) AnnotationAssertion( "MONDO:0011819"^^xsd:string) AnnotationAssertion( "NCI:C163756"^^xsd:string) AnnotationAssertion( "ORDO:98772"^^xsd:string) AnnotationAssertion( "SCA19"^^xsd:string) AnnotationAssertion( "SCA22"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 19"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050970"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 19/22"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 20) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608687"^^xsd:string) AnnotationAssertion( "GARD:9997"^^xsd:string) AnnotationAssertion( "MESH:C537199"^^xsd:string) AnnotationAssertion( "RDO:0002988"^^xsd:string) AnnotationAssertion( "CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB"^^xsd:string) AnnotationAssertion( "SCA20"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia With Dysphonia"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia With Spasmodic Cough"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050971"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 20"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 21) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607454"^^xsd:string) AnnotationAssertion( "GARD:9999"^^xsd:string) AnnotationAssertion( "MESH:C537200"^^xsd:string) AnnotationAssertion( "RDO:0002989"^^xsd:string) AnnotationAssertion( "SCA21"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 21"^^xsd:string) AnnotationAssertion( "TMEM240-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050972"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 21"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 23) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23"^^xsd:string) "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610245"^^xsd:string) AnnotationAssertion( "RDO:0002990"^^xsd:string) AnnotationAssertion( "MESH:C537201"^^xsd:string) AnnotationAssertion( "PDYN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA23"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050973"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 23"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 25) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608703"^^xsd:string) AnnotationAssertion( "GARD:9996"^^xsd:string) AnnotationAssertion( "MESH:C537202"^^xsd:string) AnnotationAssertion( "SCA25"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050974"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 25"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 26) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. (DO)"^^xsd:string) AnnotationAssertion( "EEF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9995"^^xsd:string) AnnotationAssertion( "MESH:C537203"^^xsd:string) AnnotationAssertion( "MIM:609306"^^xsd:string) AnnotationAssertion( "MONDO:0012246"^^xsd:string) AnnotationAssertion( "SCA26"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050975"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 26"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 27) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111794"^^xsd:string) AnnotationAssertion( "MESH:C537856"^^xsd:string) AnnotationAssertion( "GARD:9603"^^xsd:string) AnnotationAssertion( "MESH:C537204"^^xsd:string) AnnotationAssertion( "FGF14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NYS4"^^xsd:string) AnnotationAssertion( "SCA27"^^xsd:string) AnnotationAssertion( "autosomal dominant cerebellar ataxia, FGF14-related"^^xsd:string) AnnotationAssertion( "congenital nystagmus 4"^^xsd:string) AnnotationAssertion( "congenital nystagmus 4, autosomal dominant"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 27"^^xsd:string) AnnotationAssertion( "vestibulocerebellar disorder with predominant ocular signs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050976"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 28) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610246"^^xsd:string) AnnotationAssertion( "MESH:C537205"^^xsd:string) AnnotationAssertion( "SCA28"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050977"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 28"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 29) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:117360"^^xsd:string) AnnotationAssertion( "ITPR1-related syndromic and non-syndromic hereditary ataxia"^^xsd:string) AnnotationAssertion( "MESH:C537206"^^xsd:string) AnnotationAssertion( "ACV"^^xsd:string) AnnotationAssertion( "CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "CNPCA"^^xsd:string) AnnotationAssertion( "SCA29"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia 29, congenital nonprogressive"^^xsd:string) AnnotationAssertion( "aplasia of cerebellar vermis"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, early-onset, nonprogressive"^^xsd:string) AnnotationAssertion( "cerebellar vermis aplasia"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050978"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 29"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 30) AnnotationAssertion(Annotation( "MIM:613371"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613371"^^xsd:string) AnnotationAssertion( "GARD:4950"^^xsd:string) AnnotationAssertion( "MESH:C575214"^^xsd:string) AnnotationAssertion( "RDO:0015780"^^xsd:string) AnnotationAssertion( "SCA30"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050979"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 30"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 31) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566146"^^xsd:string) AnnotationAssertion( "MIM:117210"^^xsd:string) AnnotationAssertion( "MONDO:0007296"^^xsd:string) AnnotationAssertion( "NCI:C176901"^^xsd:string) AnnotationAssertion( "ORDO:217012"^^xsd:string) AnnotationAssertion( "BEAN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA31"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 31"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, 16q22-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050980"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 31"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 34) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005475"^^xsd:string) AnnotationAssertion( "MIM:133190"^^xsd:string) AnnotationAssertion( "MESH:C535738"^^xsd:string) AnnotationAssertion( "Giroux Barbeau syndrome"^^xsd:string) AnnotationAssertion( "erythrokeratodermia - ataxia"^^xsd:string) AnnotationAssertion( "erythrokeratodermia with ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050981"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 35) AnnotationAssertion(Annotation( "MIM:613908"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613908"^^xsd:string) AnnotationAssertion( "SCA35"^^xsd:string) AnnotationAssertion( "TGM6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050982"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 35"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 36) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614153"^^xsd:string) AnnotationAssertion( "NCI:C148316"^^xsd:string) AnnotationAssertion( "SCA36"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050983"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 36"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 37) AnnotationAssertion(Annotation( "MIM:615945"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615945"^^xsd:string) AnnotationAssertion( "DAB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA37"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050984"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 37"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 38) AnnotationAssertion(Annotation( "MIM:615957"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009056"^^xsd:string) AnnotationAssertion( "MIM:615957"^^xsd:string) AnnotationAssertion( "MONDO:0014417"^^xsd:string) AnnotationAssertion( "ELOVL5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA38"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050985"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 38"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 40) AnnotationAssertion(Annotation( "MIM:616053"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "CCDC88C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009057"^^xsd:string) AnnotationAssertion( "MIM:616053"^^xsd:string) AnnotationAssertion( "SCA40"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050986"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 40"^^xsd:string) SubClassOf( ) # Class: (hypomyelinating leukoencephalopathy) AnnotationAssertion(Annotation( "PMID:22232354"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050987"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GRID2-related spinocerebellar ataxia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO)"^^xsd:string) AnnotationAssertion( "GRID2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050988"^^xsd:string) AnnotationAssertion(rdfs:label "GRID2-related spinocerebellar ataxia"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 1) AnnotationAssertion(Annotation( "MIM:160120"^^xsd:string) "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160120"^^xsd:string) AnnotationAssertion( "MESH:C563278"^^xsd:string) AnnotationAssertion( "AEM"^^xsd:string) AnnotationAssertion( "AEMK"^^xsd:string) AnnotationAssertion( "EA1"^^xsd:string) AnnotationAssertion( "EAM"^^xsd:string) AnnotationAssertion( "episodic ataxia with myokymia"^^xsd:string) AnnotationAssertion( "hereditary paroxysmal ataxia with neuromyotonia"^^xsd:string) AnnotationAssertion( "myokymia with periodic ataxia"^^xsd:string) AnnotationAssertion( "ISAACS-MERTENS SYNDROME"^^xsd:string) AnnotationAssertion( "MYOKYMIA 1 WITH HYPOMAGNESEMIA"^^xsd:string) AnnotationAssertion( "MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA"^^xsd:string) AnnotationAssertion( "hereditary continuous muscle fiber activity"^^xsd:string) AnnotationAssertion( "myokymia with periodic ataxia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050989"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 2) AnnotationAssertion(Annotation( "MIM:108500"^^xsd:string) "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108500"^^xsd:string) AnnotationAssertion( "MESH:C535506"^^xsd:string) AnnotationAssertion( "NCI:C202603"^^xsd:string) AnnotationAssertion( "APCA"^^xsd:string) AnnotationAssertion( "Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "Ataxia, Familial Paroxysmal"^^xsd:string) AnnotationAssertion( "CAPA"^^xsd:string) AnnotationAssertion( "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive"^^xsd:string) AnnotationAssertion( "Cerebellopathy, hereditary paroxysmal"^^xsd:string) AnnotationAssertion( "EA2"^^xsd:string) AnnotationAssertion( "Episodic ataxia with nystagmus"^^xsd:string) AnnotationAssertion( "acetazolamide-responsive episodic ataxia syndrome"^^xsd:string) AnnotationAssertion( "nystagmus-associated episodic ataxia"^^xsd:string) AnnotationAssertion( "EPISODIC ATAXIA, TYPE 2, AND EPILEPSY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050990"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 3) AnnotationAssertion(Annotation( "MIM:606554"^^xsd:string) "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606554"^^xsd:string) AnnotationAssertion( "RDO:0013568"^^xsd:string) AnnotationAssertion( "MESH:C564697"^^xsd:string) AnnotationAssertion( "EA3"^^xsd:string) AnnotationAssertion( "episodic ataxia with vertigo and tinnitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050991"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 4) AnnotationAssertion(Annotation( "MIM:606552"^^xsd:string) "An episodic ataxia that is characterized by vertigo and diplopia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606552"^^xsd:string) AnnotationAssertion( "MESH:C564698"^^xsd:string) AnnotationAssertion( "Periodic Vestibulocerebellar Ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050992"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 4"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 5) AnnotationAssertion(Annotation( "MIM:613855"^^xsd:string) "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613855"^^xsd:string) AnnotationAssertion( "CACNB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566601"^^xsd:string) AnnotationAssertion( "EA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050993"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 6) AnnotationAssertion(Annotation( "MIM:612656"^^xsd:string) "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612656"^^xsd:string) AnnotationAssertion( "MESH:C567207"^^xsd:string) AnnotationAssertion( "EA6"^^xsd:string) AnnotationAssertion( "SLC1A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050994"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 7) AnnotationAssertion(Annotation( "MIM:611907"^^xsd:string) "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611907"^^xsd:string) AnnotationAssertion( "MESH:C567459"^^xsd:string) AnnotationAssertion( "EA7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050995"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 7"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 8) AnnotationAssertion(Annotation( "MIM:616055"^^xsd:string) "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616055"^^xsd:string) AnnotationAssertion( "MONDO:0014476"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050996"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 8"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome) AnnotationAssertion(Annotation( "PMID:21885617"^^xsd:string) Annotation( "PMID:28013290"^^xsd:string) Annotation( "PMID:33981800"^^xsd:string) Annotation( "PMID:38109455"^^xsd:string) Annotation( "PMID:38581205"^^xsd:string) "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1998"^^xsd:string) AnnotationAssertion( "MESH:C535731"^^xsd:string) AnnotationAssertion( "MIM:PS224050"^^xsd:string) AnnotationAssertion( "MONDO:0009133"^^xsd:string) AnnotationAssertion( "OMIA:001947"^^xsd:string) AnnotationAssertion( "ORDO:1766"^^xsd:string) AnnotationAssertion( "CAMRQ"^^xsd:string) AnnotationAssertion( "CAMRQ syndrome"^^xsd:string) AnnotationAssertion( "DES"^^xsd:string) AnnotationAssertion( "UTS"^^xsd:string) AnnotationAssertion( "Uner Tan syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar ataxia with mental retardation"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar hypoplasia with cerebral gyral simplification"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and mental retardation with or without quadrupedal locomotion"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, mental retardation and dysequlibrium syndrome"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, mental retardation, and disequilibrium syndrome"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, mental retardation, and dysequilibrium syndrome"^^xsd:string) AnnotationAssertion( "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion"^^xsd:string) AnnotationAssertion( "congenital cerebellar ataxia and mental retardation, autosomal recessive"^^xsd:string) AnnotationAssertion( "dysequilibrium syndrome"^^xsd:string) AnnotationAssertion( "nonprogressive cerebellar disorder with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "disequilibrium syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050997"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonprogressive cerebellar ataxia with mental retardation) AnnotationAssertion(Annotation( "MIM:614756"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614756"^^xsd:string) AnnotationAssertion( "CAMTA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CANPMR"^^xsd:string) AnnotationAssertion( "CECBA"^^xsd:string) AnnotationAssertion( "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES"^^xsd:string) AnnotationAssertion( "NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050998"^^xsd:string) AnnotationAssertion(rdfs:label "nonprogressive cerebellar ataxia with mental retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 10) AnnotationAssertion(Annotation( "MIM:613728"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613728"^^xsd:string) AnnotationAssertion( "MONDO:0013392"^^xsd:string) AnnotationAssertion( "ANO10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCAR10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050999"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 10"^^xsd:string) SubClassOf( ) # Class: (autoinflammatory disease) AnnotationAssertion(Annotation( "https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/"^^xsd:string) "A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-11-27T18:10:52Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051000"^^xsd:string) AnnotationAssertion(rdfs:label "autoinflammatory disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type IIIb) AnnotationAssertion(Annotation( "PMID:36200420"^^xsd:string) "A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T09:44:15Z"^^xsd:string) AnnotationAssertion( "DOID:9002225"^^xsd:string) AnnotationAssertion( "MIM:619789"^^xsd:string) AnnotationAssertion( "MONDO:00030711"^^xsd:string) AnnotationAssertion( "CDA type IIIb"^^xsd:string) AnnotationAssertion( "CDAN3B"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia type IIIb, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051001"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type IIIb"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type IVb) AnnotationAssertion(Annotation( "PMID:25724378"^^xsd:string) "A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T09:48:22Z"^^xsd:string) AnnotationAssertion( "MIM:620969"^^xsd:string) AnnotationAssertion( "CDA, type IVb"^^xsd:string) AnnotationAssertion( "CDAN4B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051002"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type IVb"^^xsd:string) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 1) AnnotationAssertion(Annotation( "PMID:18177777"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T09:53:53Z"^^xsd:string) AnnotationAssertion( "MIM:300908"^^xsd:string) AnnotationAssertion( "CNSHA1"^^xsd:string) AnnotationAssertion( "congenital nonspherocytic hemolytic anemia-1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051003"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 3) AnnotationAssertion(Annotation( "PMID:10233365"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:01:12Z"^^xsd:string) AnnotationAssertion( "DOID:9005319"^^xsd:string) AnnotationAssertion( "MESH:C567228"^^xsd:string) AnnotationAssertion( "MIM:612631"^^xsd:string) AnnotationAssertion( "MONDO:0012967"^^xsd:string) AnnotationAssertion( "ORDO:86817"^^xsd:string) AnnotationAssertion( "ADENYLATE KINASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "CNSHA3"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Adenylate Kinase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051004"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 4) AnnotationAssertion(Annotation( "PMID:8218542"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:04:18Z"^^xsd:string) AnnotationAssertion( "DOID:9005912"^^xsd:string) AnnotationAssertion( "MIM:613470"^^xsd:string) AnnotationAssertion( "MONDO:0013275"^^xsd:string) AnnotationAssertion( "CNSHA4"^^xsd:string) AnnotationAssertion( "DISORDER OF GLYCOLYSIS"^^xsd:string) AnnotationAssertion( "GPI-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency"^^xsd:string) AnnotationAssertion( "HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051005"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 5) AnnotationAssertion(Annotation( "PMID:12393545"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:06:18Z"^^xsd:string) AnnotationAssertion( "DOID:9006276"^^xsd:string) AnnotationAssertion( "MIM:235700"^^xsd:string) AnnotationAssertion( "MONDO:0009340"^^xsd:string) AnnotationAssertion( "CNSHA5"^^xsd:string) AnnotationAssertion( "Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051006"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 8) AnnotationAssertion(Annotation( "PMID:11369620"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:08:01Z"^^xsd:string) AnnotationAssertion( "DOID:9004820"^^xsd:string) AnnotationAssertion( "MESH:C564859"^^xsd:string) AnnotationAssertion( "MIM:266120"^^xsd:string) AnnotationAssertion( "MONDO:0009946"^^xsd:string) AnnotationAssertion( "CNSHA8"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to P5N Deficiency"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Pyrimidine 5-Prime Nucleotidase Deficiency"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to UMPH1 Deficiency"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency"^^xsd:string) AnnotationAssertion( "P5N Deficiency"^^xsd:string) AnnotationAssertion( "UMPH1 Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051007"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 9) AnnotationAssertion(Annotation( "PMID:35030251"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:09:53Z"^^xsd:string) AnnotationAssertion( "DOID:9001937"^^xsd:string) AnnotationAssertion( "MESH:C566314"^^xsd:string) AnnotationAssertion( "MIM:301083"^^xsd:string) AnnotationAssertion( "MONDO:0020458"^^xsd:string) AnnotationAssertion( "CNSHA9"^^xsd:string) AnnotationAssertion( "HAEADA"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Elevated Adenosine Deaminase"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Elevated Erythrocyte ADA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051008"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia 10) AnnotationAssertion(Annotation( "PMID:17185460"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:11:33Z"^^xsd:string) AnnotationAssertion( "DOID:9007213"^^xsd:string) AnnotationAssertion( "GSR-related condition"^^xsd:string) AnnotationAssertion( "MESH:C564218"^^xsd:string) AnnotationAssertion( "MIM:618660"^^xsd:string) AnnotationAssertion( "MONDO:0019531"^^xsd:string) AnnotationAssertion( "ORDO:90030"^^xsd:string) AnnotationAssertion( "CNSHA10"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Deficiency of Glutathione Reductase, in Red Cells"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Glutathione Reductase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051009"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia 10"^^xsd:string) SubClassOf( ) # Class: (Bryant-Li-Bhoj neurodevelopmental syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK595206/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:48:52Z"^^xsd:string) AnnotationAssertion( "DOID:9002771"^^xsd:string) AnnotationAssertion( "MIM:PS619720"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051010"^^xsd:string) AnnotationAssertion(rdfs:label "Bryant-Li-Bhoj neurodevelopmental syndrome"^^xsd:string) SubClassOf( ) # Class: (Bryant-Li-Bhoj neurodevelopmental syndrome 1) AnnotationAssertion(Annotation( "PMID:38678163"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK595206/"^^xsd:string) "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:49:05Z"^^xsd:string) AnnotationAssertion( "DOID:9001391"^^xsd:string) AnnotationAssertion( "H3-3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "H3F3A-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:619720"^^xsd:string) AnnotationAssertion( "BRYLIB1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051011"^^xsd:string) AnnotationAssertion(rdfs:label "Bryant-Li-Bhoj neurodevelopmental syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Bryant-Li-Bhoj neurodevelopmental syndrome 2) AnnotationAssertion(Annotation( "PMID:38678163"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK595206/"^^xsd:string) "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:49:17Z"^^xsd:string) AnnotationAssertion( "DOID:9000402"^^xsd:string) AnnotationAssertion( "H3-3B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619721"^^xsd:string) AnnotationAssertion( "BRYLIB2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051012"^^xsd:string) AnnotationAssertion(rdfs:label "Bryant-Li-Bhoj neurodevelopmental syndrome 2"^^xsd:string) SubClassOf( ) # Class: (pseudohypoparathyroidism type 1C) AnnotationAssertion(Annotation( "PMID:18372789"^^xsd:string) "A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-12-19T10:54:30Z"^^xsd:string) AnnotationAssertion( "DOID:9000882"^^xsd:string) AnnotationAssertion( "GARD:10681"^^xsd:string) AnnotationAssertion( "MESH:C548076"^^xsd:string) AnnotationAssertion( "MIM:612462"^^xsd:string) AnnotationAssertion( "MONDO:0012911"^^xsd:string) AnnotationAssertion( "ORDO:79444"^^xsd:string) AnnotationAssertion( "PHP IC"^^xsd:string) AnnotationAssertion( "PHP1C"^^xsd:string) AnnotationAssertion( "Pseudohypoparathyroidism Type IC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051013"^^xsd:string) AnnotationAssertion(rdfs:label "pseudohypoparathyroidism type 1C"^^xsd:string) SubClassOf( ) # Class: (atypical autosomal dominant adult-onset demyelinating leukodystrophy) AnnotationAssertion(Annotation( "PMID:39078102"^^xsd:string) "An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:10:08Z"^^xsd:string) AnnotationAssertion( "DOID:9009281"^^xsd:string) AnnotationAssertion( "MIM:621061"^^xsd:string) AnnotationAssertion( "ADLDAT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051014"^^xsd:string) AnnotationAssertion(rdfs:label "atypical autosomal dominant adult-onset demyelinating leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult onset demyelinating leukodystrophy) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/"^^xsd:string) "A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:13:16Z"^^xsd:string) AnnotationAssertion( "MIM:PS169500"^^xsd:string) AnnotationAssertion( "ORDO:99027"^^xsd:string) AnnotationAssertion( "autosomal dominant adult-onset demyelinating leukodystrophy"^^xsd:string) AnnotationAssertion( "autosomal dominant leukodystrophy with autonomic disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051015"^^xsd:string) AnnotationAssertion(rdfs:label "adult onset demyelinating leukodystrophy"^^xsd:string) SubClassOf( ) # Class: (visceral heterotaxy 1) AnnotationAssertion(Annotation( "PMID:18456715"^^xsd:string) "A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:17:35Z"^^xsd:string) AnnotationAssertion( "DOID:9003587"^^xsd:string) AnnotationAssertion( "visceral heterotaxia"^^xsd:string) AnnotationAssertion( "EFO:0009136"^^xsd:string) AnnotationAssertion( "MESH:C538116"^^xsd:string) AnnotationAssertion( "MIM:306955"^^xsd:string) AnnotationAssertion( "MONDO:0010607"^^xsd:string) AnnotationAssertion( "Congenital Heart Defects, Multiple Types, 1, X-Linked"^^xsd:string) AnnotationAssertion( "HTX1"^^xsd:string) AnnotationAssertion( "Heterotaxy, Visceral, 1, X-Linked"^^xsd:string) AnnotationAssertion( "Heterotaxy, Visceral, X-Linked"^^xsd:string) AnnotationAssertion( "Laterality, X-linked"^^xsd:string) AnnotationAssertion( "dextrocardia with other cardiac malformations"^^xsd:string) AnnotationAssertion( "situs inversus, complex cardiac defects, and splenic defects, X-linked"^^xsd:string) AnnotationAssertion( "CHTD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051016"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 2) AnnotationAssertion(Annotation( "PMID:11062482"^^xsd:string) "A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:21:45Z"^^xsd:string) AnnotationAssertion( "DOID:9002143"^^xsd:string) AnnotationAssertion( "MIM:605376"^^xsd:string) AnnotationAssertion( "MONDO:0011546"^^xsd:string) AnnotationAssertion( "HTX2"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 2, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051017"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 3) AnnotationAssertion(Annotation( "PMID:11562933"^^xsd:string) "A visceral heterotaxy that has been mapped to chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:27:15Z"^^xsd:string) AnnotationAssertion( "DOID:9004505"^^xsd:string) AnnotationAssertion( "MESH:C565237"^^xsd:string) AnnotationAssertion( "MIM:606325"^^xsd:string) AnnotationAssertion( "MONDO:0011659"^^xsd:string) AnnotationAssertion( "HTX3"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 3, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051018"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 3"^^xsd:string) SubClassOf( ) # Class: (visceral heterotaxy 4) AnnotationAssertion(Annotation( "PMID:9916847"^^xsd:string) "A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:27:26Z"^^xsd:string) AnnotationAssertion( "DOID:9008496"^^xsd:string) AnnotationAssertion( "ACVR2B-related condition"^^xsd:string) AnnotationAssertion( "MIM:613751"^^xsd:string) AnnotationAssertion( "MONDO:0013403"^^xsd:string) AnnotationAssertion( "HTX4"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 4, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051019"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 4"^^xsd:string) SubClassOf( ) # Class: (visceral heterotaxy 6) AnnotationAssertion(Annotation( "PMID:22577226"^^xsd:string) "A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:27:45Z"^^xsd:string) AnnotationAssertion( "DOID:9003212"^^xsd:string) AnnotationAssertion( "CFAP53-related condition"^^xsd:string) AnnotationAssertion( "MIM:614779"^^xsd:string) AnnotationAssertion( "MONDO:0013887"^^xsd:string) AnnotationAssertion( "HTX6"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 6, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051020"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 7) AnnotationAssertion(Annotation( "PMID:26437028"^^xsd:string) "A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:27:58Z"^^xsd:string) AnnotationAssertion( "DOID:9008364"^^xsd:string) AnnotationAssertion( "MMP21-related condition"^^xsd:string) AnnotationAssertion( "MIM:616749"^^xsd:string) AnnotationAssertion( "MONDO:0014762"^^xsd:string) AnnotationAssertion( "HTX7"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 7, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051021"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 8) AnnotationAssertion(Annotation( "PMID:27616478"^^xsd:string) "A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:28:10Z"^^xsd:string) AnnotationAssertion( "DOID:9007421"^^xsd:string) AnnotationAssertion( "PKD1L1-related condition"^^xsd:string) AnnotationAssertion( "MIM:617205"^^xsd:string) AnnotationAssertion( "MONDO:0014967"^^xsd:string) AnnotationAssertion( "HTX8"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 8, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051022"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 9) AnnotationAssertion(Annotation( "PMID:31534215"^^xsd:string) "A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:28:24Z"^^xsd:string) AnnotationAssertion( "DOID:9003544"^^xsd:string) AnnotationAssertion( "MNS1-related condition"^^xsd:string) AnnotationAssertion( "MIM:618948"^^xsd:string) AnnotationAssertion( "MONDO:0030070"^^xsd:string) AnnotationAssertion( "HTX9"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 9, Autosomal"^^xsd:string) AnnotationAssertion( "autosomal visceral heterotaxy-9 with male infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051023"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 10) AnnotationAssertion(Annotation( "PMID:33139725"^^xsd:string) "A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:40:20Z"^^xsd:string) AnnotationAssertion( "DOID:9008028"^^xsd:string) AnnotationAssertion( "CFAP52-related condition"^^xsd:string) AnnotationAssertion( "MIM:619607"^^xsd:string) AnnotationAssertion( "MONDO:0030474"^^xsd:string) AnnotationAssertion( "HTX10"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 10, Autosomal"^^xsd:string) AnnotationAssertion( "autosomal visceral heterotaxy 10 with male infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051024"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 11) AnnotationAssertion(Annotation( "PMID:33139725"^^xsd:string) "A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:40:30Z"^^xsd:string) AnnotationAssertion( "DOID:9002158"^^xsd:string) AnnotationAssertion( "MIM:619608"^^xsd:string) AnnotationAssertion( "MONDO:0030475"^^xsd:string) AnnotationAssertion( "HTX11"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 11, Autosomal"^^xsd:string) AnnotationAssertion( "autosomal visceral heterotaxy 11 with male infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051025"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 12) AnnotationAssertion(Annotation( "PMID:33139725"^^xsd:string) "A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:40:41Z"^^xsd:string) AnnotationAssertion( "DOID:9004727"^^xsd:string) AnnotationAssertion( "CIROP-related condition"^^xsd:string) AnnotationAssertion( "MIM:619702"^^xsd:string) AnnotationAssertion( "MONDO:0859222"^^xsd:string) AnnotationAssertion( "HTX12"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 12, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051026"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visceral heterotaxy 13) AnnotationAssertion(Annotation( "PMID:36316122"^^xsd:string) "A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:40:54Z"^^xsd:string) AnnotationAssertion( "DOID:9009284"^^xsd:string) AnnotationAssertion( "MIM:621079"^^xsd:string) AnnotationAssertion( "HTX13"^^xsd:string) AnnotationAssertion( "Visceral Heterotaxy 13, Autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051027"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis) AnnotationAssertion(Annotation( "PMID:15358725"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:46:41Z"^^xsd:string) AnnotationAssertion( "DOID:9003332"^^xsd:string) AnnotationAssertion( "MESH:C539595"^^xsd:string) AnnotationAssertion( "MIM:607706"^^xsd:string) AnnotationAssertion( "MONDO:0011898"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH WITH VOCAL CORD PARESIS"^^xsd:string) AnnotationAssertion( "CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease Type 4A, Axonal Form"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive"^^xsd:string) AnnotationAssertion( "NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051028"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome-21) AnnotationAssertion(Annotation( "PMID:39230499"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:48:57Z"^^xsd:string) AnnotationAssertion( "DOID:9009283"^^xsd:string) AnnotationAssertion( "MIM:621071"^^xsd:string) AnnotationAssertion( "MTDPS21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051029"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome-21"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with microcephaly, absent speech, and hypotonia) AnnotationAssertion(Annotation( "PMID:39306721"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:51:36Z"^^xsd:string) AnnotationAssertion( "DOID:9009282"^^xsd:string) AnnotationAssertion( "MIM:621060"^^xsd:string) AnnotationAssertion( "NEDMISH"^^xsd:string) AnnotationAssertion( "Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051030"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 20) AnnotationAssertion(Annotation( "PMID:29343805"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:54:19Z"^^xsd:string) AnnotationAssertion( "DOID:9009149"^^xsd:string) AnnotationAssertion( "KIF14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617914"^^xsd:string) AnnotationAssertion( "MCPH20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051031"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 20"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 21) AnnotationAssertion(Annotation( "PMID:35568357"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:57:01Z"^^xsd:string) AnnotationAssertion( "DOID:9009171"^^xsd:string) AnnotationAssertion( "NCAPD2-related condition"^^xsd:string) AnnotationAssertion( "MIM:617983"^^xsd:string) AnnotationAssertion( "MONDO:0054804"^^xsd:string) AnnotationAssertion( "MCPH21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051032"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 21"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 22) AnnotationAssertion(Annotation( "PMID:27737959"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:57:13Z"^^xsd:string) AnnotationAssertion( "DOID:9009172"^^xsd:string) AnnotationAssertion( "NCAPD3-related condition"^^xsd:string) AnnotationAssertion( "MIM:617984"^^xsd:string) AnnotationAssertion( "MCPH22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051033"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 22"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 23) AnnotationAssertion(Annotation( "PMID:27737959"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:57:27Z"^^xsd:string) AnnotationAssertion( "DOID:9002582"^^xsd:string) AnnotationAssertion( "NCAPH-related condition"^^xsd:string) AnnotationAssertion( "MIM:617985"^^xsd:string) AnnotationAssertion( "MCPH23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051034"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 23"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 24) AnnotationAssertion(Annotation( "PMID:30179222"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:57:40Z"^^xsd:string) AnnotationAssertion( "DOID:9009243"^^xsd:string) AnnotationAssertion( "NUP37-related condition"^^xsd:string) AnnotationAssertion( "MIM:618179"^^xsd:string) AnnotationAssertion( "MCPH24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051035"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 24"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 25) AnnotationAssertion(Annotation( "PMID:30715179"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:57:52Z"^^xsd:string) AnnotationAssertion( "DOID:9003084"^^xsd:string) AnnotationAssertion( "TRAPPC14-related condition"^^xsd:string) AnnotationAssertion( "MIM:618351"^^xsd:string) AnnotationAssertion( "MCPH25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051036"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 25"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant primary microcephaly 26) AnnotationAssertion(Annotation( "PMID:32910914"^^xsd:string) "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:58:03Z"^^xsd:string) AnnotationAssertion( "DOID:9006542"^^xsd:string) AnnotationAssertion( "LMNB1-related condition"^^xsd:string) AnnotationAssertion( "MIM:619179"^^xsd:string) AnnotationAssertion( "MONDO:0030928"^^xsd:string) AnnotationAssertion( "LMNB1-RELATED PRIMARY MICROCEPHALY"^^xsd:string) AnnotationAssertion( "MCPH26"^^xsd:string) AnnotationAssertion( "MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "primary autosomal dominant microcephaly 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051037"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant primary microcephaly 26"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant primary microcephaly 27) AnnotationAssertion(Annotation( "PMID:33033404"^^xsd:string) "A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T17:58:15Z"^^xsd:string) AnnotationAssertion( "DOID:9002951"^^xsd:string) AnnotationAssertion( "MIM:619180"^^xsd:string) AnnotationAssertion( "MONDO:0030929"^^xsd:string) AnnotationAssertion( "MCPH27"^^xsd:string) AnnotationAssertion( "MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "primary autosomal dominant microcephaly 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051038"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant primary microcephaly 27"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 28) AnnotationAssertion(Annotation( "PMID:33199730"^^xsd:string) "A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T18:19:53Z"^^xsd:string) AnnotationAssertion( "DOID:9007625"^^xsd:string) AnnotationAssertion( "MIM:619453"^^xsd:string) AnnotationAssertion( "MCPH28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051039"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 28"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 29) AnnotationAssertion(Annotation( "PMID:32286682"^^xsd:string) "A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T18:20:11Z"^^xsd:string) AnnotationAssertion( "DOID:9003562"^^xsd:string) AnnotationAssertion( "MIM:620047"^^xsd:string) AnnotationAssertion( "MCPH29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051040"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 29"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 30) AnnotationAssertion(Annotation( "PMID:35044816"^^xsd:string) "A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-01-31T18:20:23Z"^^xsd:string) AnnotationAssertion( "DOID:9001690"^^xsd:string) AnnotationAssertion( "BUB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620183"^^xsd:string) AnnotationAssertion( "MONDO:0859342"^^xsd:string) AnnotationAssertion( "MCPH30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051041"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 30"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 15) AnnotationAssertion(Annotation( "PMID:37907725"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:31:43Z"^^xsd:string) AnnotationAssertion( "DOID:9009289"^^xsd:string) AnnotationAssertion( "MIM:621094"^^xsd:string) AnnotationAssertion( "HMND15"^^xsd:string) AnnotationAssertion( "NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051042"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 15"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2JJ) AnnotationAssertion(Annotation( "PMID:31853710"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:34:02Z"^^xsd:string) AnnotationAssertion( "DOID:9009288"^^xsd:string) AnnotationAssertion( "MIM:621095"^^xsd:string) AnnotationAssertion( "CMT2JJ"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2JJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051043"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2JJ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infantile-onset myofibrillar myopathy 12 with cardiomyopathy) AnnotationAssertion(Annotation( "PMID:23365102"^^xsd:string) "A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:36:06Z"^^xsd:string) AnnotationAssertion( "DOID:9003320"^^xsd:string) AnnotationAssertion( "MIM:619424"^^xsd:string) AnnotationAssertion( "MONDO:0859168"^^xsd:string) AnnotationAssertion( "MFM12"^^xsd:string) AnnotationAssertion( "Myofibrillar Myopathy 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051044"^^xsd:string) AnnotationAssertion(rdfs:label "infantile-onset myofibrillar myopathy 12 with cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 13 with rimmed vacuoles) AnnotationAssertion(Annotation( "PMID:31403083"^^xsd:string) "A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:40:46Z"^^xsd:string) AnnotationAssertion( "DOID:9009287"^^xsd:string) AnnotationAssertion( "MIM:621078"^^xsd:string) AnnotationAssertion( "MFM13"^^xsd:string) AnnotationAssertion( "Myofibrillar Myopathy 13"^^xsd:string) AnnotationAssertion( "rimmed vacuolar myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051045"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 13 with rimmed vacuoles"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Li-Shao-Li type) AnnotationAssertion(Annotation( "PMID:39414788"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:42:45Z"^^xsd:string) AnnotationAssertion( "DOID:9009290"^^xsd:string) AnnotationAssertion( "MIM:621099"^^xsd:string) AnnotationAssertion( "SEMDLSL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051046"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Li-Shao-Li type"^^xsd:string) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIbb) AnnotationAssertion(Annotation( "PMID:37711075"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:44:10Z"^^xsd:string) AnnotationAssertion( "DOID:9006729"^^xsd:string) AnnotationAssertion( "MIM:620546"^^xsd:string) AnnotationAssertion( "MONDO:0957820"^^xsd:string) AnnotationAssertion( "CDG IIbb"^^xsd:string) AnnotationAssertion( "CDG2BB"^^xsd:string) AnnotationAssertion( "CDGIIBB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051047"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIbb"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIr) AnnotationAssertion(Annotation( "PMID:29127204"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:46:12Z"^^xsd:string) AnnotationAssertion( "DOID:9000744"^^xsd:string) AnnotationAssertion( "MIM:301045"^^xsd:string) AnnotationAssertion( "MONDO:0026765"^^xsd:string) AnnotationAssertion( "CDG IIr"^^xsd:string) AnnotationAssertion( "CDG2R"^^xsd:string) AnnotationAssertion( "CDGIIR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051048"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIr"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIt) AnnotationAssertion(Annotation( "PMID:32293671"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:48:15Z"^^xsd:string) AnnotationAssertion( "DOID:9000346"^^xsd:string) AnnotationAssertion( "GALNT2-related condition"^^xsd:string) AnnotationAssertion( "MIM:618885"^^xsd:string) AnnotationAssertion( "MONDO:0030043"^^xsd:string) AnnotationAssertion( "CDG IIt"^^xsd:string) AnnotationAssertion( "CDG2T"^^xsd:string) AnnotationAssertion( "CDGIIt"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051049"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIt"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIv) AnnotationAssertion(Annotation( "PMID:34143952"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:50:01Z"^^xsd:string) AnnotationAssertion( "DOID:9005531"^^xsd:string) AnnotationAssertion( "MIM:619493"^^xsd:string) AnnotationAssertion( "MONDO:0030423"^^xsd:string) AnnotationAssertion( "CDG2V"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type 2V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051050"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIv"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIw) AnnotationAssertion(Annotation( "PMID:33964207"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:51:59Z"^^xsd:string) AnnotationAssertion( "DOID:9002132"^^xsd:string) AnnotationAssertion( "MIM:619525"^^xsd:string) AnnotationAssertion( "MONDO:0030437"^^xsd:string) AnnotationAssertion( "CDG2W"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051051"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIw"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIy) AnnotationAssertion(Annotation( "PMID:32395830"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:54:03Z"^^xsd:string) AnnotationAssertion( "DOID:9007056"^^xsd:string) AnnotationAssertion( "MIM:620200"^^xsd:string) AnnotationAssertion( "MONDO:0859356"^^xsd:string) AnnotationAssertion( "CDG IIy"^^xsd:string) AnnotationAssertion( "CDG2Y"^^xsd:string) AnnotationAssertion( "CDGIIY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051052"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIz) AnnotationAssertion(Annotation( "PMID:35262690"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:55:37Z"^^xsd:string) AnnotationAssertion( "DOID:9004511"^^xsd:string) AnnotationAssertion( "MIM:620201"^^xsd:string) AnnotationAssertion( "MONDO:0859357"^^xsd:string) AnnotationAssertion( "CDG IIz"^^xsd:string) AnnotationAssertion( "CDG2Z"^^xsd:string) AnnotationAssertion( "CDGIIZ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051053"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIz"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY gonadal dysgenesis with minifascicular neuropathy) AnnotationAssertion(Annotation( "PMID:10483790"^^xsd:string) "A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2025-03-03T16:57:09Z"^^xsd:string) AnnotationAssertion( "DOID:9006824"^^xsd:string) AnnotationAssertion( "MESH:C567773"^^xsd:string) AnnotationAssertion( "MIM:607080"^^xsd:string) AnnotationAssertion( "MONDO:0011766"^^xsd:string) AnnotationAssertion( "46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy"^^xsd:string) AnnotationAssertion( "GDMN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0051055"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY gonadal dysgenesis with minifascicular neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infective endocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocarditis"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Infective_endocarditis"^^xsd:string) "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6337"^^xsd:string) AnnotationAssertion( "infective endocarditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060000"^^xsd:string) AnnotationAssertion(rdfs:label "infective endocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (withdrawal disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Withdrawal"^^xsd:string) "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004777"^^xsd:string) AnnotationAssertion( "EFO:0005800"^^xsd:string) AnnotationAssertion( "MESH:D013375"^^xsd:string) AnnotationAssertion( "Drug Withdrawal Symptom"^^xsd:string) AnnotationAssertion( "Substance Withdrawal Syndrome"^^xsd:string) AnnotationAssertion( "Substance Withdrawal Syndromes"^^xsd:string) AnnotationAssertion( "Withdrawal Symptom"^^xsd:string) AnnotationAssertion( "drug withdrawal symptoms"^^xsd:string) AnnotationAssertion( "withdrawal symptoms"^^xsd:string) AnnotationAssertion( "alcohol withdrawal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060001"^^xsd:string) AnnotationAssertion(rdfs:label "withdrawal disorder"^^xsd:string) SubClassOf( ) # Class: (C1 inhibitor deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease"^^xsd:string) "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "C1 esterase inhibitor deficiency"^^xsd:string) AnnotationAssertion( "Quincke edema"^^xsd:string) AnnotationAssertion( "deficiency of C1 esterase inhibitor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060002"^^xsd:string) AnnotationAssertion(rdfs:label "C1 inhibitor deficiency"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of central nervous system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune hypersensitivity disease located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0020092"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060004"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of central nervous system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of endocrine system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060005"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of endocrine system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CD3zeta deficiency) AnnotationAssertion(Annotation( "PMID:16264327"^^xsd:string) "A severe combined immunodeficiency that affects the development and function of T cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060007"^^xsd:string) AnnotationAssertion(rdfs:label "CD3zeta deficiency"^^xsd:string) SubClassOf( ) # Class: (janus kinase-3 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance"^^xsd:string) "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005565"^^xsd:string) AnnotationAssertion( "RDO:9002904"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060008"^^xsd:string) AnnotationAssertion(rdfs:label "janus kinase-3 deficiency"^^xsd:string) SubClassOf( ) # Class: (MHC class I deficiency) AnnotationAssertion(Annotation( "PMID:25001848"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome"^^xsd:string) "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604571"^^xsd:string) AnnotationAssertion( "MESH:C565759"^^xsd:string) AnnotationAssertion( "NCI:C171267"^^xsd:string) AnnotationAssertion( "RDO:0014312"^^xsd:string) AnnotationAssertion( "BARE LYMPHOCYTE SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "BLS, Type I"^^xsd:string) AnnotationAssertion( "BLSI"^^xsd:string) AnnotationAssertion( "Bare Lymphocyte Syndrome, Type I"^^xsd:string) AnnotationAssertion( "HLA Class I Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060009"^^xsd:string) AnnotationAssertion(rdfs:label "MHC class I deficiency"^^xsd:string) SubClassOf( ) # Class: (Omenn syndrome) AnnotationAssertion(Annotation( "PMID:11213808"^^xsd:string) Annotation( "PMID:14328107"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Omenn_syndrome"^^xsd:string) "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603554"^^xsd:string) AnnotationAssertion( "GARD:8198"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.8"^^xsd:string) AnnotationAssertion( "MESH:C538564"^^xsd:string) AnnotationAssertion( "NCI:C61240"^^xsd:string) AnnotationAssertion( "Omenn's syndrome"^^xsd:string) AnnotationAssertion( "Omenns syndrome"^^xsd:string) AnnotationAssertion( "combined immunodeficiency with hypereosinophilia"^^xsd:string) AnnotationAssertion( "familial reticuloendotheliosis, with eosinophilia"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency with hypereosinophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060010"^^xsd:string) AnnotationAssertion(rdfs:label "Omenn syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (recombinase activating gene 1 deficiency) AnnotationAssertion(Annotation( "http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html"^^xsd:string) "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000572"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060011"^^xsd:string) AnnotationAssertion(rdfs:label "recombinase activating gene 1 deficiency"^^xsd:string) SubClassOf( ) # Class: (recombinase activating gene 2 deficiency) AnnotationAssertion(Annotation( "http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html"^^xsd:string) "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009651"^^xsd:string) AnnotationAssertion( "RDO:9002906"^^xsd:string) AnnotationAssertion( "RAG2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060012"^^xsd:string) AnnotationAssertion(rdfs:label "recombinase activating gene 2 deficiency"^^xsd:string) SubClassOf( ) # Class: (X-linked severe combined immunodeficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms"^^xsd:string) "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005555"^^xsd:string) AnnotationAssertion( "EFO:1001451"^^xsd:string) AnnotationAssertion( "GARD:5618"^^xsd:string) AnnotationAssertion( "MIM:300400"^^xsd:string) AnnotationAssertion( "NCI:C4682"^^xsd:string) AnnotationAssertion( "IMD4"^^xsd:string) AnnotationAssertion( "Immunodeficiency 4"^^xsd:string) AnnotationAssertion( "SCID-X1"^^xsd:string) AnnotationAssertion( "SCIDX"^^xsd:string) AnnotationAssertion( "SCIDX1"^^xsd:string) AnnotationAssertion( "X-SCID"^^xsd:string) AnnotationAssertion( "X-linked SCID"^^xsd:string) AnnotationAssertion( "X-linked severe combined immunodeficiency disease"^^xsd:string) AnnotationAssertion( "X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative"^^xsd:string) AnnotationAssertion( "XSCID"^^xsd:string) AnnotationAssertion( "gamma chain deficiency"^^xsd:string) AnnotationAssertion( "thymic epithelial hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060013"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked severe combined immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CD45 deficiency) AnnotationAssertion(Annotation( "PMID:29366662"^^xsd:string) "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060014"^^xsd:string) AnnotationAssertion(rdfs:label "CD45 deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CD3delta deficiency) AnnotationAssertion(Annotation( "PMID:15640687"^^xsd:string) "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "CD3D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060016"^^xsd:string) AnnotationAssertion(rdfs:label "CD3delta deficiency"^^xsd:string) SubClassOf( ) # Class: (CD3epsilon deficiency) AnnotationAssertion(Annotation( "PMID:16264327"^^xsd:string) "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060017"^^xsd:string) AnnotationAssertion(rdfs:label "CD3epsilon deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CD3gamma deficiency) AnnotationAssertion(Annotation( "PMID:16264327"^^xsd:string) "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060018"^^xsd:string) AnnotationAssertion(rdfs:label "CD3gamma deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coronin-1A deficiency) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed"^^xsd:string) "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615401"^^xsd:string) AnnotationAssertion( "IMD8"^^xsd:string) AnnotationAssertion( "immunodeficiency 8"^^xsd:string) AnnotationAssertion( "immunodeficiency-8 with lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS"^^xsd:string) AnnotationAssertion( "DOID:0060019"^^xsd:string) AnnotationAssertion(rdfs:label "coronin-1A deficiency"^^xsd:string) SubClassOf( ) # Class: (reticular dysgenesis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/204?"^^xsd:string) "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8625"^^xsd:string) AnnotationAssertion( "MESH:C538361"^^xsd:string) AnnotationAssertion( "MIM:242880"^^xsd:string) AnnotationAssertion( "MIM:267500"^^xsd:string) AnnotationAssertion( "MONDO:0009973"^^xsd:string) AnnotationAssertion( "NCI:C27070"^^xsd:string) AnnotationAssertion( "De Vaal disease"^^xsd:string) AnnotationAssertion( "DeVaal disease"^^xsd:string) AnnotationAssertion( "Hematopoietic Hypoplasia, Generalized"^^xsd:string) AnnotationAssertion( "aleukocytosis"^^xsd:string) AnnotationAssertion( "congenital aleukia"^^xsd:string) AnnotationAssertion( "immunoerythromyeloid hypoplasia"^^xsd:string) AnnotationAssertion( "reticular dysgenesia"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency with leukopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060020"^^xsd:string) AnnotationAssertion(rdfs:label "reticular dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (DNA ligase IV deficiency) AnnotationAssertion(Annotation( "MIM:606593"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/3981"^^xsd:string) "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606593"^^xsd:string) AnnotationAssertion( "MESH:C564694"^^xsd:string) AnnotationAssertion( "NCI:C122657"^^xsd:string) AnnotationAssertion( "DNA Ligase IV Syndrome"^^xsd:string) AnnotationAssertion( "LIG4 Syndrome"^^xsd:string) AnnotationAssertion( "LIG4-related disorder"^^xsd:string) AnnotationAssertion( "LIG4-related disorders"^^xsd:string) AnnotationAssertion( "PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060021"^^xsd:string) AnnotationAssertion(rdfs:label "DNA ligase IV deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CD40 ligand deficiency) AnnotationAssertion(Annotation( "PMID:30681380"^^xsd:string) "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D053307"^^xsd:string) AnnotationAssertion( "MIM:308230"^^xsd:string) AnnotationAssertion( "HIGM1"^^xsd:string) AnnotationAssertion( "HIGM1 syndrome"^^xsd:string) AnnotationAssertion( "HIGM1 syndromes"^^xsd:string) AnnotationAssertion( "HIGMX-1"^^xsd:string) AnnotationAssertion( "Hyper IgM Syndrome 1"^^xsd:string) AnnotationAssertion( "IHIS"^^xsd:string) AnnotationAssertion( "IMD3"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 3"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM"^^xsd:string) AnnotationAssertion( "Immunodeficiency with Hyper IgM, Type 1"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM immunodeficiencies"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM immunodeficiency"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM syndrome"^^xsd:string) AnnotationAssertion( "X-linked hyper-immunoglobulin M (IgM) syndrome"^^xsd:string) AnnotationAssertion( "XHIGM"^^xsd:string) AnnotationAssertion( "XHIM"^^xsd:string) AnnotationAssertion( "hyper-IgM immunodeficiency syndrome, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060022"^^xsd:string) AnnotationAssertion(rdfs:label "CD40 ligand deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency with hyper IgM type 3) AnnotationAssertion(Annotation( "PMID:11675497"^^xsd:string) "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10579"^^xsd:string) AnnotationAssertion( "MIM:606843"^^xsd:string) AnnotationAssertion( "NCI:C176416"^^xsd:string) AnnotationAssertion( "ORDO:101090"^^xsd:string) AnnotationAssertion( "CD40 deficiency"^^xsd:string) AnnotationAssertion( "CD40-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HIGM3"^^xsd:string) AnnotationAssertion( "HIGM3 syndrome"^^xsd:string) AnnotationAssertion( "Hyper IgM Immunodeficiency Syndrome Type 3"^^xsd:string) AnnotationAssertion( "hyper IgM syndrome 3"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome due to CD40 deficiency"^^xsd:string) AnnotationAssertion( "type 3 hyper-IgM immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060023"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency with hyper IgM type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lambda 5 deficiency) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/3543?"^^xsd:string) "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060024"^^xsd:string) AnnotationAssertion(rdfs:label "lambda 5 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunoglobulin alpha deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/973?"^^xsd:string) "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001929"^^xsd:string) AnnotationAssertion( "GARD:10197"^^xsd:string) AnnotationAssertion( "MESH:D017098"^^xsd:string) AnnotationAssertion( "ORDO:69127"^^xsd:string) AnnotationAssertion( "IgA deficiencies"^^xsd:string) AnnotationAssertion( "IgA deficiency"^^xsd:string) AnnotationAssertion( "gamma-A-globulin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060025"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin alpha deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunoglobulin beta deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string) "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567200"^^xsd:string) AnnotationAssertion( "RDO:0015341"^^xsd:string) AnnotationAssertion( "CD79B Deficiency"^^xsd:string) AnnotationAssertion( "IgB Deficiency"^^xsd:string) AnnotationAssertion( "Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060026"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin beta deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 4) AnnotationAssertion(Annotation( "PMID:10583958"^^xsd:string) "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613502"^^xsd:string) AnnotationAssertion( "MONDO:0013289"^^xsd:string) AnnotationAssertion( "AGM4"^^xsd:string) AnnotationAssertion( "B cell linker protein deficiency"^^xsd:string) AnnotationAssertion( "BLNK deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive agammaglobulinemia 4"^^xsd:string) AnnotationAssertion( "autosomal recessive agammaglobulinemia due to BLNK defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060027"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Good syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Good_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/articles/PMC3102047/"^^xsd:string) "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "thymoma with hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060028"^^xsd:string) AnnotationAssertion(rdfs:label "Good syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of exocrine system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060029"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of exocrine system"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of eyes, ear, nose and throat) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060030"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of eyes, ear, nose and throat"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of gastrointestinal tract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060031"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of gastrointestinal tract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of musculoskeletal system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060032"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of musculoskeletal system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of peripheral nervous system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002712"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060033"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of peripheral nervous system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dropped head syndrome) AnnotationAssertion(Annotation( "PMID:23203936"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751"^^xsd:string) "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T18:56:52Z"^^xsd:string) AnnotationAssertion( "DOID:9009019"^^xsd:string) AnnotationAssertion( "EFO:1001987"^^xsd:string) AnnotationAssertion( "Dropped Head Syndromes"^^xsd:string) AnnotationAssertion( "floppy head syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060034"^^xsd:string) AnnotationAssertion(rdfs:label "dropped head syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intrinsic cardiomyopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string) "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060036"^^xsd:string) AnnotationAssertion(rdfs:label "intrinsic cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (developmental disorder of mental health) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Developmental_disorders"^^xsd:string) "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005548"^^xsd:string) AnnotationAssertion( "RDO:9003240"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060037"^^xsd:string) AnnotationAssertion(rdfs:label "developmental disorder of mental health"^^xsd:string) SubClassOf( ) # Class: (specific developmental disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Specific_developmental_disorder"^^xsd:string) "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060038"^^xsd:string) AnnotationAssertion(rdfs:label "specific developmental disorder"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of skin and connective tissue) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060039"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of skin and connective tissue"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pervasive developmental disorder) AnnotationAssertion(Annotation( "https://www.ninds.nih.gov/health-information/disorders/pervasive-developmental-disorders"^^xsd:string) "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000537"^^xsd:string) AnnotationAssertion( "ICD9CM:299.80"^^xsd:string) AnnotationAssertion( "MESH:D002659"^^xsd:string) AnnotationAssertion( "NCI:C97179"^^xsd:string) AnnotationAssertion( "pervasive child development disorders"^^xsd:string) AnnotationAssertion( "pervasive development disorder"^^xsd:string) AnnotationAssertion( "pervasive development disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060040"^^xsd:string) AnnotationAssertion(rdfs:label "pervasive developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autism spectrum disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autism_spectrum_disorder"^^xsd:string) Annotation( "http://www.neurodevnet.ca"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Autism"^^xsd:string) "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003756"^^xsd:string) AnnotationAssertion( "GARD:10248"^^xsd:string) AnnotationAssertion( "MESH:D000067877"^^xsd:string) AnnotationAssertion( "NCI:C88412"^^xsd:string) AnnotationAssertion( "ASD"^^xsd:string) AnnotationAssertion( "Autism Spectrum Disorders"^^xsd:string) AnnotationAssertion( "Autistic spectrum disorder with isolated skills"^^xsd:string) AnnotationAssertion( "NRXN2-RELATED AUTISM SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "familial autism spectrum disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AUTISM, SUSCEPTIBLITY TO"^^xsd:string) AnnotationAssertion( "DOID:0060041"^^xsd:string) AnnotationAssertion(rdfs:label "autism spectrum disorder"^^xsd:string) SubClassOf( ) # Class: (atypical autism) AnnotationAssertion(Annotation( "http://counsellingresource.com/distress/autistic/autism-atypical.html"^^xsd:string) Annotation( "https://kidsbrainhealth.ca"^^xsd:string) Annotation( "https://www.thehealthboard.com/what-is-atypical-autism.htm"^^xsd:string) "An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003759"^^xsd:string) AnnotationAssertion( "MONDO:0016052"^^xsd:string) AnnotationAssertion( "PDD"^^xsd:string) AnnotationAssertion( "pervasive developmental disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060042"^^xsd:string) AnnotationAssertion(rdfs:label "atypical autism"^^xsd:string) SubClassOf( ) # Class: (sexual health disorder) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction"^^xsd:string) "A disease of mental health that involves the impairment in normal sexual functioning. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020018"^^xsd:string) AnnotationAssertion( "Frigidity"^^xsd:string) AnnotationAssertion( "Orgasmic Disorder"^^xsd:string) AnnotationAssertion( "Sexual Arousal Disorder"^^xsd:string) AnnotationAssertion( "Sexual Arousal Disorders"^^xsd:string) AnnotationAssertion( "Sexual Aversion Disorder"^^xsd:string) AnnotationAssertion( "orgasmic disorders"^^xsd:string) AnnotationAssertion( "sexual aversion disorders"^^xsd:string) AnnotationAssertion( "sexual disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060043"^^xsd:string) AnnotationAssertion(rdfs:label "sexual health disorder"^^xsd:string) SubClassOf( ) # Class: (paraphilia disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paraphilia"^^xsd:string) "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010262"^^xsd:string) AnnotationAssertion( "Paraphilia"^^xsd:string) AnnotationAssertion( "Paraphilic Disorder"^^xsd:string) AnnotationAssertion( "Paraphilic Disorders"^^xsd:string) AnnotationAssertion( "Sex Deviation"^^xsd:string) AnnotationAssertion( "paraphilias"^^xsd:string) AnnotationAssertion( "sex deviations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060044"^^xsd:string) AnnotationAssertion(rdfs:label "paraphilia disorder"^^xsd:string) SubClassOf( ) # Class: (Munchausen by proxy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Munchausen_by_proxy"^^xsd:string) "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016735"^^xsd:string) AnnotationAssertion( "Munchausen syndrome by proxy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060045"^^xsd:string) AnnotationAssertion(rdfs:label "Munchausen by proxy"^^xsd:string) SubClassOf( ) # Class: (aphasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aphasia"^^xsd:string) "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D001037"^^xsd:string) AnnotationAssertion( "MONDO:0000598"^^xsd:string) AnnotationAssertion( "Acquired Aphasia"^^xsd:string) AnnotationAssertion( "Ageusic Aphasia"^^xsd:string) AnnotationAssertion( "Alogia"^^xsd:string) AnnotationAssertion( "Anepia"^^xsd:string) AnnotationAssertion( "Auditory Discriminatory Aphasia"^^xsd:string) AnnotationAssertion( "Commisural Aphasia"^^xsd:string) AnnotationAssertion( "Dejerine Lichtheim Phenomenon"^^xsd:string) AnnotationAssertion( "Dysphasia"^^xsd:string) AnnotationAssertion( "Functional Aphasia"^^xsd:string) AnnotationAssertion( "Functional Aphasias"^^xsd:string) AnnotationAssertion( "Global Aphasia"^^xsd:string) AnnotationAssertion( "Global Aphasias"^^xsd:string) AnnotationAssertion( "Global Dysphasia"^^xsd:string) AnnotationAssertion( "Global Dysphasias"^^xsd:string) AnnotationAssertion( "Graphomotor Aphasia"^^xsd:string) AnnotationAssertion( "Graphomotor Aphasias"^^xsd:string) AnnotationAssertion( "Intellectual Aphasia"^^xsd:string) AnnotationAssertion( "Intellectual Aphasias"^^xsd:string) AnnotationAssertion( "Lichtheim Sign"^^xsd:string) AnnotationAssertion( "Lichtheim's Sign"^^xsd:string) AnnotationAssertion( "Lichtheims Sign"^^xsd:string) AnnotationAssertion( "Logagnosia"^^xsd:string) AnnotationAssertion( "Logagnosias"^^xsd:string) AnnotationAssertion( "Logamnesia"^^xsd:string) AnnotationAssertion( "Logamnesias"^^xsd:string) AnnotationAssertion( "Logasthenia"^^xsd:string) AnnotationAssertion( "Logasthenias"^^xsd:string) AnnotationAssertion( "Mixed Aphasia"^^xsd:string) AnnotationAssertion( "Mixed Aphasias"^^xsd:string) AnnotationAssertion( "Post-Ictal Aphasia"^^xsd:string) AnnotationAssertion( "Post-Ictal Aphasias"^^xsd:string) AnnotationAssertion( "Post-Traumatic Aphasia"^^xsd:string) AnnotationAssertion( "Post-Traumatic Aphasias"^^xsd:string) AnnotationAssertion( "Progressive Aphasia"^^xsd:string) AnnotationAssertion( "ageusic aphasias"^^xsd:string) AnnotationAssertion( "alogias"^^xsd:string) AnnotationAssertion( "anepias"^^xsd:string) AnnotationAssertion( "auditory discriminatory aphasias"^^xsd:string) AnnotationAssertion( "commisural aphasias"^^xsd:string) AnnotationAssertion( "progressive aphasias"^^xsd:string) AnnotationAssertion( "semantic aphasia"^^xsd:string) AnnotationAssertion( "semantic aphasias"^^xsd:string) AnnotationAssertion( "syntactical aphasia"^^xsd:string) AnnotationAssertion( "syntactical aphasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060046"^^xsd:string) AnnotationAssertion(rdfs:label "aphasia"^^xsd:string) SubClassOf( ) # Class: (writing disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities"^^xsd:string) "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060047"^^xsd:string) AnnotationAssertion(rdfs:label "writing disorder"^^xsd:string) SubClassOf( ) # Class: (nosophobia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nosophobia"^^xsd:string) "A specific phobia that involves an irrational fear of contracting a disease. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001903"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060048"^^xsd:string) AnnotationAssertion(rdfs:label "nosophobia"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of urogenital tract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060049"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of urogenital tract"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of blood) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060050"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of blood"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of cardiovascular system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000603"^^xsd:string) AnnotationAssertion( "autoimmune disorder of cardiovascular system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060051"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of cardiovascular system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autonomic peripheral neuropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Autonomic_neuropathy"^^xsd:string) "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060054"^^xsd:string) AnnotationAssertion(rdfs:label "autonomic peripheral neuropathy"^^xsd:string) SubClassOf( ) # Class: (popliteal pterygium syndrome) AnnotationAssertion(Annotation( "PMID:2352260"^^xsd:string) Annotation( "PMID:4384166"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome"^^xsd:string) "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119500"^^xsd:string) AnnotationAssertion( "GARD:3242"^^xsd:string) AnnotationAssertion( "MESH:C562509"^^xsd:string) AnnotationAssertion( "NCI:C118786"^^xsd:string) AnnotationAssertion( "ORDO:1300"^^xsd:string) AnnotationAssertion( "ORDO:294963"^^xsd:string) AnnotationAssertion( "PPS"^^xsd:string) AnnotationAssertion( "cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies"^^xsd:string) AnnotationAssertion( "facio-genito-popliteal syndrome"^^xsd:string) AnnotationAssertion( "faciogenitopopliteal syndrome"^^xsd:string) AnnotationAssertion( "popliteal web syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060055"^^xsd:string) AnnotationAssertion(rdfs:label "popliteal pterygium syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypersensitivity reaction disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypersensitivity"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK27136/"^^xsd:string) "An immune system disease that has_material_basis_in abnormal immune responses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060056"^^xsd:string) AnnotationAssertion(rdfs:label "hypersensitivity reaction disease"^^xsd:string) SubClassOf( ) # Class: (gluten allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy"^^xsd:string) "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "allergy to gluten"^^xsd:string) AnnotationAssertion( "gluten allergic reaction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060057"^^xsd:string) AnnotationAssertion(rdfs:label "gluten allergy"^^xsd:string) SubClassOf( ) # Class: (lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphoma"^^xsd:string) Annotation( "http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/lymphoma.html"^^xsd:string) "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000574"^^xsd:string) AnnotationAssertion( "ICD10CM:C85.9"^^xsd:string) AnnotationAssertion( "ICDO:9590/3"^^xsd:string) AnnotationAssertion( "MESH:D008223"^^xsd:string) AnnotationAssertion( "MONDO:0005062"^^xsd:string) AnnotationAssertion( "NCI:C128121"^^xsd:string) AnnotationAssertion( "NCI:C134786"^^xsd:string) AnnotationAssertion( "NCI:C21602"^^xsd:string) AnnotationAssertion( "NCI:C3208"^^xsd:string) AnnotationAssertion( "NCI:C60448"^^xsd:string) AnnotationAssertion( "NCI:C7065"^^xsd:string) AnnotationAssertion( "germinoblastic sarcoma"^^xsd:string) AnnotationAssertion( "germinoblastic sarcomas"^^xsd:string) AnnotationAssertion( "germinoblastoma"^^xsd:string) AnnotationAssertion( "germinoblastomas"^^xsd:string) AnnotationAssertion( "lymphoid cancer"^^xsd:string) AnnotationAssertion( "lymphomas"^^xsd:string) AnnotationAssertion( "malignant lymphoma"^^xsd:string) AnnotationAssertion( "malignant lymphomas"^^xsd:string) AnnotationAssertion( "reticulolymphosarcoma"^^xsd:string) AnnotationAssertion( "reticulolymphosarcomas"^^xsd:string) AnnotationAssertion( "lymphoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060058"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (non-Hodgkin lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45148"^^xsd:string) "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605027"^^xsd:string) AnnotationAssertion( "RAD54L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0005952"^^xsd:string) AnnotationAssertion( "ICDO:9591/3"^^xsd:string) AnnotationAssertion( "MESH:D008228"^^xsd:string) AnnotationAssertion( "NCI:C179055"^^xsd:string) AnnotationAssertion( "NCI:C3211"^^xsd:string) AnnotationAssertion( "ORDO:547"^^xsd:string) AnnotationAssertion( "Diffuse Mixed Small and Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Diffuse Small Cleaved Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Diffuse Undifferentiated Lymphoma"^^xsd:string) AnnotationAssertion( "High-Grade Lymphoma"^^xsd:string) AnnotationAssertion( "Intermediate-Grade Lymphoma"^^xsd:string) AnnotationAssertion( "Low-Grade Lymphoma"^^xsd:string) AnnotationAssertion( "Lymphatic Sarcoma"^^xsd:string) AnnotationAssertion( "Lymphoma, Atypical Diffuse Small Lymphoid"^^xsd:string) AnnotationAssertion( "Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic"^^xsd:string) AnnotationAssertion( "Lymphoma, Non-Hodgkin, Familial"^^xsd:string) AnnotationAssertion( "Lymphoma, Nonhodgkin"^^xsd:string) AnnotationAssertion( "Lymphoma, Small and Large Cleaved-Cell, Diffuse"^^xsd:string) AnnotationAssertion( "Lymphosarcoma"^^xsd:string) AnnotationAssertion( "Mixed Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Mixed Lymphocytic-Histiocytic Lymphoma"^^xsd:string) AnnotationAssertion( "Mixed Lymphoma"^^xsd:string) AnnotationAssertion( "NHL"^^xsd:string) AnnotationAssertion( "diffuse lymphoma"^^xsd:string) AnnotationAssertion( "diffuse lymphomas"^^xsd:string) AnnotationAssertion( "diffuse mixed cell lymphoma"^^xsd:string) AnnotationAssertion( "diffuse mixed-cell lymphomas"^^xsd:string) AnnotationAssertion( "diffuse undifferentiated lymphomas"^^xsd:string) AnnotationAssertion( "high-grade lymphomas"^^xsd:string) AnnotationAssertion( "intermediate-grade lymphomas"^^xsd:string) AnnotationAssertion( "low-grade lymphomas"^^xsd:string) AnnotationAssertion( "lymphatic sarcomas"^^xsd:string) AnnotationAssertion( "lymphosarcomas"^^xsd:string) AnnotationAssertion( "mixed lymphocytic-histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "mixed lymphomas"^^xsd:string) AnnotationAssertion( "mixed-cell lymphomas"^^xsd:string) AnnotationAssertion( "non-Hodgkin malignant lymphoma"^^xsd:string) AnnotationAssertion( "non-Hodgkin's lymphoma"^^xsd:string) AnnotationAssertion( "non-Hodgkins lymphoma"^^xsd:string) AnnotationAssertion( "pleomorphic lymphoma"^^xsd:string) AnnotationAssertion( "pleomorphic lymphomas"^^xsd:string) AnnotationAssertion( "small non cleaved cell lymphoma"^^xsd:string) AnnotationAssertion( "small non-cleaved-cell lymphomas"^^xsd:string) AnnotationAssertion( "small noncleaved cell lymphoma"^^xsd:string) AnnotationAssertion( "small noncleaved-cell lymphomas"^^xsd:string) AnnotationAssertion( "undifferentiated lymphoma"^^xsd:string) AnnotationAssertion( "undifferentiated lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Lymphoma, Non-Hodgkin, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:0060060"^^xsd:string) AnnotationAssertion(rdfs:label "non-Hodgkin lymphoma"^^xsd:string) SubClassOf( ) # Class: (primary cutaneous T-cell non-Hodgkin lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma"^^xsd:string) "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002913"^^xsd:string) AnnotationAssertion( "GARD:6226"^^xsd:string) AnnotationAssertion( "MESH:D016410"^^xsd:string) AnnotationAssertion( "MONDO:0000607"^^xsd:string) AnnotationAssertion( "NCI:C186279"^^xsd:string) AnnotationAssertion( "NCI:C3467"^^xsd:string) AnnotationAssertion( "cutaneous T-cell lymphoma"^^xsd:string) AnnotationAssertion( "cutaneous T-cell lymphomas"^^xsd:string) AnnotationAssertion( "granulomatous slack skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060061"^^xsd:string) AnnotationAssertion(rdfs:label "primary cutaneous T-cell non-Hodgkin lymphoma"^^xsd:string) SubClassOf( ) # Class: (familial juvenile hyperuricemic nephropathy) AnnotationAssertion(Annotation( "PMID:21060763"^^xsd:string) "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS162000"^^xsd:string) AnnotationAssertion( "ORDO:209886"^^xsd:string) AnnotationAssertion( "ORDO:217330"^^xsd:string) AnnotationAssertion( "ADTKD"^^xsd:string) AnnotationAssertion( "FJHN"^^xsd:string) AnnotationAssertion( "GCKD"^^xsd:string) AnnotationAssertion( "HNFJ"^^xsd:string) AnnotationAssertion( "MCKD"^^xsd:string) AnnotationAssertion( "autosomal dominant tubulointerstitial kidney disease"^^xsd:string) AnnotationAssertion( "glomerulocystic kidney disease"^^xsd:string) AnnotationAssertion( "hereditary interstitial kidney disease"^^xsd:string) AnnotationAssertion( "medullary cystic kidney disease"^^xsd:string) AnnotationAssertion( "tubulointerstitial nephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060062"^^xsd:string) AnnotationAssertion(rdfs:label "familial juvenile hyperuricemic nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sideroblastic anemia 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia"^^xsd:string) "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300751"^^xsd:string) AnnotationAssertion( "ALAS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9456"^^xsd:string) AnnotationAssertion( "MESH:C536761"^^xsd:string) AnnotationAssertion( "ANH1"^^xsd:string) AnnotationAssertion( "Erythroid 5-Aminolevulinate Synthase Deficiency"^^xsd:string) AnnotationAssertion( "Hereditary Iron-Loading Anemia"^^xsd:string) AnnotationAssertion( "SIDBA1"^^xsd:string) AnnotationAssertion( "X chromosome-linked sideroblastic anemia"^^xsd:string) AnnotationAssertion( "X-linked pyridoxine-responsive sideroblastic anemia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anaemia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anemia"^^xsd:string) AnnotationAssertion( "XLSA"^^xsd:string) AnnotationAssertion( "congenital sideroblastic anaemia"^^xsd:string) AnnotationAssertion( "hereditary sideroblastic anemia"^^xsd:string) AnnotationAssertion( "sex-linked hypochromic sideroblastic anemia"^^xsd:string) AnnotationAssertion( "sideroblastic anaemia 1"^^xsd:string) AnnotationAssertion( "ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY"^^xsd:string) AnnotationAssertion( "sideroblastic anaemia 1, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060063"^^xsd:string) AnnotationAssertion(rdfs:label "sideroblastic anemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal recessive pyridoxine-refractory sideroblastic anemia 2) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive"^^xsd:string) "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567145"^^xsd:string) AnnotationAssertion( "MIM:205950"^^xsd:string) AnnotationAssertion( "MONDO:0008785"^^xsd:string) AnnotationAssertion( "SIDBA2"^^xsd:string) AnnotationAssertion( "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory autosomal recessive sideroblastic anaemia"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory autosomal recessive sideroblastic anemia"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory sideroblastic anemia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060065"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyridoxine-responsive sideroblastic anemia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive"^^xsd:string) "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:206000"^^xsd:string) AnnotationAssertion( "MESH:C565954"^^xsd:string) AnnotationAssertion( "Anemia, Congenital Sideroblastic, B6-Responsive"^^xsd:string) AnnotationAssertion( "pyridoxine-responsive sideroblastic anemia, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060066"^^xsd:string) AnnotationAssertion(rdfs:label "pyridoxine-responsive sideroblastic anemia"^^xsd:string) SubClassOf( ) # Class: (Pearson syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pearson_syndrome"^^xsd:string) "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7343"^^xsd:string) AnnotationAssertion( "MIM:557000"^^xsd:string) AnnotationAssertion( "MONDO:0010797"^^xsd:string) AnnotationAssertion( "NCI:C115326"^^xsd:string) AnnotationAssertion( "Pearson marrow-pancreas syndrome"^^xsd:string) AnnotationAssertion( "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060067"^^xsd:string) AnnotationAssertion(rdfs:label "Pearson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonbacterial thrombotic endocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Marantic_endocarditis"^^xsd:string) "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D059905"^^xsd:string) AnnotationAssertion( "marantic endocarditides"^^xsd:string) AnnotationAssertion( "marantic endocarditis"^^xsd:string) AnnotationAssertion( "non-bacterial thrombotic endocarditis"^^xsd:string) AnnotationAssertion( "non-infective endocarditides"^^xsd:string) AnnotationAssertion( "non-infective endocarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060068"^^xsd:string) AnnotationAssertion(rdfs:label "nonbacterial thrombotic endocarditis"^^xsd:string) SubClassOf( ) # Class: (pre-malignant neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neoplasm"^^xsd:string) "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006892"^^xsd:string) AnnotationAssertion( "EFO:1000265"^^xsd:string) AnnotationAssertion( "EFO:1000443"^^xsd:string) AnnotationAssertion( "EFO:1000536"^^xsd:string) AnnotationAssertion( "MESH:D011230"^^xsd:string) AnnotationAssertion( "Precancerous Condition"^^xsd:string) AnnotationAssertion( "Preneoplastic Condition"^^xsd:string) AnnotationAssertion( "precancerous conditions"^^xsd:string) AnnotationAssertion( "preneoplastic conditions"^^xsd:string) AnnotationAssertion( "Clonal Hematopoiesis"^^xsd:string) AnnotationAssertion( "Gallbladder Biliary Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "Pancreatic Precancerous Condition"^^xsd:string) AnnotationAssertion( "Small Intestinal Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "cutaneous precancerous condition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060071"^^xsd:string) AnnotationAssertion(rdfs:label "pre-malignant neoplasm"^^xsd:string) SubClassOf( ) # Class: (benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_neoplasm"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/benigntumors.html"^^xsd:string) "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002422"^^xsd:string) AnnotationAssertion( "MONDO:0005165"^^xsd:string) AnnotationAssertion( "NCI:C3677"^^xsd:string) AnnotationAssertion( "benign neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060072"^^xsd:string) AnnotationAssertion(rdfs:label "benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (lymphatic system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphatic_system"^^xsd:string) "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060073"^^xsd:string) AnnotationAssertion(rdfs:label "lymphatic system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ductal carcinoma in situ) AnnotationAssertion(Annotation( "https://www.breastcancer.org/symptoms/types/dcis"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma"^^xsd:string) "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000432"^^xsd:string) AnnotationAssertion( "EFO:0008491"^^xsd:string) AnnotationAssertion( "MESH:D002285"^^xsd:string) AnnotationAssertion( "MONDO:0005023"^^xsd:string) AnnotationAssertion( "DCIS"^^xsd:string) AnnotationAssertion( "Intraductal Carcinoma"^^xsd:string) AnnotationAssertion( "ductal breast carcinoma in situ"^^xsd:string) AnnotationAssertion( "intraductal carcinomas"^^xsd:string) AnnotationAssertion( "noninfiltrating intraductal carcinoma"^^xsd:string) AnnotationAssertion( "noninfiltrating intraductal carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Atypical Ductal Hyperplasia"^^xsd:string) AnnotationAssertion( "atypical ductal hyperplasias"^^xsd:string) AnnotationAssertion( "DOID:0060074"^^xsd:string) AnnotationAssertion(rdfs:label "ductal carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (estrogen-receptor positive breast cancer) AnnotationAssertion(Annotation( "PMID:25471040"^^xsd:string) Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) "A breast cancer that is characterized by the presence of estrogen receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000649"^^xsd:string) AnnotationAssertion( "RDO:9001776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060075"^^xsd:string) AnnotationAssertion(rdfs:label "estrogen-receptor positive breast cancer"^^xsd:string) SubClassOf( ) # Class: (estrogen-receptor negative breast cancer) AnnotationAssertion(Annotation( "PMID:25471040"^^xsd:string) Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) "A breast cancer that is characterized by the absence of estrogen receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000650"^^xsd:string) AnnotationAssertion( "MONDO:0006513"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060076"^^xsd:string) AnnotationAssertion(rdfs:label "estrogen-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (progesterone-receptor positive breast cancer) AnnotationAssertion(Annotation( "PMID:25471040"^^xsd:string) Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) "A breast cancer that is characterized by the presence of progesterone receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009782"^^xsd:string) AnnotationAssertion( "RDO:9001778"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060077"^^xsd:string) AnnotationAssertion(rdfs:label "progesterone-receptor positive breast cancer"^^xsd:string) SubClassOf( ) # Class: (progesterone-receptor negative breast cancer) AnnotationAssertion(Annotation( "PMID:25471040"^^xsd:string) Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) "A breast cancer that is characterized by the absence of progesterone receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009781"^^xsd:string) AnnotationAssertion( "RDO:9001779"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060078"^^xsd:string) AnnotationAssertion(rdfs:label "progesterone-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (Her2-receptor positive breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) Annotation( "https://www.sciencedirect.com/science/article/pii/S1470204511703369"^^xsd:string) "A breast cancer that is characterized by the presence of Her2 receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000294"^^xsd:string) AnnotationAssertion( "RDO:9001780"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060079"^^xsd:string) AnnotationAssertion(rdfs:label "Her2-receptor positive breast cancer"^^xsd:string) SubClassOf( ) # Class: (Her2-receptor negative breast cancer) AnnotationAssertion(Annotation( "PMID:25682076"^^xsd:string) "A breast cancer that is characterized by the absence of Her2 receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009780"^^xsd:string) AnnotationAssertion( "RDO:9001781"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060080"^^xsd:string) AnnotationAssertion(rdfs:label "Her2-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (triple-receptor negative breast cancer) AnnotationAssertion(Annotation( "PMID:22826413"^^xsd:string) "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005537"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060081"^^xsd:string) AnnotationAssertion(rdfs:label "triple-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (breast benign neoplasm) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html"^^xsd:string) "A thoracic benign neoplasm that is characterized by lack of malignancy. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9003366"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060082"^^xsd:string) AnnotationAssertion(rdfs:label "breast benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immune system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Immune_system"^^xsd:string) "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060083"^^xsd:string) AnnotationAssertion(rdfs:label "immune system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cell type benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string) "A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002422"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060084"^^xsd:string) AnnotationAssertion(rdfs:label "cell type benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (organ system benign neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677"^^xsd:string) "A benign neoplasm that is classified by the organ system from which it is arising from. (DO)"^^xsd:string) AnnotationAssertion( "DOID:1789"^^xsd:string) AnnotationAssertion( "EFO:0002422"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060085"^^xsd:string) AnnotationAssertion(rdfs:label "organ system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female reproductive organ benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK9559/"^^xsd:string) "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060086"^^xsd:string) AnnotationAssertion(rdfs:label "female reproductive organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male reproductive organ benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK9556/"^^xsd:string) "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002414"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060087"^^xsd:string) AnnotationAssertion(rdfs:label "male reproductive organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vestibular gland benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bartholin%27s_gland"^^xsd:string) Annotation( "https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060088"^^xsd:string) AnnotationAssertion(rdfs:label "vestibular gland benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (endocrine organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string) "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060089"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system benign neoplasm) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq"^^xsd:string) "A nervous system benign neoplasm that is characterized by lack of malignancy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060090"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiovascular organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system"^^xsd:string) "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060091"^^xsd:string) AnnotationAssertion(rdfs:label "cardiovascular organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immune system organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Immune_system"^^xsd:string) "An organ system benign neoplasm located_in the immune system organs. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9002422"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060092"^^xsd:string) AnnotationAssertion(rdfs:label "immune system organ benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (bone benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bone_tumor"^^xsd:string) "A connective tissue benign neoplasm that is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060094"^^xsd:string) AnnotationAssertion(rdfs:label "bone benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Uterine_fibroid"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK9559/"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002424"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060095"^^xsd:string) AnnotationAssertion(rdfs:label "uterine benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sensory organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string) "A nervous system benign neoplasm that is located_in a sensory organ. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060096"^^xsd:string) AnnotationAssertion(rdfs:label "sensory organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thoracic benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thoracic_cavity"^^xsd:string) "An organ system benign neoplam that is located_in the thoracic cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060097"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteoblastoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Osteoblastoma"^^xsd:string) "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000410"^^xsd:string) AnnotationAssertion( "ICDO:9200/0"^^xsd:string) AnnotationAssertion( "MESH:D018215"^^xsd:string) AnnotationAssertion( "NCI:C3294"^^xsd:string) AnnotationAssertion( "giant osteoid osteoma"^^xsd:string) AnnotationAssertion( "giant osteoid osteomas"^^xsd:string) AnnotationAssertion( "osteoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060098"^^xsd:string) AnnotationAssertion(rdfs:label "osteoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (musculoskeletal system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Musculoskeletal_system"^^xsd:string) "An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060099"^^xsd:string) AnnotationAssertion(rdfs:label "musculoskeletal system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (musculoskeletal system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders"^^xsd:string) "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "skeletal system cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060100"^^xsd:string) AnnotationAssertion(rdfs:label "musculoskeletal system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (cartilage cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cartilage_tumor"^^xsd:string) "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060102"^^xsd:string) AnnotationAssertion(rdfs:label "cartilage cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system embryonal tumor) AnnotationAssertion(Annotation( "http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor"^^xsd:string) "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9473/3"^^xsd:string) AnnotationAssertion( "NCI:C5398"^^xsd:string) AnnotationAssertion( "CNS embryonal tumour, NEC/NOS"^^xsd:string) AnnotationAssertion( "central nervous system primitive neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060103"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system embryonal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebellar medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string) "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002939"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060104"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain meningioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Meningioma"^^xsd:string) "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060106"^^xsd:string) AnnotationAssertion(rdfs:label "brain meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain glioma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/lowergradeglioma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45700"^^xsd:string) "A brain cancer that has_material_basis_in glial cells. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564230"^^xsd:string) AnnotationAssertion( "Familial Glioma of Brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "lower grade glioma"^^xsd:string) AnnotationAssertion( "DOID:0060108"^^xsd:string) AnnotationAssertion(rdfs:label "brain glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar benign neoplasm) AnnotationAssertion(Annotation( "PMID:25220103"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the vulva. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060109"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical benign neoplasm) AnnotationAssertion(Annotation( "PMID:8400047"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the cervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060110"^^xsd:string) AnnotationAssertion(rdfs:label "cervical benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube benign neoplasm) AnnotationAssertion(Annotation( "http://www.glowm.com/section_view/item/8"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000134"^^xsd:string) AnnotationAssertion( "RDO:9003381"^^xsd:string) AnnotationAssertion( "Borderline Fallopian Tube Serous Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060111"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian benign neoplasm) AnnotationAssertion(Annotation( "PMID:24992780"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002507"^^xsd:string) AnnotationAssertion( "EFO:1000113"^^xsd:string) AnnotationAssertion( "EFO:1000116"^^xsd:string) AnnotationAssertion( "EFO:1000117"^^xsd:string) AnnotationAssertion( "Benign Ovarian Endometrioid Tumor"^^xsd:string) AnnotationAssertion( "Benign Ovarian Surface Epithelial-Stromal Tumor"^^xsd:string) AnnotationAssertion( "ovarian adenoma benign"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060112"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal benign neoplasm) AnnotationAssertion(Annotation( "https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the vagina. (DO)"^^xsd:string) AnnotationAssertion( "vaginal benign neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060114"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nervous system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nervous_system"^^xsd:string) "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060115"^^xsd:string) AnnotationAssertion(rdfs:label "nervous system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sensory system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string) "A nervous system cancer that is located in the sensory system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060116"^^xsd:string) AnnotationAssertion(rdfs:label "sensory system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peritoneal benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peritoneal"^^xsd:string) "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060117"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneal benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (thoracic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thoracic_cavity"^^xsd:string) "A disease of anatomical entity that is located_in the thoracic cavity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013896"^^xsd:string) AnnotationAssertion( "thoracic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060118"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pharynx cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pharynx"^^xsd:string) "A gastrointestinal system cancer that is located_in the pharynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005577"^^xsd:string) AnnotationAssertion( "EFO:1000472"^^xsd:string) AnnotationAssertion( "NCI:C3325"^^xsd:string) AnnotationAssertion( "RDO:9002335"^^xsd:string) AnnotationAssertion( "pharyngeal cancer"^^xsd:string) AnnotationAssertion( "Pharyngeal Adenoid Cystic Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060119"^^xsd:string) AnnotationAssertion(rdfs:label "pharynx cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (integumentary system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string) "An organ system benign neoplasm located_in the integumentary system organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060121"^^xsd:string) AnnotationAssertion(rdfs:label "integumentary system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (integumentary system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string) "An organ system cancer that is located_in the skin, hair and nails. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060122"^^xsd:string) AnnotationAssertion(rdfs:label "integumentary system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (connective tissue benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Connective_tissue_neoplasm"^^xsd:string) "A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3377"^^xsd:string) AnnotationAssertion( "mesenchymal tissue neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of soft tissue"^^xsd:string) AnnotationAssertion( "neoplasm of soft tissues"^^xsd:string) AnnotationAssertion( "soft tissue benign neoplasm"^^xsd:string) AnnotationAssertion( "tumor of the soft tissue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060123"^^xsd:string) AnnotationAssertion(rdfs:label "connective tissue benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heavy chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001341"^^xsd:string) AnnotationAssertion( "ICD10CM:C88.2"^^xsd:string) AnnotationAssertion( "ICDO:9762/3"^^xsd:string) AnnotationAssertion( "MESH:D006362"^^xsd:string) AnnotationAssertion( "NCI:C3082"^^xsd:string) AnnotationAssertion( "NCI:C3083"^^xsd:string) AnnotationAssertion( "NCI:C3892"^^xsd:string) AnnotationAssertion( "Heavy Chain Diseases"^^xsd:string) AnnotationAssertion( "gamma Chain Disease"^^xsd:string) AnnotationAssertion( "gamma-Chain Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060125"^^xsd:string) AnnotationAssertion(rdfs:label "heavy chain disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alpha chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001798"^^xsd:string) AnnotationAssertion( "MESH:D007161"^^xsd:string) AnnotationAssertion( "IPSID"^^xsd:string) AnnotationAssertion( "Seligmann's disease"^^xsd:string) AnnotationAssertion( "alpha heavy chain disease"^^xsd:string) AnnotationAssertion( "alpha-chain diseases"^^xsd:string) AnnotationAssertion( "heavy chain disease, IgA type"^^xsd:string) AnnotationAssertion( "immunoproliferative small intestinal disease"^^xsd:string) AnnotationAssertion( "mediterranean lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060126"^^xsd:string) AnnotationAssertion(rdfs:label "alpha chain disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gamma heavy chain disease) AnnotationAssertion(Annotation( "PMID:2509855"^^xsd:string) "A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO)"^^xsd:string) AnnotationAssertion( "GARD:10346"^^xsd:string) AnnotationAssertion( "MONDO:0015046"^^xsd:string) AnnotationAssertion( "Franklin disease"^^xsd:string) AnnotationAssertion( "Franklin's disease"^^xsd:string) AnnotationAssertion( "Franklins disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060127"^^xsd:string) AnnotationAssertion(rdfs:label "gamma heavy chain disease"^^xsd:string) SubClassOf( ) # Class: (mu chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO)"^^xsd:string) AnnotationAssertion( "mu-chain diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060128"^^xsd:string) AnnotationAssertion(rdfs:label "mu chain disease"^^xsd:string) SubClassOf( ) # Class: (delta chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060129"^^xsd:string) AnnotationAssertion(rdfs:label "delta chain disease"^^xsd:string) SubClassOf( ) # Class: (akinetopsia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of motion perception. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060130"^^xsd:string) AnnotationAssertion(rdfs:label "akinetopsia"^^xsd:string) SubClassOf( ) # Class: (alexithymia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060131"^^xsd:string) AnnotationAssertion(rdfs:label "alexithymia"^^xsd:string) SubClassOf( ) # Class: (amusia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO)"^^xsd:string) AnnotationAssertion( "MIM:191200"^^xsd:string) AnnotationAssertion( "MESH:C566019"^^xsd:string) AnnotationAssertion( "congenital amusia"^^xsd:string) AnnotationAssertion( "dysmelodia"^^xsd:string) AnnotationAssertion( "receptive amusia"^^xsd:string) AnnotationAssertion( "tone deafness"^^xsd:string) AnnotationAssertion( "tune deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060132"^^xsd:string) AnnotationAssertion(rdfs:label "amusia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anosognosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "anosognosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060133"^^xsd:string) AnnotationAssertion(rdfs:label "anosognosia"^^xsd:string) SubClassOf( ) # Class: (apperceptive agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to distinguish visual shapes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060134"^^xsd:string) AnnotationAssertion(rdfs:label "apperceptive agnosia"^^xsd:string) SubClassOf( ) # Class: (apraxia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5838"^^xsd:string) AnnotationAssertion( "ICD10CM:R48.2"^^xsd:string) AnnotationAssertion( "MESH:D001072"^^xsd:string) AnnotationAssertion( "NCI:C180557"^^xsd:string) AnnotationAssertion( "Articulatory Dyspraxia"^^xsd:string) AnnotationAssertion( "CAS"^^xsd:string) AnnotationAssertion( "DVD"^^xsd:string) AnnotationAssertion( "Developmental Verbal Apraxia"^^xsd:string) AnnotationAssertion( "Dressing Apraxia"^^xsd:string) AnnotationAssertion( "Dyspraxia"^^xsd:string) AnnotationAssertion( "Dyspraxias"^^xsd:string) AnnotationAssertion( "Facial-Oral Apraxia"^^xsd:string) AnnotationAssertion( "Facial-Oral Apraxias"^^xsd:string) AnnotationAssertion( "Gestural Apraxia"^^xsd:string) AnnotationAssertion( "Gestural Apraxias"^^xsd:string) AnnotationAssertion( "Ideational Apraxia"^^xsd:string) AnnotationAssertion( "Ideational Apraxias"^^xsd:string) AnnotationAssertion( "Motor Apraxia"^^xsd:string) AnnotationAssertion( "Motor Apraxias"^^xsd:string) AnnotationAssertion( "Oral Apraxia"^^xsd:string) AnnotationAssertion( "Oral Apraxias"^^xsd:string) AnnotationAssertion( "Oral Dyspraxia"^^xsd:string) AnnotationAssertion( "Oral Dyspraxias"^^xsd:string) AnnotationAssertion( "apraxia of phonation"^^xsd:string) AnnotationAssertion( "apraxias"^^xsd:string) AnnotationAssertion( "articulatory apraxia"^^xsd:string) AnnotationAssertion( "articulatory apraxias"^^xsd:string) AnnotationAssertion( "articulatory dyspraxias"^^xsd:string) AnnotationAssertion( "developmental verbal apraxias"^^xsd:string) AnnotationAssertion( "developmental verbal dyspraxia"^^xsd:string) AnnotationAssertion( "developmental verbal dyspraxias"^^xsd:string) AnnotationAssertion( "dressing apraxias"^^xsd:string) AnnotationAssertion( "phonation apraxia"^^xsd:string) AnnotationAssertion( "phonation apraxias"^^xsd:string) AnnotationAssertion( "verbal apraxia"^^xsd:string) AnnotationAssertion( "verbal apraxias"^^xsd:string) AnnotationAssertion( "verbal dyspraxia"^^xsd:string) AnnotationAssertion( "verbal dyspraxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060135"^^xsd:string) AnnotationAssertion(rdfs:label "apraxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (associative agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060136"^^xsd:string) AnnotationAssertion(rdfs:label "associative agnosia"^^xsd:string) SubClassOf( ) # Class: (auditory agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "congenital auditory agnosia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060137"^^xsd:string) AnnotationAssertion(rdfs:label "auditory agnosia"^^xsd:string) SubClassOf( ) # Class: (autotopagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to orient parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060138"^^xsd:string) AnnotationAssertion(rdfs:label "autotopagnosia"^^xsd:string) SubClassOf( ) # Class: (color agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060139"^^xsd:string) AnnotationAssertion(rdfs:label "color agnosia"^^xsd:string) SubClassOf( ) # Class: (cortical deafness) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006313"^^xsd:string) AnnotationAssertion( "central hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060140"^^xsd:string) AnnotationAssertion(rdfs:label "cortical deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (finger agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060141"^^xsd:string) AnnotationAssertion(rdfs:label "finger agnosia"^^xsd:string) SubClassOf( ) # Class: (form agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060142"^^xsd:string) AnnotationAssertion(rdfs:label "form agnosia"^^xsd:string) SubClassOf( ) # Class: (integrative agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060143"^^xsd:string) AnnotationAssertion(rdfs:label "integrative agnosia"^^xsd:string) SubClassOf( ) # Class: (mirror agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060144"^^xsd:string) AnnotationAssertion(rdfs:label "mirror agnosia"^^xsd:string) SubClassOf( ) # Class: (pain agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive and process pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001484"^^xsd:string) AnnotationAssertion( "analgesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060145"^^xsd:string) AnnotationAssertion(rdfs:label "pain agnosia"^^xsd:string) SubClassOf( ) # Class: (phonagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize familiar voices. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060146"^^xsd:string) AnnotationAssertion(rdfs:label "phonagnosia"^^xsd:string) SubClassOf( ) # Class: (semantic agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060147"^^xsd:string) AnnotationAssertion(rdfs:label "semantic agnosia"^^xsd:string) SubClassOf( ) # Class: (simultanagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:11943"^^xsd:string) AnnotationAssertion( "MONDO:0000678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060148"^^xsd:string) AnnotationAssertion(rdfs:label "simultanagnosia"^^xsd:string) SubClassOf( ) # Class: (social emotional agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "expressive agnosia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060149"^^xsd:string) AnnotationAssertion(rdfs:label "social emotional agnosia"^^xsd:string) SubClassOf( ) # Class: (astereognosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "somatosensory agnosia"^^xsd:string) AnnotationAssertion( "somatosensory agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060150"^^xsd:string) AnnotationAssertion(rdfs:label "astereognosia"^^xsd:string) SubClassOf( ) # Class: (tactile agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "tactile agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060151"^^xsd:string) AnnotationAssertion(rdfs:label "tactile agnosia"^^xsd:string) SubClassOf( ) # Class: (time agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "time agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060152"^^xsd:string) AnnotationAssertion(rdfs:label "time agnosia"^^xsd:string) SubClassOf( ) # Class: (topographical agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "topographical agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060153"^^xsd:string) AnnotationAssertion(rdfs:label "topographical agnosia"^^xsd:string) SubClassOf( ) # Class: (verbal auditory agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060154"^^xsd:string) AnnotationAssertion(rdfs:label "verbal auditory agnosia"^^xsd:string) SubClassOf( ) # Class: (visual agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to visually recognize objects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531604"^^xsd:string) AnnotationAssertion( "monomodal visual amnesia"^^xsd:string) AnnotationAssertion( "primary visual agnosia"^^xsd:string) AnnotationAssertion( "visual agnosia for objects"^^xsd:string) AnnotationAssertion( "visual agnosias"^^xsd:string) AnnotationAssertion( "visual amnesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060155"^^xsd:string) AnnotationAssertion(rdfs:label "visual agnosia"^^xsd:string) SubClassOf( ) # Class: (visual verbal agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020237"^^xsd:string) AnnotationAssertion( "Alexia Syndrome Without Agraphia"^^xsd:string) AnnotationAssertion( "Alexia Without Agraphia"^^xsd:string) AnnotationAssertion( "Alexia, Pure"^^xsd:string) AnnotationAssertion( "Pure Alexia Without Agraphia"^^xsd:string) AnnotationAssertion( "Pure Alexias"^^xsd:string) AnnotationAssertion( "Pure Word Blindness"^^xsd:string) AnnotationAssertion( "Pure Word Blindnesses"^^xsd:string) AnnotationAssertion( "alexia without agraphias"^^xsd:string) AnnotationAssertion( "visual verbal agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060156"^^xsd:string) AnnotationAssertion(rdfs:label "visual verbal agnosia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse alopecia areata) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alopecia_areata"^^xsd:string) "An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531609"^^xsd:string) AnnotationAssertion( "MONDO:0000687"^^xsd:string) AnnotationAssertion( "Cazenave's vitiligo"^^xsd:string) AnnotationAssertion( "Celsus' Vitiligo"^^xsd:string) AnnotationAssertion( "Jonston's Alopecia"^^xsd:string) AnnotationAssertion( "alopecia celsi"^^xsd:string) AnnotationAssertion( "diffuse alopecia"^^xsd:string) AnnotationAssertion( "marginal alopecia"^^xsd:string) AnnotationAssertion( "patchy alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060157"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse alopecia areata"^^xsd:string) SubClassOf( ) # Class: (acquired metabolic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_error_of_metabolism"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/mesh/68008659"^^xsd:string) "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000639"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060158"^^xsd:string) AnnotationAssertion(rdfs:label "acquired metabolic disease"^^xsd:string) SubClassOf( ) # Class: (organic acidemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aciduria"^^xsd:string) "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9433"^^xsd:string) AnnotationAssertion( "organic acid metabolism disorder"^^xsd:string) AnnotationAssertion( "organic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060159"^^xsd:string) AnnotationAssertion(rdfs:label "organic acidemia"^^xsd:string) SubClassOf( ) # Class: (childhood spinal muscular atrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy"^^xsd:string) "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014897"^^xsd:string) AnnotationAssertion( "NCI:C85076"^^xsd:string) AnnotationAssertion( "ORDO:70"^^xsd:string) AnnotationAssertion( "spinal muscular atrophies of childhood"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy 1"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy of childhood"^^xsd:string) AnnotationAssertion( "survival motor neuron spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060160"^^xsd:string) AnnotationAssertion(rdfs:label "childhood spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kennedy's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kennedy_disease"^^xsd:string) "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537017"^^xsd:string) AnnotationAssertion( "MIM:313200"^^xsd:string) AnnotationAssertion( "GARD:6818"^^xsd:string) AnnotationAssertion( "MESH:D055534"^^xsd:string) AnnotationAssertion( "NCI:C85233"^^xsd:string) AnnotationAssertion( "KD"^^xsd:string) AnnotationAssertion( "Kennedy Syndrome"^^xsd:string) AnnotationAssertion( "Kennedy disease"^^xsd:string) AnnotationAssertion( "Kennedy spinal and bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "Kennedys disease"^^xsd:string) AnnotationAssertion( "SBMA"^^xsd:string) AnnotationAssertion( "SMAX1"^^xsd:string) AnnotationAssertion( "X linked bulbospinal muscular atrophy"^^xsd:string) AnnotationAssertion( "X-linked bulbo-spinal atrophies"^^xsd:string) AnnotationAssertion( "X-linked bulbo-spinal atrophy"^^xsd:string) AnnotationAssertion( "X-linked bulbospinal neuronopathy, recessive"^^xsd:string) AnnotationAssertion( "X-linked spinal and bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "X-linked spinal and bulbar muscular atrophy 1"^^xsd:string) AnnotationAssertion( "XBSN"^^xsd:string) AnnotationAssertion( "spinal and bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "spinal bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "spinobulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060161"^^xsd:string) AnnotationAssertion(rdfs:label "Kennedy's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dentatorubral-pallidoluysian atrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy"^^xsd:string) "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:125370"^^xsd:string) AnnotationAssertion( "ATN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ATN1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "congenital ATN1-related disorder"^^xsd:string) AnnotationAssertion( "GARD:5643"^^xsd:string) AnnotationAssertion( "MESH:C538427"^^xsd:string) AnnotationAssertion( "NCI:C122653"^^xsd:string) AnnotationAssertion( "DRPLA"^^xsd:string) AnnotationAssertion( "HRS"^^xsd:string) AnnotationAssertion( "Haw River syndrome"^^xsd:string) AnnotationAssertion( "Naito Oyanagi disease"^^xsd:string) AnnotationAssertion( "ataxia, chorea, seizures, and dementia"^^xsd:string) AnnotationAssertion( "myoclonic epilepsy with choreoathetosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060162"^^xsd:string) AnnotationAssertion(rdfs:label "dentatorubral-pallidoluysian atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (body dysmorphic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Body_dysmorphic_disorder"^^xsd:string) "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO)"^^xsd:string) AnnotationAssertion( "MESH:D057215"^^xsd:string) AnnotationAssertion( "Body Image Disfunction"^^xsd:string) AnnotationAssertion( "Body Image Disfunctions"^^xsd:string) AnnotationAssertion( "body dysmorphia"^^xsd:string) AnnotationAssertion( "body dysmorphic disorders"^^xsd:string) AnnotationAssertion( "body image disorder"^^xsd:string) AnnotationAssertion( "body image disorders"^^xsd:string) AnnotationAssertion( "dysmorphic syndrome"^^xsd:string) AnnotationAssertion( "dysmorphophobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "dysmorphic features"^^xsd:string) AnnotationAssertion( "DOID:0060163"^^xsd:string) AnnotationAssertion(rdfs:label "body dysmorphic disorder"^^xsd:string) SubClassOf( ) # Class: (pain disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pain_disorder"^^xsd:string) "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060164"^^xsd:string) AnnotationAssertion(rdfs:label "pain disorder"^^xsd:string) SubClassOf( ) # Class: (Kleine-Levin syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kleine-Levin_syndrome"^^xsd:string) "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148840"^^xsd:string) AnnotationAssertion( "EFO:1001354"^^xsd:string) AnnotationAssertion( "MESH:D017593"^^xsd:string) AnnotationAssertion( "Familial Kleine Levin Syndrome"^^xsd:string) AnnotationAssertion( "Kleine Levin Critchley Syndrome"^^xsd:string) AnnotationAssertion( "Kleine Levin Hibernation Syndrome"^^xsd:string) AnnotationAssertion( "Periodic Hypersomnia"^^xsd:string) AnnotationAssertion( "familial hibernation (Kleine-Levin) syndrome"^^xsd:string) AnnotationAssertion( "periodic hypersomnias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060165"^^xsd:string) AnnotationAssertion(rdfs:label "Kleine-Levin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bipolar ll disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bipolar_II"^^xsd:string) "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0080221"^^xsd:string) AnnotationAssertion( "MIM:309200"^^xsd:string) AnnotationAssertion( "EFO:0009964"^^xsd:string) AnnotationAssertion( "MESH:C564108"^^xsd:string) AnnotationAssertion( "MAFD2"^^xsd:string) AnnotationAssertion( "MDI"^^xsd:string) AnnotationAssertion( "MDX"^^xsd:string) AnnotationAssertion( "major affective disorder 2"^^xsd:string) AnnotationAssertion( "manic-depressive illness"^^xsd:string) AnnotationAssertion( "manic-depressive psychosis, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060166"^^xsd:string) AnnotationAssertion(rdfs:label "bipolar ll disorder"^^xsd:string) SubClassOf( ) # Class: (seasonal affective disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Seasonal_affective_disorder"^^xsd:string) "A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016574"^^xsd:string) AnnotationAssertion( "seasonal affective disorders"^^xsd:string) AnnotationAssertion( "seasonal mood disorder"^^xsd:string) AnnotationAssertion( "seasonal mood disorders"^^xsd:string) AnnotationAssertion( "winter depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060167"^^xsd:string) AnnotationAssertion(rdfs:label "seasonal affective disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histidinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Histidinemia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/histidinemia"^^xsd:string) "A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235800"^^xsd:string) AnnotationAssertion( "GARD:6661"^^xsd:string) AnnotationAssertion( "MESH:C538320"^^xsd:string) AnnotationAssertion( "HAL Deficiency"^^xsd:string) AnnotationAssertion( "HIS DEFICIENCY"^^xsd:string) AnnotationAssertion( "Histidase deficiency"^^xsd:string) AnnotationAssertion( "Histidine ammonia-lyase deficiency"^^xsd:string) AnnotationAssertion( "deficiency in histidase"^^xsd:string) AnnotationAssertion( "histidinuria"^^xsd:string) AnnotationAssertion( "hyperhistidinemia"^^xsd:string) AnnotationAssertion( "increased histidine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060168"^^xsd:string) AnnotationAssertion(rdfs:label "histidinemia"^^xsd:string) SubClassOf( ) # Class: (benign familial infantile epilepsy) AnnotationAssertion(Annotation( "PMID:12503648"^^xsd:string) "An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1518"^^xsd:string) AnnotationAssertion( "GARD:857"^^xsd:string) AnnotationAssertion( "MIM:PS601764"^^xsd:string) AnnotationAssertion( "NCI:C183308"^^xsd:string) AnnotationAssertion( "ORDO:306"^^xsd:string) AnnotationAssertion( "BFIC"^^xsd:string) AnnotationAssertion( "BFIE"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsion"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions syndrome"^^xsd:string) AnnotationAssertion( "benign familial infantile seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060169"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile epilepsy"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus) AnnotationAssertion(Annotation( "PMID:22011963"^^xsd:string) "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G40.3"^^xsd:string) AnnotationAssertion( "MESH:C565808"^^xsd:string) AnnotationAssertion( "MIM:PS604233"^^xsd:string) AnnotationAssertion( "MONDO:0018214"^^xsd:string) AnnotationAssertion( "ORDO:36387"^^xsd:string) AnnotationAssertion( "GEFS+"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060170"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (juvenile absence epilepsy) AnnotationAssertion(Annotation( "PMID:27986418"^^xsd:string) "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS607631"^^xsd:string) AnnotationAssertion( "NCI:C129868"^^xsd:string) AnnotationAssertion( "JAE"^^xsd:string) AnnotationAssertion( "juvenile absence epilepsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060172"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile absence epilepsy"^^xsd:string) SubClassOf( ) # Class: (Timothy syndrome) AnnotationAssertion(Annotation( "PMID:15863612"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1403/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/timothy-syndrome"^^xsd:string) "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601005"^^xsd:string) AnnotationAssertion( "CACNA1C-related disorder"^^xsd:string) AnnotationAssertion( "GARD:9294"^^xsd:string) AnnotationAssertion( "MESH:C536962"^^xsd:string) AnnotationAssertion( "ORDO:65283"^^xsd:string) AnnotationAssertion( "TS"^^xsd:string) AnnotationAssertion( "long QT syndrome with syndactyly"^^xsd:string) AnnotationAssertion( "TIMOTHY SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060173"^^xsd:string) AnnotationAssertion(rdfs:label "Timothy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GABA aminotransferase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms"^^xsd:string) "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535407"^^xsd:string) AnnotationAssertion( "MIM:613163"^^xsd:string) AnnotationAssertion( "MONDO:0013166"^^xsd:string) AnnotationAssertion( "4 alpha aminobutyrate transaminase deficiency"^^xsd:string) AnnotationAssertion( "GABA-transaminase deficiency"^^xsd:string) AnnotationAssertion( "Gamma aminobutyrate transaminase deficiency"^^xsd:string) AnnotationAssertion( "gamma aminobutyric acid transaminase deficiency"^^xsd:string) AnnotationAssertion( "gamma-amino butyric acid transaminase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060174"^^xsd:string) AnnotationAssertion(rdfs:label "GABA aminotransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (succinic semialdehyde dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism"^^xsd:string) "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:271980"^^xsd:string) AnnotationAssertion( "MESH:C535803"^^xsd:string) AnnotationAssertion( "NCI:C206527"^^xsd:string) AnnotationAssertion( "4-hydroxybutyric aciduria"^^xsd:string) AnnotationAssertion( "4-hydroxybutyricaciduria"^^xsd:string) AnnotationAssertion( "GABA metabolic defect"^^xsd:string) AnnotationAssertion( "SSADH"^^xsd:string) AnnotationAssertion( "SSADH deficiency"^^xsd:string) AnnotationAssertion( "SSADHD"^^xsd:string) AnnotationAssertion( "gamma-hydroxybutyric acidemia"^^xsd:string) AnnotationAssertion( "gamma-hydroxybutyric aciduria"^^xsd:string) AnnotationAssertion( "succinate-semialdehyde dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060175"^^xsd:string) AnnotationAssertion(rdfs:label "succinic semialdehyde dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gamma-amino butyric acid metabolism disorder) AnnotationAssertion(Annotation( "PMID:12891648"^^xsd:string) "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060176"^^xsd:string) AnnotationAssertion(rdfs:label "gamma-amino butyric acid metabolism disorder"^^xsd:string) SubClassOf( ) # Class: (homocarnosinosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carnosinemia"^^xsd:string) Annotation( "http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf"^^xsd:string) "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212200"^^xsd:string) AnnotationAssertion( "MIM:236130"^^xsd:string) AnnotationAssertion( "GARD:2730"^^xsd:string) AnnotationAssertion( "MESH:C535328"^^xsd:string) AnnotationAssertion( "NCI:C125661"^^xsd:string) AnnotationAssertion( "carnosinase deficiency"^^xsd:string) AnnotationAssertion( "carnosinemia"^^xsd:string) AnnotationAssertion( "homocarnosinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060177"^^xsd:string) AnnotationAssertion(rdfs:label "homocarnosinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemiplegic migraine) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine"^^xsd:string) "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10975"^^xsd:string) AnnotationAssertion( "ICD10CM:G43.8"^^xsd:string) AnnotationAssertion( "ICD9CM:346.8"^^xsd:string) AnnotationAssertion( "MIM:PS141500"^^xsd:string) AnnotationAssertion( "ORDO:569"^^xsd:string) AnnotationAssertion( "familial hemiplegic migraines"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060178"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemiplegic migraine"^^xsd:string) SubClassOf( ) # Class: (Renpenning syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renpenning%27s_syndrome"^^xsd:string) "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.5"^^xsd:string) AnnotationAssertion( "MESH:C537761"^^xsd:string) AnnotationAssertion( "MIM:309500"^^xsd:string) AnnotationAssertion( "MONDO:0010653"^^xsd:string) AnnotationAssertion( "NCI:C165533"^^xsd:string) AnnotationAssertion( "ORDO:3242"^^xsd:string) AnnotationAssertion( "Golabi-Ito-Hall syndrome"^^xsd:string) AnnotationAssertion( "Hamel Cerebropalatocardiac Syndrome"^^xsd:string) AnnotationAssertion( "MRX55"^^xsd:string) AnnotationAssertion( "MRXS3"^^xsd:string) AnnotationAssertion( "MRXS8"^^xsd:string) AnnotationAssertion( "PQBP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Porteous Syndrome"^^xsd:string) AnnotationAssertion( "RENS1"^^xsd:string) AnnotationAssertion( "Renpenning syndrome 1"^^xsd:string) AnnotationAssertion( "SHS"^^xsd:string) AnnotationAssertion( "Sutherland-Haan X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Sutherland-Haan syndrome"^^xsd:string) AnnotationAssertion( "X-linked intellectual deficit due to PQBP1 mutations"^^xsd:string) AnnotationAssertion( "X-linked intellectual deficit, Renpenning type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability due to PQBP1 mutations"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Renpenning type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation Renpenning type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndromic 3"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with spastic diplegia"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, 55"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060179"^^xsd:string) AnnotationAssertion(rdfs:label "Renpenning syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Colitis"^^xsd:string) "An inflammatory bowel disease that involves inflammation located_in colon. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003872"^^xsd:string) AnnotationAssertion( "MESH:D003092"^^xsd:string) AnnotationAssertion( "NCI:C26723"^^xsd:string) AnnotationAssertion( "colitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060180"^^xsd:string) AnnotationAssertion(rdfs:label "colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ischemic colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ischemic_colitis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677"^^xsd:string) "A colitis caused_by inadequate blood supply to the colon. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K55.9"^^xsd:string) AnnotationAssertion( "MESH:D017091"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060181"^^xsd:string) AnnotationAssertion(rdfs:label "ischemic colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microscopic colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Microscopic_colitis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis"^^xsd:string) "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001295"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.83"^^xsd:string) AnnotationAssertion( "MESH:D046728"^^xsd:string) AnnotationAssertion( "NCI:C38504"^^xsd:string) AnnotationAssertion( "ORDO:58220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060182"^^xsd:string) AnnotationAssertion(rdfs:label "microscopic colitis"^^xsd:string) SubClassOf( ) # Class: (collagenous colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Collagenous_colitis"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts"^^xsd:string) "A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001293"^^xsd:string) AnnotationAssertion( "GARD:6135"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.831"^^xsd:string) AnnotationAssertion( "MESH:D046729"^^xsd:string) AnnotationAssertion( "NCI:C27021"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060183"^^xsd:string) AnnotationAssertion(rdfs:label "collagenous colitis"^^xsd:string) SubClassOf( ) # Class: (lymphocytic colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphocytic_colitis"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts"^^xsd:string) "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001294"^^xsd:string) AnnotationAssertion( "GARD:6939"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.832"^^xsd:string) AnnotationAssertion( "MESH:D046730"^^xsd:string) AnnotationAssertion( "MONDO:0000704"^^xsd:string) AnnotationAssertion( "NCI:C27147"^^xsd:string) AnnotationAssertion( "ORDO:65279"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060184"^^xsd:string) AnnotationAssertion(rdfs:label "lymphocytic colitis"^^xsd:string) SubClassOf( ) # Class: (Clostridium difficile colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clostridium_difficile_colitis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm"^^xsd:string) "A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001314"^^xsd:string) AnnotationAssertion( "ICD10CM:A04.7"^^xsd:string) AnnotationAssertion( "MESH:D004761"^^xsd:string) AnnotationAssertion( "NCI:C128347"^^xsd:string) AnnotationAssertion( "antibiotic associated colitis"^^xsd:string) AnnotationAssertion( "clostridium enterocolitis"^^xsd:string) AnnotationAssertion( "pseudomembranous colitis"^^xsd:string) AnnotationAssertion( "pseudomembranous enteritis"^^xsd:string) AnnotationAssertion( "pseudomembranous enterocolitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060185"^^xsd:string) AnnotationAssertion(rdfs:label "Clostridium difficile colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chemical colitis) AnnotationAssertion(Annotation( "PMID:18209577"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Chemical_colitis"^^xsd:string) "A colitis caused_by introduction of various chemicals. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K52"^^xsd:string) AnnotationAssertion( "ICD9CM:558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060186"^^xsd:string) AnnotationAssertion(rdfs:label "chemical colitis"^^xsd:string) SubClassOf( ) # Class: (diversion colitis) AnnotationAssertion(Annotation( "PMID:1916483"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Diversion_colitis"^^xsd:string) "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060187"^^xsd:string) AnnotationAssertion(rdfs:label "diversion colitis"^^xsd:string) SubClassOf( ) # Class: (jejunoileitis) AnnotationAssertion(Annotation( "PMID:15973125"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string) "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K50.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060188"^^xsd:string) AnnotationAssertion(rdfs:label "jejunoileitis"^^xsd:string) SubClassOf( ) # Class: (ileitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ileitis"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D007079"^^xsd:string) AnnotationAssertion( "NCI:C84782"^^xsd:string) AnnotationAssertion( "Crohn's ileitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060189"^^xsd:string) AnnotationAssertion(rdfs:label "ileitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ileocolitis) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/9357-crohns-disease"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005624"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060190"^^xsd:string) AnnotationAssertion(rdfs:label "ileocolitis"^^xsd:string) SubClassOf( ) # Class: (gastroduodenal Crohn's disease) AnnotationAssertion(Annotation( "PMID:12769447"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "upper GI Crohn's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060191"^^xsd:string) AnnotationAssertion(rdfs:label "gastroduodenal Crohn's disease"^^xsd:string) SubClassOf( ) # Class: (Crohn's colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005622"^^xsd:string) AnnotationAssertion( "ICD10CM:K50.1"^^xsd:string) AnnotationAssertion( "ICD9CM:555.1"^^xsd:string) AnnotationAssertion( "NCI:C35211"^^xsd:string) AnnotationAssertion( "NCI:C37262"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060192"^^xsd:string) AnnotationAssertion(rdfs:label "Crohn's colitis"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 1) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105400"^^xsd:string) AnnotationAssertion( "MESH:C531617"^^xsd:string) AnnotationAssertion( "NCI:C168749"^^xsd:string) AnnotationAssertion( "ALS1"^^xsd:string) AnnotationAssertion( "FALS"^^xsd:string) AnnotationAssertion( "PRPH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1, familial"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, familial"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, autosomal dominant"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, dominant"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, sporadic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NEFH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DOID:0060193"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 2) AnnotationAssertion(Annotation( "MIM:205100"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO)"^^xsd:string) AnnotationAssertion( "ALSJ"^^xsd:string) AnnotationAssertion( "juvenile ALS"^^xsd:string) AnnotationAssertion( "GARD:9470"^^xsd:string) AnnotationAssertion( "MESH:C565957"^^xsd:string) AnnotationAssertion( "MIM:205100"^^xsd:string) AnnotationAssertion( "MONDO:0008780"^^xsd:string) AnnotationAssertion( "ALS2"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 2"^^xsd:string) AnnotationAssertion( "juvenile amyotrophic lateral sclerosis 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ALS2-related spectrum disorders"^^xsd:string) AnnotationAssertion( "DOID:0060194"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 2"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 3) AnnotationAssertion(Annotation( "MIM:606640"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10501"^^xsd:string) AnnotationAssertion( "MESH:C564688"^^xsd:string) AnnotationAssertion( "MIM:606640"^^xsd:string) AnnotationAssertion( "MONDO:0011691"^^xsd:string) AnnotationAssertion( "ALS3"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060195"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 3"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 4) AnnotationAssertion(Annotation( "MIM:602433"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)"^^xsd:string) AnnotationAssertion( "SETX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SETX-related disorder"^^xsd:string) AnnotationAssertion( "SETX-related disorders"^^xsd:string) AnnotationAssertion( "GARD:10502"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.2"^^xsd:string) AnnotationAssertion( "MESH:C566550"^^xsd:string) AnnotationAssertion( "MIM:602433"^^xsd:string) AnnotationAssertion( "MONDO:0011223"^^xsd:string) AnnotationAssertion( "ORDO:357043"^^xsd:string) AnnotationAssertion( "ALS 4"^^xsd:string) AnnotationAssertion( "ALS4"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 4"^^xsd:string) AnnotationAssertion( "dHMN with upper motor neuron signs"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy with pyramidal features"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy with pyramidal features"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy with upper motor neuron signs"^^xsd:string) AnnotationAssertion( "juvenile amyotrophic lateral sclerosis 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060196"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 4"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 5) AnnotationAssertion(Annotation( "MIM:602099"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602099"^^xsd:string) AnnotationAssertion( "GARD:10503"^^xsd:string) AnnotationAssertion( "MESH:C566576"^^xsd:string) AnnotationAssertion( "ALS5"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 5"^^xsd:string) AnnotationAssertion( "juvenile amyotrophic lateral sclerosis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060197"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 5"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 6) AnnotationAssertion(Annotation( "MIM:608030"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567699"^^xsd:string) AnnotationAssertion( "MIM:608030"^^xsd:string) AnnotationAssertion( "FUS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9874"^^xsd:string) AnnotationAssertion( "MESH:C538251"^^xsd:string) AnnotationAssertion( "NCI:C168750"^^xsd:string) AnnotationAssertion( "ALS6"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 6"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "autosomal recessive amyotrophic lateral sclerosis 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060198"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 7) AnnotationAssertion(Annotation( "MIM:608031"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10500"^^xsd:string) AnnotationAssertion( "MESH:C564300"^^xsd:string) AnnotationAssertion( "MIM:608031"^^xsd:string) AnnotationAssertion( "MONDO:0011952"^^xsd:string) AnnotationAssertion( "ALS7"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060199"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 7"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 9) AnnotationAssertion(Annotation( "MIM:611895"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO)"^^xsd:string) AnnotationAssertion( "ANG-related condition"^^xsd:string) AnnotationAssertion( "GARD:10498"^^xsd:string) AnnotationAssertion( "MESH:C567499"^^xsd:string) AnnotationAssertion( "MIM:611895"^^xsd:string) AnnotationAssertion( "MONDO:0012753"^^xsd:string) AnnotationAssertion( "ALS9"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060200"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 9"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 10) AnnotationAssertion(Annotation( "MIM:612069"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "TARDBP-related condition"^^xsd:string) AnnotationAssertion( "GARD:10497"^^xsd:string) AnnotationAssertion( "MESH:C567429"^^xsd:string) AnnotationAssertion( "MIM:612069"^^xsd:string) AnnotationAssertion( "MONDO:0012790"^^xsd:string) AnnotationAssertion( "NCI:C168752"^^xsd:string) AnnotationAssertion( "ALS10"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED"^^xsd:string) AnnotationAssertion( "FTLD-TDP, TARDBP-related"^^xsd:string) AnnotationAssertion( "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions"^^xsd:string) AnnotationAssertion( "DOID:0060201"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 10"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 11) AnnotationAssertion(Annotation( "MIM:612577"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612577"^^xsd:string) AnnotationAssertion( "GARD:10496"^^xsd:string) AnnotationAssertion( "MESH:C567244"^^xsd:string) AnnotationAssertion( "NCI:C168753"^^xsd:string) AnnotationAssertion( "ALS11"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060202"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 11"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 12) AnnotationAssertion(Annotation( "MIM:613435"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613435"^^xsd:string) AnnotationAssertion( "ALS12"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 12"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060203"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 12"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 13) AnnotationAssertion(Annotation( "MIM:183090"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004682"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:183090"^^xsd:string) "ALS13"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:183090"^^xsd:string) "amyotrophic lateral sclerosis 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060204"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 13"^^xsd:string) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 6) AnnotationAssertion(Annotation( "MIM:613954"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613954"^^xsd:string) AnnotationAssertion( "NCI:C168754"^^xsd:string) AnnotationAssertion( "ALS14"^^xsd:string) AnnotationAssertion( "FTDALS6"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 14"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 14 without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 14, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 14"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060205"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 6"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 15) AnnotationAssertion(Annotation( "MIM:300857"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300857"^^xsd:string) AnnotationAssertion( "ALS15"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 15"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060206"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 16) AnnotationAssertion(Annotation( "MIM:614373"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614373"^^xsd:string) AnnotationAssertion( "MONDO:0013715"^^xsd:string) AnnotationAssertion( "ALS16"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 16"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 16, juvenile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060207"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 16"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (amyotrophic lateral sclerosis type 18) AnnotationAssertion(Annotation( "MIM:614808"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614808"^^xsd:string) AnnotationAssertion( "ALS18"^^xsd:string) AnnotationAssertion( "PFN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060209"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 18"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 19) AnnotationAssertion(Annotation( "MIM:615515"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000975"^^xsd:string) AnnotationAssertion( "MIM:615515"^^xsd:string) AnnotationAssertion( "ALS19"^^xsd:string) AnnotationAssertion( "ERBB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060210"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 19"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 20) AnnotationAssertion(Annotation( "MIM:615426"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000807"^^xsd:string) AnnotationAssertion( "MIM:615426"^^xsd:string) AnnotationAssertion( "ALS20"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060211"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 20"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 21) AnnotationAssertion(Annotation( "MIM:606070"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606070"^^xsd:string) AnnotationAssertion( "MESH:C565262"^^xsd:string) AnnotationAssertion( "NCI:C168755"^^xsd:string) AnnotationAssertion( "ALS21"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS 21"^^xsd:string) AnnotationAssertion( "Distal Myopathy with Vocal Cord Weakness"^^xsd:string) AnnotationAssertion( "Matrin 3 Distal Myopathy"^^xsd:string) AnnotationAssertion( "Mpd2"^^xsd:string) AnnotationAssertion( "Myopathia Distalis Type 2"^^xsd:string) AnnotationAssertion( "VCPDM"^^xsd:string) AnnotationAssertion( "amyotropic lateral sclerosis 21"^^xsd:string) AnnotationAssertion( "distal myopathy 2"^^xsd:string) AnnotationAssertion( "distal myopathy with vocal cord and pharyngeal signs"^^xsd:string) AnnotationAssertion( "vocal cord and pharyngeal dysfunction with distal myopathy"^^xsd:string) AnnotationAssertion( "vocal cord and pharyngeal weakness with distal myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060212"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 21"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 1) AnnotationAssertion(Annotation( "MIM:105550"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566288"^^xsd:string) AnnotationAssertion( "MIM:105550"^^xsd:string) AnnotationAssertion( "MONDO:0007105"^^xsd:string) AnnotationAssertion( "NCI:C168756"^^xsd:string) AnnotationAssertion( "FTDALS1"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis and/or frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060213"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 1"^^xsd:string) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 2) AnnotationAssertion(Annotation( "MIM:615911"^^xsd:string) Annotation( "PMID:24934289"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615911"^^xsd:string) AnnotationAssertion( "FTDALS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060214"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 2"^^xsd:string) SubClassOf( ) # Class: (Balo concentric sclerosis) AnnotationAssertion(Annotation( "PMID:32140322"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Balo_concentric_sclerosis"^^xsd:string) Annotation( "https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/articles/PMC3110404/"^^xsd:string) "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5885"^^xsd:string) AnnotationAssertion( "ICD10CM:G37.0"^^xsd:string) AnnotationAssertion( "ICD9CM:341.1"^^xsd:string) AnnotationAssertion( "NCI:C84670"^^xsd:string) AnnotationAssertion( "Balo disease"^^xsd:string) AnnotationAssertion( "Balo's concentric sclerosis"^^xsd:string) AnnotationAssertion( "Tumefactive multiple sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060215"^^xsd:string) AnnotationAssertion(rdfs:label "Balo concentric sclerosis"^^xsd:string) SubClassOf( ) # Class: (Cogan syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cogan_syndrome"^^xsd:string) "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1421"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.32"^^xsd:string) AnnotationAssertion( "MESH:D055952"^^xsd:string) AnnotationAssertion( "ORDO:1467"^^xsd:string) AnnotationAssertion( "Cogan's Syndrome"^^xsd:string) AnnotationAssertion( "Cogans Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "diffuse interstitual keratitis"^^xsd:string) AnnotationAssertion( "DOID:0060216"^^xsd:string) AnnotationAssertion(rdfs:label "Cogan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cogan-Reese syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome"^^xsd:string) "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6125"^^xsd:string) AnnotationAssertion( "MONDO:0020370"^^xsd:string) AnnotationAssertion( "NCI:C84644"^^xsd:string) AnnotationAssertion( "ORDO:98980"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060217"^^xsd:string) AnnotationAssertion(rdfs:label "Cogan-Reese syndrome"^^xsd:string) SubClassOf( ) # Class: (CREST syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/CREST_syndrome"^^xsd:string) "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12430"^^xsd:string) AnnotationAssertion( "ICD10CM:M34.1"^^xsd:string) AnnotationAssertion( "MESH:D017675"^^xsd:string) AnnotationAssertion( "NCI:C70646"^^xsd:string) AnnotationAssertion( "CREST syndromes"^^xsd:string) AnnotationAssertion( "CRST Syndrome"^^xsd:string) AnnotationAssertion( "CRST syndromes"^^xsd:string) AnnotationAssertion( "Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia"^^xsd:string) AnnotationAssertion( "Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060218"^^xsd:string) AnnotationAssertion(rdfs:label "CREST syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymph node adenoid cystic carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/"^^xsd:string) "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "lymph node adenoid cystic cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060219"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (physical urticaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Physical_urticaria"^^xsd:string) Annotation( "http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string) "An urticaria induced by external physical influences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000754"^^xsd:string) AnnotationAssertion( "EFO:1001871"^^xsd:string) AnnotationAssertion( "EFO:1001881"^^xsd:string) AnnotationAssertion( "MONDO:0006599"^^xsd:string) AnnotationAssertion( "acquired cold urticaria"^^xsd:string) AnnotationAssertion( "cold urticaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060220"^^xsd:string) AnnotationAssertion(rdfs:label "physical urticaria"^^xsd:string) SubClassOf( ) # Class: (Maffucci syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Maffucci_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/maffucci-syndrome"^^xsd:string) "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003248"^^xsd:string) AnnotationAssertion( "GARD:6958"^^xsd:string) AnnotationAssertion( "MIM:614569"^^xsd:string) AnnotationAssertion( "ORDO:163634"^^xsd:string) AnnotationAssertion( "MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060221"^^xsd:string) AnnotationAssertion(rdfs:label "Maffucci syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Scheie syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scheie_syndrome"^^xsd:string) "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12561"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.0"^^xsd:string) AnnotationAssertion( "MIM:607016"^^xsd:string) AnnotationAssertion( "NCI:C61265"^^xsd:string) AnnotationAssertion( "ORDO:93474"^^xsd:string) AnnotationAssertion( "MPS V"^^xsd:string) AnnotationAssertion( "MPS1-S"^^xsd:string) AnnotationAssertion( "MPS5"^^xsd:string) AnnotationAssertion( "Scheie's syndrome"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis 5"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis I S"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis Is"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 1S"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IS"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060222"^^xsd:string) AnnotationAssertion(rdfs:label "Scheie syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agraphia) AnnotationAssertion(Annotation( "PMID:21507544"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Agraphia"^^xsd:string) "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000381"^^xsd:string) AnnotationAssertion( "Acquired Agraphia"^^xsd:string) AnnotationAssertion( "Acquired Dysgraphia"^^xsd:string) AnnotationAssertion( "Agraphias"^^xsd:string) AnnotationAssertion( "Constructional Agraphia"^^xsd:string) AnnotationAssertion( "Developmental Agraphia"^^xsd:string) AnnotationAssertion( "Developmental Agraphias"^^xsd:string) AnnotationAssertion( "Developmental Dysgraphia"^^xsd:string) AnnotationAssertion( "acquired agraphias"^^xsd:string) AnnotationAssertion( "acquired dysgraphias"^^xsd:string) AnnotationAssertion( "constructional agraphias"^^xsd:string) AnnotationAssertion( "developmental dysgraphias"^^xsd:string) AnnotationAssertion( "pure agraphia"^^xsd:string) AnnotationAssertion( "pure agraphias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060223"^^xsd:string) AnnotationAssertion(rdfs:label "agraphia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial fibrillation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atrial_fibrillation"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/af"^^xsd:string) "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000275"^^xsd:string) AnnotationAssertion( "ICD9CM:427.31"^^xsd:string) AnnotationAssertion( "MESH:D001281"^^xsd:string) AnnotationAssertion( "NCI:C50466"^^xsd:string) AnnotationAssertion( "A-fib"^^xsd:string) AnnotationAssertion( "AFib"^^xsd:string) AnnotationAssertion( "atrial fibrillations"^^xsd:string) AnnotationAssertion( "auricular fibrillation"^^xsd:string) AnnotationAssertion( "auricular fibrillations"^^xsd:string) AnnotationAssertion( "persistent atrial fibrillation"^^xsd:string) AnnotationAssertion( "persistent atrial fibrillations"^^xsd:string) AnnotationAssertion( "ATRIAL FIBRILLATION, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "atrial fibrillation, association with"^^xsd:string) AnnotationAssertion( "DOID:0060224"^^xsd:string) AnnotationAssertion(rdfs:label "atrial fibrillation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3MC syndrome) AnnotationAssertion(Annotation( "PMID:16096999"^^xsd:string) "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1118"^^xsd:string) AnnotationAssertion( "MIM:PS257920"^^xsd:string) AnnotationAssertion( "ORDO:293843"^^xsd:string) AnnotationAssertion( "Malpuech-Michels-Mingarelli-Carnevale syndrome"^^xsd:string) AnnotationAssertion( "craniofacial-ulnar-renal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060225"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofrontofacionasal dysostosis) AnnotationAssertion(Annotation( "PMID:2986457"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis"^^xsd:string) "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201180"^^xsd:string) AnnotationAssertion( "RDO:0004129"^^xsd:string) AnnotationAssertion( "MESH:C538186"^^xsd:string) AnnotationAssertion( "ORDO:1784"^^xsd:string) AnnotationAssertion( "AFFN dysostosis"^^xsd:string) AnnotationAssertion( "Acrofrontofacionasal Dysostosis Syndrome"^^xsd:string) AnnotationAssertion( "Richieri-Costa-Colletto syndrome"^^xsd:string) AnnotationAssertion( "acro fronto facio nasal dysostosis"^^xsd:string) AnnotationAssertion( "acrofrontofacionasal dysostosis 1"^^xsd:string) AnnotationAssertion( "cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly"^^xsd:string) AnnotationAssertion( "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060226"^^xsd:string) AnnotationAssertion(rdfs:label "acrofrontofacionasal dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adams-Oliver syndrome) AnnotationAssertion(Annotation( "PMID:18000904"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract"^^xsd:string) "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5739"^^xsd:string) AnnotationAssertion( "MESH:C538225"^^xsd:string) AnnotationAssertion( "MIM:PS100300"^^xsd:string) AnnotationAssertion( "ORDO:974"^^xsd:string) AnnotationAssertion( "AOS"^^xsd:string) AnnotationAssertion( "absence defect of limbs, scalp, and skull"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita with terminal transverse limb defects"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita, congenital heart defect, and frontonasal cysts"^^xsd:string) AnnotationAssertion( "aplasia cutis of the scalp"^^xsd:string) AnnotationAssertion( "congenital defect of skull and scalp"^^xsd:string) AnnotationAssertion( "congenital scalp defect"^^xsd:string) AnnotationAssertion( "congenital scalp defects with distal limb reduction anomalies"^^xsd:string) AnnotationAssertion( "familial aplasia cutis congenita of the scalp"^^xsd:string) AnnotationAssertion( "scalp and head syndrome"^^xsd:string) AnnotationAssertion( "scalp defects with ectrodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060227"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms"^^xsd:string) Annotation( "https://radiopaedia.org/articles/saccular-cerebral-aneurysm"^^xsd:string) "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS105800"^^xsd:string) AnnotationAssertion( "ORDO:231160"^^xsd:string) AnnotationAssertion( "familial aneurysmal subarachnoid hemorrhage"^^xsd:string) AnnotationAssertion( "familial berry aneurysm"^^xsd:string) AnnotationAssertion( "familial intracranial saccular aneurysm"^^xsd:string) AnnotationAssertion( "saccular cerebral aneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060228"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm"^^xsd:string) SubClassOf( ) # Class: (Baraitser-Winter syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome"^^xsd:string) "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5279"^^xsd:string) AnnotationAssertion( "MESH:C563904"^^xsd:string) AnnotationAssertion( "MESH:C565258"^^xsd:string) AnnotationAssertion( "MIM:PS243310"^^xsd:string) AnnotationAssertion( "ORDO:2995"^^xsd:string) AnnotationAssertion( "Fryns-Aftimos Syndrome"^^xsd:string) AnnotationAssertion( "cerebrofrontofacial syndrome"^^xsd:string) AnnotationAssertion( "cerebrooculofacial lymphatic syndrome"^^xsd:string) AnnotationAssertion( "mental retardation with epilepsy and characteristic facies"^^xsd:string) AnnotationAssertion( "pachygyria, mental retardation, epilepsy, and characteristic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060229"^^xsd:string) AnnotationAssertion(rdfs:label "Baraitser-Winter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basal ganglia calcification) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fahr%27s_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract"^^xsd:string) "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS213600"^^xsd:string) AnnotationAssertion( "NCI:C129973"^^xsd:string) AnnotationAssertion( "RDO:9004937"^^xsd:string) AnnotationAssertion( "Fahr disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060230"^^xsd:string) AnnotationAssertion(rdfs:label "basal ganglia calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bruck syndrome) AnnotationAssertion(Annotation( "PMID:9129737"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Bruck_syndrome"^^xsd:string) "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M21.8"^^xsd:string) AnnotationAssertion( "MIM:PS259450"^^xsd:string) AnnotationAssertion( "MONDO:0017195"^^xsd:string) AnnotationAssertion( "ORDO:2771"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with congenital joint contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060231"^^xsd:string) AnnotationAssertion(rdfs:label "Bruck syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (branchiootic syndrome) AnnotationAssertion(Annotation( "PMID:22901925"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract"^^xsd:string) "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10148"^^xsd:string) AnnotationAssertion( "MESH:C537104"^^xsd:string) AnnotationAssertion( "ORDO:52429"^^xsd:string) AnnotationAssertion( "BO syndrome"^^xsd:string) AnnotationAssertion( "BOR"^^xsd:string) AnnotationAssertion( "Branchiootic dysplasia"^^xsd:string) AnnotationAssertion( "INNER EAR MALFORMATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060232"^^xsd:string) AnnotationAssertion(rdfs:label "branchiootic syndrome"^^xsd:string) SubClassOf( ) # Class: (cardiofaciocutaneous syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract"^^xsd:string) "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9146"^^xsd:string) AnnotationAssertion( "MESH:C535579"^^xsd:string) AnnotationAssertion( "MIM:PS115150"^^xsd:string) AnnotationAssertion( "NCI:C84617"^^xsd:string) AnnotationAssertion( "ORDO:1340"^^xsd:string) AnnotationAssertion( "CFC syndrome"^^xsd:string) AnnotationAssertion( "CFCS"^^xsd:string) AnnotationAssertion( "cardio-facial-cutaneous syndrome"^^xsd:string) AnnotationAssertion( "cardio-facio-cutaneous syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060233"^^xsd:string) AnnotationAssertion(rdfs:label "cardiofaciocutaneous syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carpenter syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carpenter_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/carpenter-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract"^^xsd:string) "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6003"^^xsd:string) AnnotationAssertion( "MESH:C563187"^^xsd:string) AnnotationAssertion( "MIM:PS201000"^^xsd:string) AnnotationAssertion( "MONDO:0019012"^^xsd:string) AnnotationAssertion( "NCI:C98873"^^xsd:string) AnnotationAssertion( "ORDO:65759"^^xsd:string) AnnotationAssertion( "ACPS 2"^^xsd:string) AnnotationAssertion( "ACPS II"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type 2"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060234"^^xsd:string) AnnotationAssertion(rdfs:label "Carpenter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carnitine palmitoyltransferase II deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency"^^xsd:string) "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0000806"^^xsd:string) AnnotationAssertion( "CARNITINE DEFICIENCY"^^xsd:string) AnnotationAssertion( "MESH:C535589"^^xsd:string) AnnotationAssertion( "NCI:C114766"^^xsd:string) AnnotationAssertion( "ORDO:157"^^xsd:string) AnnotationAssertion( "CPT II deficiency"^^xsd:string) AnnotationAssertion( "CPT-II"^^xsd:string) AnnotationAssertion( "CPT2 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyl transferase 2 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyltransferase 2 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyltransferase deficiency type 2"^^xsd:string) AnnotationAssertion( "infantile carnitine palmitoyltransferase II deficiency"^^xsd:string) AnnotationAssertion( "lethal neonatal carnitine palmitoyltransferase II deficiency"^^xsd:string) AnnotationAssertion( "muscle form of carnitine palmitoyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060235"^^xsd:string) AnnotationAssertion(rdfs:label "carnitine palmitoyltransferase II deficiency"^^xsd:string) SubClassOf( ) # Class: (xanthinuria) AnnotationAssertion(Annotation( "PMID:4369449"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Xanthinuria"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/"^^xsd:string) "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS278300"^^xsd:string) AnnotationAssertion( "ORDO:3467"^^xsd:string) AnnotationAssertion( "XDH deficiency"^^xsd:string) AnnotationAssertion( "classic xanthinuria"^^xsd:string) AnnotationAssertion( "deficiency of xanthine oxidase"^^xsd:string) AnnotationAssertion( "hereditary xanthinuria"^^xsd:string) AnnotationAssertion( "xanthine dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "xanthine oxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060236"^^xsd:string) AnnotationAssertion(rdfs:label "xanthinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Warburg micro syndrome) AnnotationAssertion(Annotation( "PMID:22768674"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Micro_syndrome"^^xsd:string) "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001970"^^xsd:string) AnnotationAssertion( "MESH:C536681"^^xsd:string) AnnotationAssertion( "MIM:PS600118"^^xsd:string) AnnotationAssertion( "ORDO:2510"^^xsd:string) AnnotationAssertion( "WARBM"^^xsd:string) AnnotationAssertion( "Warburg Sjo Fledelius syndrome"^^xsd:string) AnnotationAssertion( "micro syndrome"^^xsd:string) AnnotationAssertion( "polyneuropathy, ocular abnormalities and neuronal vacuolation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060237"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg micro syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van Maldergem syndrome) AnnotationAssertion(Annotation( "PMID:1633641"^^xsd:string) "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5456"^^xsd:string) AnnotationAssertion( "MESH:C536530"^^xsd:string) AnnotationAssertion( "MIM:PS601390"^^xsd:string) AnnotationAssertion( "ORDO:314679"^^xsd:string) AnnotationAssertion( "Cerebro-facio-articular syndrome of Van Maldergem"^^xsd:string) AnnotationAssertion( "Cerebrofacioarticular syndrome"^^xsd:string) AnnotationAssertion( "Van Maldergem Wetzburger Verloes syndrome"^^xsd:string) AnnotationAssertion( "cerebro-facio-articular syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060238"^^xsd:string) AnnotationAssertion(rdfs:label "Van Maldergem syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van der Woude syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Van_der_Woude_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome"^^xsd:string) "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119300"^^xsd:string) AnnotationAssertion( "GARD:8414"^^xsd:string) AnnotationAssertion( "ICD10CM:Q38.0"^^xsd:string) AnnotationAssertion( "MESH:C536528"^^xsd:string) AnnotationAssertion( "NCI:C74986"^^xsd:string) AnnotationAssertion( "ORDO:888"^^xsd:string) AnnotationAssertion( "Cleft lip and-or palate with mucous cysts of lower lip"^^xsd:string) AnnotationAssertion( "LPS"^^xsd:string) AnnotationAssertion( "Lip pit syndrome"^^xsd:string) AnnotationAssertion( "PIT"^^xsd:string) AnnotationAssertion( "VAN DER WOUDE SYNDROME 1"^^xsd:string) AnnotationAssertion( "VDWS"^^xsd:string) AnnotationAssertion( "VWS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060239"^^xsd:string) AnnotationAssertion(rdfs:label "Van der Woude syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (UV-sensitive syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/UV-sensitive_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome"^^xsd:string) "A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563466"^^xsd:string) AnnotationAssertion( "MIM:PS600630"^^xsd:string) AnnotationAssertion( "ORDO:178338"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060240"^^xsd:string) AnnotationAssertion(rdfs:label "UV-sensitive syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3-M syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/3-M_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/3-m-syndrome"^^xsd:string) "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5667"^^xsd:string) AnnotationAssertion( "MESH:C535314"^^xsd:string) AnnotationAssertion( "MIM:PS273750"^^xsd:string) AnnotationAssertion( "ORDO:2616"^^xsd:string) AnnotationAssertion( "3M syndrome"^^xsd:string) AnnotationAssertion( "Gloomy Face Syndrome"^^xsd:string) AnnotationAssertion( "Le Merrer syndrome"^^xsd:string) AnnotationAssertion( "Miller-McKusick-Malvaux syndrome"^^xsd:string) AnnotationAssertion( "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)"^^xsd:string) AnnotationAssertion( "Three-M Slender-Boned Nanism"^^xsd:string) AnnotationAssertion( "Yakut short stature syndrome"^^xsd:string) AnnotationAssertion( "dolichospondylic dysplasia"^^xsd:string) AnnotationAssertion( "three-M syndrome"^^xsd:string) AnnotationAssertion( "GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060241"^^xsd:string) AnnotationAssertion(rdfs:label "3-M syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (synpolydactyly) AnnotationAssertion(Annotation( "PMID:18177473"^^xsd:string) Annotation( "PMID:8817328"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Synpolydactyly"^^xsd:string) "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5087"^^xsd:string) AnnotationAssertion( "NCI:C75003"^^xsd:string) AnnotationAssertion( "ORDO:295195"^^xsd:string) AnnotationAssertion( "ORDO:93403"^^xsd:string) AnnotationAssertion( "syndactyly type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060242"^^xsd:string) AnnotationAssertion(rdfs:label "synpolydactyly"^^xsd:string) SubClassOf( ) # Class: (stuttering) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stuttering"^^xsd:string) Annotation( "http://www.asha.org/public/speech/disorders/stuttering.htm"^^xsd:string) Annotation( "http://www.merriam-webster.com/dictionary/stutter"^^xsd:string) "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F80.81"^^xsd:string) AnnotationAssertion( "MESH:D013342"^^xsd:string) AnnotationAssertion( "MIM:PS184450"^^xsd:string) AnnotationAssertion( "NCI:C35043"^^xsd:string) AnnotationAssertion( "acquired stuttering"^^xsd:string) AnnotationAssertion( "adult stuttering"^^xsd:string) AnnotationAssertion( "childhood stuttering"^^xsd:string) AnnotationAssertion( "developmental stuttering"^^xsd:string) AnnotationAssertion( "familial persistent stuttering"^^xsd:string) AnnotationAssertion( "stammering"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060243"^^xsd:string) AnnotationAssertion(rdfs:label "stuttering"^^xsd:string) SubClassOf( ) # Class: (specific language impairment) AnnotationAssertion(Annotation( "PMID:19646677"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Specific_language_impairment"^^xsd:string) "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001510"^^xsd:string) AnnotationAssertion( "MESH:D000080888"^^xsd:string) AnnotationAssertion( "MIM:PS606711"^^xsd:string) AnnotationAssertion( "specific language disorder"^^xsd:string) AnnotationAssertion( "specific language disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060244"^^xsd:string) AnnotationAssertion(rdfs:label "specific language impairment"^^xsd:string) SubClassOf( ) # Class: (MAST syndrome) AnnotationAssertion(Annotation( "PMID:6024251"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/gene/SPG21"^^xsd:string) "A hereditary spastic paraplegia associated with dementia. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565409"^^xsd:string) AnnotationAssertion( "MIM:248900"^^xsd:string) AnnotationAssertion( "MONDO:0009568"^^xsd:string) AnnotationAssertion( "ORDO:101001"^^xsd:string) AnnotationAssertion( "SPG21"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 21"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 21"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060245"^^xsd:string) AnnotationAssertion(rdfs:label "MAST syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MASA syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/MASA_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/l1-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract"^^xsd:string) "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6986"^^xsd:string) AnnotationAssertion( "MESH:C536029"^^xsd:string) AnnotationAssertion( "MIM:303350"^^xsd:string) AnnotationAssertion( "MONDO:0010559"^^xsd:string) AnnotationAssertion( "NCI:C129930"^^xsd:string) AnnotationAssertion( "ORDO:2466"^^xsd:string) AnnotationAssertion( "Crash syndrome"^^xsd:string) AnnotationAssertion( "Gareis-Mason syndrome"^^xsd:string) AnnotationAssertion( "L1 syndrome"^^xsd:string) AnnotationAssertion( "MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome"^^xsd:string) AnnotationAssertion( "Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)"^^xsd:string) AnnotationAssertion( "Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs"^^xsd:string) AnnotationAssertion( "Spastic paraplegia 1, X-linked"^^xsd:string) AnnotationAssertion( "Spastic paraplegia, type 1"^^xsd:string) AnnotationAssertion( "Spg1"^^xsd:string) AnnotationAssertion( "X-linked complicated hereditary spastic paraplegia type 1"^^xsd:string) AnnotationAssertion( "X-linked corpus callosum agenesis"^^xsd:string) AnnotationAssertion( "X-linked hydrocephalus syndrome"^^xsd:string) AnnotationAssertion( "X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas)"^^xsd:string) AnnotationAssertion( "adducted thumb with mental retardation"^^xsd:string) AnnotationAssertion( "clasped thumb and mental retardation"^^xsd:string) AnnotationAssertion( "congenital clasped thumb with mental retardation"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060246"^^xsd:string) AnnotationAssertion(rdfs:label "MASA syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Smith-McCort dysplasia) AnnotationAssertion(Annotation( "PMID:1216821"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia"^^xsd:string) "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10620"^^xsd:string) AnnotationAssertion( "MESH:C564589"^^xsd:string) AnnotationAssertion( "MIM:PS607326"^^xsd:string) AnnotationAssertion( "ORDO:178355"^^xsd:string) AnnotationAssertion( "SMC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060247"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-McCort dysplasia"^^xsd:string) SubClassOf( ) # Class: (Simpson-Golabi-Behmel syndrome type 1) AnnotationAssertion(Annotation( "PMID:36720533"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome"^^xsd:string) "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312870"^^xsd:string) AnnotationAssertion( "GPC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7649"^^xsd:string) AnnotationAssertion( "MESH:C537340"^^xsd:string) AnnotationAssertion( "NCI:C118787"^^xsd:string) AnnotationAssertion( "ORDO:373"^^xsd:string) AnnotationAssertion( "DGSX"^^xsd:string) AnnotationAssertion( "DGSX Golabi-Rosen syndrome"^^xsd:string) AnnotationAssertion( "Golabi-Rosen syndrome"^^xsd:string) AnnotationAssertion( "SDYS"^^xsd:string) AnnotationAssertion( "SGB syndrome"^^xsd:string) AnnotationAssertion( "SGBS"^^xsd:string) AnnotationAssertion( "SGBS1"^^xsd:string) AnnotationAssertion( "Sara Angers syndrome"^^xsd:string) AnnotationAssertion( "Simpson dysmorphia syndrome"^^xsd:string) AnnotationAssertion( "Simpson dysplasia syndrome"^^xsd:string) AnnotationAssertion( "Simpson syndrome"^^xsd:string) AnnotationAssertion( "Simpson-Golabi-Behmel syndrome"^^xsd:string) AnnotationAssertion( "bulldog syndrome"^^xsd:string) AnnotationAssertion( "dysplasia gigantism syndrome, X-linked"^^xsd:string) AnnotationAssertion( "mental retardation-overgrowth syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060248"^^xsd:string) AnnotationAssertion(rdfs:label "Simpson-Golabi-Behmel syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scoliosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scoliosis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140"^^xsd:string) "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004273"^^xsd:string) AnnotationAssertion( "ICD10CM:M41.9"^^xsd:string) AnnotationAssertion( "MESH:D012600"^^xsd:string) AnnotationAssertion( "MONDO:0005392"^^xsd:string) AnnotationAssertion( "NCI:C78603"^^xsd:string) AnnotationAssertion( "scolioses"^^xsd:string) AnnotationAssertion( "congenital scoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060249"^^xsd:string) AnnotationAssertion(rdfs:label "scoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (idiopathic scoliosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scoliosis"^^xsd:string) "A scoliosis with no known cause. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005423"^^xsd:string) AnnotationAssertion( "GARD:552"^^xsd:string) AnnotationAssertion( "MIM:181800"^^xsd:string) AnnotationAssertion( "MIM:607354"^^xsd:string) AnnotationAssertion( "MIM:608765"^^xsd:string) AnnotationAssertion( "MIM:612238"^^xsd:string) AnnotationAssertion( "MIM:612239"^^xsd:string) AnnotationAssertion( "MONDO:0000726"^^xsd:string) AnnotationAssertion( "ADOLESCENT IDIOPATHIC SCOLIOSIS"^^xsd:string) AnnotationAssertion( "ADOLESCENT ISOLATED SCOLIOSIS"^^xsd:string) AnnotationAssertion( "AIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IS1"^^xsd:string) AnnotationAssertion( "IS2"^^xsd:string) AnnotationAssertion( "IS3"^^xsd:string) AnnotationAssertion( "IS4"^^xsd:string) AnnotationAssertion( "IS5"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 1"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 2"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 3"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 4"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 5"^^xsd:string) AnnotationAssertion( "idiopathic scoliosis, 3"^^xsd:string) AnnotationAssertion( "DOID:0060250"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic scoliosis"^^xsd:string) SubClassOf( ) # Class: (sclerosteosis) AnnotationAssertion(Annotation( "PMID:11836356"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance"^^xsd:string) "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0003382"^^xsd:string) AnnotationAssertion( "GARD:4771"^^xsd:string) AnnotationAssertion( "MESH:C537525"^^xsd:string) AnnotationAssertion( "MIM:PS269500"^^xsd:string) AnnotationAssertion( "NCI:C131133"^^xsd:string) AnnotationAssertion( "Cortical hyperostosis with syndactyly"^^xsd:string) AnnotationAssertion( "SOST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060251"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosteosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sclerocornea) AnnotationAssertion(Annotation( "PMID:3994576"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Sclerocornea"^^xsd:string) "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565209"^^xsd:string) AnnotationAssertion( "MONDO:0019629"^^xsd:string) AnnotationAssertion( "ORDO:91490"^^xsd:string) AnnotationAssertion( "isolated congenital sclerocornea"^^xsd:string) AnnotationAssertion( "SCLEROCORNEA, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060252"^^xsd:string) AnnotationAssertion(rdfs:label "sclerocornea"^^xsd:string) SubClassOf( ) # Class: (scapuloperoneal myopathy) AnnotationAssertion(Annotation( "PMID:28179901"^^xsd:string) "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536624"^^xsd:string) AnnotationAssertion( "MONDO:0000727"^^xsd:string) AnnotationAssertion( "scapuloperoneal muscular dystrophy"^^xsd:string) AnnotationAssertion( "scapuloperoneal syndrome, myopathic type"^^xsd:string) AnnotationAssertion( "MYH7-related late-onset scapuloperoneal muscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060253"^^xsd:string) AnnotationAssertion(rdfs:label "scapuloperoneal myopathy"^^xsd:string) SubClassOf( ) # Class: (Robinow syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Robinow_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/robinow-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract"^^xsd:string) "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0012199"^^xsd:string) AnnotationAssertion( "GARD:312"^^xsd:string) AnnotationAssertion( "MESH:C562492"^^xsd:string) AnnotationAssertion( "MIM:PS268310"^^xsd:string) AnnotationAssertion( "NCI:C85048"^^xsd:string) AnnotationAssertion( "Robinow dwarfism"^^xsd:string) AnnotationAssertion( "Robinow-Silverman-Smith syndrome"^^xsd:string) AnnotationAssertion( "acral dysostosis with facial and genital abnormalities"^^xsd:string) AnnotationAssertion( "autosomal dominant Robinow syndrome"^^xsd:string) AnnotationAssertion( "fetal face syndrome"^^xsd:string) AnnotationAssertion( "mesomelic dwarfism-small genitalia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060254"^^xsd:string) AnnotationAssertion(rdfs:label "Robinow syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rippling muscle disease 2) AnnotationAssertion(Annotation( "PMID:9537420"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/rippling-muscle-disease"^^xsd:string) "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110302"^^xsd:string) AnnotationAssertion( "MIM:606072"^^xsd:string) AnnotationAssertion( "GARD:9164"^^xsd:string) AnnotationAssertion( "MESH:C563362"^^xsd:string) AnnotationAssertion( "NCI:C148318"^^xsd:string) AnnotationAssertion( "NCI:C148325"^^xsd:string) AnnotationAssertion( "ORDO:265"^^xsd:string) AnnotationAssertion( "ORDO:97238"^^xsd:string) AnnotationAssertion( "LGMD1C"^^xsd:string) AnnotationAssertion( "RMD"^^xsd:string) AnnotationAssertion( "RMD2"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1C"^^xsd:string) AnnotationAssertion( "caveolinopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to caveolin-3 deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 1C"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 1C, autosomal recessive"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type IC"^^xsd:string) AnnotationAssertion( "rippling muscle disease 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060255"^^xsd:string) AnnotationAssertion(rdfs:label "rippling muscle disease 2"^^xsd:string) SubClassOf( ) # Class: (Dowling-Degos disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/dowling-degos-disease"^^xsd:string) "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9775"^^xsd:string) AnnotationAssertion( "MESH:C562924"^^xsd:string) AnnotationAssertion( "MIM:PS179850"^^xsd:string) AnnotationAssertion( "ORDO:79145"^^xsd:string) AnnotationAssertion( "DDD"^^xsd:string) AnnotationAssertion( "Dowling-Degos-Kitamura disease"^^xsd:string) AnnotationAssertion( "RPK"^^xsd:string) AnnotationAssertion( "acropigmentatio reticularis"^^xsd:string) AnnotationAssertion( "dark dot disease"^^xsd:string) AnnotationAssertion( "reticular pigment anomaly of flexures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060256"^^xsd:string) AnnotationAssertion(rdfs:label "Dowling-Degos disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dyschromatosis symmetrica hereditaria) AnnotationAssertion(Annotation( "PMID:22974014"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria"^^xsd:string) "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535729"^^xsd:string) AnnotationAssertion( "MIM:127400"^^xsd:string) AnnotationAssertion( "MONDO:0007483"^^xsd:string) AnnotationAssertion( "NCI:C118435"^^xsd:string) AnnotationAssertion( "ORDO:41"^^xsd:string) AnnotationAssertion( "DSH"^^xsd:string) AnnotationAssertion( "DSH1"^^xsd:string) AnnotationAssertion( "Dyschromatosis Symmetrica Hereditaria 1"^^xsd:string) AnnotationAssertion( "Familial reticulate acropigmentation of Dohi"^^xsd:string) AnnotationAssertion( "RAD"^^xsd:string) AnnotationAssertion( "reticulate acropigmentation of Dohi"^^xsd:string) AnnotationAssertion( "symmetric dyschromatosis of the extremities"^^xsd:string) AnnotationAssertion( "symmetrical dyschromatosis of extremities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060257"^^xsd:string) AnnotationAssertion(rdfs:label "dyschromatosis symmetrica hereditaria"^^xsd:string) SubClassOf( ) # Class: (reticulate acropigmentation of Kitamura) AnnotationAssertion(Annotation( "PMID:22808308"^^xsd:string) "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615537"^^xsd:string) AnnotationAssertion( "ORDO:178307"^^xsd:string) AnnotationAssertion( "Acropigmentatio Reticularis"^^xsd:string) AnnotationAssertion( "Kitamura Reticulate Acropigmentation"^^xsd:string) AnnotationAssertion( "RAK"^^xsd:string) AnnotationAssertion( "RAPK"^^xsd:string) AnnotationAssertion( "RPK"^^xsd:string) AnnotationAssertion( "Reticulate Pigmentation of Kitamura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060258"^^xsd:string) AnnotationAssertion(rdfs:label "reticulate acropigmentation of Kitamura"^^xsd:string) SubClassOf( ) # Class: (renal-hepatic-pancreatic dysplasia) AnnotationAssertion(Annotation( "PMID:17605805"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia"^^xsd:string) "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C567142"^^xsd:string) AnnotationAssertion( "MIM:PS208540"^^xsd:string) AnnotationAssertion( "ORDO:294415"^^xsd:string) AnnotationAssertion( "Ivemark's syndrome"^^xsd:string) AnnotationAssertion( "RHPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060259"^^xsd:string) AnnotationAssertion(rdfs:label "renal-hepatic-pancreatic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ptosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29"^^xsd:string) "An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.4"^^xsd:string) AnnotationAssertion( "ICD9CM:374.3"^^xsd:string) AnnotationAssertion( "MESH:D001763"^^xsd:string) AnnotationAssertion( "NCI:C27298"^^xsd:string) AnnotationAssertion( "Eyelid Ptoses"^^xsd:string) AnnotationAssertion( "blepharoptoses"^^xsd:string) AnnotationAssertion( "blepharoptosis"^^xsd:string) AnnotationAssertion( "drooping eyelid"^^xsd:string) AnnotationAssertion( "eyelid ptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060260"^^xsd:string) AnnotationAssertion(rdfs:label "ptosis"^^xsd:string) SubClassOf( ) # Class: (congenital ptosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29"^^xsd:string) Annotation( "https://eyewiki.aao.org/Ptosis,_Congenital"^^xsd:string) "A ptosis characterized by eyelid drop present at birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q10.0"^^xsd:string) AnnotationAssertion( "ICD9CM:743.61"^^xsd:string) AnnotationAssertion( "NCI:C27049"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060261"^^xsd:string) AnnotationAssertion(rdfs:label "congenital ptosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gallbladder_disease"^^xsd:string) "A gastrointestinal system disease that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0002740"^^xsd:string) AnnotationAssertion( "EFO:0003832"^^xsd:string) AnnotationAssertion( "ICD10CM:K82.9"^^xsd:string) AnnotationAssertion( "ICD9CM:575.9"^^xsd:string) AnnotationAssertion( "MESH:D005705"^^xsd:string) AnnotationAssertion( "MIM:PS600803"^^xsd:string) AnnotationAssertion( "NCI:C34631"^^xsd:string) AnnotationAssertion( "Gall Bladder Diseases"^^xsd:string) AnnotationAssertion( "gall bladder disease"^^xsd:string) AnnotationAssertion( "gallbladder diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060262"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder disease"^^xsd:string) SubClassOf( ) # Class: (porencephaly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebral_softening"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Porencephaly"^^xsd:string) "A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7430"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.6"^^xsd:string) AnnotationAssertion( "MESH:D065708"^^xsd:string) AnnotationAssertion( "ORDO:2940"^^xsd:string) AnnotationAssertion( "ADT1P"^^xsd:string) AnnotationAssertion( "Familial Porencephalic White Matter Disease"^^xsd:string) AnnotationAssertion( "Familial Porencephaly"^^xsd:string) AnnotationAssertion( "HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1"^^xsd:string) AnnotationAssertion( "Infantile Hemiplegia with Porencephaly"^^xsd:string) AnnotationAssertion( "POREN1"^^xsd:string) AnnotationAssertion( "T1P"^^xsd:string) AnnotationAssertion( "autosomal dominant porencephaly type 1"^^xsd:string) AnnotationAssertion( "congenital porencephaly"^^xsd:string) AnnotationAssertion( "developmental porencephaly"^^xsd:string) AnnotationAssertion( "encephaloclastic porencephaly"^^xsd:string) AnnotationAssertion( "porencephalies"^^xsd:string) AnnotationAssertion( "porencephaly 1"^^xsd:string) AnnotationAssertion( "porencephaly type 1"^^xsd:string) AnnotationAssertion( "post traumatic porencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060263"^^xsd:string) AnnotationAssertion(rdfs:label "porencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition"^^xsd:string) "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10977"^^xsd:string) AnnotationAssertion( "MESH:C580383"^^xsd:string) AnnotationAssertion( "MIM:PS607596"^^xsd:string) AnnotationAssertion( "PCH"^^xsd:string) AnnotationAssertion( "congenital pontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060264"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1A) AnnotationAssertion(Annotation( "PMID:12548734"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO)"^^xsd:string) AnnotationAssertion( "CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1"^^xsd:string) AnnotationAssertion( "MIM:607596"^^xsd:string) AnnotationAssertion( "MONDO:0011866"^^xsd:string) AnnotationAssertion( "ORDO:2254"^^xsd:string) AnnotationAssertion( "PCH1A"^^xsd:string) AnnotationAssertion( "pontocerebellar hypoplasia with anterior horn cell disease"^^xsd:string) AnnotationAssertion( "pontocerebellar hypoplasia with infantile spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS"^^xsd:string) AnnotationAssertion( "DOID:0060265"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1B) AnnotationAssertion(Annotation( "PMID:25149867"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO)"^^xsd:string) AnnotationAssertion( "NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA"^^xsd:string) AnnotationAssertion( "MIM:614678"^^xsd:string) AnnotationAssertion( "NCI:C190872"^^xsd:string) AnnotationAssertion( "EXOSC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PCH1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060266"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2A) AnnotationAssertion(Annotation( "MIM:277470"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)"^^xsd:string) AnnotationAssertion( "TSEN54-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3631"^^xsd:string) AnnotationAssertion( "MESH:C564738"^^xsd:string) AnnotationAssertion( "MIM:277470"^^xsd:string) AnnotationAssertion( "MONDO:0010190"^^xsd:string) AnnotationAssertion( "PCH2A"^^xsd:string) AnnotationAssertion( "Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy"^^xsd:string) AnnotationAssertion( "Volendam Neurodegenerative Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060267"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2B) AnnotationAssertion(Annotation( "MIM:612389"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567325"^^xsd:string) AnnotationAssertion( "MIM:612389"^^xsd:string) AnnotationAssertion( "MONDO:0012890"^^xsd:string) AnnotationAssertion( "PCH2B"^^xsd:string) AnnotationAssertion( "TSEN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060268"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2C) AnnotationAssertion(Annotation( "MIM:612390"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612390"^^xsd:string) AnnotationAssertion( "MESH:C567324"^^xsd:string) AnnotationAssertion( "PCH2C"^^xsd:string) AnnotationAssertion( "TSEN34-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060269"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2D) AnnotationAssertion(Annotation( "MIM:613811"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO)"^^xsd:string) AnnotationAssertion( "SEPSECS-related condition"^^xsd:string) AnnotationAssertion( "MIM:613811"^^xsd:string) AnnotationAssertion( "MONDO:0013438"^^xsd:string) AnnotationAssertion( "CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE"^^xsd:string) AnnotationAssertion( "PCCA"^^xsd:string) AnnotationAssertion( "PCH2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060270"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2E) AnnotationAssertion(Annotation( "MIM:615851"^^xsd:string) Annotation( "PMID:24577744"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "VPS53-related condition"^^xsd:string) AnnotationAssertion( "MIM:615851"^^xsd:string) AnnotationAssertion( "MONDO:0014370"^^xsd:string) AnnotationAssertion( "PCH2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060271"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 3) AnnotationAssertion(Annotation( "PMID:19277761"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. (DO)"^^xsd:string) AnnotationAssertion( "PCLO-related condition"^^xsd:string) AnnotationAssertion( "GARD:10708"^^xsd:string) AnnotationAssertion( "MESH:C548072"^^xsd:string) AnnotationAssertion( "MIM:608027"^^xsd:string) AnnotationAssertion( "MONDO:0011948"^^xsd:string) AnnotationAssertion( "ORDO:97249"^^xsd:string) AnnotationAssertion( "CLAM"^^xsd:string) AnnotationAssertion( "PCH with optic atrophy"^^xsd:string) AnnotationAssertion( "PCH3"^^xsd:string) AnnotationAssertion( "cerebellar atrophy with progressive microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060272"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 3"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 4) AnnotationAssertion(Annotation( "PMID:18711368"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225753"^^xsd:string) AnnotationAssertion( "TSEN54-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:343"^^xsd:string) AnnotationAssertion( "MESH:C536716"^^xsd:string) AnnotationAssertion( "ORDO:166063"^^xsd:string) AnnotationAssertion( "PCH4"^^xsd:string) AnnotationAssertion( "Young McKeever Squier syndrome"^^xsd:string) AnnotationAssertion( "fatal infantile encephalopathy with olivopontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "olivopontocerebellar hypoplasia lethal type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060273"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 4"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 5) AnnotationAssertion(Annotation( "PMID:16470708"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10709"^^xsd:string) AnnotationAssertion( "MESH:C537745"^^xsd:string) AnnotationAssertion( "MIM:610204"^^xsd:string) AnnotationAssertion( "MONDO:0012438"^^xsd:string) AnnotationAssertion( "ORDO:166068"^^xsd:string) AnnotationAssertion( "PCH5"^^xsd:string) AnnotationAssertion( "fetal-onset olivopontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060274"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 5"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 6) AnnotationAssertion(Annotation( "MIM:611523"^^xsd:string) Annotation( "PMID:17847012"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611523"^^xsd:string) AnnotationAssertion( "GARD:10710"^^xsd:string) AnnotationAssertion( "MESH:C548074"^^xsd:string) AnnotationAssertion( "ORDO:166073"^^xsd:string) AnnotationAssertion( "PCH6"^^xsd:string) AnnotationAssertion( "RARS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "fatal infantile encephalopathy with mitochondrial respiratory chain defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060275"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 6"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 7) AnnotationAssertion(Annotation( "MIM:614969"^^xsd:string) Annotation( "PMID:21594990"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614969"^^xsd:string) AnnotationAssertion( "MONDO:0013993"^^xsd:string) AnnotationAssertion( "ORDO:284339"^^xsd:string) AnnotationAssertion( "PCH7"^^xsd:string) AnnotationAssertion( "TOE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060276"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 7"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 8) AnnotationAssertion(Annotation( "PMID:23023333"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614961"^^xsd:string) AnnotationAssertion( "ORDO:324569"^^xsd:string) AnnotationAssertion( "CHMP1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PCH8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060277"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 8"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 9) AnnotationAssertion(Annotation( "PMID:23911318"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO)"^^xsd:string) AnnotationAssertion( "AMPD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615809"^^xsd:string) AnnotationAssertion( "MONDO:0014351"^^xsd:string) AnnotationAssertion( "ORDO:369920"^^xsd:string) AnnotationAssertion( "PCH9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060278"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 9"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 10) AnnotationAssertion(Annotation( "PMID:24766809"^^xsd:string) Annotation( "PMID:24766810"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001048"^^xsd:string) AnnotationAssertion( "MIM:615803"^^xsd:string) AnnotationAssertion( "ORDO:411493"^^xsd:string) AnnotationAssertion( "CLP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PCH10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060279"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 10"^^xsd:string) SubClassOf( ) # Class: (primary pigmented nodular adrenocortical disease) AnnotationAssertion(Annotation( "PMID:2212318"^^xsd:string) "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10906"^^xsd:string) AnnotationAssertion( "MIM:PS610489"^^xsd:string) AnnotationAssertion( "MONDO:0015999"^^xsd:string) AnnotationAssertion( "ORDO:189439"^^xsd:string) AnnotationAssertion( "ORDO:647772"^^xsd:string) AnnotationAssertion( "PPNAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060280"^^xsd:string) AnnotationAssertion(rdfs:label "primary pigmented nodular adrenocortical disease"^^xsd:string) SubClassOf( ) # Class: (photosensitive epilepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Photosensitive_epilepsy"^^xsd:string) "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5648"^^xsd:string) AnnotationAssertion( "MIM:PS132100"^^xsd:string) AnnotationAssertion( "ORDO:166409"^^xsd:string) AnnotationAssertion( "RDO:9004946"^^xsd:string) AnnotationAssertion( "PSE"^^xsd:string) AnnotationAssertion( "photogenic epilepsy"^^xsd:string) AnnotationAssertion( "photoparoxysmal response"^^xsd:string) AnnotationAssertion( "photosensitive epilepsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060281"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitive epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (persistent hyperplastic primary vitreous) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous"^^xsd:string) "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D054514"^^xsd:string) AnnotationAssertion( "MIM:PS221900"^^xsd:string) AnnotationAssertion( "NCI:C161554"^^xsd:string) AnnotationAssertion( "ORDO:91495"^^xsd:string) AnnotationAssertion( "Persistent Hyaloid Artery"^^xsd:string) AnnotationAssertion( "persistent fetal vasculature syndrome"^^xsd:string) AnnotationAssertion( "persistent hyaloid arteries"^^xsd:string) AnnotationAssertion( "persistent hyaloid vasculature"^^xsd:string) AnnotationAssertion( "persistent hyaloid vasculatures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060282"^^xsd:string) AnnotationAssertion(rdfs:label "persistent hyperplastic primary vitreous"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peeling skin syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/peeling-skin-syndrome/"^^xsd:string) "A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7347"^^xsd:string) AnnotationAssertion( "MESH:C564818"^^xsd:string) AnnotationAssertion( "MIM:PS270300"^^xsd:string) AnnotationAssertion( "ORDO:263543"^^xsd:string) AnnotationAssertion( "ORDO:817"^^xsd:string) AnnotationAssertion( "PSS"^^xsd:string) AnnotationAssertion( "deciduous skin"^^xsd:string) AnnotationAssertion( "familial continuous generalized skin peeling"^^xsd:string) AnnotationAssertion( "familial continuous skin peeling syndrome"^^xsd:string) AnnotationAssertion( "keratolysis exfoliativa congenita"^^xsd:string) AnnotationAssertion( "keratosis exfoliativa congenita"^^xsd:string) AnnotationAssertion( "peeling skin disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060283"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paroxysmal nocturnal hemoglobinuria) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria"^^xsd:string) "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615749"^^xsd:string) AnnotationAssertion( "C5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7337"^^xsd:string) AnnotationAssertion( "ICD10CM:D59.5"^^xsd:string) AnnotationAssertion( "ICD10CM:D59.6"^^xsd:string) AnnotationAssertion( "MESH:D006457"^^xsd:string) AnnotationAssertion( "MIM:PS300818"^^xsd:string) AnnotationAssertion( "NCI:C61233"^^xsd:string) AnnotationAssertion( "ORDO:447"^^xsd:string) AnnotationAssertion( "Marchiafava Micheli Syndrome"^^xsd:string) AnnotationAssertion( "cold paroxysmal hemoglobinuria"^^xsd:string) AnnotationAssertion( "paroxysmal hemoglobinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ECULIZUMAB, POOR RESPONSE TO"^^xsd:string) AnnotationAssertion( "DOID:0060284"^^xsd:string) AnnotationAssertion(rdfs:label "paroxysmal nocturnal hemoglobinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parietal foramina) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina"^^xsd:string) "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566826"^^xsd:string) AnnotationAssertion( "MIM:PS168500"^^xsd:string) AnnotationAssertion( "MONDO:0018953"^^xsd:string) AnnotationAssertion( "ORDO:60015"^^xsd:string) AnnotationAssertion( "Caitlin marks"^^xsd:string) AnnotationAssertion( "Catlin marks"^^xsd:string) AnnotationAssertion( "Cranium Bifidum Occultum"^^xsd:string) AnnotationAssertion( "Cranium Bifidum, Hereditary"^^xsd:string) AnnotationAssertion( "Enlarged Parietal Foramina"^^xsd:string) AnnotationAssertion( "FPP"^^xsd:string) AnnotationAssertion( "PFM"^^xsd:string) AnnotationAssertion( "foramina parietalia permagna"^^xsd:string) AnnotationAssertion( "symmetric parietal foramina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060285"^^xsd:string) AnnotationAssertion(rdfs:label "parietal foramina"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency"^^xsd:string) "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12893"^^xsd:string) AnnotationAssertion( "MIM:PS609060"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060286"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency"^^xsd:string) SubClassOf( ) # Class: (cornea plana) AnnotationAssertion(Annotation( "https://disorders.eyes.arizona.edu/handouts/cornea-plana"^^xsd:string) "A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS121400"^^xsd:string) AnnotationAssertion( "MONDO:0000733"^^xsd:string) AnnotationAssertion( "ORDO:53691"^^xsd:string) AnnotationAssertion( "flat cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060287"^^xsd:string) AnnotationAssertion(rdfs:label "cornea plana"^^xsd:string) SubClassOf( ) # Class: (omodysplasia) AnnotationAssertion(Annotation( "PMID:12210345"^^xsd:string) "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS258315"^^xsd:string) AnnotationAssertion( "ORDO:2733"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060288"^^xsd:string) AnnotationAssertion(rdfs:label "omodysplasia"^^xsd:string) SubClassOf( ) # Class: (Ohdo syndrome) AnnotationAssertion(Annotation( "PMID:16700052"^^xsd:string) "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3348"^^xsd:string) AnnotationAssertion( "MESH:C536232"^^xsd:string) AnnotationAssertion( "MESH:C537838"^^xsd:string) AnnotationAssertion( "MIM:249620"^^xsd:string) AnnotationAssertion( "MONDO:0000734"^^xsd:string) AnnotationAssertion( "ORDO:2728"^^xsd:string) AnnotationAssertion( "Blepharophimosis Syndrome Ohdo Type"^^xsd:string) AnnotationAssertion( "Ohdo Blepharophimosis syndrome"^^xsd:string) AnnotationAssertion( "Ohdo-Madokoro-Sonoda syndrome"^^xsd:string) AnnotationAssertion( "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth"^^xsd:string) AnnotationAssertion( "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060289"^^xsd:string) AnnotationAssertion(rdfs:label "Ohdo syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ohdo syndrome, SBBYS variant) AnnotationAssertion(Annotation( "PMID:22077973"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes"^^xsd:string) "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "KAT6B-related spectrum disorder"^^xsd:string) AnnotationAssertion( "KAT6B-related spectrum disorders"^^xsd:string) AnnotationAssertion( "autosomal dominant KAT6B-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C536717"^^xsd:string) AnnotationAssertion( "MIM:603736"^^xsd:string) AnnotationAssertion( "MONDO:0011365"^^xsd:string) AnnotationAssertion( "NCI:C206524"^^xsd:string) AnnotationAssertion( "ORDO:3047"^^xsd:string) AnnotationAssertion( "BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "Mental retardation unusual facies hypothyroidism"^^xsd:string) AnnotationAssertion( "Ohdo Syndrome, Say-Barber-Biesecker Variant"^^xsd:string) AnnotationAssertion( "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant"^^xsd:string) AnnotationAssertion( "SBBYS variant of Ohdo syndrome"^^xsd:string) AnnotationAssertion( "SBBYSS"^^xsd:string) AnnotationAssertion( "Say-Barber-Biesecker-Young-Simpson syndrome"^^xsd:string) AnnotationAssertion( "Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome"^^xsd:string) AnnotationAssertion( "YSS"^^xsd:string) AnnotationAssertion( "Young Simpson syndrome"^^xsd:string) AnnotationAssertion( "blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type"^^xsd:string) AnnotationAssertion( "blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type"^^xsd:string) AnnotationAssertion( "blepharophimosis-intellectual disability syndrome, SBBYS type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060290"^^xsd:string) AnnotationAssertion(rdfs:label "Ohdo syndrome, SBBYS variant"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculodentodigital dysplasia) AnnotationAssertion(Annotation( "PMID:12021949"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia"^^xsd:string) "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:164200"^^xsd:string) AnnotationAssertion( "GARD:7239"^^xsd:string) AnnotationAssertion( "MESH:C563160"^^xsd:string) AnnotationAssertion( "ORDO:2710"^^xsd:string) AnnotationAssertion( "ODD Syndrome"^^xsd:string) AnnotationAssertion( "ODDD"^^xsd:string) AnnotationAssertion( "ODOD"^^xsd:string) AnnotationAssertion( "Oculo-Dento-Osseous Dysplasia"^^xsd:string) AnnotationAssertion( "Oculodentodigital Syndrome"^^xsd:string) AnnotationAssertion( "Oculodentoosseous Dysplasia"^^xsd:string) AnnotationAssertion( "oculo-dento-digital dysplasia"^^xsd:string) AnnotationAssertion( "osseous-oculo-dental dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060291"^^xsd:string) AnnotationAssertion(rdfs:label "oculodentodigital dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked chondrodysplasia punctata 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata"^^xsd:string) "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:302950"^^xsd:string) AnnotationAssertion( "MIM:602497"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.3"^^xsd:string) AnnotationAssertion( "MESH:C580533"^^xsd:string) AnnotationAssertion( "ORDO:35173"^^xsd:string) AnnotationAssertion( "Brachytelephalangic Chondrodysplasia Punctata"^^xsd:string) AnnotationAssertion( "CDPX1"^^xsd:string) AnnotationAssertion( "CPXR"^^xsd:string) AnnotationAssertion( "X-linked recessive chondrodysplasia punctata 1"^^xsd:string) AnnotationAssertion( "arylsulfatase E deficiency"^^xsd:string) AnnotationAssertion( "chondrodystrophia calcificans congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "brachytelephalangic chondrodysplasia punctata, autosomal"^^xsd:string) AnnotationAssertion( "DOID:0060292"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked chondrodysplasia punctata 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant chondrodysplasia punctata) AnnotationAssertion(Annotation( "MIM:118650"^^xsd:string) "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118650"^^xsd:string) AnnotationAssertion( "RDO:0012576"^^xsd:string) AnnotationAssertion( "MESH:C563248"^^xsd:string) AnnotationAssertion( "ORDO:79344"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata due to vitamin K deficiency"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata due to warfarin teratogenicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060293"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant chondrodysplasia punctata"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cold-induced sweating syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome"^^xsd:string) "A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C536214"^^xsd:string) AnnotationAssertion( "MIM:PS272430"^^xsd:string) AnnotationAssertion( "ORDO:157820"^^xsd:string) AnnotationAssertion( "CISS"^^xsd:string) AnnotationAssertion( "CNTF receptor-related disorders"^^xsd:string) AnnotationAssertion( "Crisponi syndrome"^^xsd:string) AnnotationAssertion( "Sohar-Crisponi syndrome"^^xsd:string) AnnotationAssertion( "cold-induced sweating"^^xsd:string) AnnotationAssertion( "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060294"^^xsd:string) AnnotationAssertion(rdfs:label "cold-induced sweating syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (complement component 2 deficiency) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO)"^^xsd:string) AnnotationAssertion( "C2-related condition"^^xsd:string) AnnotationAssertion( "C2-related disorder"^^xsd:string) AnnotationAssertion( "GARD:1452"^^xsd:string) AnnotationAssertion( "MIM:217000"^^xsd:string) AnnotationAssertion( "MONDO:0009006"^^xsd:string) AnnotationAssertion( "C2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "C2D"^^xsd:string) AnnotationAssertion( "C2 DEFICIENCY, TYPE I"^^xsd:string) AnnotationAssertion( "C2 DEFICIENCY, TYPE II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060295"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 2 deficiency"^^xsd:string) SubClassOf( ) # Class: (congenital secretory chloride diarrhea 1) AnnotationAssertion(Annotation( "PMID:19861545"^^xsd:string) "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "SLC26A3-related condition"^^xsd:string) AnnotationAssertion( "MESH:C536210"^^xsd:string) AnnotationAssertion( "MIM:214700"^^xsd:string) AnnotationAssertion( "MONDO:0008964"^^xsd:string) AnnotationAssertion( "ORDO:53689"^^xsd:string) AnnotationAssertion( "CONGENITAL SECRETORY DIARRHEA, CHLORIDE TYPE"^^xsd:string) AnnotationAssertion( "DIAR1"^^xsd:string) AnnotationAssertion( "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL"^^xsd:string) AnnotationAssertion( "Darrow-Gamble disease"^^xsd:string) AnnotationAssertion( "congenital chloride diarrhea"^^xsd:string) AnnotationAssertion( "congenital chloride diarrhea, Finnish type"^^xsd:string) AnnotationAssertion( "congenital chloride diarrhoea Finnish type"^^xsd:string) AnnotationAssertion( "congenital chloridorrhea"^^xsd:string) AnnotationAssertion( "congenital secretory chloride diarrhoea 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060296"^^xsd:string) AnnotationAssertion(rdfs:label "congenital secretory chloride diarrhea 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (complement component 4A deficiency) AnnotationAssertion(Annotation( "MIM:614380"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614380"^^xsd:string) AnnotationAssertion( "MESH:C565167"^^xsd:string) AnnotationAssertion( "C4A Deficiency"^^xsd:string) AnnotationAssertion( "C4AD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060297"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 4A deficiency"^^xsd:string) SubClassOf( ) # Class: (complement component 4B deficiency) AnnotationAssertion(Annotation( "MIM:614379"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614379"^^xsd:string) AnnotationAssertion( "ORDO:169147"^^xsd:string) AnnotationAssertion( "C4B DEFICIENCY"^^xsd:string) AnnotationAssertion( "C4BD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060298"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 4B deficiency"^^xsd:string) SubClassOf( ) # Class: (complement component 6 deficiency) AnnotationAssertion(Annotation( "MIM:612446"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)"^^xsd:string) AnnotationAssertion( "C6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567307"^^xsd:string) AnnotationAssertion( "MIM:612446"^^xsd:string) AnnotationAssertion( "MONDO:0012908"^^xsd:string) AnnotationAssertion( "C6 Deficiency"^^xsd:string) AnnotationAssertion( "C6D"^^xsd:string) AnnotationAssertion( "C6 deficiency, subtotal"^^xsd:string) AnnotationAssertion( "complement component 6 deficiency, subtotal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060299"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 6 deficiency"^^xsd:string) SubClassOf( ) # Class: (complement component 7 deficiency) AnnotationAssertion(Annotation( "MIM:610102"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610102"^^xsd:string) AnnotationAssertion( "MESH:C566443"^^xsd:string) AnnotationAssertion( "ORDO:1695150"^^xsd:string) AnnotationAssertion( "C7 deficiency"^^xsd:string) AnnotationAssertion( "C7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "C7D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060300"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 7 deficiency"^^xsd:string) SubClassOf( ) # Class: (type I complement component 8 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency"^^xsd:string) "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613790"^^xsd:string) AnnotationAssertion( "C8 ALPHA-GAMMA DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8 deficiency type I"^^xsd:string) AnnotationAssertion( "C8A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "C8AG DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8D1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "complement component 8, alpha subunit, A/B polymorphism"^^xsd:string) AnnotationAssertion( "DOID:0060301"^^xsd:string) AnnotationAssertion(rdfs:label "type I complement component 8 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (type II complement component 8 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency"^^xsd:string) "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613789"^^xsd:string) AnnotationAssertion( "C8 BETA DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8 deficiency type II"^^xsd:string) AnnotationAssertion( "C8B DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "C8D2"^^xsd:string) AnnotationAssertion( "COMPLEMENT COMPONENT 8B DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060302"^^xsd:string) AnnotationAssertion(rdfs:label "type II complement component 8 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complement component 9 deficiency) AnnotationAssertion(Annotation( "MIM:613825"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)"^^xsd:string) AnnotationAssertion( "C9-related condition"^^xsd:string) AnnotationAssertion( "ICD10CM:D84.1"^^xsd:string) AnnotationAssertion( "MESH:C565165"^^xsd:string) AnnotationAssertion( "MIM:613825"^^xsd:string) AnnotationAssertion( "MONDO:0013445"^^xsd:string) AnnotationAssertion( "ORDO:169150"^^xsd:string) AnnotationAssertion( "C9 deficiency"^^xsd:string) AnnotationAssertion( "C9D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060303"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 9 deficiency"^^xsd:string) SubClassOf( ) # Class: (dyschromatosis universalis hereditaria) AnnotationAssertion(Annotation( "PMID:12372090"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria"^^xsd:string) "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1996"^^xsd:string) AnnotationAssertion( "MESH:C535730"^^xsd:string) AnnotationAssertion( "MIM:PS127500"^^xsd:string) AnnotationAssertion( "NCI:C173131"^^xsd:string) AnnotationAssertion( "ORDO:241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060304"^^xsd:string) AnnotationAssertion(rdfs:label "dyschromatosis universalis hereditaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megalocornea) AnnotationAssertion(Annotation( "PMID:6849653"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Megalocornea"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/gene/CHRDL1"^^xsd:string) "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:249300"^^xsd:string) AnnotationAssertion( "MIM:309300"^^xsd:string) AnnotationAssertion( "MESH:C562829"^^xsd:string) AnnotationAssertion( "ORDO:91489"^^xsd:string) AnnotationAssertion( "CHRDL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MGC1"^^xsd:string) AnnotationAssertion( "MGCN"^^xsd:string) AnnotationAssertion( "anterior megalophthalmos"^^xsd:string) AnnotationAssertion( "congenital anterior megalophthalmia"^^xsd:string) AnnotationAssertion( "ISOLATED CONGENITAL MEGALOCORNEA"^^xsd:string) AnnotationAssertion( "X-linked megalocornea 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060305"^^xsd:string) AnnotationAssertion(rdfs:label "megalocornea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome) AnnotationAssertion(Annotation( "PMID:14564153"^^xsd:string) Annotation( "PMID:37059840"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/"^^xsd:string) "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2033"^^xsd:string) AnnotationAssertion( "MESH:C538012"^^xsd:string) AnnotationAssertion( "MIM:PS224690"^^xsd:string) AnnotationAssertion( "ORDO:2554"^^xsd:string) AnnotationAssertion( "EPS"^^xsd:string) AnnotationAssertion( "ear, patella, short stature syndrome"^^xsd:string) AnnotationAssertion( "microtia, absent patellae, micrognathia syndrome"^^xsd:string) AnnotationAssertion( "DONSON-RELATED MEIER-GORLIN SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060306"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder) AnnotationAssertion(Annotation( "PMID:21124998"^^xsd:string) "A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12107"^^xsd:string) AnnotationAssertion( "MIM:PS156200"^^xsd:string) AnnotationAssertion( "ORDO:178469"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060307"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder) AnnotationAssertion(Annotation( "PMID:21124998"^^xsd:string) "A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS249500"^^xsd:string) AnnotationAssertion( "ORDO:88616"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation"^^xsd:string) AnnotationAssertion( "autosomal recessive non-syndromic intellectual disability"^^xsd:string) AnnotationAssertion( "autosomal recessive non-syndromic mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060308"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/X-linked_intellectual_disability"^^xsd:string) "A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS309510"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060309"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uvulitis) AnnotationAssertion(Annotation( "PMID:8285973"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation"^^xsd:string) "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K12.2"^^xsd:string) AnnotationAssertion( "acute uvulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060310"^^xsd:string) AnnotationAssertion(rdfs:label "uvulitis"^^xsd:string) SubClassOf( ) # Class: (adenoid hypertrophy) AnnotationAssertion(Annotation( "PMID:21126775"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenoid_hypertrophy"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm"^^xsd:string) "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J35.2"^^xsd:string) AnnotationAssertion( "ICD9CM:474.12"^^xsd:string) AnnotationAssertion( "RDO:9004969"^^xsd:string) AnnotationAssertion( "adenoidal hypertrophy"^^xsd:string) AnnotationAssertion( "enlarged adenoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060311"^^xsd:string) AnnotationAssertion(rdfs:label "adenoid hypertrophy"^^xsd:string) SubClassOf( ) # Class: (angular cheilitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Angular_cheilitis"^^xsd:string) "A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C112198"^^xsd:string) AnnotationAssertion( "angular cheilosis"^^xsd:string) AnnotationAssertion( "angular stomatitis"^^xsd:string) AnnotationAssertion( "cheilosis"^^xsd:string) AnnotationAssertion( "commissural cheilitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060312"^^xsd:string) AnnotationAssertion(rdfs:label "angular cheilitis"^^xsd:string) SubClassOf( ) # Class: (tracheomalacia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tracheomalacia"^^xsd:string) "A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q32.0"^^xsd:string) AnnotationAssertion( "MESH:C557675"^^xsd:string) AnnotationAssertion( "MESH:D055090"^^xsd:string) AnnotationAssertion( "ORDO:95430"^^xsd:string) AnnotationAssertion( "Chondromalacia of Trachea"^^xsd:string) AnnotationAssertion( "Congenital Tracheomalacia"^^xsd:string) AnnotationAssertion( "Trachea Chondromalacia"^^xsd:string) AnnotationAssertion( "Trachea Chondromalacias"^^xsd:string) AnnotationAssertion( "Tracheomalacias"^^xsd:string) AnnotationAssertion( "Type 1 tracheomalacia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060313"^^xsd:string) AnnotationAssertion(rdfs:label "tracheomalacia"^^xsd:string) SubClassOf( ) # Class: (persistent generalized lymphadenopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy"^^xsd:string) "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003464"^^xsd:string) AnnotationAssertion( "PGL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060314"^^xsd:string) AnnotationAssertion(rdfs:label "persistent generalized lymphadenopathy"^^xsd:string) SubClassOf( ) # Class: (oral hairy leukoplakia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hairy_leukoplakia"^^xsd:string) "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001360"^^xsd:string) AnnotationAssertion( "ICD10CM:K13.3"^^xsd:string) AnnotationAssertion( "MESH:D017733"^^xsd:string) AnnotationAssertion( "NCI:C3722"^^xsd:string) AnnotationAssertion( "hairy leukoplakia"^^xsd:string) AnnotationAssertion( "hairy leukoplakias"^^xsd:string) AnnotationAssertion( "oral hairy leukoplakias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060315"^^xsd:string) AnnotationAssertion(rdfs:label "oral hairy leukoplakia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance"^^xsd:string) "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537134"^^xsd:string) AnnotationAssertion( "MIM:311200"^^xsd:string) AnnotationAssertion( "MONDO:0010702"^^xsd:string) AnnotationAssertion( "NCI:C75481"^^xsd:string) AnnotationAssertion( "ORDO:2750"^^xsd:string) AnnotationAssertion( "OFD1"^^xsd:string) AnnotationAssertion( "OFDS I"^^xsd:string) AnnotationAssertion( "Papillon-Leage and Psaume syndrome"^^xsd:string) AnnotationAssertion( "Papillon-Leage-Psaume syndrome"^^xsd:string) AnnotationAssertion( "Papillon-League-Psaume syndrome"^^xsd:string) AnnotationAssertion( "oral facial digital syndrome, type I"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type 1"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 1"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome type I"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome type1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060316"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung abscess) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lung_abscess"^^xsd:string) "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001362"^^xsd:string) AnnotationAssertion( "ICD10CM:J85.2"^^xsd:string) AnnotationAssertion( "ICD9CM:513.0"^^xsd:string) AnnotationAssertion( "MESH:D008169"^^xsd:string) AnnotationAssertion( "NCI:C99090"^^xsd:string) AnnotationAssertion( "Pulmonary Abscess"^^xsd:string) AnnotationAssertion( "lung abscesses"^^xsd:string) AnnotationAssertion( "pulmonary abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060317"^^xsd:string) AnnotationAssertion(rdfs:label "lung abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute promyelocytic leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia"^^xsd:string) "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612376"^^xsd:string) AnnotationAssertion( "EFO:0000224"^^xsd:string) AnnotationAssertion( "GARD:538"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.4"^^xsd:string) AnnotationAssertion( "MESH:D015473"^^xsd:string) AnnotationAssertion( "NCI:C3182"^^xsd:string) AnnotationAssertion( "ORDO:520"^^xsd:string) AnnotationAssertion( "AML M3"^^xsd:string) AnnotationAssertion( "APL"^^xsd:string) AnnotationAssertion( "M3 ANLL"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukaemia type 3"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukemia type 3"^^xsd:string) AnnotationAssertion( "acute myeloid leukaemia M3"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M3"^^xsd:string) AnnotationAssertion( "acute promyelocytic leukaemia"^^xsd:string) AnnotationAssertion( "acute promyelocytic leukemias"^^xsd:string) AnnotationAssertion( "progranulocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE"^^xsd:string) AnnotationAssertion( "DOID:0060318"^^xsd:string) AnnotationAssertion(rdfs:label "acute promyelocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (cardiac arrest) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiac_arrest"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/cardiacarrest.html"^^xsd:string) "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009492"^^xsd:string) AnnotationAssertion( "ICD10CM:I46"^^xsd:string) AnnotationAssertion( "ICD9CM:427.5"^^xsd:string) AnnotationAssertion( "MESH:D006323"^^xsd:string) AnnotationAssertion( "NCI:C50479"^^xsd:string) AnnotationAssertion( "NCI:C50483"^^xsd:string) AnnotationAssertion( "Asystole"^^xsd:string) AnnotationAssertion( "Cardiopulmonary Arrest"^^xsd:string) AnnotationAssertion( "asystoles"^^xsd:string) AnnotationAssertion( "circulatory arrest"^^xsd:string) AnnotationAssertion( "heart arrest"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060319"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac arrest"^^xsd:string) SubClassOf( ) # Class: (inguinal hernia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inguinal_hernia"^^xsd:string) "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K40"^^xsd:string) AnnotationAssertion( "ICD10CM:K40.90"^^xsd:string) AnnotationAssertion( "ICD9CM:550"^^xsd:string) AnnotationAssertion( "MESH:D006552"^^xsd:string) AnnotationAssertion( "NCI:C34690"^^xsd:string) AnnotationAssertion( "NCI:C34691"^^xsd:string) AnnotationAssertion( "NCI:C34692"^^xsd:string) AnnotationAssertion( "Direct Inguinal Hernia"^^xsd:string) AnnotationAssertion( "Direct Inguinal Hernias"^^xsd:string) AnnotationAssertion( "Indirect Inguinal Hernia"^^xsd:string) AnnotationAssertion( "Indirect Inguinal Hernias"^^xsd:string) AnnotationAssertion( "Inguinal Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060320"^^xsd:string) AnnotationAssertion(rdfs:label "inguinal hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (umbilical hernia) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Umbilical_hernia"^^xsd:string) "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.2"^^xsd:string) AnnotationAssertion( "ICD9CM:756.72"^^xsd:string) AnnotationAssertion( "MESH:D006554"^^xsd:string) AnnotationAssertion( "Umbilical Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060321"^^xsd:string) AnnotationAssertion(rdfs:label "umbilical hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mastoiditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mastoiditis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm"^^xsd:string) "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H70.9"^^xsd:string) AnnotationAssertion( "ICD9CM:383.9"^^xsd:string) AnnotationAssertion( "MESH:D008417"^^xsd:string) AnnotationAssertion( "NCI:C128368"^^xsd:string) AnnotationAssertion( "mastoiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060322"^^xsd:string) AnnotationAssertion(rdfs:label "mastoiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast abscess) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mastitis#Breast_abscess"^^xsd:string) "A breast disease characterized by a collection of pus in the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060323"^^xsd:string) AnnotationAssertion(rdfs:label "breast abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental abscess) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dental_abscess"^^xsd:string) "A tooth disease characterized by a localized collection of pus associated with a tooth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K04.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060324"^^xsd:string) AnnotationAssertion(rdfs:label "dental abscess"^^xsd:string) SubClassOf( ) # Class: (cervical polyp) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cervical_polyp"^^xsd:string) "A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009475"^^xsd:string) AnnotationAssertion( "ICD10CM:D26.9"^^xsd:string) AnnotationAssertion( "ICD9CM:219"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060325"^^xsd:string) AnnotationAssertion(rdfs:label "cervical polyp"^^xsd:string) SubClassOf( ) # Class: (myelomeningocele) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm"^^xsd:string) "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001369"^^xsd:string) AnnotationAssertion( "ICD10CM:Q05"^^xsd:string) AnnotationAssertion( "MESH:D008591"^^xsd:string) AnnotationAssertion( "NCI:C101201"^^xsd:string) AnnotationAssertion( "NCI:C98874"^^xsd:string) AnnotationAssertion( "Acquired Myelomeningocele"^^xsd:string) AnnotationAssertion( "Meningomyeloceles"^^xsd:string) AnnotationAssertion( "acquired meningomyelocele"^^xsd:string) AnnotationAssertion( "acquired meningomyeloceles"^^xsd:string) AnnotationAssertion( "acquired myelomeningoceles"^^xsd:string) AnnotationAssertion( "meningomyelocele"^^xsd:string) AnnotationAssertion( "myelocele"^^xsd:string) AnnotationAssertion( "myeloceles"^^xsd:string) AnnotationAssertion( "myelomeningoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060326"^^xsd:string) AnnotationAssertion(rdfs:label "myelomeningocele"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (omphalocele) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Omphalocele"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm"^^xsd:string) "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.2"^^xsd:string) AnnotationAssertion( "ICD9CM:756.72"^^xsd:string) AnnotationAssertion( "MIM:164750"^^xsd:string) AnnotationAssertion( "MIM:310980"^^xsd:string) AnnotationAssertion( "MONDO:0019015"^^xsd:string) AnnotationAssertion( "NCI:C98997"^^xsd:string) AnnotationAssertion( "ORDO:660"^^xsd:string) AnnotationAssertion( "exomphalos"^^xsd:string) AnnotationAssertion( "omphalocoele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060327"^^xsd:string) AnnotationAssertion(rdfs:label "omphalocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal fistula) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anal_fistula"^^xsd:string) "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K60.3"^^xsd:string) AnnotationAssertion( "MESH:D012003"^^xsd:string) AnnotationAssertion( "MONDO:0000754"^^xsd:string) AnnotationAssertion( "rectal fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060328"^^xsd:string) AnnotationAssertion(rdfs:label "anal fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectopic pregnancy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ectopic_pregnancy"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm"^^xsd:string) "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6318"^^xsd:string) AnnotationAssertion( "ICD10CM:O00"^^xsd:string) AnnotationAssertion( "ICD9CM:633"^^xsd:string) AnnotationAssertion( "MESH:D011271"^^xsd:string) AnnotationAssertion( "NCI:C34945"^^xsd:string) AnnotationAssertion( "eccyesis"^^xsd:string) AnnotationAssertion( "ectopic pregnancies"^^xsd:string) AnnotationAssertion( "extrauterine pregnancies"^^xsd:string) AnnotationAssertion( "extrauterine pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060329"^^xsd:string) AnnotationAssertion(rdfs:label "ectopic pregnancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rapp-Hodgkin syndrome) AnnotationAssertion(Annotation( "PMID:28584763"^^xsd:string) "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5690"^^xsd:string) AnnotationAssertion( "MESH:C535289"^^xsd:string) AnnotationAssertion( "MIM:129400"^^xsd:string) AnnotationAssertion( "MONDO:0007508"^^xsd:string) AnnotationAssertion( "ORDO:3022"^^xsd:string) AnnotationAssertion( "RHS"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia with cleft lip/palate"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia syndrome, Rapp-Hodgkin type"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia, Rapp-Hodgkin type"^^xsd:string) AnnotationAssertion( "OFC8"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate, 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060330"^^xsd:string) AnnotationAssertion(rdfs:label "Rapp-Hodgkin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 2) AnnotationAssertion(Annotation( "MIM:614052"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614052"^^xsd:string) AnnotationAssertion( "GARD:12965"^^xsd:string) AnnotationAssertion( "MESH:C567528"^^xsd:string) AnnotationAssertion( "ORDO:1194"^^xsd:string) AnnotationAssertion( "MC5DN2"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, TMEM70 type"^^xsd:string) AnnotationAssertion( "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"^^xsd:string) AnnotationAssertion( "nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060331"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 3) AnnotationAssertion(Annotation( "PMID:20566710"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614053"^^xsd:string) AnnotationAssertion( "ATP5F1E-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ATP6V0A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX"^^xsd:string) AnnotationAssertion( "MC5DN3"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, ATP5E type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060332"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 3"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 4) AnnotationAssertion(Annotation( "PMID:23599390"^^xsd:string) Annotation( "PMID:34954817"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO)"^^xsd:string) AnnotationAssertion( "ATP5F1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MC5DN4"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, ATP5A1 type"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, encephalopathic, ATP5A1 type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060333"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 4"^^xsd:string) SubClassOf( ) # Class: (transient neonatal diabetes mellitus) AnnotationAssertion(Annotation( "PMID:17349054"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus"^^xsd:string) "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0020032"^^xsd:string) AnnotationAssertion( "EFO:0020040"^^xsd:string) AnnotationAssertion( "GARD:1839"^^xsd:string) AnnotationAssertion( "MONDO:0020525"^^xsd:string) AnnotationAssertion( "ORDO:99886"^^xsd:string) AnnotationAssertion( "DMTN"^^xsd:string) AnnotationAssertion( "TNDM"^^xsd:string) AnnotationAssertion( "autosomal recessive transient neonatal diabetes mellitus"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes, dominant"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes, dominant/recessive"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060334"^^xsd:string) AnnotationAssertion(rdfs:label "transient neonatal diabetes mellitus"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant sideroblastic anemia 4) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sideroblastic_anemia"^^xsd:string) "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182170"^^xsd:string) AnnotationAssertion( "HSPA9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567160"^^xsd:string) AnnotationAssertion( "SIDBA4"^^xsd:string) AnnotationAssertion( "sideroblastic anemia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060335"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant sideroblastic anemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria"^^xsd:string) "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.111"^^xsd:string) AnnotationAssertion( "MESH:C579867"^^xsd:string) AnnotationAssertion( "MIM:PS250950"^^xsd:string) AnnotationAssertion( "MONDO:0017359"^^xsd:string) AnnotationAssertion( "ORDO:289902"^^xsd:string) AnnotationAssertion( "3mga (3-Methylglutaconic Aciduria)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060336"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria"^^xsd:string) SubClassOf( ) # Class: (CEDNIK syndrome) AnnotationAssertion(Annotation( "PMID:21073448"^^xsd:string) "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609528"^^xsd:string) AnnotationAssertion( "MESH:C537943"^^xsd:string) AnnotationAssertion( "ORDO:66631"^^xsd:string) AnnotationAssertion( "SNAP29-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"^^xsd:string) AnnotationAssertion( "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060337"^^xsd:string) AnnotationAssertion(rdfs:label "CEDNIK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (parameningeal embryonal rhabdomyosarcoma) AnnotationAssertion(Annotation( "PMID:10717216"^^xsd:string) Annotation( "PMID:23021437"^^xsd:string) "An embryonal rhabdomyosarcoma located in the parameningeal region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060338"^^xsd:string) AnnotationAssertion(rdfs:label "parameningeal embryonal rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (chronic atrial and intestinal dysrhythmia) AnnotationAssertion(Annotation( "PMID:25282101"^^xsd:string) "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000750"^^xsd:string) AnnotationAssertion( "MIM:616201"^^xsd:string) AnnotationAssertion( "CAID"^^xsd:string) AnnotationAssertion( "CAID syndrome"^^xsd:string) AnnotationAssertion( "SGO1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060339"^^xsd:string) AnnotationAssertion(rdfs:label "chronic atrial and intestinal dysrhythmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ciliopathy) AnnotationAssertion(Annotation( "PMID:18178628"^^xsd:string) Annotation( "PMID:21210154"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Ciliopathy"^^xsd:string) "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003900"^^xsd:string) AnnotationAssertion( "MESH:D000072661"^^xsd:string) AnnotationAssertion( "ciliopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060340"^^xsd:string) AnnotationAssertion(rdfs:label "ciliopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (agnathia-otocephaly complex) AnnotationAssertion(Annotation( "PMID:17438667"^^xsd:string) "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202650"^^xsd:string) AnnotationAssertion( "ICD10CM:Q18.2"^^xsd:string) AnnotationAssertion( "MESH:C537996"^^xsd:string) AnnotationAssertion( "MESH:C562503"^^xsd:string) AnnotationAssertion( "ORDO:990"^^xsd:string) AnnotationAssertion( "AGOTC"^^xsd:string) AnnotationAssertion( "PRRX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "agnathia-holoprosencephaly"^^xsd:string) AnnotationAssertion( "agnathia-holoprosencephaly-situs inversus syndrome"^^xsd:string) AnnotationAssertion( "dysgnathia complex"^^xsd:string) AnnotationAssertion( "dysgnathia complex, agnathia-holoprosencephaly"^^xsd:string) AnnotationAssertion( "otocephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060341"^^xsd:string) AnnotationAssertion(rdfs:label "agnathia-otocephaly complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acromelic frontonasal dysostosis) AnnotationAssertion(Annotation( "PMID:15264282"^^xsd:string) "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603671"^^xsd:string) AnnotationAssertion( "ZSWIM6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:5539"^^xsd:string) AnnotationAssertion( "MESH:C566345"^^xsd:string) AnnotationAssertion( "ORDO:1827"^^xsd:string) AnnotationAssertion( "AFND"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060342"^^xsd:string) AnnotationAssertion(rdfs:label "acromelic frontonasal dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glucocorticoid-induced osteoporosis) AnnotationAssertion(Annotation( "PMID:17566815"^^xsd:string) Annotation( "PMID:22870429"^^xsd:string) "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002014"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "steroid-induced osteoporosis"^^xsd:string) AnnotationAssertion( "DOID:0060343"^^xsd:string) AnnotationAssertion(rdfs:label "glucocorticoid-induced osteoporosis"^^xsd:string) SubClassOf( ) # Class: (acrodermatitis chronica atrophicans) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans"^^xsd:string) Annotation( "http://www.dermis.net/dermisroot/en/35111/diagnose.htm"^^xsd:string) "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000665"^^xsd:string) AnnotationAssertion( "ICD9CM:701.8"^^xsd:string) AnnotationAssertion( "Herxheimer disease"^^xsd:string) AnnotationAssertion( "primary diffuse atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060344"^^xsd:string) AnnotationAssertion(rdfs:label "acrodermatitis chronica atrophicans"^^xsd:string) SubClassOf( ) # Class: (bacillary angiomatosis) AnnotationAssertion(Annotation( "PMID:9407154"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Bacillary_angiomatosis"^^xsd:string) "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016917"^^xsd:string) AnnotationAssertion( "NCI:C3477"^^xsd:string) AnnotationAssertion( "Bacillary Epithelioid Angiomatoses"^^xsd:string) AnnotationAssertion( "Bacillary Epithelioid Angiomatosis"^^xsd:string) AnnotationAssertion( "Epithelioid Angiomatoses"^^xsd:string) AnnotationAssertion( "bacillary angiomatoses"^^xsd:string) AnnotationAssertion( "epithelioid angiomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060345"^^xsd:string) AnnotationAssertion(rdfs:label "bacillary angiomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Native American myopathy) AnnotationAssertion(Annotation( "PMID:18553514"^^xsd:string) "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8432"^^xsd:string) AnnotationAssertion( "MESH:C538343"^^xsd:string) AnnotationAssertion( "MIM:255995"^^xsd:string) AnnotationAssertion( "MONDO:0009722"^^xsd:string) AnnotationAssertion( "ORDO:168572"^^xsd:string) AnnotationAssertion( "Bailey-Bloch congenital myopathy"^^xsd:string) AnnotationAssertion( "Baily-Bloch congenital myopathy"^^xsd:string) AnnotationAssertion( "CMYO13"^^xsd:string) AnnotationAssertion( "CMYP13"^^xsd:string) AnnotationAssertion( "MYPBB"^^xsd:string) AnnotationAssertion( "NAM"^^xsd:string) AnnotationAssertion( "congenital myopathy 13"^^xsd:string) AnnotationAssertion( "congenital myopathy cleft palate and malignant hyperthermia"^^xsd:string) AnnotationAssertion( "congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia"^^xsd:string) AnnotationAssertion( "congenital myopathy, with cleft palate and malignant hyperthermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060346"^^xsd:string) AnnotationAssertion(rdfs:label "Native American myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrorenal syndrome) AnnotationAssertion(Annotation( "PMID:26019842"^^xsd:string) "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:102520"^^xsd:string) AnnotationAssertion( "MESH:C563159"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060347"^^xsd:string) AnnotationAssertion(rdfs:label "acrorenal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypoparathyroidism-retardation-dysmorphism syndrome) AnnotationAssertion(Annotation( "PMID:15645691"^^xsd:string) Annotation( "PMID:24339556"^^xsd:string) "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241410"^^xsd:string) AnnotationAssertion( "GARD:411"^^xsd:string) AnnotationAssertion( "MESH:C537157"^^xsd:string) AnnotationAssertion( "NCI:C133727"^^xsd:string) AnnotationAssertion( "ORDO:2323"^^xsd:string) AnnotationAssertion( "HRD syndrome"^^xsd:string) AnnotationAssertion( "HRDS"^^xsd:string) AnnotationAssertion( "Hypoparathyroidism with short stature, mental retardation, and seizures"^^xsd:string) AnnotationAssertion( "Sanjad-Sakati syndrome"^^xsd:string) AnnotationAssertion( "congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060348"^^xsd:string) AnnotationAssertion(rdfs:label "hypoparathyroidism-retardation-dysmorphism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcephaly with or without chorioretinopathy, lymphedema, or mental retardation) AnnotationAssertion(Annotation( "PMID:10482868"^^xsd:string) Annotation( "PMID:11302131"^^xsd:string) Annotation( "PMID:25124931"^^xsd:string) Annotation( "PMID:5936364"^^xsd:string) "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537711"^^xsd:string) AnnotationAssertion( "MIM:152950"^^xsd:string) AnnotationAssertion( "MONDO:0007918"^^xsd:string) AnnotationAssertion( "ORDO:2526"^^xsd:string) AnnotationAssertion( "CDMMR syndrome"^^xsd:string) AnnotationAssertion( "KIF11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCLMR"^^xsd:string) AnnotationAssertion( "MLCRD syndrome"^^xsd:string) AnnotationAssertion( "chorioretinal dysplasia-microcephaly-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "lymphedema and retinal folds with ficrocephaly and microphthalmos"^^xsd:string) AnnotationAssertion( "lymphedema and retinal folds with microcephaly and microphthalmos"^^xsd:string) AnnotationAssertion( "lymphedema, microcephaly and chorioretinopathy syndrome"^^xsd:string) AnnotationAssertion( "lymphedema, microcephaly, chorioretinopathy syndrome"^^xsd:string) AnnotationAssertion( "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant"^^xsd:string) AnnotationAssertion( "microcephaly lymphedema chorioretinal dysplasia"^^xsd:string) AnnotationAssertion( "microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"^^xsd:string) AnnotationAssertion( "microcephaly, lymphedema, chorioretinal dysplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060349"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adenine phosphoribosyltransferase deficiency) AnnotationAssertion(Annotation( "PMID:20150536"^^xsd:string) Annotation( "PMID:22700886"^^xsd:string) Annotation( "PMID:8864750"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency"^^xsd:string) "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614723"^^xsd:string) AnnotationAssertion( "GARD:10666"^^xsd:string) AnnotationAssertion( "GARD:546"^^xsd:string) AnnotationAssertion( "MESH:C538228"^^xsd:string) AnnotationAssertion( "NCI:C121564"^^xsd:string) AnnotationAssertion( "2,8-Dihydroxyadenine Urolithiasis"^^xsd:string) AnnotationAssertion( "2,8-Dihydroxyadeninuria"^^xsd:string) AnnotationAssertion( "APRT Deficiency"^^xsd:string) AnnotationAssertion( "APRT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "APRTD"^^xsd:string) AnnotationAssertion( "DHA Crystalline Nephropathy"^^xsd:string) AnnotationAssertion( "Nephrolithiasis, DHA"^^xsd:string) AnnotationAssertion( "Urolithiasis, DHA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060350"^^xsd:string) AnnotationAssertion(rdfs:label "adenine phosphoribosyltransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 2) AnnotationAssertion(Annotation( "PMID:21278747"^^xsd:string) Annotation( "http://www.omim.org/entry/615157"^^xsd:string) "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "TTC19-related condition"^^xsd:string) AnnotationAssertion( "MIM:615157"^^xsd:string) AnnotationAssertion( "MONDO:0014063"^^xsd:string) AnnotationAssertion( "MC3DN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060351"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 2"^^xsd:string) SubClassOf( ) # Class: (Kleefstra syndrome 1) AnnotationAssertion(Annotation( "PMID:15264279"^^xsd:string) Annotation( "PMID:16826528"^^xsd:string) Annotation( "PMID:21245904"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/9q34_deletion_syndrome"^^xsd:string) "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070075"^^xsd:string) AnnotationAssertion( "EHMT1-related condition"^^xsd:string) AnnotationAssertion( "GARD:8672"^^xsd:string) AnnotationAssertion( "MESH:C563043"^^xsd:string) AnnotationAssertion( "MIM:610253"^^xsd:string) AnnotationAssertion( "MONDO:0027407"^^xsd:string) AnnotationAssertion( "ORDO:261494"^^xsd:string) AnnotationAssertion( "9q subtelomeric deletion syndrome"^^xsd:string) AnnotationAssertion( "9q- syndrome"^^xsd:string) AnnotationAssertion( "9q34 deletion syndrome"^^xsd:string) AnnotationAssertion( "9q34.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "9q34.3 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "KLEFS1"^^xsd:string) AnnotationAssertion( "chromosome 9Q deletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 9q34.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060352"^^xsd:string) AnnotationAssertion(rdfs:label "Kleefstra syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis Cincinnati type) AnnotationAssertion(Annotation( "PMID:25913037"^^xsd:string) "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO)"^^xsd:string) AnnotationAssertion( "POLR1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616462"^^xsd:string) AnnotationAssertion( "AFDCIN"^^xsd:string) AnnotationAssertion( "Cincinnati type of acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060353"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis Cincinnati type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stormorken syndrome) AnnotationAssertion(Annotation( "PMID:24619930"^^xsd:string) Annotation( "PMID:25577287"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/stormorken-syndrome"^^xsd:string) "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:185070"^^xsd:string) AnnotationAssertion( "MESH:C566108"^^xsd:string) AnnotationAssertion( "ORDO:3204"^^xsd:string) AnnotationAssertion( "thrombocytopathy, asplenia, and miosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060354"^^xsd:string) AnnotationAssertion(rdfs:label "Stormorken syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 22) AnnotationAssertion(Annotation( "MIM:616208"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616208"^^xsd:string) AnnotationAssertion( "MONDO:0014531"^^xsd:string) AnnotationAssertion( "ALS 22"^^xsd:string) AnnotationAssertion( "ALS22"^^xsd:string) AnnotationAssertion( "TUBA4A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 22"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 22 with frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060355"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vici syndrome) AnnotationAssertion(Annotation( "PMID:21965116"^^xsd:string) Annotation( "PMID:23222957"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Vici_syndrome"^^xsd:string) "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:448"^^xsd:string) AnnotationAssertion( "MESH:C535566"^^xsd:string) AnnotationAssertion( "MIM:242840"^^xsd:string) AnnotationAssertion( "MONDO:0009452"^^xsd:string) AnnotationAssertion( "NCI:C138174"^^xsd:string) AnnotationAssertion( "ORDO:1493"^^xsd:string) AnnotationAssertion( "EPG5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VICIS"^^xsd:string) AnnotationAssertion( "absent corpus callosum, cataract immunodeficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060356"^^xsd:string) AnnotationAssertion(rdfs:label "Vici syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chylomicron retention disease) AnnotationAssertion(Annotation( "PMID:10521380"^^xsd:string) Annotation( "PMID:20920215"^^xsd:string) Annotation( "PMID:3430059"^^xsd:string) Annotation( "PMID:3792776"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Chylomicron_retention_disease"^^xsd:string) "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)"^^xsd:string) AnnotationAssertion( "SAR1B-related condition"^^xsd:string) AnnotationAssertion( "GARD:9683"^^xsd:string) AnnotationAssertion( "MESH:C535460"^^xsd:string) AnnotationAssertion( "MIM:246700"^^xsd:string) AnnotationAssertion( "MONDO:0009528"^^xsd:string) AnnotationAssertion( "ORDO:71"^^xsd:string) AnnotationAssertion( "ANDD"^^xsd:string) AnnotationAssertion( "Anderson Syndrome"^^xsd:string) AnnotationAssertion( "Anderson disease"^^xsd:string) AnnotationAssertion( "CMRD"^^xsd:string) AnnotationAssertion( "Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells"^^xsd:string) AnnotationAssertion( "lipid transport defect of intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060357"^^xsd:string) AnnotationAssertion(rdfs:label "chylomicron retention disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple acyl-CoA dehydrogenase deficiency) AnnotationAssertion(Annotation( "PMID:12815589"^^xsd:string) Annotation( "PMID:22580358"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2"^^xsd:string) "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231680"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.313"^^xsd:string) AnnotationAssertion( "MESH:D054069"^^xsd:string) AnnotationAssertion( "NCI:C84907"^^xsd:string) AnnotationAssertion( "ORDO:26791"^^xsd:string) AnnotationAssertion( "ETHYLMALONIC-ADIPICACIDURIA"^^xsd:string) AnnotationAssertion( "Electron Transfer Flavoprotein Deficiency"^^xsd:string) AnnotationAssertion( "Ethylmalonic Adipic Aciduria"^^xsd:string) AnnotationAssertion( "Ethylmalonic-Adipic Acidurias"^^xsd:string) AnnotationAssertion( "MAD deficiency"^^xsd:string) AnnotationAssertion( "MADD"^^xsd:string) AnnotationAssertion( "MADD (multiple acyl-CoA dehydrogenase deficiency)"^^xsd:string) AnnotationAssertion( "electron transfer flavoprotein ubiquinone oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "multiple FAD dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "EMA GLUTARIC ACIDEMIA IIA"^^xsd:string) AnnotationAssertion( "ETFA DEFICIENCY"^^xsd:string) AnnotationAssertion( "ETFA deficiencies"^^xsd:string) AnnotationAssertion( "ETFB DEFICIENCY"^^xsd:string) AnnotationAssertion( "ETFB Deficiencies"^^xsd:string) AnnotationAssertion( "ETFDH DEFICIENCY"^^xsd:string) AnnotationAssertion( "ETFDH Deficiencies"^^xsd:string) AnnotationAssertion( "Electron Transfer Flavoprotein Beta Subunit Deficiency"^^xsd:string) AnnotationAssertion( "Electron Transfer Flavoprotein Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "GA II"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA II"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA IIB"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA IIC"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA IIC, LATE-ONSET"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA TYPE 2C"^^xsd:string) AnnotationAssertion( "Glutaric Acidemia Type II"^^xsd:string) AnnotationAssertion( "Glutaric Acidemia, Type 2"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria II"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria IIA"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria IIB"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria IIC"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria Type 2"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria Type II"^^xsd:string) AnnotationAssertion( "MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE"^^xsd:string) AnnotationAssertion( "electron transfer flavoprotein alpha subunit deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060358"^^xsd:string) AnnotationAssertion(rdfs:label "multiple acyl-CoA dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sakati-Nyhan syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome"^^xsd:string) "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101120"^^xsd:string) AnnotationAssertion( "GARD:115"^^xsd:string) AnnotationAssertion( "MESH:C537227"^^xsd:string) AnnotationAssertion( "ORDO:3128"^^xsd:string) AnnotationAssertion( "ACPS III"^^xsd:string) AnnotationAssertion( "ACPS with leg hypoplasia"^^xsd:string) AnnotationAssertion( "Sakati syndrome"^^xsd:string) AnnotationAssertion( "Sakati-Nyhan-Tisdale syndrome"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type 3"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060359"^^xsd:string) AnnotationAssertion(rdfs:label "Sakati-Nyhan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary papulotranslucent acrokeratoderma) AnnotationAssertion(Annotation( "PMID:16409913"^^xsd:string) "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101840"^^xsd:string) AnnotationAssertion( "RDO:0014709"^^xsd:string) AnnotationAssertion( "EFO:1000708"^^xsd:string) AnnotationAssertion( "MESH:C566323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060360"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary papulotranslucent acrokeratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (punctate palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate"^^xsd:string) "A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:307967"^^xsd:string) AnnotationAssertion( "punctate palmoplantar hyperkeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "punctate keratosis palmoplantaris"^^xsd:string) AnnotationAssertion( "DOID:0060361"^^xsd:string) AnnotationAssertion(rdfs:label "punctate palmoplantar keratoderma"^^xsd:string) SubClassOf( ) # Class: (punctate palmoplantar keratoderma type III) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i"^^xsd:string) "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000758"^^xsd:string) AnnotationAssertion( "MESH:C535653"^^xsd:string) AnnotationAssertion( "MIM:101850"^^xsd:string) AnnotationAssertion( "MONDO:0007047"^^xsd:string) AnnotationAssertion( "ORDO:38"^^xsd:string) AnnotationAssertion( "PPKP3"^^xsd:string) AnnotationAssertion( "acrokeratoelastoidosis of Costa"^^xsd:string) AnnotationAssertion( "collagenous plaques of hand and feet"^^xsd:string) AnnotationAssertion( "collagenous plaques of hands and feet"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma, punctate type 3"^^xsd:string) AnnotationAssertion( "punctate palmoplantar hyperkeratosis type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060362"^^xsd:string) AnnotationAssertion(rdfs:label "punctate palmoplantar keratoderma type III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycerol kinase deficiency) AnnotationAssertion(Annotation( "PMID:22427807"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency"^^xsd:string) "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:307030"^^xsd:string) AnnotationAssertion( "NCI:C124845"^^xsd:string) AnnotationAssertion( "ORDO:408"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF GLYCEROL KINASE"^^xsd:string) AnnotationAssertion( "GK deficiency"^^xsd:string) AnnotationAssertion( "GK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GK1 deficiency"^^xsd:string) AnnotationAssertion( "GKD"^^xsd:string) AnnotationAssertion( "hyperglycerolemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060363"^^xsd:string) AnnotationAssertion(rdfs:label "glycerol kinase deficiency"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat syndrome 1) AnnotationAssertion(Annotation( "PMID:26123727"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome"^^xsd:string) "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:251300"^^xsd:string) AnnotationAssertion( "MONDO:0033005"^^xsd:string) AnnotationAssertion( "GAMOS1"^^xsd:string) AnnotationAssertion( "Galloway syndrome"^^xsd:string) AnnotationAssertion( "SCAR5"^^xsd:string) AnnotationAssertion( "WDR73-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia 5"^^xsd:string) AnnotationAssertion( "microcephaly, hiatal hernia and nephrotic syndrome"^^xsd:string) AnnotationAssertion( "nephrosis-microcephaly syndrome"^^xsd:string) AnnotationAssertion( "nephrosis-neuronal dysmigration syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060364"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome 1"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (mandibulofacial dysostosis with alopecia) AnnotationAssertion(Annotation( "PMID:25772936"^^xsd:string) "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EDNRA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616367"^^xsd:string) AnnotationAssertion( "MFDA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060365"^^xsd:string) AnnotationAssertion(rdfs:label "mandibulofacial dysostosis with alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hennekam syndrome) AnnotationAssertion(Annotation( "PMID:14564208"^^xsd:string) Annotation( "PMID:24870712"^^xsd:string) Annotation( "PMID:2624276"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hennekam-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hennekam_syndrome"^^xsd:string) "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3318"^^xsd:string) AnnotationAssertion( "MESH:C537255"^^xsd:string) AnnotationAssertion( "MIM:PS235510"^^xsd:string) AnnotationAssertion( "ORDO:2136"^^xsd:string) AnnotationAssertion( "Hennekam Lymphangiectasia Lymphedema Syndrome"^^xsd:string) AnnotationAssertion( "Lymphangiectasies and lymphedema Hennekam type"^^xsd:string) AnnotationAssertion( "generalized lymphatic dysplasia"^^xsd:string) AnnotationAssertion( "lymphedem-lymphangiectasia-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "lymphedema-lymphangiectasia-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060366"^^xsd:string) AnnotationAssertion(rdfs:label "Hennekam syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 1) AnnotationAssertion(Annotation( "PMID:22315721"^^xsd:string) Annotation( "http://www.omim.org/entry/168601"^^xsd:string) "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:168601"^^xsd:string) AnnotationAssertion( "MESH:C566823"^^xsd:string) AnnotationAssertion( "NCI:C198602"^^xsd:string) AnnotationAssertion( "Lewy Body Parkinsonism"^^xsd:string) AnnotationAssertion( "PARK1"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY"^^xsd:string) AnnotationAssertion( "Parkinson Disease, Familial, Type 1"^^xsd:string) AnnotationAssertion( "atypical Parkinson disease"^^xsd:string) AnnotationAssertion( "atypical Parkinson's disease"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease 1"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 1"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 1, Lewy body"^^xsd:string) AnnotationAssertion( "familial Parkinson's disease, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060367"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 2) AnnotationAssertion(Annotation( "PMID:22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600116"^^xsd:string) AnnotationAssertion( "NCI:C198603"^^xsd:string) AnnotationAssertion( "PARK2"^^xsd:string) AnnotationAssertion( "Parkinson disease 2"^^xsd:string) AnnotationAssertion( "Parkinson disease juvenile type 2"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease, early onset"^^xsd:string) AnnotationAssertion( "autosomal recessive juvenile Parkinson disease 2"^^xsd:string) AnnotationAssertion( "autosomal recessive juvenile Parkinson's disease 2"^^xsd:string) AnnotationAssertion( "early onset Parkinsonism with diurnal fluctuation"^^xsd:string) AnnotationAssertion( "young-onset Parkinson disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060368"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 6) AnnotationAssertion(Annotation( "PMID:22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605909"^^xsd:string) AnnotationAssertion( "MESH:C565276"^^xsd:string) AnnotationAssertion( "NCI:C184990"^^xsd:string) AnnotationAssertion( "PARK6"^^xsd:string) AnnotationAssertion( "PINK1-related parkinsonism"^^xsd:string) AnnotationAssertion( "Parkinson disease 6"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 6"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 6"^^xsd:string) AnnotationAssertion( "early-onset Parkinson disease 6"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE 6, EARLY-ONSET"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060369"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 7) AnnotationAssertion(Annotation( "PMID:22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565238"^^xsd:string) AnnotationAssertion( "MIM:606324"^^xsd:string) AnnotationAssertion( "MONDO:0011658"^^xsd:string) AnnotationAssertion( "NCI:C198606"^^xsd:string) AnnotationAssertion( "PARK7"^^xsd:string) AnnotationAssertion( "Parkinson disease 7"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 7"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060370"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 8) AnnotationAssertion(Annotation( "PMID:22315721"^^xsd:string) "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607060"^^xsd:string) AnnotationAssertion( "MESH:C564631"^^xsd:string) AnnotationAssertion( "NCI:C198605"^^xsd:string) AnnotationAssertion( "LRRK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PARK8"^^xsd:string) AnnotationAssertion( "Parkinson disease 8"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease 8"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060371"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 15) AnnotationAssertion(Annotation( "PMID:22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538104"^^xsd:string) AnnotationAssertion( "MIM:260300"^^xsd:string) AnnotationAssertion( "MONDO:009830"^^xsd:string) AnnotationAssertion( "NCI:C198607"^^xsd:string) AnnotationAssertion( "PARK15"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 15"^^xsd:string) AnnotationAssertion( "PKPS"^^xsd:string) AnnotationAssertion( "Parkinson disease 15, autosomal recessive"^^xsd:string) AnnotationAssertion( "Parkinson's disease 15, autosomal recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 15"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 15"^^xsd:string) AnnotationAssertion( "pallido-pyramidal disease"^^xsd:string) AnnotationAssertion( "pallido-pyramidal syndrome"^^xsd:string) AnnotationAssertion( "pallidopyramidal syndrome"^^xsd:string) AnnotationAssertion( "parkinsonian-pyramidal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060372"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome III) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3"^^xsd:string) "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258850"^^xsd:string) AnnotationAssertion( "MESH:C557817"^^xsd:string) AnnotationAssertion( "ORDO:2752"^^xsd:string) AnnotationAssertion( "OFDS III"^^xsd:string) AnnotationAssertion( "Sugarman syndrome"^^xsd:string) AnnotationAssertion( "brachydactyly of the hands and feet with duplication of the first toes"^^xsd:string) AnnotationAssertion( "brachydactyly with major proximal phalangeal shortening"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 3"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type III"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060373"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome IV) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4"^^xsd:string) "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258860"^^xsd:string) AnnotationAssertion( "MESH:C537133"^^xsd:string) AnnotationAssertion( "ORDO:2753"^^xsd:string) AnnotationAssertion( "Baraitser-Burn syndrome"^^xsd:string) AnnotationAssertion( "Mohr-Majewski Syndrome"^^xsd:string) AnnotationAssertion( "OFD Syndrome, Baraitser-Burn Type"^^xsd:string) AnnotationAssertion( "OFD syndrome with tibial defects"^^xsd:string) AnnotationAssertion( "OFD4"^^xsd:string) AnnotationAssertion( "OFDS IV"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type IV"^^xsd:string) AnnotationAssertion( "orofacial-digital syndrome IV"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 4"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome with tibial dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060374"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome IV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome V) AnnotationAssertion(Annotation( "PMID:23972372"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5"^^xsd:string) "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:174300"^^xsd:string) AnnotationAssertion( "MESH:C557819"^^xsd:string) AnnotationAssertion( "ORDO:2919"^^xsd:string) AnnotationAssertion( "DDX59-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OFD5"^^xsd:string) AnnotationAssertion( "OFDS V"^^xsd:string) AnnotationAssertion( "Thurston syndrome"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 5"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type V"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 5"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome Thurston type"^^xsd:string) AnnotationAssertion( "postaxial polydactyly with median cleft of upper lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060375"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome with orofaciodigital defect) AnnotationAssertion(Annotation( "PMID:23716954"^^xsd:string) "A Joubert syndrome that is characterized by orofaciodigital defect. (DO)"^^xsd:string) AnnotationAssertion( "CPLANE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4412"^^xsd:string) AnnotationAssertion( "MESH:C536531"^^xsd:string) AnnotationAssertion( "MIM:277170"^^xsd:string) AnnotationAssertion( "MONDO:0010176"^^xsd:string) AnnotationAssertion( "NCI:C124841"^^xsd:string) AnnotationAssertion( "ORDO:2754"^^xsd:string) AnnotationAssertion( "OFD6"^^xsd:string) AnnotationAssertion( "OFDS VI"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome, Type VI"^^xsd:string) AnnotationAssertion( "Orofaciodigital Syndrome VI"^^xsd:string) AnnotationAssertion( "Orofaciodigital syndrome 6"^^xsd:string) AnnotationAssertion( "Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation"^^xsd:string) AnnotationAssertion( "Varadi Papp syndrome"^^xsd:string) AnnotationAssertion( "Varadi syndrome"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type 6"^^xsd:string) AnnotationAssertion( "polydactyly, cleft lip palate, psychomotor retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060376"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome with orofaciodigital defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome VII) AnnotationAssertion(Annotation( "PMID:14598343"^^xsd:string) "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608518"^^xsd:string) AnnotationAssertion( "MESH:C563104"^^xsd:string) AnnotationAssertion( "ORDO:90649"^^xsd:string) AnnotationAssertion( "OFD7"^^xsd:string) AnnotationAssertion( "OFDS VII"^^xsd:string) AnnotationAssertion( "Whelan syndrome"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type VII"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060377"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome VII"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome VIII) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8"^^xsd:string) "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300484"^^xsd:string) AnnotationAssertion( "GARD:4060"^^xsd:string) AnnotationAssertion( "MESH:C557820"^^xsd:string) AnnotationAssertion( "ORDO:2755"^^xsd:string) AnnotationAssertion( "OFD syndrome 8"^^xsd:string) AnnotationAssertion( "OFD8"^^xsd:string) AnnotationAssertion( "OFDS 8"^^xsd:string) AnnotationAssertion( "OFDS VIII"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 8"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome type 8"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome with hypoplastic epiglottis"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, Edwards type"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 8"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome, Edwards type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060378"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome VIII"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis"^^xsd:string) "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060379"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome X) AnnotationAssertion(Annotation( "PMID:8261648"^^xsd:string) "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. (DO)"^^xsd:string) AnnotationAssertion( "MIM:165590"^^xsd:string) AnnotationAssertion( "MESH:C563491"^^xsd:string) AnnotationAssertion( "ORDO:2756"^^xsd:string) AnnotationAssertion( "OFD10"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome with Fibular Aplasia"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type X"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 10"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome with fibular aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060380"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome X"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XI) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11"^^xsd:string) "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612913"^^xsd:string) AnnotationAssertion( "MESH:C557821"^^xsd:string) AnnotationAssertion( "ORDO:141000"^^xsd:string) AnnotationAssertion( "Gabrielli syndrome"^^xsd:string) AnnotationAssertion( "OFD11"^^xsd:string) AnnotationAssertion( "OFDS XI"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome with Skeletal Anomalies"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome, Type XI"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 11"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060381"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XI"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome IX) AnnotationAssertion(Annotation( "PMID:18000902"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9"^^xsd:string) "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258865"^^xsd:string) AnnotationAssertion( "GARD:10520"^^xsd:string) AnnotationAssertion( "MESH:C557818"^^xsd:string) AnnotationAssertion( "ORDO:141007"^^xsd:string) AnnotationAssertion( "OFD9"^^xsd:string) AnnotationAssertion( "OFDS IX"^^xsd:string) AnnotationAssertion( "oral facial digital syndrome, type IX"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 9"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome with retinal abnormalities"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 9"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome with retinal abnormalities"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome, type 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060382"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome IX"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis Rodriguez type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type"^^xsd:string) "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "GARD:496"^^xsd:string) AnnotationAssertion( "MESH:C538183"^^xsd:string) AnnotationAssertion( "MIM:201170"^^xsd:string) AnnotationAssertion( "MONDO:0008714"^^xsd:string) AnnotationAssertion( "ORDO:1788"^^xsd:string) AnnotationAssertion( "Rodriguez lethal acrofacial dysostosis syndrome"^^xsd:string) AnnotationAssertion( "acrofacial dysostosis syndrome of Rodriguez"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060383"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis Rodriguez type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis, Catania type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type"^^xsd:string) "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101805"^^xsd:string) AnnotationAssertion( "RDO:0004125"^^xsd:string) AnnotationAssertion( "GARD:494"^^xsd:string) AnnotationAssertion( "MESH:C538182"^^xsd:string) AnnotationAssertion( "ORDO:1786"^^xsd:string) AnnotationAssertion( "Acrofacial Dysostosis Catania Form"^^xsd:string) AnnotationAssertion( "Opitz Mollica Sorge syndrome"^^xsd:string) AnnotationAssertion( "Opitz-Caltabiano syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060384"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis, Catania type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis, Patagonia type) AnnotationAssertion(Annotation( "PMID:9098488"^^xsd:string) "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538185"^^xsd:string) AnnotationAssertion( "MIM:601829"^^xsd:string) AnnotationAssertion( "MONDO:0011154"^^xsd:string) AnnotationAssertion( "ORDO:1787"^^xsd:string) AnnotationAssertion( "Palagonia type of acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060385"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis, Patagonia type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chilblain lupus) AnnotationAssertion(Annotation( "MIM:610448"^^xsd:string) "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS610448"^^xsd:string) AnnotationAssertion( "MONDO:0019557"^^xsd:string) AnnotationAssertion( "ORDO:90280"^^xsd:string) AnnotationAssertion( "Chilblain lupus erythematosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060386"^^xsd:string) AnnotationAssertion(rdfs:label "Chilblain lupus"^^xsd:string) SubClassOf( ) # Class: (chondrodysplasia Blomstrand type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type"^^xsd:string) "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:914"^^xsd:string) AnnotationAssertion( "MESH:C537914"^^xsd:string) AnnotationAssertion( "MIM:215045"^^xsd:string) AnnotationAssertion( "MONDO:0008970"^^xsd:string) AnnotationAssertion( "NCI:C131420"^^xsd:string) AnnotationAssertion( "ORDO:50945"^^xsd:string) AnnotationAssertion( "BOCD"^^xsd:string) AnnotationAssertion( "Blomstrand lethal chondrodysplasia"^^xsd:string) AnnotationAssertion( "Blomstrand lethal osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "Blomstrand osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "Blomstrand syndrome"^^xsd:string) AnnotationAssertion( "lethal congenital dwarfism with accelerated skeletal maturation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060387"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia Blomstrand type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosomal deletion syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome"^^xsd:string) Annotation( "https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK23758/"^^xsd:string) "A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "chromosome deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060388"^^xsd:string) AnnotationAssertion(rdfs:label "chromosomal deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 10q23 deletion syndrome) AnnotationAssertion(Annotation( "PMID:21248748"^^xsd:string) "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612242"^^xsd:string) AnnotationAssertion( "MESH:C567385"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060389"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 10q23 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal 10q deletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion"^^xsd:string) "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609625"^^xsd:string) AnnotationAssertion( "RDO:0015324"^^xsd:string) AnnotationAssertion( "MESH:C567182"^^xsd:string) AnnotationAssertion( "ORDO:96148"^^xsd:string) AnnotationAssertion( "Terminal Chromosome 10q26 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "chromosome 10q26 deletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 10q"^^xsd:string) AnnotationAssertion( "monosomy 10qter"^^xsd:string) AnnotationAssertion( "telomeric deletion 10q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060390"^^xsd:string) AnnotationAssertion(rdfs:label "distal 10q deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 13q14 deletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/"^^xsd:string) "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613884"^^xsd:string) AnnotationAssertion( "ORDO:1587"^^xsd:string) AnnotationAssertion( "deletion 13q14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060391"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 13q14 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 14q11-q22 deletion syndrome) AnnotationAssertion(Annotation( "PMID:21744488"^^xsd:string) "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613457"^^xsd:string) AnnotationAssertion( "ORDO:261120"^^xsd:string) AnnotationAssertion( "14q11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Zahir-Friedman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060392"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 14q11-q22 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 15q11.2 deletion syndrome) AnnotationAssertion(Annotation( "MIM:615656"^^xsd:string) "A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615656"^^xsd:string) AnnotationAssertion( "MESH:C557830"^^xsd:string) AnnotationAssertion( "ORDO:261183"^^xsd:string) AnnotationAssertion( "15q11.2 microdeletion"^^xsd:string) AnnotationAssertion( "15q11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 15q11-q13 duplication syndrome"^^xsd:string) AnnotationAssertion( "duplication 15q11-q13 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060393"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q11.2 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q13.3 microdeletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612001"^^xsd:string) AnnotationAssertion( "GARD:10296"^^xsd:string) AnnotationAssertion( "MESH:C567439"^^xsd:string) AnnotationAssertion( "ORDO:199318"^^xsd:string) AnnotationAssertion( "15q13.3 microdeletion"^^xsd:string) AnnotationAssertion( "15q13.3 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 15q13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060394"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q13.3 microdeletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q24 deletion syndrome) AnnotationAssertion(Annotation( "MIM:613406"^^xsd:string) "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613406"^^xsd:string) AnnotationAssertion( "GARD:12219"^^xsd:string) AnnotationAssertion( "MESH:C579849"^^xsd:string) AnnotationAssertion( "ORDO:94065"^^xsd:string) AnnotationAssertion( "15q24 deletion"^^xsd:string) AnnotationAssertion( "15q24 microdeletion"^^xsd:string) AnnotationAssertion( "15q24 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "SIN3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "WITKOS"^^xsd:string) AnnotationAssertion( "Witteveen-Kolk syndrome"^^xsd:string) AnnotationAssertion( "interstitial deletion of chromosome 15q24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060395"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q24 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q25 deletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion"^^xsd:string) "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614294"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060396"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q25 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q26-qter deletion syndrome) AnnotationAssertion(Annotation( "PMID:18651844"^^xsd:string) "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612626"^^xsd:string) AnnotationAssertion( "MESH:C567232"^^xsd:string) AnnotationAssertion( "ORDO:1596"^^xsd:string) AnnotationAssertion( "15q26 deletion syndrome"^^xsd:string) AnnotationAssertion( "Drayer Syndrome"^^xsd:string) AnnotationAssertion( "distal 15q deletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 15q"^^xsd:string) AnnotationAssertion( "telomeric 15q deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060397"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q26-qter deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 16p11.2 deletion syndrome, 220-kb) AnnotationAssertion(Annotation( "PMID:20808231"^^xsd:string) "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613444"^^xsd:string) AnnotationAssertion( "NCI:C120408"^^xsd:string) AnnotationAssertion( "ORDO:261222"^^xsd:string) AnnotationAssertion( "chromosome 16p11.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "distal 16p11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060398"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p11.2 deletion syndrome, 220-kb"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p12.1 deletion syndrome) AnnotationAssertion(Annotation( "PMID:20154674"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:136570"^^xsd:string) AnnotationAssertion( "NCI:C129875"^^xsd:string) AnnotationAssertion( "chromosome 16p12.1 deletion syndrome, 520kb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060399"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p12.1 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p12.2-p11.2 deletion syndrome) AnnotationAssertion(Annotation( "PMID:19449418"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613604"^^xsd:string) AnnotationAssertion( "ORDO:261211"^^xsd:string) AnnotationAssertion( "16p11.2-p12.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "16p11.2p12.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060400"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p12.2-p11.2 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 16q22 deletion syndrome) AnnotationAssertion(Annotation( "PMID:1605249"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614541"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060401"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16q22 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 17p13.1 deletion syndrome) AnnotationAssertion(Annotation( "PMID:19617690"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10996"^^xsd:string) AnnotationAssertion( "MIM:613776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060402"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17p13.1 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q11.2 deletion syndrome) AnnotationAssertion(Annotation( "PMID:10631140"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613675"^^xsd:string) AnnotationAssertion( "MIM:614192"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.0"^^xsd:string) AnnotationAssertion( "MESH:C563524"^^xsd:string) AnnotationAssertion( "ORDO:97685"^^xsd:string) AnnotationAssertion( "17q11 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "MMFD"^^xsd:string) AnnotationAssertion( "NF1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Van Asperen syndrome"^^xsd:string) AnnotationAssertion( "chromosome 17q11.2 deletion syndrome, 1.4Mb"^^xsd:string) AnnotationAssertion( "macrocephaly, macrosomia, and facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "macrocephaly, macrosomia, facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060403"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q11.2 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q12 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13297"^^xsd:string) AnnotationAssertion( "MIM:614527"^^xsd:string) AnnotationAssertion( "ORDO:261265"^^xsd:string) AnnotationAssertion( "17q12 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060404"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q12 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q23.1-q23.2 deletion syndrome) AnnotationAssertion(Annotation( "PMID:20598276"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10936"^^xsd:string) AnnotationAssertion( "MIM:613355"^^xsd:string) AnnotationAssertion( "ORDO:261279"^^xsd:string) AnnotationAssertion( "17q23.1-q23.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "17q23.1q23.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060405"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q23.1-q23.2 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 18p deletion syndrome) AnnotationAssertion(Annotation( "PMID:16691587"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8631"^^xsd:string) AnnotationAssertion( "MESH:C538309"^^xsd:string) AnnotationAssertion( "MIM:146390"^^xsd:string) AnnotationAssertion( "MONDO:0007800"^^xsd:string) AnnotationAssertion( "NCI:C84521"^^xsd:string) AnnotationAssertion( "ORDO:1598"^^xsd:string) AnnotationAssertion( "18p deletion syndrome"^^xsd:string) AnnotationAssertion( "18p minus syndrome"^^xsd:string) AnnotationAssertion( "18p- syndrome"^^xsd:string) AnnotationAssertion( "De Grouchy syndrome"^^xsd:string) AnnotationAssertion( "Del(18p) syndrome"^^xsd:string) AnnotationAssertion( "monosomy 18p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060406"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 18p deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 18q deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536580"^^xsd:string) AnnotationAssertion( "MIM:601808"^^xsd:string) AnnotationAssertion( "MONDO:0011147"^^xsd:string) AnnotationAssertion( "ORDO:1600"^^xsd:string) AnnotationAssertion( "18q syndrome"^^xsd:string) AnnotationAssertion( "chromosome 18, monosomy 18Q"^^xsd:string) AnnotationAssertion( "chromosome 18q syndrome"^^xsd:string) AnnotationAssertion( "deletion 18q"^^xsd:string) AnnotationAssertion( "monosomy 18q"^^xsd:string) AnnotationAssertion( "monosomy 18q syndrome"^^xsd:string) AnnotationAssertion( "monosomy 18q, deletion 18q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060407"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 18q deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 19q13.11 deletion syndrome) AnnotationAssertion(Annotation( "PMID:24243649"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613026"^^xsd:string) AnnotationAssertion( "GARD:10592"^^xsd:string) AnnotationAssertion( "MESH:C567810"^^xsd:string) AnnotationAssertion( "ORDO:217346"^^xsd:string) AnnotationAssertion( "19q13.11 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 19q13.11 deletion syndrome, distal"^^xsd:string) AnnotationAssertion( "monosomy 19q13.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060408"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 19q13.11 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NFIA-related disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK542336/"^^xsd:string) "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613735"^^xsd:string) AnnotationAssertion( "ORDO:401986"^^xsd:string) AnnotationAssertion( "BRMUTD"^^xsd:string) AnnotationAssertion( "NFIA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "brain malformations with or without urinary tract defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "1p31p32 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 1p32-p31 deletion syndrome"^^xsd:string) AnnotationAssertion( "DOID:0060409"^^xsd:string) AnnotationAssertion(rdfs:label "NFIA-related disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 1p36 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607872"^^xsd:string) AnnotationAssertion( "GARD:6082"^^xsd:string) AnnotationAssertion( "MESH:C535362"^^xsd:string) AnnotationAssertion( "NCI:C74983"^^xsd:string) AnnotationAssertion( "ORDO:1606"^^xsd:string) AnnotationAssertion( "1p36 deletion syndrome"^^xsd:string) AnnotationAssertion( "1p36.33 deletion"^^xsd:string) AnnotationAssertion( "chromosome 1, 1p36 deletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 1p36 deletion syndrome, distal"^^xsd:string) AnnotationAssertion( "deletion 1p36"^^xsd:string) AnnotationAssertion( "monosomy 1p36"^^xsd:string) AnnotationAssertion( "monosomy 1p36 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "subtelomeric 1p36 deletion"^^xsd:string) AnnotationAssertion( "DOID:0060410"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1p36 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 1q21.1 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/1q211-microdeletion"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612474"^^xsd:string) AnnotationAssertion( "GARD:10813"^^xsd:string) AnnotationAssertion( "MESH:C567291"^^xsd:string) AnnotationAssertion( "ORDO:250989"^^xsd:string) AnnotationAssertion( "1q21.1 Deletion"^^xsd:string) AnnotationAssertion( "1q21.1 Microdeletion"^^xsd:string) AnnotationAssertion( "1q21.1 contiguous gene deletion"^^xsd:string) AnnotationAssertion( "1q21.1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 1q21.1 deletion syndrome, 1.35-Mb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "monosomy 1q21.1"^^xsd:string) AnnotationAssertion( "DOID:0060411"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1q21.1 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 1q41-q42 deletion syndrome) AnnotationAssertion(Annotation( "PMID:16736036"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3738"^^xsd:string) AnnotationAssertion( "MIM:612530"^^xsd:string) AnnotationAssertion( "MONDO:0012927"^^xsd:string) AnnotationAssertion( "ORDO:250999"^^xsd:string) AnnotationAssertion( "1q41-q42 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "1q41q42 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060412"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1q41-q42 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 22q11.2 deletion syndrome, distal) AnnotationAssertion(Annotation( "PMID:18179902"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611867"^^xsd:string) AnnotationAssertion( "MESH:C567511"^^xsd:string) AnnotationAssertion( "ORDO:261330"^^xsd:string) AnnotationAssertion( "DiGeorge syndrome and Velocardiofacial syndrome"^^xsd:string) AnnotationAssertion( "distal 22q11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060413"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 22q11.2 deletion syndrome, distal"^^xsd:string) SubClassOf( ) # Class: (chromosome 2p12-p11.2 deletion syndrome) AnnotationAssertion(Annotation( "PMID:19764038"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613564"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060414"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2p12-p11.2 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 2p16.1-p15 deletion syndrome) AnnotationAssertion(Annotation( "PMID:26019277"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612513"^^xsd:string) AnnotationAssertion( "GARD:13391"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.5"^^xsd:string) AnnotationAssertion( "MESH:C567289"^^xsd:string) AnnotationAssertion( "ORDO:261349"^^xsd:string) AnnotationAssertion( "2p15-p16.1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "2p15p16.1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060415"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2p16.1-p15 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 2q31.2 deletion syndrome) AnnotationAssertion(Annotation( "PMID:19248183"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612345"^^xsd:string) AnnotationAssertion( "MESH:C567344"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060416"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2q31.2 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3p deletion syndrome) AnnotationAssertion(Annotation( "PMID:19760623"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613792"^^xsd:string) AnnotationAssertion( "ORDO:1620"^^xsd:string) AnnotationAssertion( "3p- syndrome"^^xsd:string) AnnotationAssertion( "chromosome 3pter-P25 deletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 3p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060417"^^xsd:string) AnnotationAssertion(rdfs:label "3p deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 3q13.31 deletion syndrome) AnnotationAssertion(Annotation( "PMID:22180640"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615433"^^xsd:string) AnnotationAssertion( "MESH:C536808"^^xsd:string) AnnotationAssertion( "ORDO:1621"^^xsd:string) AnnotationAssertion( "3q13 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 3, monosomy 3q13"^^xsd:string) AnnotationAssertion( "deletion 3q13"^^xsd:string) AnnotationAssertion( "monosomy 3q13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060418"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 3q13.31 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 3q29 microdeletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK385289/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609425"^^xsd:string) AnnotationAssertion( "GARD:11974"^^xsd:string) AnnotationAssertion( "MESH:C567184"^^xsd:string) AnnotationAssertion( "ORDO:65286"^^xsd:string) AnnotationAssertion( "3q subtelomere deletion syndrome"^^xsd:string) AnnotationAssertion( "3q29 recurrent deletion"^^xsd:string) AnnotationAssertion( "3qter deletion"^^xsd:string) AnnotationAssertion( "microdeletion 3q29 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060419"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 3q29 microdeletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 4q21 deletion syndrome) AnnotationAssertion(Annotation( "PMID:20522426"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613509"^^xsd:string) AnnotationAssertion( "ORDO:238750"^^xsd:string) AnnotationAssertion( "4q21 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 4q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060420"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 4q21 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 5q12 deletion syndrome) AnnotationAssertion(Annotation( "PMID:24203977"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615668"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060421"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 5q12 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 6pter-p24 deletion syndrome) AnnotationAssertion(Annotation( "PMID:18629875"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612582"^^xsd:string) AnnotationAssertion( "MESH:C567239"^^xsd:string) AnnotationAssertion( "ORDO:96125"^^xsd:string) AnnotationAssertion( "6p subtelomeric deletion syndrome"^^xsd:string) AnnotationAssertion( "6p25 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 6p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060422"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 6pter-p24 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 6q11-q14 deletion syndrome) AnnotationAssertion(Annotation( "PMID:19213033"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613544"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060423"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 6q11-q14 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 6q24-q25 deletion syndrome) AnnotationAssertion(Annotation( "PMID:17512813"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612863"^^xsd:string) AnnotationAssertion( "ORDO:251056"^^xsd:string) AnnotationAssertion( "6q25 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 6q25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060424"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 6q24-q25 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 8q21.11 deletion syndrome) AnnotationAssertion(Annotation( "PMID:21802062"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614230"^^xsd:string) AnnotationAssertion( "ORDO:284160"^^xsd:string) AnnotationAssertion( "8q21.11 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060425"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 8q21.11 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 19p13.13 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613638"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060426"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 19p13.13 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome Xp21 deletion syndrome) AnnotationAssertion(Annotation( "PMID:17089405"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300679"^^xsd:string) AnnotationAssertion( "ORDO:261476"^^xsd:string) AnnotationAssertion( "Xp21 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "complex glycerol kinase deficiency"^^xsd:string) AnnotationAssertion( "monosomy Xp21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060427"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome Xp21 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (SATB2-associated syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK458647/"^^xsd:string) "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567350"^^xsd:string) AnnotationAssertion( "MIM:612313"^^xsd:string) AnnotationAssertion( "MONDO:0012864"^^xsd:string) AnnotationAssertion( "ORDO:251019"^^xsd:string) AnnotationAssertion( "2q32-q33 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "2q32q33 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Glass"^^xsd:string) AnnotationAssertion( "Glass Syndrome"^^xsd:string) AnnotationAssertion( "SATB2 ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "SATB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SATB2-related disorder"^^xsd:string) AnnotationAssertion( "chromosome 2q32-q33 deletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 2q32"^^xsd:string) AnnotationAssertion( "monosomy 2q32-q33"^^xsd:string) AnnotationAssertion( "monosomy 2q32q33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060428"^^xsd:string) AnnotationAssertion(rdfs:label "SATB2-associated syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosomal duplication syndrome) AnnotationAssertion(Annotation( "https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/"^^xsd:string) "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D058674"^^xsd:string) AnnotationAssertion( "Chromosomal Duplication"^^xsd:string) AnnotationAssertion( "Chromosome Duplication"^^xsd:string) AnnotationAssertion( "chromosomal duplications"^^xsd:string) AnnotationAssertion( "chromosome duplications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060429"^^xsd:string) AnnotationAssertion(rdfs:label "chromosomal duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 16p11.2 duplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/16p112-duplication"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12388"^^xsd:string) AnnotationAssertion( "MIM:614671"^^xsd:string) AnnotationAssertion( "MONDO:0013847"^^xsd:string) AnnotationAssertion( "ORDO:370079"^^xsd:string) AnnotationAssertion( "proximal 16p11.2 microduplication syndrome"^^xsd:string) AnnotationAssertion( "proximal dup(16)(p11.2)"^^xsd:string) AnnotationAssertion( "proximal trisomy 16p11.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060430"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p11.2 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p13.3 duplication syndrome) AnnotationAssertion(Annotation( "PMID:19833603"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613458"^^xsd:string) AnnotationAssertion( "ORDO:96078"^^xsd:string) AnnotationAssertion( "16p13.3 microduplication syndrome"^^xsd:string) AnnotationAssertion( "distal duplication 16p"^^xsd:string) AnnotationAssertion( "distal trisomy 16p"^^xsd:string) AnnotationAssertion( "telomeric duplication 16p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060431"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p13.3 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 17p13.3 duplication syndrome) AnnotationAssertion(Annotation( "PMID:19136950"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567705"^^xsd:string) AnnotationAssertion( "MIM:613215"^^xsd:string) AnnotationAssertion( "MONDO:0013182"^^xsd:string) AnnotationAssertion( "ORDO:217385"^^xsd:string) AnnotationAssertion( "17p13.3 duplication syndrome"^^xsd:string) AnnotationAssertion( "17p13.3 microduplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome 17p13.3 centromeric duplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17p13.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060432"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17p13.3 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q12 duplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/17q12-duplication"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK344340/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13296"^^xsd:string) AnnotationAssertion( "MIM:614526"^^xsd:string) AnnotationAssertion( "ORDO:261272"^^xsd:string) AnnotationAssertion( "17q12 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17q12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060433"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q12 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 17q21.31 duplication syndrome) AnnotationAssertion(Annotation( "PMID:19502243"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q92.3"^^xsd:string) AnnotationAssertion( "MIM:613533"^^xsd:string) AnnotationAssertion( "ORDO:217340"^^xsd:string) AnnotationAssertion( "17q21.31 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17q21.31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060434"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q21.31 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 1q21.1 duplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/1q211-microduplication"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612475"^^xsd:string) AnnotationAssertion( "GARD:10591"^^xsd:string) AnnotationAssertion( "MESH:C567290"^^xsd:string) AnnotationAssertion( "ORDO:250994"^^xsd:string) AnnotationAssertion( "1q21.1 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 1q21.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060435"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1q21.1 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 22q11.2 microduplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/22q112-duplication"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608363"^^xsd:string) AnnotationAssertion( "MESH:C567224"^^xsd:string) AnnotationAssertion( "ORDO:1727"^^xsd:string) AnnotationAssertion( "22q11.2 duplication"^^xsd:string) AnnotationAssertion( "22q11.2 microduplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome 22q11.2 duplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 22q11.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060436"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 22q11.2 microduplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 22q13 duplication syndrome) AnnotationAssertion(Annotation( "PMID:24153177"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615538"^^xsd:string) AnnotationAssertion( "MONDO:0014235"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060437"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 22q13 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (Cole-Carpenter syndrome) AnnotationAssertion(Annotation( "PMID:10842295"^^xsd:string) "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535963"^^xsd:string) AnnotationAssertion( "MIM:PS112240"^^xsd:string) AnnotationAssertion( "NCI:C130985"^^xsd:string) AnnotationAssertion( "ORDO:2050"^^xsd:string) AnnotationAssertion( "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060438"^^xsd:string) AnnotationAssertion(rdfs:label "Cole-Carpenter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lysinuric protein intolerance) AnnotationAssertion(Annotation( "PMID:1155480"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1361/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance"^^xsd:string) "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222700"^^xsd:string) AnnotationAssertion( "GARD:3335"^^xsd:string) AnnotationAssertion( "MESH:C562687"^^xsd:string) AnnotationAssertion( "NCI:C121563"^^xsd:string) AnnotationAssertion( "ORDO:470"^^xsd:string) AnnotationAssertion( "RDO:0012291"^^xsd:string) AnnotationAssertion( "Dibasic Amino Aciduria II"^^xsd:string) AnnotationAssertion( "Hyperdibasic Aminoaciduria"^^xsd:string) AnnotationAssertion( "LPI"^^xsd:string) AnnotationAssertion( "LPI - Lysinuric Protein Intolerance"^^xsd:string) AnnotationAssertion( "SLC7A7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060439"^^xsd:string) AnnotationAssertion(rdfs:label "lysinuric protein intolerance"^^xsd:string) SubClassOf( ) # Class: (epithelial and subepithelial dystrophy) AnnotationAssertion(Annotation( "PMID:19236704"^^xsd:string) "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004322"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060440"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial and subepithelial dystrophy"^^xsd:string) SubClassOf( ) # Class: (epithelial-stromal TGFBI dystrophy) AnnotationAssertion(Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string) "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "TGFBI-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RDO:9004323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060441"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial-stromal TGFBI dystrophy"^^xsd:string) SubClassOf( ) # Class: (stromal dystrophy) AnnotationAssertion(Annotation( "PMID:19236704"^^xsd:string) "A corneal dystrophy that affects the corneal stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004324"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060442"^^xsd:string) AnnotationAssertion(rdfs:label "stromal dystrophy"^^xsd:string) SubClassOf( ) # Class: (corneal endothelial dystrophy) AnnotationAssertion(Annotation( "PMID:19236704"^^xsd:string) "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "dystrophy of corneal endothelium"^^xsd:string) AnnotationAssertion( "endothelial dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060443"^^xsd:string) AnnotationAssertion(rdfs:label "corneal endothelial dystrophy"^^xsd:string) SubClassOf( ) # Class: (granular corneal dystrophy 2) AnnotationAssertion(Annotation( "MIM:607541"^^xsd:string) Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string) "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535474"^^xsd:string) AnnotationAssertion( "MIM:607541"^^xsd:string) AnnotationAssertion( "MONDO:0011855"^^xsd:string) AnnotationAssertion( "ORDO:98963"^^xsd:string) AnnotationAssertion( "ACD"^^xsd:string) AnnotationAssertion( "Avellino corneal dystrophy"^^xsd:string) AnnotationAssertion( "CDA"^^xsd:string) AnnotationAssertion( "CGD2"^^xsd:string) AnnotationAssertion( "combined granular-lattice corneal dystrophies"^^xsd:string) AnnotationAssertion( "combined granular-lattice corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Avellino type"^^xsd:string) AnnotationAssertion( "granular and lattice corneal dystrophies"^^xsd:string) AnnotationAssertion( "granular corneal dystrophy type 2"^^xsd:string) AnnotationAssertion( "granular corneal dystrophy type II"^^xsd:string) AnnotationAssertion( "granular-lattice (Avellino) corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060444"^^xsd:string) AnnotationAssertion(rdfs:label "granular corneal dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (congenital stromal corneal dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK2690/"^^xsd:string) "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610048"^^xsd:string) AnnotationAssertion( "MESH:C566452"^^xsd:string) AnnotationAssertion( "ORDO:101068"^^xsd:string) AnnotationAssertion( "CSCD"^^xsd:string) AnnotationAssertion( "DCN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital hereditary stromal dystrophy"^^xsd:string) AnnotationAssertion( "congenital hereditary stromal dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "congenital stromal dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "decorin-associated congenital stromal corneal dystrophy"^^xsd:string) AnnotationAssertion( "dystrophia corneae parenchymatosa congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060445"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stromal corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked endothelial corneal dystrophy) AnnotationAssertion(Annotation( "PMID:16490493"^^xsd:string) "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300779"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.5"^^xsd:string) AnnotationAssertion( "MESH:C567587"^^xsd:string) AnnotationAssertion( "ORDO:293621"^^xsd:string) AnnotationAssertion( "XECD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060446"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked endothelial corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelial basement membrane dystrophy) AnnotationAssertion(Annotation( "PMID:16652336"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121820"^^xsd:string) AnnotationAssertion( "TGFBI-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C535477"^^xsd:string) AnnotationAssertion( "ORDO:98956"^^xsd:string) AnnotationAssertion( "Cogan corneal dystrophy"^^xsd:string) AnnotationAssertion( "Corneal Dystrophy, Map-Dot-Fingerprint Type"^^xsd:string) AnnotationAssertion( "EBMD"^^xsd:string) AnnotationAssertion( "anterior basement membrane corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Cogan type"^^xsd:string) AnnotationAssertion( "map-dot-fingerprint dystrophy of cornea"^^xsd:string) AnnotationAssertion( "microcystic corneal dystrophy"^^xsd:string) AnnotationAssertion( "microcystic dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060447"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial basement membrane dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fleck corneal dystrophy) AnnotationAssertion(Annotation( "PMID:23288988"^^xsd:string) Annotation( "PMID:26396486"^^xsd:string) "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121850"^^xsd:string) AnnotationAssertion( "MESH:C563256"^^xsd:string) AnnotationAssertion( "ORDO:98970"^^xsd:string) AnnotationAssertion( "CFD"^^xsd:string) AnnotationAssertion( "FCD"^^xsd:string) AnnotationAssertion( "Francois-Neetens corneal dystrophy, speckled or flecked"^^xsd:string) AnnotationAssertion( "Francois-Neetens speckled corneal dystrophy"^^xsd:string) AnnotationAssertion( "PIKFYVE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060448"^^xsd:string) AnnotationAssertion(rdfs:label "Fleck corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (gelatinous drop-like corneal dystrophy) AnnotationAssertion(Annotation( "PMID:10192395"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:204870"^^xsd:string) AnnotationAssertion( "MESH:C535480"^^xsd:string) AnnotationAssertion( "NCI:C142805"^^xsd:string) AnnotationAssertion( "ORDO:98957"^^xsd:string) AnnotationAssertion( "CDGDL"^^xsd:string) AnnotationAssertion( "Corneal amyloidosis"^^xsd:string) AnnotationAssertion( "GDCD"^^xsd:string) AnnotationAssertion( "GDLD"^^xsd:string) AnnotationAssertion( "TACSTD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyloid corneal dystrophy, Japanese type"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy type III"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy type3"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy, type 3"^^xsd:string) AnnotationAssertion( "primary familial amyloidosis of the cornea"^^xsd:string) AnnotationAssertion( "subepithelial amyloidosis of the cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060449"^^xsd:string) AnnotationAssertion(rdfs:label "gelatinous drop-like corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lisch epithelial corneal dystrophy) AnnotationAssertion(Annotation( "PMID:11024418"^^xsd:string) Annotation( "PMID:37972748"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO)"^^xsd:string) AnnotationAssertion( "MIM:620763"^^xsd:string) AnnotationAssertion( "MESH:C567588"^^xsd:string) AnnotationAssertion( "ORDO:98955"^^xsd:string) AnnotationAssertion( "LECD"^^xsd:string) AnnotationAssertion( "band-shaped and whorled microcystic corneal epithelial dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "band-shaped and whorled microcystic"^^xsd:string) AnnotationAssertion( "DOID:0060450"^^xsd:string) AnnotationAssertion(rdfs:label "Lisch epithelial corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meesmann corneal dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9688"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.52"^^xsd:string) AnnotationAssertion( "ICD9CM:371.51"^^xsd:string) AnnotationAssertion( "MESH:D053559"^^xsd:string) AnnotationAssertion( "MIM:PS122100"^^xsd:string) AnnotationAssertion( "NCI:C84795"^^xsd:string) AnnotationAssertion( "ORDO:98954"^^xsd:string) AnnotationAssertion( "Juvenile Hereditary Epithelial Dystrophy"^^xsd:string) AnnotationAssertion( "MECD"^^xsd:string) AnnotationAssertion( "Meesman's corneal dystrophy"^^xsd:string) AnnotationAssertion( "Meesmann corneal dystrophies"^^xsd:string) AnnotationAssertion( "Meesmann corneal epithelial dystrophy"^^xsd:string) AnnotationAssertion( "Stocker-Holt dystrophy"^^xsd:string) AnnotationAssertion( "juvenile epithelial corneal dystrophy of Meesmann"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060451"^^xsd:string) AnnotationAssertion(rdfs:label "Meesmann corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (posterior amorphous corneal dystrophy) AnnotationAssertion(Annotation( "PMID:27096414"^^xsd:string) "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567546"^^xsd:string) AnnotationAssertion( "MIM:612868"^^xsd:string) AnnotationAssertion( "MONDO:0013027"^^xsd:string) AnnotationAssertion( "ORDO:98971"^^xsd:string) AnnotationAssertion( "PACD"^^xsd:string) AnnotationAssertion( "chromosome 12q21.33 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060452"^^xsd:string) AnnotationAssertion(rdfs:label "posterior amorphous corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Reis-Bucklers corneal dystrophy) AnnotationAssertion(Annotation( "MIM:608470"^^xsd:string) "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535476"^^xsd:string) AnnotationAssertion( "MIM:608470"^^xsd:string) AnnotationAssertion( "MONDO:0012043"^^xsd:string) AnnotationAssertion( "ORDO:98961"^^xsd:string) AnnotationAssertion( "CDB1"^^xsd:string) AnnotationAssertion( "CDRB"^^xsd:string) AnnotationAssertion( "RBCD"^^xsd:string) AnnotationAssertion( "Reis-Bucklers dystrophy"^^xsd:string) AnnotationAssertion( "anterior limiting membrane dystrophy type I"^^xsd:string) AnnotationAssertion( "corneal dystrophy of Bowman layer, type 1"^^xsd:string) AnnotationAssertion( "corneal dystrophy of Bowman layer, type I"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Reis-Bucklers type"^^xsd:string) AnnotationAssertion( "geographic corneal dystrophy"^^xsd:string) AnnotationAssertion( "granular corneal dystrophy type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060453"^^xsd:string) AnnotationAssertion(rdfs:label "Reis-Bucklers corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (subepithelial mucinous corneal dystrophy) AnnotationAssertion(Annotation( "PMID:8352693"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612867"^^xsd:string) AnnotationAssertion( "MESH:C567547"^^xsd:string) AnnotationAssertion( "ORDO:98959"^^xsd:string) AnnotationAssertion( "SMCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060454"^^xsd:string) AnnotationAssertion(rdfs:label "subepithelial mucinous corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (Thiel-Behnke corneal dystrophy) AnnotationAssertion(Annotation( "MIM:602082"^^xsd:string) "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602082"^^xsd:string) AnnotationAssertion( "MESH:C535942"^^xsd:string) AnnotationAssertion( "ORDO:98960"^^xsd:string) AnnotationAssertion( "CDB2"^^xsd:string) AnnotationAssertion( "CDTB"^^xsd:string) AnnotationAssertion( "TBCD"^^xsd:string) AnnotationAssertion( "Waardenburg-Jonker corneal dystrophy"^^xsd:string) AnnotationAssertion( "anterior limiting membrane dystrophy type II"^^xsd:string) AnnotationAssertion( "corneal dystrophy honeycomb-shaped"^^xsd:string) AnnotationAssertion( "corneal dystrophy of Bowman layer, type II"^^xsd:string) AnnotationAssertion( "corneal dystrophy of the Bowman layer, type 2"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Thiel-Behnke type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060455"^^xsd:string) AnnotationAssertion(rdfs:label "Thiel-Behnke corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schnyder corneal dystrophy) AnnotationAssertion(Annotation( "PMID:23169578"^^xsd:string) "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121800"^^xsd:string) AnnotationAssertion( "GARD:9277"^^xsd:string) AnnotationAssertion( "MESH:C535475"^^xsd:string) AnnotationAssertion( "ORDO:98967"^^xsd:string) AnnotationAssertion( "SCCD"^^xsd:string) AnnotationAssertion( "Schnyder crystalline corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy crystalline of Schnyder"^^xsd:string) AnnotationAssertion( "crystalline stromal dystrophy"^^xsd:string) AnnotationAssertion( "hereditary crystalline stromal dystrophy of Schnyder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060456"^^xsd:string) AnnotationAssertion(rdfs:label "Schnyder corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posterior polymorphous corneal dystrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy"^^xsd:string) "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS122000"^^xsd:string) AnnotationAssertion( "ORDO:98973"^^xsd:string) AnnotationAssertion( "PPCD"^^xsd:string) AnnotationAssertion( "Schlichting dystrophy"^^xsd:string) AnnotationAssertion( "hereditary polymorphus posterior corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060457"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polymorphous corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (chromosome 2q31.1 duplication syndrome) AnnotationAssertion(Annotation( "PMID:20577005"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613681"^^xsd:string) AnnotationAssertion( "MONDO:0013363"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060458"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2q31.1 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 3q29 microduplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10360"^^xsd:string) AnnotationAssertion( "MESH:C567626"^^xsd:string) AnnotationAssertion( "MIM:611936"^^xsd:string) AnnotationAssertion( "ORDO:251038"^^xsd:string) AnnotationAssertion( "3q29 microduplication"^^xsd:string) AnnotationAssertion( "chromosome 3q29 duplication syndrome"^^xsd:string) AnnotationAssertion( "microduplication 3q29 syndrome"^^xsd:string) AnnotationAssertion( "trisomy 3q29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060459"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 3q29 microduplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 5p13 duplication syndrome) AnnotationAssertion(Annotation( "PMID:19052029"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613174"^^xsd:string) AnnotationAssertion( "MESH:C567717"^^xsd:string) AnnotationAssertion( "ORDO:329802"^^xsd:string) AnnotationAssertion( "5p13 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 5p13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060460"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 5p13 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome Xp11.23-p11.22 duplication syndrome) AnnotationAssertion(Annotation( "PMID:19716111"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300801"^^xsd:string) AnnotationAssertion( "ICD10CM:Q99.8"^^xsd:string) AnnotationAssertion( "MESH:C567585"^^xsd:string) AnnotationAssertion( "ORDO:217377"^^xsd:string) AnnotationAssertion( "microduplication Xp11.22-p11.23 syndrome"^^xsd:string) AnnotationAssertion( "trisomy Xp11.22-p11.23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060461"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome Xp11.23-p11.22 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Desbuquois dysplasia) AnnotationAssertion(Annotation( "PMID:19853239"^^xsd:string) Annotation( "PMID:21037275"^^xsd:string) "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1818"^^xsd:string) AnnotationAssertion( "MESH:C535943"^^xsd:string) AnnotationAssertion( "MIM:PS251450"^^xsd:string) AnnotationAssertion( "NCI:C124056"^^xsd:string) AnnotationAssertion( "ORDO:1425"^^xsd:string) AnnotationAssertion( "Desbuquois Syndrome"^^xsd:string) AnnotationAssertion( "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"^^xsd:string) AnnotationAssertion( "Desbuquois dysplasia, Kim variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060462"^^xsd:string) AnnotationAssertion(rdfs:label "Desbuquois dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NUT midline carcinoma) AnnotationAssertion(Annotation( "PMID:21221870"^^xsd:string) Annotation( "PMID:25685583"^^xsd:string) Annotation( "PMID:26378054"^^xsd:string) Annotation( "PMID:26402248"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/NUT_midline_carcinoma"^^xsd:string) "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "BRD4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0005783"^^xsd:string) AnnotationAssertion( "NCI:C45716"^^xsd:string) AnnotationAssertion( "ORDO:443167"^^xsd:string) AnnotationAssertion( "nuclear protein in testis midline carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060463"^^xsd:string) AnnotationAssertion(rdfs:label "NUT midline carcinoma"^^xsd:string) SubClassOf( ) # Class: (Feingold syndrome) AnnotationAssertion(Annotation( "PMID:14518066"^^xsd:string) Annotation( "PMID:16906565"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/feingold-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Feingold_syndrome"^^xsd:string) "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8407"^^xsd:string) AnnotationAssertion( "MESH:C537734"^^xsd:string) AnnotationAssertion( "MIM:PS164280"^^xsd:string) AnnotationAssertion( "ORDO:1305"^^xsd:string) AnnotationAssertion( "Brunner Winter syndrome"^^xsd:string) AnnotationAssertion( "FGLDS"^^xsd:string) AnnotationAssertion( "MMT syndrome"^^xsd:string) AnnotationAssertion( "MODED"^^xsd:string) AnnotationAssertion( "MODED syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome"^^xsd:string) AnnotationAssertion( "ODED"^^xsd:string) AnnotationAssertion( "ODED syndrome"^^xsd:string) AnnotationAssertion( "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum"^^xsd:string) AnnotationAssertion( "microcephaly and digital abnormalities with normal intelligence"^^xsd:string) AnnotationAssertion( "microcephaly-digital anomalies-normal intelligence syndrome"^^xsd:string) AnnotationAssertion( "microcephaly-oculo-digito-esophageal-duodenal syndrome"^^xsd:string) AnnotationAssertion( "oculo-digito-esophageal-duodenal syndrome"^^xsd:string) AnnotationAssertion( "oculo-digito-esophagoduodental (ODED) syndrome"^^xsd:string) AnnotationAssertion( "oculodigitoesophagoduodenal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060464"^^xsd:string) AnnotationAssertion(rdfs:label "Feingold syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fibrochondrogenesis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/fibrochondrogenesis"^^xsd:string) "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2321"^^xsd:string) AnnotationAssertion( "MESH:C562524"^^xsd:string) AnnotationAssertion( "MIM:PS228520"^^xsd:string) AnnotationAssertion( "ORDO:2021"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060465"^^xsd:string) AnnotationAssertion(rdfs:label "fibrochondrogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gingival fibromatosis) AnnotationAssertion(Annotation( "PMID:11868160"^^xsd:string) Annotation( "PMID:17385395"^^xsd:string) "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D005351"^^xsd:string) AnnotationAssertion( "MIM:PS135300"^^xsd:string) AnnotationAssertion( "ORDO:2024"^^xsd:string) AnnotationAssertion( "fibromatosis gingivae"^^xsd:string) AnnotationAssertion( "gingival fibromatoses"^^xsd:string) AnnotationAssertion( "hereditary gingival fibromatosis"^^xsd:string) AnnotationAssertion( "hereditary gingival hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060466"^^xsd:string) AnnotationAssertion(rdfs:label "gingival fibromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (humeroradial synostosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis"^^xsd:string) "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143050"^^xsd:string) AnnotationAssertion( "MIM:236400"^^xsd:string) AnnotationAssertion( "GARD:2748"^^xsd:string) AnnotationAssertion( "MESH:C535284"^^xsd:string) AnnotationAssertion( "ORDO:3265"^^xsd:string) AnnotationAssertion( "Ramer Ladda syndrome"^^xsd:string) AnnotationAssertion( "humero-radial fusion"^^xsd:string) AnnotationAssertion( "humero-radial synostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060467"^^xsd:string) AnnotationAssertion(rdfs:label "humeroradial synostosis"^^xsd:string) SubClassOf( ) # Class: (Holt-Oram syndrome) AnnotationAssertion(Annotation( "PMID:12223419"^^xsd:string) Annotation( "PMID:12436037"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/holt-oram-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Holt-Oram_syndrome"^^xsd:string) "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142900"^^xsd:string) AnnotationAssertion( "MIM:314600"^^xsd:string) AnnotationAssertion( "GARD:6666"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.2"^^xsd:string) AnnotationAssertion( "MESH:C535326"^^xsd:string) AnnotationAssertion( "NCI:C125592"^^xsd:string) AnnotationAssertion( "ORDO:392"^^xsd:string) AnnotationAssertion( "Atrio-Digital Syndrome"^^xsd:string) AnnotationAssertion( "Cardiac-Limb Syndrome"^^xsd:string) AnnotationAssertion( "Cervico-Oculo-Acoustic Syndrome"^^xsd:string) AnnotationAssertion( "CervicoOculoAcoustic Syndrome"^^xsd:string) AnnotationAssertion( "HOS"^^xsd:string) AnnotationAssertion( "HOS1"^^xsd:string) AnnotationAssertion( "Heart-Hand Syndrome, Type 1"^^xsd:string) AnnotationAssertion( "Heart-hand syndrome"^^xsd:string) AnnotationAssertion( "TBX5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Wildervanck syndrome"^^xsd:string) AnnotationAssertion( "atriodigital dysplasia"^^xsd:string) AnnotationAssertion( "ventriculo-radial syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060468"^^xsd:string) AnnotationAssertion(rdfs:label "Holt-Oram syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Miller-Dieker lissencephaly syndrome) AnnotationAssertion(Annotation( "PMID:21239872"^^xsd:string) Annotation( "PMID:9473821"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Miller-Dieker_syndrome"^^xsd:string) "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004023"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.88"^^xsd:string) AnnotationAssertion( "MIM:247200"^^xsd:string) AnnotationAssertion( "NCI:C124852"^^xsd:string) AnnotationAssertion( "ORDO:531"^^xsd:string) AnnotationAssertion( "MDCR"^^xsd:string) AnnotationAssertion( "MDLS"^^xsd:string) AnnotationAssertion( "MDS"^^xsd:string) AnnotationAssertion( "MDS chromosome 17p13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "Miller-Dieker lissencephaly"^^xsd:string) AnnotationAssertion( "Miller-Dieker syndrome"^^xsd:string) AnnotationAssertion( "Miller-Dieker syndrome chromosome region"^^xsd:string) AnnotationAssertion( "chromosome 17p13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060469"^^xsd:string) AnnotationAssertion(rdfs:label "Miller-Dieker lissencephaly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (salt and pepper syndrome) AnnotationAssertion(Annotation( "PMID:24026681"^^xsd:string) "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609056"^^xsd:string) AnnotationAssertion( "MESH:C563799"^^xsd:string) AnnotationAssertion( "NCI:C206525"^^xsd:string) AnnotationAssertion( "ORDO:370938"^^xsd:string) AnnotationAssertion( "Amish infantile epilepsy syndrome"^^xsd:string) AnnotationAssertion( "GM3 Synthase Deficiency"^^xsd:string) AnnotationAssertion( "INFANTILE EPILEPSY SYNDROME"^^xsd:string) AnnotationAssertion( "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME"^^xsd:string) AnnotationAssertion( "SPDRS"^^xsd:string) AnnotationAssertion( "infantile-onset symptomatic epilepsy syndrome"^^xsd:string) AnnotationAssertion( "salt & pepper syndrome"^^xsd:string) AnnotationAssertion( "salt and pepper mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060470"^^xsd:string) AnnotationAssertion(rdfs:label "salt and pepper syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fetal valproate syndrome) AnnotationAssertion(Annotation( "PMID:17090909"^^xsd:string) Annotation( "PMID:25400349"^^xsd:string) "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609442"^^xsd:string) AnnotationAssertion( "MESH:C536525"^^xsd:string) AnnotationAssertion( "NCI:C98930"^^xsd:string) AnnotationAssertion( "ORDO:1906"^^xsd:string) AnnotationAssertion( "Valproic Acid Antenatal Infection"^^xsd:string) AnnotationAssertion( "fetal effects from dalpro"^^xsd:string) AnnotationAssertion( "fetal effects from epival"^^xsd:string) AnnotationAssertion( "fetal valproic acid syndrome"^^xsd:string) AnnotationAssertion( "fetal valproic syndrome"^^xsd:string) AnnotationAssertion( "foetal valproate syndrome"^^xsd:string) AnnotationAssertion( "foetal valproic acid syndrome"^^xsd:string) AnnotationAssertion( "valproic acid embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060471"^^xsd:string) AnnotationAssertion(rdfs:label "fetal valproate syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kindler syndrome) AnnotationAssertion(Annotation( "PMID:12668616"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Kindler_syndrome"^^xsd:string) "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO)"^^xsd:string) AnnotationAssertion( "MIM:173650"^^xsd:string) AnnotationAssertion( "GARD:4391"^^xsd:string) AnnotationAssertion( "MESH:C536321"^^xsd:string) AnnotationAssertion( "ORDO:306539"^^xsd:string) AnnotationAssertion( "Bullous acrokeratotic poikiloderma of kindler and weary"^^xsd:string) AnnotationAssertion( "Congenital bullous poikiloderma"^^xsd:string) AnnotationAssertion( "FERMT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KNDLRS"^^xsd:string) AnnotationAssertion( "Kindler's syndrome"^^xsd:string) AnnotationAssertion( "Poikiloderma, congenital, with bullae, weary type"^^xsd:string) AnnotationAssertion( "Poikiloderma, hereditary acrokeratotic"^^xsd:string) AnnotationAssertion( "hereditary acrokeratotic poikiloderma of Kindler-Weary"^^xsd:string) AnnotationAssertion( "poikiloderma of Kindler"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060472"^^xsd:string) AnnotationAssertion(rdfs:label "Kindler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kabuki syndrome) AnnotationAssertion(Annotation( "PMID:25281733"^^xsd:string) Annotation( "PMID:25972376"^^xsd:string) Annotation( "PMID:26512256"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/kabuki-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Kabuki_syndrome"^^xsd:string) "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6810"^^xsd:string) AnnotationAssertion( "MESH:C537705"^^xsd:string) AnnotationAssertion( "MIM:PS147920"^^xsd:string) AnnotationAssertion( "MONDO:0016512"^^xsd:string) AnnotationAssertion( "NCI:C124837"^^xsd:string) AnnotationAssertion( "ORDO:2322"^^xsd:string) AnnotationAssertion( "KMS"^^xsd:string) AnnotationAssertion( "Kabuki make up syndrome"^^xsd:string) AnnotationAssertion( "Kabuki makeup syndrome"^^xsd:string) AnnotationAssertion( "Niikawa-Kuroki syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060473"^^xsd:string) AnnotationAssertion(rdfs:label "Kabuki syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 2) AnnotationAssertion(Annotation( "PMID:15725900"^^xsd:string) "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:263400"^^xsd:string) AnnotationAssertion( "MESH:C563918"^^xsd:string) AnnotationAssertion( "ORDO:238557"^^xsd:string) AnnotationAssertion( "Chuvash erythromatosis"^^xsd:string) AnnotationAssertion( "Chuvash polycythemia"^^xsd:string) AnnotationAssertion( "Chuvash type polycythemia"^^xsd:string) AnnotationAssertion( "ECYT2"^^xsd:string) AnnotationAssertion( "autosomal recessive benign erythrocytosis"^^xsd:string) AnnotationAssertion( "familial erythrocytosis 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "polycythemia, VHL-dependent"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060474"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myoclonic-atonic epilepsy) AnnotationAssertion(Annotation( "PMID:23708187"^^xsd:string) Annotation( "PMID:24207121"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK589173/"^^xsd:string) "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002731"^^xsd:string) AnnotationAssertion( "SLC6A1-related condition"^^xsd:string) AnnotationAssertion( "SLC6A1-related neurodevelopmental condition"^^xsd:string) AnnotationAssertion( "SLC6A1-related neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "MIM:616421"^^xsd:string) AnnotationAssertion( "MONDO:0014633"^^xsd:string) AnnotationAssertion( "NCI:C165674"^^xsd:string) AnnotationAssertion( "NCI:C172100"^^xsd:string) AnnotationAssertion( "EEOC"^^xsd:string) AnnotationAssertion( "ELS"^^xsd:string) AnnotationAssertion( "GENERALIZED MYOCLONIC-ATONIC SEIZURE"^^xsd:string) AnnotationAssertion( "IECEE"^^xsd:string) AnnotationAssertion( "MAE"^^xsd:string) AnnotationAssertion( "childhood onset epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "early life seizures"^^xsd:string) AnnotationAssertion( "early onset epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "infantile or early childhood epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "myoclonic-atonic seizure"^^xsd:string) AnnotationAssertion( "UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "infantile epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "infantile spasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060475"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic-atonic epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perlman syndrome) AnnotationAssertion(Annotation( "PMID:18780370"^^xsd:string) Annotation( "PMID:22306653"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Perlman_syndrome"^^xsd:string) "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:267000"^^xsd:string) AnnotationAssertion( "GARD:3936"^^xsd:string) AnnotationAssertion( "MESH:C536399"^^xsd:string) AnnotationAssertion( "NCI:C103144"^^xsd:string) AnnotationAssertion( "ORDO:2849"^^xsd:string) AnnotationAssertion( "DIS3L2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PRLMNS"^^xsd:string) AnnotationAssertion( "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor"^^xsd:string) AnnotationAssertion( "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor"^^xsd:string) AnnotationAssertion( "renal hamartomas, nephroblastomatosis, and fetal gigantism"^^xsd:string) AnnotationAssertion( "PREDISPOSITION TO WILMS TUMOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060476"^^xsd:string) AnnotationAssertion(rdfs:label "Perlman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Zika fever) AnnotationAssertion(Annotation( "http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/zika/en/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Zika_fever"^^xsd:string) Annotation( "https://www.cdc.gov/zika/about/"^^xsd:string) "A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A92.8"^^xsd:string) AnnotationAssertion( "MESH:D000071243"^^xsd:string) AnnotationAssertion( "Zika virus disease"^^xsd:string) AnnotationAssertion( "Zika virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060478"^^xsd:string) AnnotationAssertion(rdfs:label "Zika fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Shwachman-Diamond syndrome) AnnotationAssertion(Annotation( "PMID:18356737"^^xsd:string) Annotation( "PMID:22201042"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome"^^xsd:string) "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080023"^^xsd:string) AnnotationAssertion( "SBDS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4863"^^xsd:string) AnnotationAssertion( "MESH:D000081003"^^xsd:string) AnnotationAssertion( "MIM:260400"^^xsd:string) AnnotationAssertion( "MIM:PS260400"^^xsd:string) AnnotationAssertion( "MONDO:0009833"^^xsd:string) AnnotationAssertion( "NCI:C61235"^^xsd:string) AnnotationAssertion( "SDS"^^xsd:string) AnnotationAssertion( "SDS1"^^xsd:string) AnnotationAssertion( "Shwachman syndrome"^^xsd:string) AnnotationAssertion( "Shwachman-Bodian syndrome"^^xsd:string) AnnotationAssertion( "Shwachman-Bodian-Diamond syndrome"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond syndrome 1"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond type metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond-Oski syndrome"^^xsd:string) AnnotationAssertion( "congenital lipomatosis of pancreas"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia, Shwachman type"^^xsd:string) AnnotationAssertion( "pancreatic insufficiency and bone marrow dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060479"^^xsd:string) AnnotationAssertion(rdfs:label "Shwachman-Diamond syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (left ventricular noncompaction) AnnotationAssertion(Annotation( "PMID:16567565"^^xsd:string) "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002632"^^xsd:string) AnnotationAssertion( "EFO:0004686"^^xsd:string) AnnotationAssertion( "GARD:10985"^^xsd:string) AnnotationAssertion( "HP:0011664"^^xsd:string) AnnotationAssertion( "MIM:PS604169"^^xsd:string) AnnotationAssertion( "MONDO:0018901"^^xsd:string) AnnotationAssertion( "ORDO:54260"^^xsd:string) AnnotationAssertion( "LVNC"^^xsd:string) AnnotationAssertion( "left ventricular hypertrabeculation"^^xsd:string) AnnotationAssertion( "ncCM"^^xsd:string) AnnotationAssertion( "non-compaction cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060480"^^xsd:string) AnnotationAssertion(rdfs:label "left ventricular noncompaction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Goldberg-Shprintzen syndrome) AnnotationAssertion(Annotation( "PMID:15883926"^^xsd:string) Annotation( "PMID:23427148"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome"^^xsd:string) "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609460"^^xsd:string) AnnotationAssertion( "GARD:9849"^^xsd:string) AnnotationAssertion( "MESH:C537279"^^xsd:string) AnnotationAssertion( "ORDO:66629"^^xsd:string) AnnotationAssertion( "GOSHS"^^xsd:string) AnnotationAssertion( "Goldberg-Shprintzen megacolon syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060481"^^xsd:string) AnnotationAssertion(rdfs:label "Goldberg-Shprintzen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculoauricular syndrome) AnnotationAssertion(Annotation( "PMID:18423520"^^xsd:string) Annotation( "PMID:25574057"^^xsd:string) "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612109"^^xsd:string) AnnotationAssertion( "MESH:C567416"^^xsd:string) AnnotationAssertion( "ORDO:157962"^^xsd:string) AnnotationAssertion( "HMX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OCACS"^^xsd:string) AnnotationAssertion( "SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME"^^xsd:string) AnnotationAssertion( "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060482"^^xsd:string) AnnotationAssertion(rdfs:label "oculoauricular syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MEDNIK syndrome) AnnotationAssertion(Annotation( "PMID:23423674"^^xsd:string) Annotation( "PMID:24754424"^^xsd:string) "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609313"^^xsd:string) AnnotationAssertion( "MESH:C563739"^^xsd:string) AnnotationAssertion( "ORDO:171851"^^xsd:string) AnnotationAssertion( "AP1S1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EKV3"^^xsd:string) AnnotationAssertion( "MEDNIK"^^xsd:string) AnnotationAssertion( "erythrokeratodermia variabilis 3"^^xsd:string) AnnotationAssertion( "erythrokeratodermia variabilis, Kamouraska type"^^xsd:string) AnnotationAssertion( "impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma"^^xsd:string) AnnotationAssertion( "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"^^xsd:string) AnnotationAssertion( "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060483"^^xsd:string) AnnotationAssertion(rdfs:label "MEDNIK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (EAST syndrome) AnnotationAssertion(Annotation( "PMID:19289823"^^xsd:string) Annotation( "PMID:19420365"^^xsd:string) Annotation( "PMID:23471908"^^xsd:string) "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612780"^^xsd:string) AnnotationAssertion( "OMIA:002089"^^xsd:string) AnnotationAssertion( "KCNJ10-related disorder"^^xsd:string) AnnotationAssertion( "KCNJ10-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C557674"^^xsd:string) AnnotationAssertion( "ORDO:199343"^^xsd:string) AnnotationAssertion( "SESAMES"^^xsd:string) AnnotationAssertion( "SeSAME syndrome"^^xsd:string) AnnotationAssertion( "epilepsy, ataxia, sensorineural deafness and tubulopathy"^^xsd:string) AnnotationAssertion( "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome"^^xsd:string) AnnotationAssertion( "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, KCNJ10-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SESAME-LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:0060484"^^xsd:string) AnnotationAssertion(rdfs:label "EAST syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mowat-Wilson syndrome) AnnotationAssertion(Annotation( "PMID:17958891"^^xsd:string) Annotation( "PMID:23466526"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome"^^xsd:string) "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235730"^^xsd:string) AnnotationAssertion( "GARD:9673"^^xsd:string) AnnotationAssertion( "MESH:C536990"^^xsd:string) AnnotationAssertion( "NCI:C74999"^^xsd:string) AnnotationAssertion( "ORDO:2152"^^xsd:string) AnnotationAssertion( "Hirschsprung disease mental retardation syndrome"^^xsd:string) AnnotationAssertion( "MOWS"^^xsd:string) AnnotationAssertion( "ZEB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease"^^xsd:string) AnnotationAssertion( "microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease"^^xsd:string) AnnotationAssertion( "Hirschsprung disease-mental retardation syndrome, late infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060485"^^xsd:string) AnnotationAssertion(rdfs:label "Mowat-Wilson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perry syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK47027/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/perry-syndrome"^^xsd:string) "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:168605"^^xsd:string) AnnotationAssertion( "GARD:10453"^^xsd:string) AnnotationAssertion( "MESH:C566822"^^xsd:string) AnnotationAssertion( "ORDO:178509"^^xsd:string) AnnotationAssertion( "parkinsonism with alveolar hypoventilation and mental depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060486"^^xsd:string) AnnotationAssertion(rdfs:label "Perry syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pitt-Hopkins syndrome) AnnotationAssertion(Annotation( "PMID:17436255"^^xsd:string) Annotation( "PMID:26621827"^^xsd:string) Annotation( "PMID:728011"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome"^^xsd:string) "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "TCF4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4372"^^xsd:string) AnnotationAssertion( "MESH:C537403"^^xsd:string) AnnotationAssertion( "MIM:610954"^^xsd:string) AnnotationAssertion( "MONDO:0012589"^^xsd:string) AnnotationAssertion( "NCI:C129872"^^xsd:string) AnnotationAssertion( "ORDO:2896"^^xsd:string) AnnotationAssertion( "PTHS"^^xsd:string) AnnotationAssertion( "severe epileptic encephalopathy, with autonomic dysfunction"^^xsd:string) AnnotationAssertion( "syndromal mental retardation, with intermittent hyperventilation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Pitt-Hopkins-like syndrome"^^xsd:string) AnnotationAssertion( "DOID:0060488"^^xsd:string) AnnotationAssertion(rdfs:label "Pitt-Hopkins syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Schimke immuno-osseous dysplasia) AnnotationAssertion(Annotation( "PMID:10653321"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1376/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242900"^^xsd:string) AnnotationAssertion( "GARD:4984"^^xsd:string) AnnotationAssertion( "MESH:C536629"^^xsd:string) AnnotationAssertion( "NCI:C135087"^^xsd:string) AnnotationAssertion( "ORDO:1830"^^xsd:string) AnnotationAssertion( "SIOD"^^xsd:string) AnnotationAssertion( "Schimke immunoosseous dysplasia"^^xsd:string) AnnotationAssertion( "Schimke syndrome"^^xsd:string) AnnotationAssertion( "immunoosseous dysplasia Schimke type"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia - nephrotic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060490"^^xsd:string) AnnotationAssertion(rdfs:label "Schimke immuno-osseous dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (SPOAN syndrome) AnnotationAssertion(Annotation( "PMID:15852396"^^xsd:string) Annotation( "PMID:26385635"^^xsd:string) "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609541"^^xsd:string) AnnotationAssertion( "RDO:0012893"^^xsd:string) AnnotationAssertion( "MESH:C563702"^^xsd:string) AnnotationAssertion( "ORDO:320406"^^xsd:string) AnnotationAssertion( "KLC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atrophy, and neuropathy"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atrophy, and neuropathy syndrome"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atropy, and neuropathy"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atropy, and neuropathy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060491"^^xsd:string) AnnotationAssertion(rdfs:label "SPOAN syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chicken egg allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Egg_allergy"^^xsd:string) "An egg allergy triggered by Gallus gallus eggs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003473"^^xsd:string) AnnotationAssertion( "Gallus gallus egg allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060492"^^xsd:string) AnnotationAssertion(rdfs:label "chicken egg allergy"^^xsd:string) SubClassOf( ) # Class: (shellfish allergy) AnnotationAssertion(Annotation( "PMID:28027402"^^xsd:string) Annotation( "PMID:29858102"^^xsd:string) Annotation( "PMID:30893087"^^xsd:string) "A food allergy triggered by Crustacea or Mollusca. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000067208"^^xsd:string) AnnotationAssertion( "shellfish allergies"^^xsd:string) AnnotationAssertion( "shellfish hypersensitivities"^^xsd:string) AnnotationAssertion( "shellfish hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060495"^^xsd:string) AnnotationAssertion(rdfs:label "shellfish allergy"^^xsd:string) SubClassOf( ) # Class: (respiratory allergy) AnnotationAssertion(Annotation( "PMID:25006500"^^xsd:string) Annotation( "PMID:28187789"^^xsd:string) "An allergic disease that is located_in the respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012130"^^xsd:string) AnnotationAssertion( "airway allergy"^^xsd:string) AnnotationAssertion( "airway hyper responsiveness"^^xsd:string) AnnotationAssertion( "respiratory hypersensitivities"^^xsd:string) AnnotationAssertion( "respiratory hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "allergic lung disease"^^xsd:string) AnnotationAssertion( "DOID:0060496"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pollen allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types-allergies/pollen-allergy"^^xsd:string) Annotation( "https://www.aafa.org/pollen-allergy/"^^xsd:string) "A respiratory allergy triggered by pollen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "pollen allergies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060497"^^xsd:string) AnnotationAssertion(rdfs:label "pollen allergy"^^xsd:string) SubClassOf( ) # Class: (Timothy grass allergy) AnnotationAssertion(Annotation( "PMID:25685162"^^xsd:string) "A pollen allergy triggered by Phleum pratense pollen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060498"^^xsd:string) AnnotationAssertion(rdfs:label "Timothy grass allergy"^^xsd:string) SubClassOf( ) # Class: (autoimmune neuropathy) AnnotationAssertion(Annotation( "PMID:28601415"^^xsd:string) Annotation( "https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders"^^xsd:string) "An autoimmune disease of central nervous system caused by an autoimmune response. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002713"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060499"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune neuropathy"^^xsd:string) SubClassOf( ) # Class: (drug allergy) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835"^^xsd:string) "An allergic disease that is triggered by a drug. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009482"^^xsd:string) AnnotationAssertion( "MESH:D004342"^^xsd:string) AnnotationAssertion( "Drug Allergies"^^xsd:string) AnnotationAssertion( "Drug Hypersensitivities"^^xsd:string) AnnotationAssertion( "Drug Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060500"^^xsd:string) AnnotationAssertion(rdfs:label "drug allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (metal allergy) AnnotationAssertion(Annotation( "PMID:27228132"^^xsd:string) "An allergic disease that is triggered by a metal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060501"^^xsd:string) AnnotationAssertion(rdfs:label "metal allergy"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal allergy) AnnotationAssertion(Annotation( "PMID:18721321"^^xsd:string) "An allergic disease that is located_in the gastrointestinal tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060502"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal allergy"^^xsd:string) SubClassOf( ) # Class: (fruit allergy) AnnotationAssertion(Annotation( "PMID:26022876"^^xsd:string) Annotation( "PMID:26549334"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Fruit_allergy"^^xsd:string) "A food allergy triggered by a plant fruit product. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060503"^^xsd:string) AnnotationAssertion(rdfs:label "fruit allergy"^^xsd:string) SubClassOf( ) # Class: (apple allergy) AnnotationAssertion(Annotation( "PMID:26549334"^^xsd:string) Annotation( "PMID:29130794"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2"^^xsd:string) "A fruit allergy triggered by Malus domestica plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Malus domestica fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060504"^^xsd:string) AnnotationAssertion(rdfs:label "apple allergy"^^xsd:string) SubClassOf( ) # Class: (apricot allergy) AnnotationAssertion(Annotation( "PMID:30611476"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410"^^xsd:string) "A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus armeniaca fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060505"^^xsd:string) AnnotationAssertion(rdfs:label "apricot allergy"^^xsd:string) SubClassOf( ) # Class: (cherry allergy) AnnotationAssertion(Annotation( "PMID:26549334"^^xsd:string) Annotation( "PMID:30093847"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19"^^xsd:string) "A fruit allergy triggered by Prunus avium plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus avium fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060506"^^xsd:string) AnnotationAssertion(rdfs:label "cherry allergy"^^xsd:string) SubClassOf( ) # Class: (Indian plum allergy) AnnotationAssertion(Annotation( "PMID:14976388"^^xsd:string) Annotation( "PMID:24696647"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Fruit_allergy"^^xsd:string) "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Ziziphus mauritiana fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060507"^^xsd:string) AnnotationAssertion(rdfs:label "Indian plum allergy"^^xsd:string) SubClassOf( ) # Class: (orange allergy) AnnotationAssertion(Annotation( "PMID:26549334"^^xsd:string) Annotation( "PMID:30099793"^^xsd:string) "A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Citrus sinensis fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060508"^^xsd:string) AnnotationAssertion(rdfs:label "orange allergy"^^xsd:string) SubClassOf( ) # Class: (melon allergy) AnnotationAssertion(Annotation( "PMID:26549334"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67"^^xsd:string) "A fruit allergy triggered by Cucumis melo plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Cucumis melo fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060509"^^xsd:string) AnnotationAssertion(rdfs:label "melon allergy"^^xsd:string) SubClassOf( ) # Class: (peach allergy) AnnotationAssertion(Annotation( "PMID:30672059"^^xsd:string) "A fruit allergy triggered by Prunus persica plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus persica fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060510"^^xsd:string) AnnotationAssertion(rdfs:label "peach allergy"^^xsd:string) SubClassOf( ) # Class: (plum allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27"^^xsd:string) "A fruit allergy triggered by Prunus domestica plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus domestica fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060511"^^xsd:string) AnnotationAssertion(rdfs:label "plum allergy"^^xsd:string) SubClassOf( ) # Class: (tomato allergy) AnnotationAssertion(Annotation( "PMID:12001794"^^xsd:string) Annotation( "PMID:23653972"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52"^^xsd:string) "A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "Solanum lycopersicum fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060512"^^xsd:string) AnnotationAssertion(rdfs:label "tomato allergy"^^xsd:string) SubClassOf( ) # Class: (fish allergy) AnnotationAssertion(Annotation( "PMID:24795722"^^xsd:string) Annotation( "PMID:30323632"^^xsd:string) Annotation( "https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy"^^xsd:string) "A food allergy triggered by fish. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060513"^^xsd:string) AnnotationAssertion(rdfs:label "fish allergy"^^xsd:string) SubClassOf( ) # Class: (Atlantic cod allergy) AnnotationAssertion(Annotation( "PMID:24795722"^^xsd:string) Annotation( "PMID:30323632"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005"^^xsd:string) "A fish allergy triggered by Gadus morhua. (DO)"^^xsd:string) AnnotationAssertion( "Gadus morhua fish allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060514"^^xsd:string) AnnotationAssertion(rdfs:label "Atlantic cod allergy"^^xsd:string) SubClassOf( ) # Class: (Atlantic salmon allergy) AnnotationAssertion(Annotation( "PMID:24795722"^^xsd:string) Annotation( "PMID:30323632"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022"^^xsd:string) "A fish allergy triggered by Salmo salar. (DO)"^^xsd:string) AnnotationAssertion( "Salmo salar fish allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060515"^^xsd:string) AnnotationAssertion(rdfs:label "Atlantic salmon allergy"^^xsd:string) SubClassOf( ) # Class: (carp allergy) AnnotationAssertion(Annotation( "PMID:24795722"^^xsd:string) Annotation( "PMID:30323632"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018"^^xsd:string) "A fish allergy triggered by Cyprinus carpio. (DO)"^^xsd:string) AnnotationAssertion( "Cyprinus carpio fish allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060516"^^xsd:string) AnnotationAssertion(rdfs:label "carp allergy"^^xsd:string) SubClassOf( ) # Class: (zebrafish allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy"^^xsd:string) "A fish allergy triggered by Danio rerio. (DO)"^^xsd:string) AnnotationAssertion( "Danio rerio allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060517"^^xsd:string) AnnotationAssertion(rdfs:label "zebrafish allergy"^^xsd:string) SubClassOf( ) # Class: (rainbow trout allergy) AnnotationAssertion(Annotation( "PMID:24795722"^^xsd:string) Annotation( "PMID:26111497"^^xsd:string) Annotation( "PMID:30323632"^^xsd:string) "A fish allergy triggered by Oncorhynchus mykiss. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "Oncorhynchus mykiss allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060518"^^xsd:string) AnnotationAssertion(rdfs:label "rainbow trout allergy"^^xsd:string) SubClassOf( ) # Class: (beta-lactam allergy) AnnotationAssertion(Annotation( "PMID:31009700"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity"^^xsd:string) Annotation( "https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy"^^xsd:string) "A drug allergy triggered by a beta-lactam. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003962"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060519"^^xsd:string) AnnotationAssertion(rdfs:label "beta-lactam allergy"^^xsd:string) SubClassOf( ) # Class: (penicillin allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222"^^xsd:string) "A beta-lactam allergy triggered by penicillin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060520"^^xsd:string) AnnotationAssertion(rdfs:label "penicillin allergy"^^xsd:string) SubClassOf( ) # Class: (cow milk allergy) AnnotationAssertion(Annotation( "PMID:31083388"^^xsd:string) "A milk allergy triggered by Bos taurus milk. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "Bos taurus milk allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060521"^^xsd:string) AnnotationAssertion(rdfs:label "cow milk allergy"^^xsd:string) SubClassOf( ) # Class: (goat milk allergy) AnnotationAssertion(Annotation( "PMID:17002714"^^xsd:string) Annotation( "PMID:24372684"^^xsd:string) "A milk allergy triggered by Capra hircus milk. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "Capra hircus milk allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060522"^^xsd:string) AnnotationAssertion(rdfs:label "goat milk allergy"^^xsd:string) SubClassOf( ) # Class: (mollusc allergy) AnnotationAssertion(Annotation( "PMID:28027402"^^xsd:string) Annotation( "PMID:29858102"^^xsd:string) Annotation( "PMID:30893087"^^xsd:string) "A shellfish allergy triggered by Mollusca. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060523"^^xsd:string) AnnotationAssertion(rdfs:label "mollusc allergy"^^xsd:string) SubClassOf( ) # Class: (crustacean allergy) AnnotationAssertion(Annotation( "PMID:28027402"^^xsd:string) Annotation( "PMID:29858102"^^xsd:string) Annotation( "PMID:30893087"^^xsd:string) "A shellfish allergy triggered by Crustacea. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060524"^^xsd:string) AnnotationAssertion(rdfs:label "crustacean allergy"^^xsd:string) SubClassOf( ) # Class: (brown shrimp allergy) AnnotationAssertion(Annotation( "PMID:28027402"^^xsd:string) Annotation( "PMID:29858102"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027"^^xsd:string) "A crustacean allergy triggered by Farfantepenaeus aztecus. (DO)"^^xsd:string) AnnotationAssertion( "Farfantepenaeus aztecus allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060525"^^xsd:string) AnnotationAssertion(rdfs:label "brown shrimp allergy"^^xsd:string) SubClassOf( ) # Class: (crab allergy) AnnotationAssertion(Annotation( "PMID:25728640"^^xsd:string) Annotation( "PMID:29858102"^^xsd:string) "A crustacean allergy triggered by Scylla paramamosain. (DO)"^^xsd:string) AnnotationAssertion( "Scylla paramamosain allergy"^^xsd:string) AnnotationAssertion( "green mud crab allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060526"^^xsd:string) AnnotationAssertion(rdfs:label "crab allergy"^^xsd:string) SubClassOf( ) # Class: (Indian prawn allergy) AnnotationAssertion(Annotation( "PMID:29858102"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029"^^xsd:string) "A crustacean allergy triggered by Fenneropenaeus indicus. (DO)"^^xsd:string) AnnotationAssertion( "Fenneropenaeus indicus allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060527"^^xsd:string) AnnotationAssertion(rdfs:label "Indian prawn allergy"^^xsd:string) SubClassOf( ) # Class: (tiger prawn allergy) AnnotationAssertion(Annotation( "PMID:22135598"^^xsd:string) Annotation( "PMID:29178679"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028"^^xsd:string) "A crustacean allergy triggered by Penaeus monodon. (DO)"^^xsd:string) AnnotationAssertion( "Penaeus monodon allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060528"^^xsd:string) AnnotationAssertion(rdfs:label "tiger prawn allergy"^^xsd:string) SubClassOf( ) # Class: (white shrimp allergy) AnnotationAssertion(Annotation( "PMID:20471069"^^xsd:string) Annotation( "PMID:28027402"^^xsd:string) Annotation( "PMID:29858102"^^xsd:string) "A crustacean allergy triggered by Litopenaeus vannamei. (DO)"^^xsd:string) AnnotationAssertion( "Litopenaeus vannamei allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060529"^^xsd:string) AnnotationAssertion(rdfs:label "white shrimp allergy"^^xsd:string) SubClassOf( ) # Class: (snail allergy) AnnotationAssertion(Annotation( "PMID:15591808"^^xsd:string) Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010"^^xsd:string) "A mollusc allergy triggered by snails. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060530"^^xsd:string) AnnotationAssertion(rdfs:label "snail allergy"^^xsd:string) SubClassOf( ) # Class: (horned turban snail allergy) AnnotationAssertion(Annotation( "https://farrp.unl.edu/informallmollshellfish"^^xsd:string) "A snail allergy triggered by the horned turban snail. (DO)"^^xsd:string) AnnotationAssertion( "Turbo cornutus allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060531"^^xsd:string) AnnotationAssertion(rdfs:label "horned turban snail allergy"^^xsd:string) SubClassOf( ) # Class: (latex allergy) AnnotationAssertion(Annotation( "PMID:27010091"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Latex_allergy"^^xsd:string) "An allergic disease that is triggered by latex. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020315"^^xsd:string) AnnotationAssertion( "Latex Hypersensitivities"^^xsd:string) AnnotationAssertion( "Latex Hypersensitivity"^^xsd:string) AnnotationAssertion( "Natural Rubber Latex Allergy"^^xsd:string) AnnotationAssertion( "Rubber Allergies"^^xsd:string) AnnotationAssertion( "Rubber Allergy"^^xsd:string) AnnotationAssertion( "Rubber Latex Allergies"^^xsd:string) AnnotationAssertion( "latex allergies"^^xsd:string) AnnotationAssertion( "rubber latex allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060532"^^xsd:string) AnnotationAssertion(rdfs:label "latex allergy"^^xsd:string) SubClassOf( ) # Class: (hepatoid adenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000293"^^xsd:string) AnnotationAssertion( "ICDO:8576/3"^^xsd:string) AnnotationAssertion( "NCI:C66950"^^xsd:string) AnnotationAssertion( "RDO:9001983"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060534"^^xsd:string) AnnotationAssertion(rdfs:label "hepatoid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Warsaw breakage syndrome) AnnotationAssertion(Annotation( "PMID:20137776"^^xsd:string) Annotation( "PMID:21490908"^^xsd:string) Annotation( "PMID:23033317"^^xsd:string) Annotation( "PMID:26089203"^^xsd:string) Annotation( "PMID:31169992"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome"^^xsd:string) "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13708"^^xsd:string) AnnotationAssertion( "MIM:613398"^^xsd:string) AnnotationAssertion( "NCI:C164675"^^xsd:string) AnnotationAssertion( "ORDO:280558"^^xsd:string) AnnotationAssertion( "WABS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060535"^^xsd:string) AnnotationAssertion(rdfs:label "Warsaw breakage syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex I deficiency) AnnotationAssertion(Annotation( "http://www.omim.org/entry/252010"^^xsd:string) "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3908"^^xsd:string) AnnotationAssertion( "MESH:C537475"^^xsd:string) AnnotationAssertion( "ORDO:2609"^^xsd:string) AnnotationAssertion( "NADH-coenzyme Q reductase deficiency"^^xsd:string) AnnotationAssertion( "NADH:Q(1) oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "deficiency of mitochondrial NADH dehydrogenase component of complex I"^^xsd:string) AnnotationAssertion( "isolated NADH-CoQ reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated NADH-coenzyme Q reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated NADH-ubiquinone reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated mitochondrial respiratory chain complex I deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial oxidative phosphorylation disorder"^^xsd:string) AnnotationAssertion( "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT"^^xsd:string) AnnotationAssertion( "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060536"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex I deficiency"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex II deficiency) AnnotationAssertion(Annotation( "PMID:23322652"^^xsd:string) "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5053"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.3"^^xsd:string) AnnotationAssertion( "MESH:C565375"^^xsd:string) AnnotationAssertion( "MIM:PS252011"^^xsd:string) AnnotationAssertion( "ORDO:3208"^^xsd:string) AnnotationAssertion( "isolated mitochondrial respiratory chain complex II deficiency"^^xsd:string) AnnotationAssertion( "isolated succinate-CoQ reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated succinate-coenzyme Q reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated succinate-ubiquinone reductase deficiency"^^xsd:string) AnnotationAssertion( "succinate CoQ reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060537"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex II deficiency"^^xsd:string) SubClassOf( ) # Class: (purpura fulminans) AnnotationAssertion(Annotation( "ORDO:49566"^^xsd:string) Annotation( "PMID:26955583"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Purpura_fulminans"^^xsd:string) "A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001913"^^xsd:string) AnnotationAssertion( "ICD10CM:D65"^^xsd:string) AnnotationAssertion( "MESH:D055665"^^xsd:string) AnnotationAssertion( "ORDO:49566"^^xsd:string) AnnotationAssertion( "purpura gangrenosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060538"^^xsd:string) AnnotationAssertion(rdfs:label "purpura fulminans"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 1) AnnotationAssertion(Annotation( "MIM:203300"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203300"^^xsd:string) AnnotationAssertion( "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS"^^xsd:string) AnnotationAssertion( "MESH:C538539"^^xsd:string) AnnotationAssertion( "NCI:C150367"^^xsd:string) AnnotationAssertion( "HPS1"^^xsd:string) AnnotationAssertion( "HPS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells"^^xsd:string) AnnotationAssertion( "delta storage pool disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060539"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 2) AnnotationAssertion(Annotation( "MIM:608233"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608233"^^xsd:string) AnnotationAssertion( "MESH:C537709"^^xsd:string) AnnotationAssertion( "NCI:C150368"^^xsd:string) AnnotationAssertion( "ORDO:183678"^^xsd:string) AnnotationAssertion( "HPS2"^^xsd:string) AnnotationAssertion( "Hermansky-Pudlak syndrome with neutropenia"^^xsd:string) AnnotationAssertion( "Platelet defects and oculocutaneous albinism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060540"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 3) AnnotationAssertion(Annotation( "MIM:614072"^^xsd:string) "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614072"^^xsd:string) AnnotationAssertion( "HPS3"^^xsd:string) AnnotationAssertion( "HPS3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060541"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 4) AnnotationAssertion(Annotation( "MIM:614073"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)"^^xsd:string) AnnotationAssertion( "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS"^^xsd:string) AnnotationAssertion( "MIM:614073"^^xsd:string) AnnotationAssertion( "HPS4"^^xsd:string) AnnotationAssertion( "HPS4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060542"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 5) AnnotationAssertion(Annotation( "MIM:614074"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614074"^^xsd:string) AnnotationAssertion( "HPS5"^^xsd:string) AnnotationAssertion( "HPS5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060543"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 6) AnnotationAssertion(Annotation( "MIM:614075"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614075"^^xsd:string) AnnotationAssertion( "NCI:C150369"^^xsd:string) AnnotationAssertion( "HPS6"^^xsd:string) AnnotationAssertion( "HPS6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060544"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 7) AnnotationAssertion(Annotation( "MIM:614076"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614076"^^xsd:string) AnnotationAssertion( "DTNBP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060545"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 8) AnnotationAssertion(Annotation( "MIM:614077"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614077"^^xsd:string) AnnotationAssertion( "BLOC1S3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060546"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 9) AnnotationAssertion(Annotation( "MIM:614171"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614171"^^xsd:string) AnnotationAssertion( "MONDO:0013606"^^xsd:string) AnnotationAssertion( "BLOC1S6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060547"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 9"^^xsd:string) SubClassOf( ) # Class: (luminal breast carcinoma A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/"^^xsd:string) "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "breast tumor luminal"^^xsd:string) AnnotationAssertion( "luminal breast cancer"^^xsd:string) AnnotationAssertion( "EFO:0000306"^^xsd:string) AnnotationAssertion( "NCI:C53554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060548"^^xsd:string) AnnotationAssertion(rdfs:label "luminal breast carcinoma A"^^xsd:string) SubClassOf( ) # Class: (Barber-Say syndrome) AnnotationAssertion(Annotation( "PMID:27196381"^^xsd:string) "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "GARD:819"^^xsd:string) AnnotationAssertion( "MESH:C537908"^^xsd:string) AnnotationAssertion( "MIM:209885"^^xsd:string) AnnotationAssertion( "MONDO:0008853"^^xsd:string) AnnotationAssertion( "ORDO:1231"^^xsd:string) AnnotationAssertion( "BBRSAY"^^xsd:string) AnnotationAssertion( "BSS"^^xsd:string) AnnotationAssertion( "hypertrichosis, atrophic skin, ectropion, and macrostomia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060549"^^xsd:string) AnnotationAssertion(rdfs:label "Barber-Say syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ablepharon macrostomia syndrome) AnnotationAssertion(Annotation( "PMID:27196381"^^xsd:string) Annotation( "http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome"^^xsd:string) "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200110"^^xsd:string) AnnotationAssertion( "GARD:3"^^xsd:string) AnnotationAssertion( "MESH:C535557"^^xsd:string) AnnotationAssertion( "ORDO:920"^^xsd:string) AnnotationAssertion( "AMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060550"^^xsd:string) AnnotationAssertion(rdfs:label "ablepharon macrostomia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (poikiloderma with neutropenia) AnnotationAssertion(Annotation( "PMID:20734427"^^xsd:string) "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538345"^^xsd:string) AnnotationAssertion( "MIM:604173"^^xsd:string) AnnotationAssertion( "GARD:4085"^^xsd:string) AnnotationAssertion( "MESH:C565820"^^xsd:string) AnnotationAssertion( "NCI:C177535"^^xsd:string) AnnotationAssertion( "ORDO:221046"^^xsd:string) AnnotationAssertion( "Navajo Poikiloderma"^^xsd:string) AnnotationAssertion( "Navajo immune deficient poikiloderma"^^xsd:string) AnnotationAssertion( "PN"^^xsd:string) AnnotationAssertion( "USB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "poikiloderma with neutropenia, Clericuzio-type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060551"^^xsd:string) AnnotationAssertion(rdfs:label "poikiloderma with neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kufor-Rakeb syndrome) AnnotationAssertion(Annotation( "PMID:15986421"^^xsd:string) Annotation( "PMID:23791710"^^xsd:string) "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606693"^^xsd:string) AnnotationAssertion( "ATP13A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537177"^^xsd:string) AnnotationAssertion( "NCI:C203534"^^xsd:string) AnnotationAssertion( "ORDO:306674"^^xsd:string) AnnotationAssertion( "KRPPD"^^xsd:string) AnnotationAssertion( "KRS"^^xsd:string) AnnotationAssertion( "PARK9"^^xsd:string) AnnotationAssertion( "Parkinson disease 9"^^xsd:string) AnnotationAssertion( "Parkinson's disease 9"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease 9"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease 9, juvenile onset"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson's disease 9, juvenile-onset"^^xsd:string) AnnotationAssertion( "pallidopyramidal degeneration with supranuclear upgaze paresis and dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060556"^^xsd:string) AnnotationAssertion(rdfs:label "Kufor-Rakeb syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ataxia with oculomotor apraxia type 3) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615217"^^xsd:string) AnnotationAssertion( "AOA3"^^xsd:string) AnnotationAssertion( "PIK3R5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060557"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia with oculomotor apraxia type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome) AnnotationAssertion(Annotation( "PMID:22610851"^^xsd:string) "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12643"^^xsd:string) AnnotationAssertion( "ICD10CM:Q68.8"^^xsd:string) AnnotationAssertion( "MIM:PS253310"^^xsd:string) AnnotationAssertion( "ORDO:294965"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060558"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome 1) AnnotationAssertion(Annotation( "PMID:9683599"^^xsd:string) "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "GLE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GLE1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:3227"^^xsd:string) AnnotationAssertion( "MESH:C537194"^^xsd:string) AnnotationAssertion( "MIM:253310"^^xsd:string) AnnotationAssertion( "MONDO:0009670"^^xsd:string) AnnotationAssertion( "ORDO:1486"^^xsd:string) AnnotationAssertion( "LCCS"^^xsd:string) AnnotationAssertion( "LCCS1"^^xsd:string) AnnotationAssertion( "LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE"^^xsd:string) AnnotationAssertion( "lethal autosomal recessive syndrome of multiple congenital contractures"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Finnish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060559"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 1"^^xsd:string) SubClassOf( ) # Class: (lethal congenital contracture syndrome 2) AnnotationAssertion(Annotation( "PMID:15378541"^^xsd:string) Annotation( "PMID:17701904"^^xsd:string) "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9177"^^xsd:string) AnnotationAssertion( "MESH:C564369"^^xsd:string) AnnotationAssertion( "MIM:607598"^^xsd:string) AnnotationAssertion( "MONDO:0011868"^^xsd:string) AnnotationAssertion( "ORDO:137776"^^xsd:string) AnnotationAssertion( "LCCS2"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Israeli Bedouin type A"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Israeli-Bedouin type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060560"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (anomalous left coronary artery from the pulmonary artery) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery"^^xsd:string) "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000080038"^^xsd:string) AnnotationAssertion( "MESH:D063748"^^xsd:string) AnnotationAssertion( "ALCAPA"^^xsd:string) AnnotationAssertion( "ALCAPA syndrome"^^xsd:string) AnnotationAssertion( "ALCAPA syndromes"^^xsd:string) AnnotationAssertion( "Bland White Garland syndrome"^^xsd:string) AnnotationAssertion( "White-Garland syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060562"^^xsd:string) AnnotationAssertion(rdfs:label "anomalous left coronary artery from the pulmonary artery"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Char syndrome) AnnotationAssertion(Annotation( "PMID:10368122"^^xsd:string) "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169100"^^xsd:string) AnnotationAssertion( "TFAP2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:1237"^^xsd:string) AnnotationAssertion( "MESH:C566815"^^xsd:string) AnnotationAssertion( "CHAR"^^xsd:string) AnnotationAssertion( "Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060563"^^xsd:string) AnnotationAssertion(rdfs:label "Char syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinal disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Spinal_disease"^^xsd:string) "A bone disease that is located_in the spine. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013122"^^xsd:string) AnnotationAssertion( "spinal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060564"^^xsd:string) AnnotationAssertion(rdfs:label "spinal disease"^^xsd:string) SubClassOf( ) # Class: (Ritscher-Schinzel syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/3C_syndrome"^^xsd:string) "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535313"^^xsd:string) AnnotationAssertion( "MIM:PS220210"^^xsd:string) AnnotationAssertion( "ORDO:7"^^xsd:string) AnnotationAssertion( "3C syndrome"^^xsd:string) AnnotationAssertion( "CCC dysplasia"^^xsd:string) AnnotationAssertion( "Craniocerebellocardiac dysplasia"^^xsd:string) AnnotationAssertion( "Dandy-Walker-like malformation with atrioventricular septal defect"^^xsd:string) AnnotationAssertion( "RTSC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060565"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Holzgreve-Wagner-Rehder syndrome) AnnotationAssertion(Annotation( "PMID:3232694"^^xsd:string) "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236110"^^xsd:string) AnnotationAssertion( "RDO:0000383"^^xsd:string) AnnotationAssertion( "MESH:C535327"^^xsd:string) AnnotationAssertion( "ORDO:2167"^^xsd:string) AnnotationAssertion( "Complex congenital heart defect, renal agenesis, and cleft lip and palate"^^xsd:string) AnnotationAssertion( "Holzgreve syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060566"^^xsd:string) AnnotationAssertion(rdfs:label "Holzgreve-Wagner-Rehder syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (erythema elevatum diutinum) AnnotationAssertion(Annotation( "http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html"^^xsd:string) "A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8653"^^xsd:string) AnnotationAssertion( "ICD10CM:L95.1"^^xsd:string) AnnotationAssertion( "MESH:C535509"^^xsd:string) AnnotationAssertion( "MONDO:0019526"^^xsd:string) AnnotationAssertion( "ORDO:90000"^^xsd:string) AnnotationAssertion( "extracellular cholesterosis"^^xsd:string) AnnotationAssertion( "leukocytoclastic vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060567"^^xsd:string) AnnotationAssertion(rdfs:label "erythema elevatum diutinum"^^xsd:string) SubClassOf( ) # Class: (hypertrichotic osteochondrodysplasia Cantu type) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/cantu-syndrome"^^xsd:string) "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:239850"^^xsd:string) AnnotationAssertion( "GARD:8585"^^xsd:string) AnnotationAssertion( "MESH:C535572"^^xsd:string) AnnotationAssertion( "RDO:0000771"^^xsd:string) AnnotationAssertion( "Cantu syndrome"^^xsd:string) AnnotationAssertion( "Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome"^^xsd:string) AnnotationAssertion( "Hypertrichotic osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060569"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrichotic osteochondrodysplasia Cantu type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cardiac tuberculosis) AnnotationAssertion(Annotation( "PMID:28814447"^^xsd:string) "A tuberculosis located in the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001442"^^xsd:string) AnnotationAssertion( "MESH:D014381"^^xsd:string) AnnotationAssertion( "cardiovascular tuberculoses"^^xsd:string) AnnotationAssertion( "cardiovascular tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060570"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ritscher-Schinzel syndrome 1) AnnotationAssertion(Annotation( "PMID:24065355"^^xsd:string) "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "WASHC5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:220210"^^xsd:string) AnnotationAssertion( "RTSC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060571"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ritscher-Schinzel syndrome 2) AnnotationAssertion(Annotation( "PMID:24916641"^^xsd:string) "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-12-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300963"^^xsd:string) AnnotationAssertion( "CCDC22-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RTSC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060572"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (von Willebrand's disease 1) AnnotationAssertion(Annotation( "PMID:16889557"^^xsd:string) Annotation( "PMID:8456432"^^xsd:string) "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.01"^^xsd:string) AnnotationAssertion( "MESH:D056725"^^xsd:string) AnnotationAssertion( "MIM:193400"^^xsd:string) AnnotationAssertion( "MONDO:0008668"^^xsd:string) AnnotationAssertion( "NCI:C131685"^^xsd:string) AnnotationAssertion( "OMIA:001057"^^xsd:string) AnnotationAssertion( "VWD, TYPE 1"^^xsd:string) AnnotationAssertion( "VWD1"^^xsd:string) AnnotationAssertion( "von Willebrand disease I"^^xsd:string) AnnotationAssertion( "von Willebrand disease type 1"^^xsd:string) AnnotationAssertion( "von Willebrand disease type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "von Willebrand disease type 1, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0060573"^^xsd:string) AnnotationAssertion(rdfs:label "von Willebrand's disease 1"^^xsd:string) SubClassOf( ) # Class: (von Willebrand's disease 2) AnnotationAssertion(Annotation( "PMID:20409624"^^xsd:string) "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613554"^^xsd:string) AnnotationAssertion( "OMIA:001339"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.02"^^xsd:string) AnnotationAssertion( "MESH:D056728"^^xsd:string) AnnotationAssertion( "ORDO:166081"^^xsd:string) AnnotationAssertion( "Type II von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIA von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIB von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIM von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIN von Willebrand Disease"^^xsd:string) AnnotationAssertion( "VWD type 2"^^xsd:string) AnnotationAssertion( "VWD2"^^xsd:string) AnnotationAssertion( "Von Willebrand disease II"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2"^^xsd:string) AnnotationAssertion( "VWD2A"^^xsd:string) AnnotationAssertion( "VWD2B"^^xsd:string) AnnotationAssertion( "VWD2M"^^xsd:string) AnnotationAssertion( "VWD2N"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2A"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2B"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2M"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2N"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VON WILLEBRAND FACTOR POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:0060574"^^xsd:string) AnnotationAssertion(rdfs:label "von Willebrand's disease 2"^^xsd:string) SubClassOf( ) # Class: (3MC syndrome 1) AnnotationAssertion(Annotation( "MIM:257920"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/3mc-syndrome"^^xsd:string) "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257920"^^xsd:string) AnnotationAssertion( "EFO:1001978"^^xsd:string) AnnotationAssertion( "MESH:C537738"^^xsd:string) AnnotationAssertion( "3MC1"^^xsd:string) AnnotationAssertion( "MASP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Michels syndrome"^^xsd:string) AnnotationAssertion( "craniosynostosis with lid anomalies"^^xsd:string) AnnotationAssertion( "oculopalatoskeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060575"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3MC syndrome 2) AnnotationAssertion(Annotation( "MIM:265050"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/3mc-syndrome"^^xsd:string) "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:265050"^^xsd:string) AnnotationAssertion( "EFO:1001977"^^xsd:string) AnnotationAssertion( "MESH:C535586"^^xsd:string) AnnotationAssertion( "3MC2"^^xsd:string) AnnotationAssertion( "COLEC11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Carnevale Krajewska Fischetto syndrome"^^xsd:string) AnnotationAssertion( "Carnevale Syndrome"^^xsd:string) AnnotationAssertion( "OSA Syndrome"^^xsd:string) AnnotationAssertion( "oculo-skeletal-abdominal syndrome"^^xsd:string) AnnotationAssertion( "ptosis of eyelids with diastasis recti and hip dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060576"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3MC syndrome 3) AnnotationAssertion(Annotation( "PMID:21258343"^^xsd:string) "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535704"^^xsd:string) AnnotationAssertion( "MIM:248340"^^xsd:string) AnnotationAssertion( "MONDO:0009554"^^xsd:string) AnnotationAssertion( "3MC3"^^xsd:string) AnnotationAssertion( "COLEC10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Malpuech facial clefting syndrome"^^xsd:string) AnnotationAssertion( "Malpuech syndrome"^^xsd:string) AnnotationAssertion( "facial clefting syndrome, Gypsy type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060577"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 1) AnnotationAssertion(Annotation( "PMID:18203203"^^xsd:string) "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:163950"^^xsd:string) AnnotationAssertion( "NS1"^^xsd:string) AnnotationAssertion( "Noonan syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060578"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 2) AnnotationAssertion(Annotation( "PMID:5782826"^^xsd:string) "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "Noonan syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "MESH:C548081"^^xsd:string) AnnotationAssertion( "MIM:605275"^^xsd:string) AnnotationAssertion( "MONDO:0011531"^^xsd:string) AnnotationAssertion( "NS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060580"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 3) AnnotationAssertion(Annotation( "PMID:16474405"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609942"^^xsd:string) AnnotationAssertion( "MESH:C537847"^^xsd:string) AnnotationAssertion( "NS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060581"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 4) AnnotationAssertion(Annotation( "PMID:19438935"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610733"^^xsd:string) AnnotationAssertion( "SOS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C548082"^^xsd:string) AnnotationAssertion( "NS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060582"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 5) AnnotationAssertion(Annotation( "PMID:17603483"^^xsd:string) "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611553"^^xsd:string) AnnotationAssertion( "MESH:C548083"^^xsd:string) AnnotationAssertion( "NS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060583"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 6) AnnotationAssertion(Annotation( "PMID:19966803"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613224"^^xsd:string) AnnotationAssertion( "MESH:C548084"^^xsd:string) AnnotationAssertion( "NS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060584"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 7) AnnotationAssertion(Annotation( "PMID:19206169"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613706"^^xsd:string) AnnotationAssertion( "MONDO:0013379"^^xsd:string) AnnotationAssertion( "NS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060585"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 8) AnnotationAssertion(Annotation( "PMID:24939608"^^xsd:string) Annotation( "PMID:25124994"^^xsd:string) "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615355"^^xsd:string) AnnotationAssertion( "NS8"^^xsd:string) AnnotationAssertion( "RIT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060586"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 9) AnnotationAssertion(Annotation( "PMID:25795793"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616559"^^xsd:string) AnnotationAssertion( "NS9"^^xsd:string) AnnotationAssertion( "SOS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060587"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 10) AnnotationAssertion(Annotation( "PMID:25795793"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001517"^^xsd:string) AnnotationAssertion( "MIM:616564"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1"^^xsd:string) AnnotationAssertion( "NS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LZTR1-related disorder"^^xsd:string) AnnotationAssertion( "DOID:0060588"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Yunis-Varon syndrome) AnnotationAssertion(Annotation( "PMID:23623387"^^xsd:string) "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:216340"^^xsd:string) AnnotationAssertion( "RDO:0002382"^^xsd:string) AnnotationAssertion( "GARD:331"^^xsd:string) AnnotationAssertion( "MESH:C536719"^^xsd:string) AnnotationAssertion( "YVS"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060589"^^xsd:string) AnnotationAssertion(rdfs:label "Yunis-Varon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (XFE progeroid syndrome) AnnotationAssertion(Annotation( "PMID:17183314"^^xsd:string) "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610965"^^xsd:string) AnnotationAssertion( "GARD:10628"^^xsd:string) AnnotationAssertion( "MESH:C567043"^^xsd:string) AnnotationAssertion( "NCI:C173111"^^xsd:string) AnnotationAssertion( "XFEPS"^^xsd:string) AnnotationAssertion( "XPF-ERCC1 Progeroid Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060590"^^xsd:string) AnnotationAssertion(rdfs:label "XFE progeroid syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (WHIM syndrome 1) AnnotationAssertion(Annotation( "PMID:10767001"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/WHIM_syndrome"^^xsd:string) "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9297"^^xsd:string) AnnotationAssertion( "MESH:C536697"^^xsd:string) AnnotationAssertion( "MIM:193670"^^xsd:string) AnnotationAssertion( "MONDO:8000006"^^xsd:string) AnnotationAssertion( "NCI:C176819"^^xsd:string) AnnotationAssertion( "CXCR4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WHIMS1"^^xsd:string) AnnotationAssertion( "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060591"^^xsd:string) AnnotationAssertion(rdfs:label "WHIM syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (B-cell adult acute lymphocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143"^^xsd:string) "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001935"^^xsd:string) AnnotationAssertion( "NCI:C9143"^^xsd:string) AnnotationAssertion( "B-cell adult acute lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "adult B acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "adult B acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "adult B-lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "adult B-lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "adult b-cell acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "adult b-cell acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "adult b-cell lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "adult b-cell lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060592"^^xsd:string) AnnotationAssertion(rdfs:label "B-cell adult acute lymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atypical chronic myeloid leukemia, BCR-ABL1 negative) AnnotationAssertion(Annotation( "PMID:29226717"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519"^^xsd:string) "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:8747"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.2"^^xsd:string) AnnotationAssertion( "ICD9CM:205.2"^^xsd:string) AnnotationAssertion( "ICDO:9876/3"^^xsd:string) AnnotationAssertion( "MESH:D054438"^^xsd:string) AnnotationAssertion( "NCI:C3176"^^xsd:string) AnnotationAssertion( "NCI:C3519"^^xsd:string) AnnotationAssertion( "ORDO:98824"^^xsd:string) AnnotationAssertion( "Ph1-negative myelogenous leukemia"^^xsd:string) AnnotationAssertion( "Ph1-negative myelogenous leukemias"^^xsd:string) AnnotationAssertion( "Ph1-negative myeloid leukemia"^^xsd:string) AnnotationAssertion( "Ph1-negative myeloid leukemias"^^xsd:string) AnnotationAssertion( "Philadelphia-negative myeloid leukemia"^^xsd:string) AnnotationAssertion( "Philadelphia-negative myeloid leukemias"^^xsd:string) AnnotationAssertion( "aCML"^^xsd:string) AnnotationAssertion( "atypical CML"^^xsd:string) AnnotationAssertion( "atypical chronic myeloid leukaemia"^^xsd:string) AnnotationAssertion( "atypical chronic myeloid leukaemia BCR-ABL1 negative"^^xsd:string) AnnotationAssertion( "atypical chronic myeloid leukemia"^^xsd:string) AnnotationAssertion( "subacute myeloid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060597"^^xsd:string) AnnotationAssertion(rdfs:label "atypical chronic myeloid leukemia, BCR-ABL1 negative"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nance-Horan syndrome) AnnotationAssertion(Annotation( "PMID:2246772"^^xsd:string) Annotation( "PMID:6467651"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Nance-Horan_syndrome"^^xsd:string) "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302350"^^xsd:string) AnnotationAssertion( "NHS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7161"^^xsd:string) AnnotationAssertion( "MESH:C538336"^^xsd:string) AnnotationAssertion( "ORDO:627"^^xsd:string) AnnotationAssertion( "Mesiodens-Cataract syndrome"^^xsd:string) AnnotationAssertion( "NHS"^^xsd:string) AnnotationAssertion( "X-linked cataract, with Hutchinsonian teeth"^^xsd:string) AnnotationAssertion( "cataract-dental syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060599"^^xsd:string) AnnotationAssertion(rdfs:label "Nance-Horan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (alpha-2-plasmin inhibitor deficiency) AnnotationAssertion(Annotation( "PMID:11472338"^^xsd:string) Annotation( "PMID:156196"^^xsd:string) "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262850"^^xsd:string) AnnotationAssertion( "RDO:0003676"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.8"^^xsd:string) AnnotationAssertion( "MESH:C537777"^^xsd:string) AnnotationAssertion( "ORDO:79"^^xsd:string) AnnotationAssertion( "Anti-Plasmin Deficiency, Congenital"^^xsd:string) AnnotationAssertion( "Antiplasmin deficiency, congenital"^^xsd:string) AnnotationAssertion( "SERPINF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "antiplasmin deficiency"^^xsd:string) AnnotationAssertion( "plasmin inhibitor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "antiplasmin defiency"^^xsd:string) AnnotationAssertion( "DOID:0060601"^^xsd:string) AnnotationAssertion(rdfs:label "alpha-2-plasmin inhibitor deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alpha-methylacyl-CoA racemase deficiency) AnnotationAssertion(Annotation( "PMID:11861706"^^xsd:string) "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614307"^^xsd:string) AnnotationAssertion( "AMACR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:1001980"^^xsd:string) AnnotationAssertion( "MESH:C565768"^^xsd:string) AnnotationAssertion( "AMACR Deficiency"^^xsd:string) AnnotationAssertion( "AMACRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060602"^^xsd:string) AnnotationAssertion(rdfs:label "alpha-methylacyl-CoA racemase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated anhidrosis with normal sweat glands) AnnotationAssertion(Annotation( "PMID:2401610"^^xsd:string) "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106190"^^xsd:string) AnnotationAssertion( "MONDO:0007118"^^xsd:string) AnnotationAssertion( "ANHD"^^xsd:string) AnnotationAssertion( "Dann-Epstein-Sohar syndrome"^^xsd:string) AnnotationAssertion( "ITPR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060603"^^xsd:string) AnnotationAssertion(rdfs:label "isolated anhidrosis with normal sweat glands"^^xsd:string) SubClassOf( ) # Class: (ankyloglossia) AnnotationAssertion(Annotation( "PMID:18983637"^^xsd:string) Annotation( "PMID:5251442"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ankyloglossia"^^xsd:string) "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106280"^^xsd:string) AnnotationAssertion( "ICD10CM:Q38.1"^^xsd:string) AnnotationAssertion( "MESH:D000072676"^^xsd:string) AnnotationAssertion( "Ankyloglossias"^^xsd:string) AnnotationAssertion( "partial ankyloglossia"^^xsd:string) AnnotationAssertion( "partial ankyloglossias"^^xsd:string) AnnotationAssertion( "tongue tie"^^xsd:string) AnnotationAssertion( "tongue ties"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060604"^^xsd:string) AnnotationAssertion(rdfs:label "ankyloglossia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (fetal nicotine spectrum disorder) AnnotationAssertion(Annotation( "PMID:20363831"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/"^^xsd:string) "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060606"^^xsd:string) AnnotationAssertion(rdfs:label "fetal nicotine spectrum disorder"^^xsd:string) SubClassOf( ) # Class: (microcephalic osteodysplastic primordial dwarfism type I) AnnotationAssertion(Annotation( "MIM:210710"^^xsd:string) Annotation( "PMID:22302400"^^xsd:string) "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210710"^^xsd:string) AnnotationAssertion( "GARD:5120"^^xsd:string) AnnotationAssertion( "MESH:C537577"^^xsd:string) AnnotationAssertion( "ORDO:2636"^^xsd:string) AnnotationAssertion( "Mopd 1"^^xsd:string) AnnotationAssertion( "Mopd I"^^xsd:string) AnnotationAssertion( "Mopd1"^^xsd:string) AnnotationAssertion( "MopdI"^^xsd:string) AnnotationAssertion( "TALS"^^xsd:string) AnnotationAssertion( "Taybi Linder syndrome"^^xsd:string) AnnotationAssertion( "brachymelic primordial dwarfism"^^xsd:string) AnnotationAssertion( "cephaloskeletal dysplasia"^^xsd:string) AnnotationAssertion( "low-birth-weight dwarfism with skeletal dysplasia"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism type 1"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type 1"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060608"^^xsd:string) AnnotationAssertion(rdfs:label "microcephalic osteodysplastic primordial dwarfism type I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microcephalic osteodysplastic primordial dwarfism type II) AnnotationAssertion(Annotation( "MIM:210720"^^xsd:string) Annotation( "PMID:7551160"^^xsd:string) "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210720"^^xsd:string) AnnotationAssertion( "MESH:C565898"^^xsd:string) AnnotationAssertion( "ORDO:2637"^^xsd:string) AnnotationAssertion( "MOPD II"^^xsd:string) AnnotationAssertion( "MOPD2"^^xsd:string) AnnotationAssertion( "MOPDII"^^xsd:string) AnnotationAssertion( "Majewski osteodysplastic primordial dwarfism type II"^^xsd:string) AnnotationAssertion( "PCNT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism, type 2"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism type II"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060609"^^xsd:string) AnnotationAssertion(rdfs:label "microcephalic osteodysplastic primordial dwarfism type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megacystis-microcolon-intestinal hypoperistalsis syndrome) AnnotationAssertion(Annotation( "PMID:21792650"^^xsd:string) Annotation( "PMID:25407000"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Berdon_syndrome"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome"^^xsd:string) "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO)"^^xsd:string) AnnotationAssertion( "ACTG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536138"^^xsd:string) AnnotationAssertion( "MESH:C563597"^^xsd:string) AnnotationAssertion( "MIM:155310"^^xsd:string) AnnotationAssertion( "MIM:PS249210"^^xsd:string) AnnotationAssertion( "MONDO:0025986"^^xsd:string) AnnotationAssertion( "NCI:C98982"^^xsd:string) AnnotationAssertion( "ORDO:2241"^^xsd:string) AnnotationAssertion( "Berdon syndrome"^^xsd:string) AnnotationAssertion( "MMIH"^^xsd:string) AnnotationAssertion( "VSCM"^^xsd:string) AnnotationAssertion( "idiopathic intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "infantile visceral myopathy"^^xsd:string) AnnotationAssertion( "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH"^^xsd:string) AnnotationAssertion( "megaduodenum and/or megacystis"^^xsd:string) AnnotationAssertion( "visceral myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060610"^^xsd:string) AnnotationAssertion(rdfs:label "megacystis-microcolon-intestinal hypoperistalsis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (abdominal obesity-metabolic syndrome) AnnotationAssertion(Annotation( "PMID:17167477"^^xsd:string) "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535554"^^xsd:string) AnnotationAssertion( "MIM:PS605552"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060611"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal obesity-metabolic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (abdominal obesity-metabolic syndrome 3) AnnotationAssertion(Annotation( "MIM:615812"^^xsd:string) Annotation( "PMID:24827035"^^xsd:string) "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001051"^^xsd:string) AnnotationAssertion( "MIM:615812"^^xsd:string) AnnotationAssertion( "AOMS3"^^xsd:string) AnnotationAssertion( "DYRK1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060612"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal obesity-metabolic syndrome 3"^^xsd:string) SubClassOf( ) # Class: (X-linked cleft palate with or without ankyloglossia) AnnotationAssertion(Annotation( "PMID:14729838"^^xsd:string) "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:303400"^^xsd:string) AnnotationAssertion( "TBX22-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536426"^^xsd:string) AnnotationAssertion( "ORDO:324601"^^xsd:string) AnnotationAssertion( "CPX"^^xsd:string) AnnotationAssertion( "X-linked cleft palate"^^xsd:string) AnnotationAssertion( "X-linked cleft palate and ankyloglossia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060613"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cleft palate with or without ankyloglossia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ulnar-mammary syndrome) AnnotationAssertion(Annotation( "PMID:8595424"^^xsd:string) Annotation( "PMID:8923944"^^xsd:string) "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181450"^^xsd:string) AnnotationAssertion( "GARD:118"^^xsd:string) AnnotationAssertion( "MESH:C536937"^^xsd:string) AnnotationAssertion( "ORDO:3138"^^xsd:string) AnnotationAssertion( "Pallister ulnar-mammary syndrome"^^xsd:string) AnnotationAssertion( "Schinzel syndrome"^^xsd:string) AnnotationAssertion( "TBX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UMS"^^xsd:string) AnnotationAssertion( "ulnar-mammary syndrome of Pallister"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060614"^^xsd:string) AnnotationAssertion(rdfs:label "ulnar-mammary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neonatal diabetes mellitus with congenital hypothyroidism) AnnotationAssertion(Annotation( "PMID:16715098"^^xsd:string) "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "GLIS3-related condition"^^xsd:string) AnnotationAssertion( "MESH:C565705"^^xsd:string) AnnotationAssertion( "MIM:610199"^^xsd:string) AnnotationAssertion( "MONDO:0012436"^^xsd:string) AnnotationAssertion( "ORDO:79118"^^xsd:string) AnnotationAssertion( "NDH"^^xsd:string) AnnotationAssertion( "NDH syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060638"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal diabetes mellitus with congenital hypothyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (permanent neonatal diabetes mellitus) AnnotationAssertion(Annotation( "PMID:17213273"^^xsd:string) "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10457"^^xsd:string) AnnotationAssertion( "MESH:C563425"^^xsd:string) AnnotationAssertion( "MIM:PS606176"^^xsd:string) AnnotationAssertion( "MONDO:0100164"^^xsd:string) AnnotationAssertion( "NCI:C114902"^^xsd:string) AnnotationAssertion( "PDMI"^^xsd:string) AnnotationAssertion( "PNDM"^^xsd:string) AnnotationAssertion( "permanent diabetes mellitus, of infancy"^^xsd:string) AnnotationAssertion( "permanent neonatal diabetes mellitus (PNDM)"^^xsd:string) AnnotationAssertion( "DEND"^^xsd:string) AnnotationAssertion( "developmental delay, epilepsy, and neonatal diabetes"^^xsd:string) AnnotationAssertion( "permanent neonatal diabetes mellitus, with neurologic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060639"^^xsd:string) AnnotationAssertion(rdfs:label "permanent neonatal diabetes mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ethylmalonic encephalopathy) AnnotationAssertion(Annotation( "PMID:20528888"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy"^^xsd:string) "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2198"^^xsd:string) AnnotationAssertion( "MESH:C535737"^^xsd:string) AnnotationAssertion( "MIM:602473"^^xsd:string) AnnotationAssertion( "MONDO:0011229"^^xsd:string) AnnotationAssertion( "ORDO:51188"^^xsd:string) AnnotationAssertion( "EE"^^xsd:string) AnnotationAssertion( "Epema Syndrome"^^xsd:string) AnnotationAssertion( "encephalopathy, petechiae, and ethylmalonic aciduria"^^xsd:string) AnnotationAssertion( "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060640"^^xsd:string) AnnotationAssertion(rdfs:label "ethylmalonic encephalopathy"^^xsd:string) SubClassOf( ) # Class: (endocrine-cerebro-osteodysplasia syndrome) AnnotationAssertion(Annotation( "PMID:19185282"^^xsd:string) Annotation( "PMID:24853502"^^xsd:string) "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612651"^^xsd:string) AnnotationAssertion( "CILK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567210"^^xsd:string) AnnotationAssertion( "ORDO:199332"^^xsd:string) AnnotationAssertion( "ECO"^^xsd:string) AnnotationAssertion( "ECO syndrome"^^xsd:string) AnnotationAssertion( "endocrine-cerebroosteodysplasia"^^xsd:string) AnnotationAssertion( "DYSPLASTIC CORPUS CALLOSUM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060641"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine-cerebro-osteodysplasia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (recessive dystrophic epidermolysis bullosa) AnnotationAssertion(Annotation( "PMID:3307723"^^xsd:string) Annotation( "PMID:8513326"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa"^^xsd:string) "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.2"^^xsd:string) AnnotationAssertion( "MESH:C567122"^^xsd:string) AnnotationAssertion( "MONDO:0009179"^^xsd:string) AnnotationAssertion( "ORDO:79408"^^xsd:string) AnnotationAssertion( "Hallopeau-Siemens disease"^^xsd:string) AnnotationAssertion( "RDEB, Hallopeau-Siemens type"^^xsd:string) AnnotationAssertion( "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"^^xsd:string) AnnotationAssertion( "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"^^xsd:string) AnnotationAssertion( "autosomal recessive epidermolysis bullosa dystrophica inversa"^^xsd:string) AnnotationAssertion( "dystrophic epidermolysis bullosa, autosomal recessive"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, AR"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, Hallopeau-Siemens type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, autosomal recessive"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, recessive"^^xsd:string) AnnotationAssertion( "severe generalized RDEB"^^xsd:string) AnnotationAssertion( "severe generalized recessive dystrophic epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060642"^^xsd:string) AnnotationAssertion(rdfs:label "recessive dystrophic epidermolysis bullosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary sclerosing cholangitis) AnnotationAssertion(Annotation( "PMID:7877651"^^xsd:string) "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1280"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.01"^^xsd:string) AnnotationAssertion( "MIM:613806"^^xsd:string) AnnotationAssertion( "MONDO:0013433"^^xsd:string) AnnotationAssertion( "NCI:C4828"^^xsd:string) AnnotationAssertion( "ORDO:171"^^xsd:string) AnnotationAssertion( "PSC"^^xsd:string) AnnotationAssertion( "primary sclerosing cholangitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060643"^^xsd:string) AnnotationAssertion(rdfs:label "primary sclerosing cholangitis"^^xsd:string) SubClassOf( ) # Class: (chondrodysplasia-pseudohermaphroditism syndrome) AnnotationAssertion(Annotation( "PMID:1342874"^^xsd:string) "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536123"^^xsd:string) AnnotationAssertion( "MIM:600092"^^xsd:string) AnnotationAssertion( "MONDO:0010814"^^xsd:string) AnnotationAssertion( "ORDO:1422"^^xsd:string) AnnotationAssertion( "HHAT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NNMS"^^xsd:string) AnnotationAssertion( "Nivelon-Nivelon-Mabille syndrome"^^xsd:string) AnnotationAssertion( "chondrodysplasia pseudohermaphrodism syndrome"^^xsd:string) AnnotationAssertion( "chondrodysplasia-disorder of sex development syndrome"^^xsd:string) AnnotationAssertion( "pseudohermaphrodism and chondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060644"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia-pseudohermaphroditism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic recurrent multifocal osteomyelitis) AnnotationAssertion(Annotation( "PMID:11973628"^^xsd:string) Annotation( "PMID:4403064"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis"^^xsd:string) Annotation( "https://www.nomidalliance.org/crmo.php"^^xsd:string) "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6108"^^xsd:string) AnnotationAssertion( "ICD10CM:M86.3"^^xsd:string) AnnotationAssertion( "MESH:C535456"^^xsd:string) AnnotationAssertion( "MIM:PS609628"^^xsd:string) AnnotationAssertion( "MONDO:0009813"^^xsd:string) AnnotationAssertion( "ORDO:324964"^^xsd:string) AnnotationAssertion( "CMO"^^xsd:string) AnnotationAssertion( "CRMO"^^xsd:string) AnnotationAssertion( "chronic multifocal osteomyelitis"^^xsd:string) AnnotationAssertion( "chronic osteomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060645"^^xsd:string) AnnotationAssertion(rdfs:label "chronic recurrent multifocal osteomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital chylothorax) AnnotationAssertion(Annotation( "PMID:416049"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Chylothorax"^^xsd:string) "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603523"^^xsd:string) AnnotationAssertion( "MESH:C535461"^^xsd:string) AnnotationAssertion( "ORDO:264688"^^xsd:string) AnnotationAssertion( "congenital hydrothorax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060646"^^xsd:string) AnnotationAssertion(rdfs:label "congenital chylothorax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal encasement syndrome) AnnotationAssertion(Annotation( "PMID:20961246"^^xsd:string) "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO)"^^xsd:string) AnnotationAssertion( "CHUK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613630"^^xsd:string) AnnotationAssertion( "ORDO:465824"^^xsd:string) AnnotationAssertion( "cocoon syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060647"^^xsd:string) AnnotationAssertion(rdfs:label "fetal encasement syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis) AnnotationAssertion(Annotation( "PMID:17914436"^^xsd:string) Annotation( "PMID:30242500"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis"^^xsd:string) "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0060605"^^xsd:string) AnnotationAssertion( "GARD:10025"^^xsd:string) AnnotationAssertion( "MESH:C537775"^^xsd:string) AnnotationAssertion( "MIM:PS107250"^^xsd:string) AnnotationAssertion( "ORDO:88632"^^xsd:string) AnnotationAssertion( "ASMD"^^xsd:string) AnnotationAssertion( "ASOD"^^xsd:string) AnnotationAssertion( "anterior segment anomalies"^^xsd:string) AnnotationAssertion( "anterior segment developmental anomaly"^^xsd:string) AnnotationAssertion( "anterior segment mesenchymal dysgenesis"^^xsd:string) AnnotationAssertion( "anterior segment ocular dysgenesis"^^xsd:string) AnnotationAssertion( "corneal opacification and other ocular anomalies"^^xsd:string) AnnotationAssertion( "corneal opacification with other ocular anomalies"^^xsd:string) AnnotationAssertion( "sclerocornea with other ocular anomalie"^^xsd:string) AnnotationAssertion( "sclerocornea with other ocular anomalies"^^xsd:string) AnnotationAssertion( "anterior segment anomalies and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060648"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital hereditary endothelial dystrophy of cornea) AnnotationAssertion(Annotation( "PMID:16767101"^^xsd:string) "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536439"^^xsd:string) AnnotationAssertion( "MIM:217700"^^xsd:string) AnnotationAssertion( "MONDO:0009019"^^xsd:string) AnnotationAssertion( "CHED"^^xsd:string) AnnotationAssertion( "CHED2"^^xsd:string) AnnotationAssertion( "congenital hereditary endothelial dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "corneal dystrophy, congenital hereditary endothelial"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy 2"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060649"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hereditary endothelial dystrophy of cornea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dicarboxylic aminoaciduria) AnnotationAssertion(Annotation( "PMID:18200002"^^xsd:string) "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222730"^^xsd:string) AnnotationAssertion( "GARD:1855"^^xsd:string) AnnotationAssertion( "MESH:C536171"^^xsd:string) AnnotationAssertion( "ORDO:2195"^^xsd:string) AnnotationAssertion( "DCBXA"^^xsd:string) AnnotationAssertion( "Dicarboxylic amino aciduria"^^xsd:string) AnnotationAssertion( "Dicarboxylicamino Aciduria"^^xsd:string) AnnotationAssertion( "Glutamate and aspartate transport defect"^^xsd:string) AnnotationAssertion( "dicarboxylicaminoaciduria"^^xsd:string) AnnotationAssertion( "glutamate-aspartate transport defect"^^xsd:string) AnnotationAssertion( "inborn error of glutamic and aspartate transport"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060650"^^xsd:string) AnnotationAssertion(rdfs:label "dicarboxylic aminoaciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MYH-9 related disease) AnnotationAssertion(Annotation( "PMID:21567368"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/myh9-related-disorder"^^xsd:string) "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155100"^^xsd:string) AnnotationAssertion( "OMIA:001608"^^xsd:string) AnnotationAssertion( "MYH9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009646"^^xsd:string) AnnotationAssertion( "MESH:C535507"^^xsd:string) AnnotationAssertion( "MESH:C537831"^^xsd:string) AnnotationAssertion( "NCI:C158788"^^xsd:string) AnnotationAssertion( "ORDO:182050"^^xsd:string) AnnotationAssertion( "APSM"^^xsd:string) AnnotationAssertion( "Alport syndrome with leukocyte inclusions and macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "Alport syndrome with macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "BDPLT6"^^xsd:string) AnnotationAssertion( "Brodie Chole Griffin syndrome"^^xsd:string) AnnotationAssertion( "Dohle leukocyte inclusions with giant platelets"^^xsd:string) AnnotationAssertion( "EPSTNS"^^xsd:string) AnnotationAssertion( "Epstein syndrome"^^xsd:string) AnnotationAssertion( "FTNS"^^xsd:string) AnnotationAssertion( "Fechtner syndrome"^^xsd:string) AnnotationAssertion( "Fechtner's syndrome"^^xsd:string) AnnotationAssertion( "MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS"^^xsd:string) AnnotationAssertion( "MATINS"^^xsd:string) AnnotationAssertion( "MHA"^^xsd:string) AnnotationAssertion( "MYH9 gene-related autosomal macrothrombocytopenias"^^xsd:string) AnnotationAssertion( "MYH9-related disorder"^^xsd:string) AnnotationAssertion( "MYH9-related disorders"^^xsd:string) AnnotationAssertion( "MYH9-related macrothrombocytopenias"^^xsd:string) AnnotationAssertion( "MYH9RD"^^xsd:string) AnnotationAssertion( "Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions"^^xsd:string) AnnotationAssertion( "Macrothrombocytopenia and Progressive Sensorineural Deafness"^^xsd:string) AnnotationAssertion( "May-Hegglin anomaly"^^xsd:string) AnnotationAssertion( "SBS"^^xsd:string) AnnotationAssertion( "Sebastian platelet syndrome"^^xsd:string) AnnotationAssertion( "Sebastian syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant MYH9 spectrum disorders"^^xsd:string) AnnotationAssertion( "bleeding disorder, platelet-type, 6"^^xsd:string) AnnotationAssertion( "macrothrombocytopathy, nephritis, and deafness"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia with dispersed leukocytic inclusions"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia with leukocyte inclusions"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia, nephritis, and deafness"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia, progressive deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060651"^^xsd:string) AnnotationAssertion(rdfs:label "MYH-9 related disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 1) AnnotationAssertion(Annotation( "PMID:9292543"^^xsd:string) "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)"^^xsd:string) AnnotationAssertion( "MIM:133100"^^xsd:string) AnnotationAssertion( "ICD10CM:D75.0"^^xsd:string) AnnotationAssertion( "MESH:C536842"^^xsd:string) AnnotationAssertion( "ORDO:90042"^^xsd:string) AnnotationAssertion( "ECYT1"^^xsd:string) AnnotationAssertion( "PFCP"^^xsd:string) AnnotationAssertion( "autosomal dominant benign erythrocytosis"^^xsd:string) AnnotationAssertion( "benign familial polycythemia"^^xsd:string) AnnotationAssertion( "congenital erythrocytosis"^^xsd:string) AnnotationAssertion( "hereditary erythrocytosis"^^xsd:string) AnnotationAssertion( "primary familial and congenital polycythemia"^^xsd:string) AnnotationAssertion( "primary familial polycythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060652"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome 3) AnnotationAssertion(Annotation( "PMID:17701898"^^xsd:string) "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "PIP5K1C-related condition"^^xsd:string) AnnotationAssertion( "GARD:12644"^^xsd:string) AnnotationAssertion( "MESH:C566961"^^xsd:string) AnnotationAssertion( "MIM:611369"^^xsd:string) AnnotationAssertion( "MONDO:0012656"^^xsd:string) AnnotationAssertion( "ORDO:137783"^^xsd:string) AnnotationAssertion( "LCCS3"^^xsd:string) AnnotationAssertion( "multiple contractural syndrome, Israeli Bedouin type B"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Israeli Bedouin type B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060653"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome 4) AnnotationAssertion(Annotation( "PMID:22610851"^^xsd:string) "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12645"^^xsd:string) AnnotationAssertion( "MIM:614915"^^xsd:string) AnnotationAssertion( "LCCS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MYBPC1-RELATED AUTOSOMAL RECESSIVE NON-LETHAL ARTHROGRYPOSIS MULTIPLEX CONGENITA SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:0060654"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis) AnnotationAssertion(Annotation( "PMID:20643494"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1420/"^^xsd:string) "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:1699"^^xsd:string) AnnotationAssertion( "CONGENITAL ICHTHYOSIS OF SKIN"^^xsd:string) AnnotationAssertion( "MESH:D016113"^^xsd:string) AnnotationAssertion( "MIM:PS242300"^^xsd:string) AnnotationAssertion( "NCI:C84805"^^xsd:string) AnnotationAssertion( "ORDO:281097"^^xsd:string) AnnotationAssertion( "ARCI"^^xsd:string) AnnotationAssertion( "alligator skin"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythroderma, dry type"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythroderma, wet type"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythrodermas"^^xsd:string) AnnotationAssertion( "congenital non bullous ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "congenital nonbullous ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "lamellar ichthyose"^^xsd:string) AnnotationAssertion( "lamellar ichthyoses"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "nonbullous congenital lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "nonbullous erythroderma ichthyosiforme"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "lamellar desquamation of the newborn"^^xsd:string) AnnotationAssertion( "DOID:0060655"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 1) AnnotationAssertion(Annotation( "PMID:7824952"^^xsd:string) "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242300"^^xsd:string) AnnotationAssertion( "OMIA:000546"^^xsd:string) AnnotationAssertion( "GARD:3170"^^xsd:string) AnnotationAssertion( "MESH:D017490"^^xsd:string) AnnotationAssertion( "ORDO:100976"^^xsd:string) AnnotationAssertion( "ORDO:281122"^^xsd:string) AnnotationAssertion( "ORDO:313"^^xsd:string) AnnotationAssertion( "ARCI1"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1"^^xsd:string) AnnotationAssertion( "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION"^^xsd:string) AnnotationAssertion( "ICR2"^^xsd:string) AnnotationAssertion( "Ichthyosis Congenita II"^^xsd:string) AnnotationAssertion( "Ichthyosis, Lamellar, 1"^^xsd:string) AnnotationAssertion( "Ichthyosis, TGM1-related"^^xsd:string) AnnotationAssertion( "LI1"^^xsd:string) AnnotationAssertion( "Lamellar Exfoliation of Newborn"^^xsd:string) AnnotationAssertion( "SHCB"^^xsd:string) AnnotationAssertion( "TGM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "bathing suit ichthyosis"^^xsd:string) AnnotationAssertion( "collodion baby syndrome"^^xsd:string) AnnotationAssertion( "collodion baby syndromes"^^xsd:string) AnnotationAssertion( "collodion fetus"^^xsd:string) AnnotationAssertion( "desquamation of newborn"^^xsd:string) AnnotationAssertion( "ichthyosis congenita"^^xsd:string) AnnotationAssertion( "ichthyosis congenita I"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis type 1"^^xsd:string) AnnotationAssertion( "newborn desquamation"^^xsd:string) AnnotationAssertion( "newborn desquamations"^^xsd:string) AnnotationAssertion( "newborn lamellar exfoliation"^^xsd:string) AnnotationAssertion( "newborn lamellar exfoliations"^^xsd:string) AnnotationAssertion( "self-healing collodion baby"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060656"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 1"^^xsd:string) SubClassOf( ) # Class: (anencephaly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anencephaly"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/anencephaly"^^xsd:string) "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5808"^^xsd:string) AnnotationAssertion( "ICD10CM:Q00.0"^^xsd:string) AnnotationAssertion( "MESH:D000757"^^xsd:string) AnnotationAssertion( "MIM:PS206500"^^xsd:string) AnnotationAssertion( "NCI:C84560"^^xsd:string) AnnotationAssertion( "ORDO:1048"^^xsd:string) AnnotationAssertion( "ANPH"^^xsd:string) AnnotationAssertion( "Aprosencephaly"^^xsd:string) AnnotationAssertion( "anencephalia"^^xsd:string) AnnotationAssertion( "anencephalias"^^xsd:string) AnnotationAssertion( "anencephalus"^^xsd:string) AnnotationAssertion( "aprosencephalies"^^xsd:string) AnnotationAssertion( "brain congenital absence"^^xsd:string) AnnotationAssertion( "congenital absence of brain"^^xsd:string) AnnotationAssertion( "hemicranial anencephaly"^^xsd:string) AnnotationAssertion( "incomplete anencephaly"^^xsd:string) AnnotationAssertion( "partial anencephalies"^^xsd:string) AnnotationAssertion( "partial anencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060668"^^xsd:string) AnnotationAssertion(rdfs:label "anencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral cavernous malformation) AnnotationAssertion(Annotation( "http://hmg.oxfordjournals.org/content/18/5/919.long"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation"^^xsd:string) "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001343"^^xsd:string) AnnotationAssertion( "MESH:D020786"^^xsd:string) AnnotationAssertion( "MIM:PS116860"^^xsd:string) AnnotationAssertion( "NCI:C84626"^^xsd:string) AnnotationAssertion( "CAM"^^xsd:string) AnnotationAssertion( "CCM"^^xsd:string) AnnotationAssertion( "Cavernous Angioma, Central Nervous System"^^xsd:string) AnnotationAssertion( "Cavernous Angiomatous Malformation"^^xsd:string) AnnotationAssertion( "Cavernous Hemangioma of Brain"^^xsd:string) AnnotationAssertion( "Cerebral Capillary Malformation"^^xsd:string) AnnotationAssertion( "Cerebral Cavernous Hemangioma"^^xsd:string) AnnotationAssertion( "brain cavernous hemangioma"^^xsd:string) AnnotationAssertion( "brain cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "cavernous angiomatous malformations"^^xsd:string) AnnotationAssertion( "cavernous hemangioma, central nervous system"^^xsd:string) AnnotationAssertion( "cerebral capillary malformations"^^xsd:string) AnnotationAssertion( "cerebral cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations"^^xsd:string) AnnotationAssertion( "extracerebral cavernous hemangioma"^^xsd:string) AnnotationAssertion( "extracerebral cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "familial cavernous angioma"^^xsd:string) AnnotationAssertion( "familial cavernous angiomas"^^xsd:string) AnnotationAssertion( "familial cavernous malformation"^^xsd:string) AnnotationAssertion( "familial cavernous malformations"^^xsd:string) AnnotationAssertion( "intracerebral cavernous hemangioma"^^xsd:string) AnnotationAssertion( "intracerebral cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "CAVERNOUS MALFORMATIONS OF CNS AND RETINA"^^xsd:string) AnnotationAssertion( "HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060669"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral cavernous malformation 2) AnnotationAssertion(Annotation( "PMID:14624391"^^xsd:string) "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603284"^^xsd:string) AnnotationAssertion( "MESH:C566394"^^xsd:string) AnnotationAssertion( "ORDO:221061"^^xsd:string) AnnotationAssertion( "CCM2"^^xsd:string) AnnotationAssertion( "CCM2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060670"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral cavernous malformation 3) AnnotationAssertion(Annotation( "PMID:15543491"^^xsd:string) "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603285"^^xsd:string) AnnotationAssertion( "ICD10CM:Q28.3"^^xsd:string) AnnotationAssertion( "MESH:C566393"^^xsd:string) AnnotationAssertion( "CCM3"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060671"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GRN-related frontotemporal lobar degeneration with TDP43 inclusions) AnnotationAssertion(Annotation( "PMID:16862116"^^xsd:string) Annotation( "PMID:16983677"^^xsd:string) "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.0"^^xsd:string) AnnotationAssertion( "MIM:607485"^^xsd:string) AnnotationAssertion( "MONDO:0011842"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED"^^xsd:string) AnnotationAssertion( "FTD-GRN"^^xsd:string) AnnotationAssertion( "FTD-PGRN"^^xsd:string) AnnotationAssertion( "FTD2"^^xsd:string) AnnotationAssertion( "FTDU"^^xsd:string) AnnotationAssertion( "FTLD with TDP 43 Pathology"^^xsd:string) AnnotationAssertion( "FTLD-TDP, GRN-related"^^xsd:string) AnnotationAssertion( "FTLDU"^^xsd:string) AnnotationAssertion( "GRN Related Frontotemporal Dementia"^^xsd:string) AnnotationAssertion( "GRN-Related Frontotemporal Dementias"^^xsd:string) AnnotationAssertion( "frontotemporal dementia 2"^^xsd:string) AnnotationAssertion( "frontotemporal lobar degeneration with ubiquitin positive inclusions"^^xsd:string) AnnotationAssertion( "hereditary dysphasic disinhibition dementia"^^xsd:string) AnnotationAssertion( "ubiquitin-positive frontotemporal dementia"^^xsd:string) AnnotationAssertion( "HDDD aphasia, primary progressive"^^xsd:string) AnnotationAssertion( "PPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060672"^^xsd:string) AnnotationAssertion(rdfs:label "GRN-related frontotemporal lobar degeneration with TDP43 inclusions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peters anomaly) AnnotationAssertion(Annotation( "PMID:11403040"^^xsd:string) Annotation( "PMID:12614756"^^xsd:string) Annotation( "PMID:8162071"^^xsd:string) "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7377"^^xsd:string) AnnotationAssertion( "ICD10CM:Q13.4"^^xsd:string) AnnotationAssertion( "MESH:C537884"^^xsd:string) AnnotationAssertion( "ORDO:708"^^xsd:string) AnnotationAssertion( "irido-corneo-trabecular dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060673"^^xsd:string) AnnotationAssertion(rdfs:label "Peters anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia) AnnotationAssertion(Annotation( "PMID:17875969"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1289"^^xsd:string) "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004692"^^xsd:string) AnnotationAssertion( "MESH:C536334"^^xsd:string) AnnotationAssertion( "MIM:PS604772"^^xsd:string) AnnotationAssertion( "ORDO:3286"^^xsd:string) AnnotationAssertion( "bidirectional tachycardia induced by catecholamines"^^xsd:string) AnnotationAssertion( "catecholamine-induced polymorphic ventricular tachycardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VTSIP"^^xsd:string) AnnotationAssertion( "stress-induced polymorphic ventricular tachycardia"^^xsd:string) AnnotationAssertion( "DOID:0060674"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 1) AnnotationAssertion(Annotation( "PMID:12093772"^^xsd:string) Annotation( "PMID:17875969"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110071"^^xsd:string) AnnotationAssertion( "RYR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563409"^^xsd:string) AnnotationAssertion( "MIM:604772"^^xsd:string) AnnotationAssertion( "MONDO:0011484"^^xsd:string) AnnotationAssertion( "NCI:C123414"^^xsd:string) AnnotationAssertion( "ARVC2"^^xsd:string) AnnotationAssertion( "ARVD2"^^xsd:string) AnnotationAssertion( "CPVT1"^^xsd:string) AnnotationAssertion( "CVPT1"^^xsd:string) AnnotationAssertion( "VTSIP1"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 2"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy type 2"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular dysplasia 2"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia type 1"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 2"^^xsd:string) AnnotationAssertion( "stress-induced polymorphic ventricular tachycardia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060675"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 2) AnnotationAssertion(Annotation( "PMID:11401939"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I47.2"^^xsd:string) AnnotationAssertion( "MIM:611938"^^xsd:string) AnnotationAssertion( "MONDO:0012762"^^xsd:string) AnnotationAssertion( "CPVT2"^^xsd:string) AnnotationAssertion( "CVPT2"^^xsd:string) AnnotationAssertion( "VTSIP2"^^xsd:string) AnnotationAssertion( "ventricular tachycardia, stress-induced polymorphic 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060676"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 2"^^xsd:string) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 3) AnnotationAssertion(Annotation( "PMID:17666061"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614021"^^xsd:string) AnnotationAssertion( "CPVT3"^^xsd:string) AnnotationAssertion( "CVPT3"^^xsd:string) AnnotationAssertion( "TECRL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060677"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 3"^^xsd:string) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 4) AnnotationAssertion(Annotation( "PMID:23040497"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614916"^^xsd:string) AnnotationAssertion( "CPVT4"^^xsd:string) AnnotationAssertion( "CVPT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060678"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 4"^^xsd:string) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 5) AnnotationAssertion(Annotation( "PMID:22422768"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615441"^^xsd:string) AnnotationAssertion( "CARDAR"^^xsd:string) AnnotationAssertion( "CPVT5"^^xsd:string) AnnotationAssertion( "CVPT5"^^xsd:string) AnnotationAssertion( "TRDN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cardiac arrhythmia syndrome, with or without skeletal muscle weakness"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060679"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pigment dispersion syndrome) AnnotationAssertion(Annotation( "PMID:10192392"^^xsd:string) Annotation( "PMID:3947295"^^xsd:string) "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600510"^^xsd:string) AnnotationAssertion( "MESH:C563184"^^xsd:string) AnnotationAssertion( "MONDO:0010896"^^xsd:string) AnnotationAssertion( "GPDS1"^^xsd:string) AnnotationAssertion( "PDS"^^xsd:string) AnnotationAssertion( "glaucoma-related pigment dispersion syndrome"^^xsd:string) AnnotationAssertion( "pigment-dispersion type glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060680"^^xsd:string) AnnotationAssertion(rdfs:label "pigment dispersion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy) AnnotationAssertion(Annotation( "PMID:7895015"^^xsd:string) "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11918"^^xsd:string) AnnotationAssertion( "MESH:C579932"^^xsd:string) AnnotationAssertion( "MIM:PS600513"^^xsd:string) AnnotationAssertion( "ORDO:98784"^^xsd:string) AnnotationAssertion( "Adnfle"^^xsd:string) AnnotationAssertion( "ENFL"^^xsd:string) AnnotationAssertion( "autosomal dominant epilepsy"^^xsd:string) AnnotationAssertion( "nocturnal epilepsy, frontal lobe type"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060681"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 1) AnnotationAssertion(Annotation( "PMID:7550350"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600513"^^xsd:string) AnnotationAssertion( "CHRNA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563930"^^xsd:string) AnnotationAssertion( "RDO:0013054"^^xsd:string) AnnotationAssertion( "ENFL1"^^xsd:string) AnnotationAssertion( "EPILEPSY, NOCTURNAL FRONTAL LOBE, 1"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, Type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060682"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 2) AnnotationAssertion(Annotation( "PMID:9758605"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603204"^^xsd:string) AnnotationAssertion( "MESH:C566400"^^xsd:string) AnnotationAssertion( "RDO:0014765"^^xsd:string) AnnotationAssertion( "ENFL2"^^xsd:string) AnnotationAssertion( "EPILEPSY, NOCTURNAL FRONTAL LOBE, 2"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060683"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 2"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 3) AnnotationAssertion(Annotation( "PMID:11062464"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0014001"^^xsd:string) AnnotationAssertion( "MESH:C565334"^^xsd:string) AnnotationAssertion( "MIM:605375"^^xsd:string) AnnotationAssertion( "CHRNB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ENFL3"^^xsd:string) AnnotationAssertion( "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060684"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 3"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 4) AnnotationAssertion(Annotation( "PMID:16826524"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563679"^^xsd:string) AnnotationAssertion( "MIM:610353"^^xsd:string) AnnotationAssertion( "MONDO:0012474"^^xsd:string) AnnotationAssertion( "ENFL4"^^xsd:string) AnnotationAssertion( "familial epilepsy with nocturnal wandering and ictal fear"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy 4"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060685"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 5) AnnotationAssertion(Annotation( "PMID:23086396"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615005"^^xsd:string) AnnotationAssertion( "RDO:9000290"^^xsd:string) AnnotationAssertion( "ENFL5"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, 5"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, Type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060686"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 5"^^xsd:string) SubClassOf( ) # Class: (arteriovenous malformations of the brain) AnnotationAssertion(Annotation( "PMID:7193302"^^xsd:string) "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108010"^^xsd:string) AnnotationAssertion( "EFO:0003916"^^xsd:string) AnnotationAssertion( "ICD10CM:Q28.2"^^xsd:string) AnnotationAssertion( "MESH:D002538"^^xsd:string) AnnotationAssertion( "MONDO:0007154"^^xsd:string) AnnotationAssertion( "ORDO:46724"^^xsd:string) AnnotationAssertion( "BAVM"^^xsd:string) AnnotationAssertion( "Cerebral Arteriovenous Malformation"^^xsd:string) AnnotationAssertion( "cerebral arteriovenous malformations"^^xsd:string) AnnotationAssertion( "congenital intracranial arteriovenous malformations"^^xsd:string) AnnotationAssertion( "intracranial AVM (arteriovenous malformation)"^^xsd:string) AnnotationAssertion( "intracranial arteriovenous malformation"^^xsd:string) AnnotationAssertion( "intracranial arteriovenous malformations"^^xsd:string) AnnotationAssertion( "ruptured intracranial arteriovenous malformation"^^xsd:string) AnnotationAssertion( "CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060688"^^xsd:string) AnnotationAssertion(rdfs:label "arteriovenous malformations of the brain"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrichia with papular lesions) AnnotationAssertion(Annotation( "PMID:10205263"^^xsd:string) "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209500"^^xsd:string) AnnotationAssertion( "HR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:L65.8"^^xsd:string) AnnotationAssertion( "MESH:C565924"^^xsd:string) AnnotationAssertion( "ORDO:86819"^^xsd:string) AnnotationAssertion( "APL"^^xsd:string) AnnotationAssertion( "papular atrichia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060689"^^xsd:string) AnnotationAssertion(rdfs:label "atrichia with papular lesions"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant auditory neuropathy 1) AnnotationAssertion(Annotation( "PMID:15520414"^^xsd:string) Annotation( "PMID:20624953"^^xsd:string) "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609129"^^xsd:string) AnnotationAssertion( "MESH:C563790"^^xsd:string) AnnotationAssertion( "AUNA1"^^xsd:string) AnnotationAssertion( "DIAPH3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NSDAN"^^xsd:string) AnnotationAssertion( "auditory neuropathy, nonsyndromic dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060690"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant auditory neuropathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 16) AnnotationAssertion(Annotation( "PMID:18065693"^^xsd:string) Annotation( "PMID:21454453"^^xsd:string) Annotation( "PMID:9834222"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:187800"^^xsd:string) AnnotationAssertion( "MESH:C566061"^^xsd:string) AnnotationAssertion( "BDPLT16"^^xsd:string) AnnotationAssertion( "Glanzmann thrombasthenia-like with macrothromocytopenia 1"^^xsd:string) AnnotationAssertion( "autosomal dominant Glanzmann thrombasthenia"^^xsd:string) AnnotationAssertion( "autosomal dominant thrombasthenia of Glanzmann and Naegeli"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060691"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 8) AnnotationAssertion(Annotation( "PMID:11196645"^^xsd:string) Annotation( "PMID:20966167"^^xsd:string) "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609821"^^xsd:string) AnnotationAssertion( "OMIA:001564"^^xsd:string) AnnotationAssertion( "MESH:C565220"^^xsd:string) AnnotationAssertion( "ORDO:36355"^^xsd:string) AnnotationAssertion( "ADP platelet receptor P2Y12 defect"^^xsd:string) AnnotationAssertion( "BDPLT8"^^xsd:string) AnnotationAssertion( "IMPAIRED ADP-INDUCED PLATELET AGGREGATION"^^xsd:string) AnnotationAssertion( "P2RY12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "P2Y12 defect"^^xsd:string) AnnotationAssertion( "bleeding disorder due to P2RY12 defect"^^xsd:string) AnnotationAssertion( "bleeding disorder, P2RY12"^^xsd:string) AnnotationAssertion( "bleeding disorder, P2RY12-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060692"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brunner syndrome) AnnotationAssertion(Annotation( "PMID:8211186"^^xsd:string) Annotation( "PMID:8503438"^^xsd:string) "An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.8"^^xsd:string) AnnotationAssertion( "MESH:C563156"^^xsd:string) AnnotationAssertion( "MIM:300615"^^xsd:string) AnnotationAssertion( "MONDO:0010379"^^xsd:string) AnnotationAssertion( "ORDO:3057"^^xsd:string) AnnotationAssertion( "BRNRS"^^xsd:string) AnnotationAssertion( "MAOA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "monoamine oxidase A deficiency"^^xsd:string) AnnotationAssertion( "ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060693"^^xsd:string) AnnotationAssertion(rdfs:label "Brunner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cayman type cerebellar ataxia) AnnotationAssertion(Annotation( "PMID:14556008"^^xsd:string) Annotation( "PMID:8845847"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601238"^^xsd:string) AnnotationAssertion( "ICD10CM:G11.0"^^xsd:string) AnnotationAssertion( "MESH:C563363"^^xsd:string) AnnotationAssertion( "ORDO:94122"^^xsd:string) AnnotationAssertion( "ATCAY"^^xsd:string) AnnotationAssertion( "ATCAY-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Cayman ataxia"^^xsd:string) AnnotationAssertion( "Cayman cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060694"^^xsd:string) AnnotationAssertion(rdfs:label "Cayman type cerebellar ataxia"^^xsd:string) SubClassOf( ) # Class: (hyperekplexia) AnnotationAssertion(Annotation( "PMID:12427512"^^xsd:string) Annotation( "PMID:1334371"^^xsd:string) "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001594"^^xsd:string) AnnotationAssertion( "GARD:3129"^^xsd:string) AnnotationAssertion( "MESH:D000071017"^^xsd:string) AnnotationAssertion( "MIM:PS149400"^^xsd:string) AnnotationAssertion( "Kok disease"^^xsd:string) AnnotationAssertion( "STHE"^^xsd:string) AnnotationAssertion( "congenital stiff man syndrome"^^xsd:string) AnnotationAssertion( "exagerrated startle reflex"^^xsd:string) AnnotationAssertion( "exaggerated startle reaction"^^xsd:string) AnnotationAssertion( "hyperekplexias"^^xsd:string) AnnotationAssertion( "startle disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060695"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperekplexia 1) AnnotationAssertion(Annotation( "PMID:7881416"^^xsd:string) Annotation( "PMID:8298642"^^xsd:string) "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:149400"^^xsd:string) AnnotationAssertion( "GLRA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HKPX1"^^xsd:string) AnnotationAssertion( "hereditary hyperekplexia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060696"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperekplexia 2) AnnotationAssertion(Annotation( "PMID:11929858"^^xsd:string) Annotation( "PMID:21391991"^^xsd:string) "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.8"^^xsd:string) AnnotationAssertion( "MIM:614619"^^xsd:string) AnnotationAssertion( "GLRB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HKPX2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060697"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperekplexia 3) AnnotationAssertion(Annotation( "PMID:16751771"^^xsd:string) Annotation( "PMID:22700964"^^xsd:string) "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614618"^^xsd:string) AnnotationAssertion( "ORDO:3197"^^xsd:string) AnnotationAssertion( "HKPX3"^^xsd:string) AnnotationAssertion( "SLC6A5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060698"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia) AnnotationAssertion(Annotation( "PMID:19809483"^^xsd:string) "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10828"^^xsd:string) AnnotationAssertion( "MIM:PS145980"^^xsd:string) AnnotationAssertion( "NCI:C123262"^^xsd:string) AnnotationAssertion( "ORDO:405"^^xsd:string) AnnotationAssertion( "FBH"^^xsd:string) AnnotationAssertion( "FBHH"^^xsd:string) AnnotationAssertion( "FHH"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia"^^xsd:string) AnnotationAssertion( "familial benign hypocalciuric hypercalcemia"^^xsd:string) AnnotationAssertion( "NEPHROLITHIASIS/NEPHROCALCINOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060699"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia 1) AnnotationAssertion(Annotation( "PMID:7916660"^^xsd:string) "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145980"^^xsd:string) AnnotationAssertion( "RDO:0002925"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.5"^^xsd:string) AnnotationAssertion( "MESH:C537145"^^xsd:string) AnnotationAssertion( "ORDO:93372"^^xsd:string) AnnotationAssertion( "FBH1"^^xsd:string) AnnotationAssertion( "FHH type 1"^^xsd:string) AnnotationAssertion( "FHH1"^^xsd:string) AnnotationAssertion( "HHC1"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia 1"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia type 1"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia, type 1"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia, type I"^^xsd:string) AnnotationAssertion( "hypocalciuric hypercalcemia type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060700"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia 1"^^xsd:string) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia 2) AnnotationAssertion(Annotation( "PMID:23802516"^^xsd:string) "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145981"^^xsd:string) AnnotationAssertion( "GNA11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9758"^^xsd:string) AnnotationAssertion( "MESH:C537146"^^xsd:string) AnnotationAssertion( "ORDO:101049"^^xsd:string) AnnotationAssertion( "FBH2"^^xsd:string) AnnotationAssertion( "FHH type 2"^^xsd:string) AnnotationAssertion( "HHC2"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, type 2"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, type II"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia type 2"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia, type II"^^xsd:string) AnnotationAssertion( "hypocalciuric hypercalcemia type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060701"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia 2"^^xsd:string) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia 3) AnnotationAssertion(Annotation( "PMID:23222959"^^xsd:string) "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600740"^^xsd:string) AnnotationAssertion( "GARD:2878"^^xsd:string) AnnotationAssertion( "MESH:C537147"^^xsd:string) AnnotationAssertion( "ORDO:101050"^^xsd:string) AnnotationAssertion( "AP2S1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FBH3"^^xsd:string) AnnotationAssertion( "FHH type 3"^^xsd:string) AnnotationAssertion( "HHC3"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, Oklahoma type"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, Oklahoma variant"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, type III"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia type 3"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia type III"^^xsd:string) AnnotationAssertion( "hypocalciuric hypercalcemia type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060702"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia 3"^^xsd:string) SubClassOf( ) # Class: (Muenke syndrome) AnnotationAssertion(Annotation( "PMID:18000976"^^xsd:string) Annotation( "PMID:9042914"^^xsd:string) "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602849"^^xsd:string) AnnotationAssertion( "GARD:7097"^^xsd:string) AnnotationAssertion( "MESH:C537369"^^xsd:string) AnnotationAssertion( "NCI:C84904"^^xsd:string) AnnotationAssertion( "ORDO:53271"^^xsd:string) AnnotationAssertion( "FGFR3-associated coronal synostosis"^^xsd:string) AnnotationAssertion( "FGFR3-related craniosynostosis"^^xsd:string) AnnotationAssertion( "MNKES"^^xsd:string) AnnotationAssertion( "Muenke nonsyndromic coronal craniosynostosis"^^xsd:string) AnnotationAssertion( "syndrome of coronal craniosynostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060703"^^xsd:string) AnnotationAssertion(rdfs:label "Muenke syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymphoproliferative syndrome) AnnotationAssertion(Annotation( "PMID:198660"^^xsd:string) Annotation( "PMID:22197273"^^xsd:string) "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008232"^^xsd:string) AnnotationAssertion( "MIM:PS308240"^^xsd:string) AnnotationAssertion( "ORDO:538963"^^xsd:string) AnnotationAssertion( "Combined immunodeficiency due to ITK deficiency"^^xsd:string) AnnotationAssertion( "Duncan disease"^^xsd:string) AnnotationAssertion( "Duncan's syndrome"^^xsd:string) AnnotationAssertion( "EBVS"^^xsd:string) AnnotationAssertion( "Epstein Barr Virus Induced Lymphoproliferative Disease In Males"^^xsd:string) AnnotationAssertion( "Epstein Barr Virus Infection, Familial Fatal"^^xsd:string) AnnotationAssertion( "Familial Fatal Epstein Barr Infection"^^xsd:string) AnnotationAssertion( "IMD5"^^xsd:string) AnnotationAssertion( "INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Immunodeficiency 5"^^xsd:string) AnnotationAssertion( "Immunodeficiency, X Linked Progressive Combined Variable"^^xsd:string) AnnotationAssertion( "LYP"^^xsd:string) AnnotationAssertion( "Lymphoproliferative Disorder"^^xsd:string) AnnotationAssertion( "Purtilo Syndrome"^^xsd:string) AnnotationAssertion( "Purtilo Syndromes"^^xsd:string) AnnotationAssertion( "X Linked Lymphoproliferative Disease"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative diseases"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative disorder"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative disorders"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative syndrome"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative syndromes"^^xsd:string) AnnotationAssertion( "XLP"^^xsd:string) AnnotationAssertion( "XLPD"^^xsd:string) AnnotationAssertion( "lymphoproliferative disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EBV infection, severe, susceptibility to"^^xsd:string) AnnotationAssertion( "Lymphoproliferative disorders, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0060704"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoproliferative syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked lymphoproliferative syndrome 1) AnnotationAssertion(Annotation( "PMID:6283885"^^xsd:string) Annotation( "PMID:9771704"^^xsd:string) "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7906"^^xsd:string) AnnotationAssertion( "MIM:308240"^^xsd:string) AnnotationAssertion( "NCI:C170434"^^xsd:string) AnnotationAssertion( "SH2D1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "XLP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060705"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked lymphoproliferative syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked lymphoproliferative syndrome 2) AnnotationAssertion(Annotation( "PMID:17080092"^^xsd:string) "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300635"^^xsd:string) AnnotationAssertion( "GARD:10916"^^xsd:string) AnnotationAssertion( "ICD10CM:D82.3"^^xsd:string) AnnotationAssertion( "MESH:C564469"^^xsd:string) AnnotationAssertion( "XIAP deficiency"^^xsd:string) AnnotationAssertion( "XLP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060706"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked lymphoproliferative syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoproliferative syndrome 1) AnnotationAssertion(Annotation( "PMID:19425169"^^xsd:string) Annotation( "PMID:21109689"^^xsd:string) "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567815"^^xsd:string) AnnotationAssertion( "MIM:613011"^^xsd:string) AnnotationAssertion( "MONDO:0013081"^^xsd:string) AnnotationAssertion( "EBV-associated lymphoproliferative syndrome, autosomal 1"^^xsd:string) AnnotationAssertion( "LPFS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060707"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoproliferative syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoproliferative syndrome 2) AnnotationAssertion(Annotation( "PMID:22197273"^^xsd:string) Annotation( "PMID:22801960"^^xsd:string) "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000525"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.9"^^xsd:string) AnnotationAssertion( "MIM:615122"^^xsd:string) AnnotationAssertion( "CD27 deficiency"^^xsd:string) AnnotationAssertion( "LPFS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060708"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoproliferative syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 2) AnnotationAssertion(Annotation( "PMID:11773004"^^xsd:string) Annotation( "PMID:16116617"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242100"^^xsd:string) AnnotationAssertion( "MESH:C538603"^^xsd:string) AnnotationAssertion( "NCI:C132827"^^xsd:string) AnnotationAssertion( "ALOX12B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ARCI2"^^xsd:string) AnnotationAssertion( "COLLODION BABY, SELF-HEALING"^^xsd:string) AnnotationAssertion( "NCIE1"^^xsd:string) AnnotationAssertion( "Nonbullous congenital ichthyosiform erythroderma 1"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma, BROCQ congenital, nonbullous form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060710"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 3) AnnotationAssertion(Annotation( "PMID:11398099"^^xsd:string) Annotation( "PMID:11773004"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564699"^^xsd:string) AnnotationAssertion( "MIM:606545"^^xsd:string) AnnotationAssertion( "MONDO:0011680"^^xsd:string) AnnotationAssertion( "ALOXE3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ARCI3"^^xsd:string) AnnotationAssertion( "COLLODION BABY, SELF-HEALING"^^xsd:string) AnnotationAssertion( "LI5"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 5"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060711"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 4A) AnnotationAssertion(Annotation( "PMID:10094194"^^xsd:string) Annotation( "PMID:20672373"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601277"^^xsd:string) AnnotationAssertion( "ABCA12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537264"^^xsd:string) AnnotationAssertion( "ARCI4A"^^xsd:string) AnnotationAssertion( "ICR2B"^^xsd:string) AnnotationAssertion( "Ichthyosis congenita 2B"^^xsd:string) AnnotationAssertion( "LI2"^^xsd:string) AnnotationAssertion( "ichthyosis congenita IIB"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 2"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060712"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 4A"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 4B) AnnotationAssertion(Annotation( "PMID:21339420"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242500"^^xsd:string) AnnotationAssertion( "ABCA12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.4"^^xsd:string) AnnotationAssertion( "MESH:C538424"^^xsd:string) AnnotationAssertion( "NCI:C98934"^^xsd:string) AnnotationAssertion( "ORDO:457"^^xsd:string) AnnotationAssertion( "ARCI4B"^^xsd:string) AnnotationAssertion( "HI"^^xsd:string) AnnotationAssertion( "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN)"^^xsd:string) AnnotationAssertion( "harlequin baby syndrome"^^xsd:string) AnnotationAssertion( "harlequin fetus"^^xsd:string) AnnotationAssertion( "harlequin ichthyoses"^^xsd:string) AnnotationAssertion( "harlequin ichthyosis"^^xsd:string) AnnotationAssertion( "harlequin type ichthyosis"^^xsd:string) AnnotationAssertion( "harlequin type ichthyosis congenita"^^xsd:string) AnnotationAssertion( "harlequin type ichthyosis fetalis"^^xsd:string) AnnotationAssertion( "ichthyosis congenita, harlequin fetus type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060713"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 4B"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 5) AnnotationAssertion(Annotation( "PMID:10712223"^^xsd:string) Annotation( "PMID:16436457"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565749"^^xsd:string) AnnotationAssertion( "MIM:604777"^^xsd:string) AnnotationAssertion( "MESH:C537265"^^xsd:string) AnnotationAssertion( "ARCI5"^^xsd:string) AnnotationAssertion( "CYP4F22-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LI3"^^xsd:string) AnnotationAssertion( "NNCI"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis"^^xsd:string) AnnotationAssertion( "ichthyosis congenita 3"^^xsd:string) AnnotationAssertion( "ichthyosis congenita III"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 3"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis, type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060714"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 5"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 6) AnnotationAssertion(Annotation( "PMID:16436457"^^xsd:string) Annotation( "PMID:17557927"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001980"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.2"^^xsd:string) AnnotationAssertion( "MIM:612281"^^xsd:string) AnnotationAssertion( "ARCI6"^^xsd:string) AnnotationAssertion( "NIPAL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital ichthyosis, NIPAL4-related"^^xsd:string) AnnotationAssertion( "ichthyosis, NIPAL4-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060715"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 7) AnnotationAssertion(Annotation( "PMID:16117785"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615022"^^xsd:string) AnnotationAssertion( "ARCI7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060716"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 7"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 8) AnnotationAssertion(Annotation( "PMID:21439540"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613943"^^xsd:string) AnnotationAssertion( "ARCI8"^^xsd:string) AnnotationAssertion( "LI4"^^xsd:string) AnnotationAssertion( "LIPN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 4"^^xsd:string) AnnotationAssertion( "late-onset lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060717"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 8"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 9) AnnotationAssertion(Annotation( "PMID:21093221"^^xsd:string) Annotation( "PMID:23754960"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615023"^^xsd:string) AnnotationAssertion( "ARCI9"^^xsd:string) AnnotationAssertion( "CERS3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060718"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 9"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 10) AnnotationAssertion(Annotation( "PMID:22246504"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001588"^^xsd:string) AnnotationAssertion( "MIM:615024"^^xsd:string) AnnotationAssertion( "ARCI10"^^xsd:string) AnnotationAssertion( "Ichthyosis, PNPLA1-related"^^xsd:string) AnnotationAssertion( "PNPLA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Ichthyosis, Golden Retriever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060719"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 10"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 11) AnnotationAssertion(Annotation( "PMID:17273967"^^xsd:string) Annotation( "PMID:18843291"^^xsd:string) Annotation( "PMID:9450882"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536273"^^xsd:string) AnnotationAssertion( "MIM:602400"^^xsd:string) AnnotationAssertion( "ARCI11"^^xsd:string) AnnotationAssertion( "ARIH"^^xsd:string) AnnotationAssertion( "IFAH"^^xsd:string) AnnotationAssertion( "IFAH syndrome"^^xsd:string) AnnotationAssertion( "IHS"^^xsd:string) AnnotationAssertion( "ST14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive ichthyosis with hypotrichosis"^^xsd:string) AnnotationAssertion( "hypotrichosis-congenital ichthyosis syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis"^^xsd:string) AnnotationAssertion( "ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis"^^xsd:string) AnnotationAssertion( "ichthyosis-follicular atrophoderma-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060720"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of deglycosylation 1) AnnotationAssertion(Annotation( "PMID:24651605"^^xsd:string) Annotation( "PMID:27388694"^^xsd:string) "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E77.8"^^xsd:string) AnnotationAssertion( "MESH:C000626124"^^xsd:string) AnnotationAssertion( "MIM:615273"^^xsd:string) AnnotationAssertion( "MONDO:0800044"^^xsd:string) AnnotationAssertion( "NCI:C126746"^^xsd:string) AnnotationAssertion( "ORDO:404454"^^xsd:string) AnnotationAssertion( "CDDG"^^xsd:string) AnnotationAssertion( "CDDG1"^^xsd:string) AnnotationAssertion( "NGLY1-CDDG"^^xsd:string) AnnotationAssertion( "NGLY1-deficiency"^^xsd:string) AnnotationAssertion( "NGLY1-related condition"^^xsd:string) AnnotationAssertion( "deficiency of N-glycanase 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CDG IV"^^xsd:string) AnnotationAssertion( "CDG1V"^^xsd:string) AnnotationAssertion( "CDGIV"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1V"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Iv"^^xsd:string) AnnotationAssertion( "DOID:0060728"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of deglycosylation 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 1) AnnotationAssertion(Annotation( "PMID:11912106"^^xsd:string) Annotation( "PMID:9288096"^^xsd:string) "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:128100"^^xsd:string) AnnotationAssertion( "MESH:C538005"^^xsd:string) AnnotationAssertion( "NCI:C118780"^^xsd:string) AnnotationAssertion( "DYT1"^^xsd:string) AnnotationAssertion( "EOTD"^^xsd:string) AnnotationAssertion( "Early onset torsion dystonia"^^xsd:string) AnnotationAssertion( "Early-Onset Primary Dystonia"^^xsd:string) AnnotationAssertion( "Oppenheim dystonia"^^xsd:string) AnnotationAssertion( "Oppenheim's dystonia"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans 1"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans type 1"^^xsd:string) AnnotationAssertion( "early-onset generalized torsion dystonia"^^xsd:string) AnnotationAssertion( "primary torsion dystonia"^^xsd:string) AnnotationAssertion( "torsion dystonia 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "DYSTONIA 1, TORSION, LATE-ONSET"^^xsd:string) AnnotationAssertion( "DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060730"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital central hypoventilation syndrome) AnnotationAssertion(Annotation( "PMID:11840487"^^xsd:string) Annotation( "PMID:12640453"^^xsd:string) Annotation( "PMID:8135282"^^xsd:string) Annotation( "PMID:8696331"^^xsd:string) "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO)"^^xsd:string) AnnotationAssertion( "GDNF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0020025"^^xsd:string) AnnotationAssertion( "GARD:8535"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.3"^^xsd:string) AnnotationAssertion( "MESH:C536209"^^xsd:string) AnnotationAssertion( "MIM:PS209880"^^xsd:string) AnnotationAssertion( "NCI:C98889"^^xsd:string) AnnotationAssertion( "ORDO:661"^^xsd:string) AnnotationAssertion( "CCHS"^^xsd:string) AnnotationAssertion( "Ondine curse"^^xsd:string) AnnotationAssertion( "Ondine syndrome"^^xsd:string) AnnotationAssertion( "Ondine-Hirschsprung disease"^^xsd:string) AnnotationAssertion( "congenital Ondine curse"^^xsd:string) AnnotationAssertion( "congenital central alveolar hypoventilation syndrome"^^xsd:string) AnnotationAssertion( "congenital central hypoventilation"^^xsd:string) AnnotationAssertion( "congenital failure of autonomic control"^^xsd:string) AnnotationAssertion( "idiopathic congenital central alveolar hypoventilation"^^xsd:string) AnnotationAssertion( "primary alveolar hypoventilation"^^xsd:string) AnnotationAssertion( "OHD"^^xsd:string) AnnotationAssertion( "central hypoventilation syndrome, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060731"^^xsd:string) AnnotationAssertion(rdfs:label "congenital central hypoventilation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 9p deletion syndrome) AnnotationAssertion(Annotation( "PMID:18452192"^^xsd:string) Annotation( "PMID:4541805"^^xsd:string) Annotation( "PMID:6985017"^^xsd:string) "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158170"^^xsd:string) AnnotationAssertion( "MESH:C538024"^^xsd:string) AnnotationAssertion( "ORDO:261112"^^xsd:string) AnnotationAssertion( "9p syndrome"^^xsd:string) AnnotationAssertion( "Alfi syndrome"^^xsd:string) AnnotationAssertion( "Monosomy 9p"^^xsd:string) AnnotationAssertion( "chromosome 9, monosomy 9p"^^xsd:string) AnnotationAssertion( "monosomy 9p syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060732"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 9p deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (junctional epidermolysis bullosa with pyloric atresia) AnnotationAssertion(Annotation( "PMID:16473856"^^xsd:string) Annotation( "PMID:7545057"^^xsd:string) Annotation( "PMID:9185503"^^xsd:string) "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO)"^^xsd:string) AnnotationAssertion( "ITGA6-related condition"^^xsd:string) AnnotationAssertion( "ITGB4-related condition"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.8"^^xsd:string) AnnotationAssertion( "MESH:C535377"^^xsd:string) AnnotationAssertion( "MIM:226730"^^xsd:string) AnnotationAssertion( "MIM:619817"^^xsd:string) AnnotationAssertion( "MONDO:0009183"^^xsd:string) AnnotationAssertion( "NCI:C162474"^^xsd:string) AnnotationAssertion( "ORDO:79403"^^xsd:string) AnnotationAssertion( "Carmi syndrome"^^xsd:string) AnnotationAssertion( "EB-PA"^^xsd:string) AnnotationAssertion( "EB-PA-ACC"^^xsd:string) AnnotationAssertion( "JEB-PA"^^xsd:string) AnnotationAssertion( "JEB5B"^^xsd:string) AnnotationAssertion( "JEB6"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita with gastrointestinal atresia"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis with pyloric atresia"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa with pyloric atresia"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa 5B, with pyloric atresia"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa 6 with pyloric atresia"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa-pyloric atresia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060733"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa with pyloric atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa simplex Dowling-Meara type) AnnotationAssertion(Annotation( "PMID:1372711"^^xsd:string) Annotation( "PMID:1717157"^^xsd:string) Annotation( "PMID:18374450"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1369/"^^xsd:string) "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:79396"^^xsd:string) AnnotationAssertion( "EBS-DM"^^xsd:string) AnnotationAssertion( "EBS-gen sev"^^xsd:string) AnnotationAssertion( "EBSDM"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa herpetiformis Dowling Meara"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa herpetiformis Dowling-Meara type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex, herpetiformis"^^xsd:string) AnnotationAssertion( "generalized severe epidermolysis bullosa simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060735"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex Dowling-Meara type"^^xsd:string) SubClassOf( ) # Class: (epidermolysis bullosa simplex Ogna type) AnnotationAssertion(Annotation( "PMID:11851880"^^xsd:string) "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131950"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.0"^^xsd:string) AnnotationAssertion( "MESH:C535962"^^xsd:string) AnnotationAssertion( "ORDO:79401"^^xsd:string) AnnotationAssertion( "EBS-O"^^xsd:string) AnnotationAssertion( "EBS5A"^^xsd:string) AnnotationAssertion( "EBSOG"^^xsd:string) AnnotationAssertion( "Ebs-Og"^^xsd:string) AnnotationAssertion( "Epidermolysis bullosa simplex 1"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 5A, Ogna type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060736"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex Ogna type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (junctional epidermolysis bullosa Herlitz type) AnnotationAssertion(Annotation( "PMID:18374450"^^xsd:string) Annotation( "PMID:8012393"^^xsd:string) Annotation( "PMID:8586427"^^xsd:string) "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.1"^^xsd:string) AnnotationAssertion( "ORDO:79404"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Letali"^^xsd:string) AnnotationAssertion( "Herlitz-Pearson-type epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "JEB-H"^^xsd:string) AnnotationAssertion( "JEB-Herlitz type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, Herlitz type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa letalis"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa generalisata gravis"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa gravis of Herlitz"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, Herlitz-Pearson type"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, generalized severe"^^xsd:string) AnnotationAssertion( "lethal junctional epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060737"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa Herlitz type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (junctional epidermolysis bullosa non-Herlitz type) AnnotationAssertion(Annotation( "PMID:10792571"^^xsd:string) Annotation( "PMID:11810295"^^xsd:string) Annotation( "PMID:18374450"^^xsd:string) Annotation( "PMID:7550320"^^xsd:string) Annotation( "PMID:7706760"^^xsd:string) "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562639"^^xsd:string) AnnotationAssertion( "ORDO:79402"^^xsd:string) AnnotationAssertion( "ORDO:89840"^^xsd:string) AnnotationAssertion( "JEB-nH gen"^^xsd:string) AnnotationAssertion( "JEN-nH"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, Disentis type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, non-Herlitz type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, severe nonlethal"^^xsd:string) AnnotationAssertion( "generalized junctional epidermolysis bullosa, non-Herlitz type"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa generalisata mitis"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, Disentis type"^^xsd:string) AnnotationAssertion( "progressive epidermolysis bullosa junctionalis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060738"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa non-Herlitz type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hand-foot-genital syndrome) AnnotationAssertion(Annotation( "PMID:5450271"^^xsd:string) Annotation( "PMID:9020844"^^xsd:string) "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:140000"^^xsd:string) AnnotationAssertion( "HOXA13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:2594"^^xsd:string) AnnotationAssertion( "ICD10CM:Q51.2"^^xsd:string) AnnotationAssertion( "MESH:C535627"^^xsd:string) AnnotationAssertion( "ORDO:2438"^^xsd:string) AnnotationAssertion( "HFG"^^xsd:string) AnnotationAssertion( "HFG syndrome"^^xsd:string) AnnotationAssertion( "HFGS"^^xsd:string) AnnotationAssertion( "HFU"^^xsd:string) AnnotationAssertion( "HFU syndrome"^^xsd:string) AnnotationAssertion( "hand-foot-uterus syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060739"^^xsd:string) AnnotationAssertion(rdfs:label "hand-foot-genital syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency) AnnotationAssertion(Annotation( "PMID:1975493"^^xsd:string) Annotation( "PMID:1977311"^^xsd:string) "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.1"^^xsd:string) AnnotationAssertion( "MESH:C565390"^^xsd:string) AnnotationAssertion( "MIM:251000"^^xsd:string) AnnotationAssertion( "MONDO:0009612"^^xsd:string) AnnotationAssertion( "NCI:C148366"^^xsd:string) AnnotationAssertion( "ORDO:27"^^xsd:string) AnnotationAssertion( "MAMM"^^xsd:string) AnnotationAssertion( "MMA due to MCM Deficiency"^^xsd:string) AnnotationAssertion( "MMUT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency"^^xsd:string) AnnotationAssertion( "vitamin B12-unresponsive methylmalonic aciduria"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDURIA DUE TO COMPLETE METHYLMALONYL-COA MUTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, mut type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, mut(-) type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, mut(0) type"^^xsd:string) AnnotationAssertion( "DOID:0060740"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"^^xsd:string) SubClassOf( ) # Class: (methylmalonic acidemia due to transcobalamin receptor defect) AnnotationAssertion(Annotation( "PMID:20524213"^^xsd:string) "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613646"^^xsd:string) AnnotationAssertion( "MONDO:0013341"^^xsd:string) AnnotationAssertion( "NCI:C183527"^^xsd:string) AnnotationAssertion( "ORDO:280183"^^xsd:string) AnnotationAssertion( "MATR"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia, TCblR type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria due to transcobalamin receptor defect"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, transient, due to transcobalamin receptor defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060741"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia due to transcobalamin receptor defect"^^xsd:string) SubClassOf( ) # Class: (methylmalonic acidemia cblA type) AnnotationAssertion(Annotation( "PMID:12438653"^^xsd:string) Annotation( "PMID:5686220"^^xsd:string) "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009073"^^xsd:string) AnnotationAssertion( "MESH:C537360"^^xsd:string) AnnotationAssertion( "MIM:251100"^^xsd:string) AnnotationAssertion( "MONDO:0009613"^^xsd:string) AnnotationAssertion( "NCI:C142171"^^xsd:string) AnnotationAssertion( "ORDO:79310"^^xsd:string) AnnotationAssertion( "MACA"^^xsd:string) AnnotationAssertion( "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A"^^xsd:string) AnnotationAssertion( "MMA due to MCM deficiency"^^xsd:string) AnnotationAssertion( "cblA methylmalonic acidemia"^^xsd:string) AnnotationAssertion( "cobalamin A disease"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia cb1A type"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria (cobalamin deficiency) cblA type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cb1A type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cblA type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060742"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia cblA type"^^xsd:string) SubClassOf( ) # Class: (methylmalonic acidemia cblB type) AnnotationAssertion(Annotation( "PMID:12471062"^^xsd:string) Annotation( "PMID:7213387"^^xsd:string) "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MMAB-related condition"^^xsd:string) AnnotationAssertion( "EFO:0009074"^^xsd:string) AnnotationAssertion( "MESH:C537361"^^xsd:string) AnnotationAssertion( "MIM:251110"^^xsd:string) AnnotationAssertion( "MONDO:0009614"^^xsd:string) AnnotationAssertion( "NCI:C142172"^^xsd:string) AnnotationAssertion( "ORDO:79311"^^xsd:string) AnnotationAssertion( "MACB"^^xsd:string) AnnotationAssertion( "cblB methylmalonic acidemia"^^xsd:string) AnnotationAssertion( "cobalamin B disease"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cblB type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cb1B type"^^xsd:string) AnnotationAssertion( "DOID:0060743"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia cblB type"^^xsd:string) SubClassOf( ) # Class: (Pendred syndrome) AnnotationAssertion(Annotation( "PMID:9398842"^^xsd:string) "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:274600"^^xsd:string) AnnotationAssertion( "SLC26A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SLC26A4-related disorder"^^xsd:string) AnnotationAssertion( "GARD:4271"^^xsd:string) AnnotationAssertion( "ICD10CM:E07.1"^^xsd:string) AnnotationAssertion( "MESH:C536648"^^xsd:string) AnnotationAssertion( "NCI:C121745"^^xsd:string) AnnotationAssertion( "ORDO:705"^^xsd:string) AnnotationAssertion( "Goiter-deafness syndrome"^^xsd:string) AnnotationAssertion( "PDS"^^xsd:string) AnnotationAssertion( "Pendred's syndrome"^^xsd:string) AnnotationAssertion( "TDH2B"^^xsd:string) AnnotationAssertion( "autosomal recessive sensorineural hearing impairment and goiter"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to dyshormonogenesis, 2B"^^xsd:string) AnnotationAssertion( "deafness with goiter"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 2B"^^xsd:string) AnnotationAssertion( "thyroid dyshormonogenesis 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060744"^^xsd:string) AnnotationAssertion(rdfs:label "Pendred syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Doyne honeycomb retinal dystrophy) AnnotationAssertion(Annotation( "PMID:10369267"^^xsd:string) Annotation( "PMID:11384588"^^xsd:string) "A retinal drusen characterized by yellow-white deposits (drusen) that accumulat