format-version: 1.2 data-version: 1.285 date: 03:08:2024 20:13 saved-by: rgd auto-generated-by: --RGD OBO FILE GENERATOR -- build 2023-05-30 -- subsetdef: RGD_JBrowse_slim "RGD_JBrowse_slim" default-namespace: rgd_disease_ontology remark: 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. Wherever possible, DOIDs have been mapped to the previous RDO IDs and RDO IDs (i.e. RDO:xxxxxxx IDs) appear as alternate IDs for the existing terms. ontology: rdo [Term] id: DOID:0001816 name: angiosarcoma def: "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO)" [http://en.wikipedia.org/wiki/Hemangiosarcoma "DO", https://en.wikipedia.org/wiki/Angiosarcoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23327728 "DO"] synonym: "angiosarcomas" EXACT [] synonym: "hemangiosarcoma" EXACT [] synonym: "hemangiosarcomas" EXACT [] synonym: "vascular sarcoma" BROAD [] xref: EFO:0003967 xref: EFO:0003968 xref: ICDO:9120/3 xref: MESH:D006394 xref: NCI:C122783 xref: NCI:C24016 xref: NCI:C3088 xref: NCI:C9275 is_a: DOID:1115 ! sarcoma is_a: DOID:175 ! vascular cancer [Term] id: DOID:0002116 name: pterygium def: "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)" [https://en.wikipedia.org/wiki/Pterygium_(conjunctiva) "DO"] synonym: "pterygiums" EXACT [] synonym: "surfer's eye" EXACT [] xref: EFO:0000678 xref: MESH:D011625 xref: NCI:C133744 is_a: DOID:10124 ! corneal disease [Term] id: DOID:0014667 name: disease of metabolism def: "A disease that involving errors in metabolic processes of building or degradation of molecules. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK22259/ "DO"] synonym: "metabolic disease" EXACT [] synonym: "metabolic diseases" EXACT [] synonym: "metabolic toxicity" NARROW [] synonym: "thesaurismoses" EXACT [] synonym: "thesaurismosis" EXACT [] xref: EFO:0000589 xref: EFO:0011054 xref: ICD10CM:E88.9 xref: ICD9CM:277.9 xref: MESH:D008659 xref: NCI:C3235 is_a: DOID:9008231 ! Nutritional and Metabolic Diseases [Term] id: DOID:0040001 name: shrimp allergy def: "A crustacean allergy that has_allergic_trigger shrimp. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20471069 "DO"] is_a: DOID:0060524 ! crustacean allergy [Term] id: DOID:0040002 name: aspirin allergy def: "A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2468301 "DO"] synonym: "acetylsalicylic acid allergy" EXACT [] synonym: "ASA allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040003 name: benzylpenicillin allergy def: "A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14483916 "DO"] synonym: "benzyl penicillin allergy" EXACT [] synonym: "penicillin G allergy" EXACT [] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040004 name: amoxicillin allergy def: "A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11746950 "DO"] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040005 name: ceftriaxone allergy def: "A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] synonym: "rocephin allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040006 name: carbamazepine allergy def: "A drug allergy that has_allergic_trigger carbamazepine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"] synonym: "carbamazepen allergy" EXACT [] synonym: "tegretol allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040007 name: abacavir allergy alt_id: DOID:9007813 def: "A drug allergy that has_allergic_trigger abacavir. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25674793 "DO"] synonym: "Abacavir Hypersensitivity" EXACT [] synonym: "ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO" RELATED [] synonym: "ABC allergy" EXACT [] xref: MIM:142830 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040008 name: isoniazide allergy def: "A drug allergy that has_allergic_trigger isoniazide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "INH allergy" EXACT [] synonym: "isonicotinylhydrazide allergy" EXACT [] xref: ICD10CM:Z88.1 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040009 name: lidocaine allergy def: "A drug allergy that has_allergic_trigger lidocaine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9013953 "DO"] synonym: "lidoderm allergy" EXACT [] synonym: "lignocaine allergy" EXACT [] synonym: "xylocaine allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040010 name: mepivacaine allergy def: "A drug allergy that has_allergic_trigger mepivacaine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9989796 "DO"] synonym: "carbocaine allergy" EXACT [] synonym: "polocaine allergy" EXACT [] xref: ICD10CM:Z88.4 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040011 name: phenobarbital allergy def: "A drug allergy that has_allergic_trigger phenobarbital. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11994495 "DO"] synonym: "luminal allergy" EXACT [] synonym: "phenobarbitol allergy" EXACT [] synonym: "phenobarbitone allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040012 name: phenytoin allergy def: "A drug allergy that has_allergic_trigger phenytoin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"] synonym: "dilantin allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040013 name: ranitidine allergy def: "A drug allergy that has_allergic_trigger ranitidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7782125 "DO"] synonym: "zantac allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040014 name: corticosteroid allergy def: "A drug allergy that has_allergic_trigger corticosteroid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2265088 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040015 name: sulfonamide allergy def: "A drug allergy that has_allergic_trigger sulfonamide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2434548 "DO"] xref: ICD10CM:Z88.9 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040016 name: sulfamethoxazole allergy def: "A drug allergy that has_allergic_trigger sulfamethoxazole. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"] synonym: "SMX allergy" EXACT [] synonym: "SMZ allergy" EXACT [] synonym: "sulphamethoxazole allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040017 name: suprofen allergy def: "A drug allergy that has_allergic_trigger suprofen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/509935 "DO"] synonym: "Profenal allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040018 name: thiopental allergy def: "A drug allergy that has_allergic_trigger thiopental. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] synonym: "penthiobarbital allergy" EXACT [] synonym: "pentothiobarbital allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040019 name: D-mannitol allergy def: "A drug allergy that has_allergic_trigger D-mannitol. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15479277 "DO"] synonym: "mannitol allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040020 name: cefotaxime allergy def: "A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040021 name: cephalosporin allergy def: "A drug allergy that has_allergic_trigger cephalosporin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2083978 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040022 name: amodiaquine allergy def: "A drug allergy that has_allergic_trigger amodiaquine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1959977 "DO"] synonym: "Camoquin allergy" EXACT [] synonym: "Flavoquine allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040023 name: cefaclor allergy def: "A cephalosporin allergy that has_allergic_trigger cefaclor. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12569987 "DO"] synonym: "ceclor allergy" EXACT [] synonym: "cephaclor allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040024 name: ceftazidime allergy def: "A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] synonym: "Fortaz allergy" EXACT [] synonym: "Tazicef allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040025 name: cefuroxime allergy def: "A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] synonym: "cephuroxime allergy" EXACT [] synonym: "Zinacef allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040026 name: chlorhexidine allergy def: "A drug allergy that has_allergic_trigger chlorhexidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10848923 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040027 name: cyclophosphamide allergy def: "A drug allergy that has_allergic_trigger cyclophosphamide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8024619 "DO"] synonym: "cytophosphane allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040028 name: succinylcholine allergy def: "A drug allergy that has_allergic_trigger succinylcholine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2410473 "DO"] synonym: "dicholine succinate allergy" EXACT [] synonym: "succinocholine allergy" EXACT [] synonym: "sux allergy" EXACT [] synonym: "suxamethonium allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040029 name: trimethoprim allergy def: "A drug allergy that has_allergic_trigger trimethoprim. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3377143 "DO"] synonym: "Primsol allergy" EXACT [] synonym: "proloprim allergy" EXACT [] synonym: "TMP allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040030 name: cefixime allergy def: "A cephalosporin allergy that has_allergic_trigger cefixime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16867046 "DO"] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040031 name: diclofenac allergy def: "A drug allergy that has_allergic_trigger diclofenac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21060839 "DO"] synonym: "Voltaren allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040032 name: carbapenem allergy def: "A drug allergy that has_allergic_trigger carbapenems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2457043 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040033 name: piperacillin allergy def: "A beta-lactam allergy that has_allergic_trigger piperacillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21532862 "DO"] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040034 name: rocuronium allergy def: "A drug allergy that has_allergic_trigger rocuronium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17667569 "DO"] synonym: "Esmeron allergy" EXACT [] synonym: "Zemuron allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040035 name: sulfasalazine allergy def: "A drug allergy that has_allergic_trigger sulfasalazine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2434548 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040036 name: tubocurarine allergy def: "A drug allergy that has_allergic_trigger tubocurarine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] synonym: "DTC allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040037 name: aztreonam allergy def: "A beta-lactam allergy that has_allergic_trigger aztreonam. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1991925 "DO"] synonym: "Azactam allergy" EXACT [] synonym: "Primbactam allergy" EXACT [] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040038 name: meropenem allergy def: "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23668298 "DO"] synonym: "Merrem allergy" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040040 name: hexamethylene diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8711735 "DO"] synonym: "allergic asthma to HDI" EXACT [] synonym: "allergic asthma to HMDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040041 name: isocyanates allergic asthma def: "An allergic asthma that has_allergic_trigger isocyanates. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3349596 "DO"] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040042 name: diphenylmethane-4,4'-diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8711735 "DO"] synonym: "allergic asthma to MDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040043 name: toluene meta-diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11289402 "DO"] synonym: "allergic asthma to TDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040044 name: methyl isocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3622432 "DO"] synonym: "allergic asthma to MIC" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040045 name: nickel allergic asthma def: "An allergic asthma that has_allergic_trigger nickel atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6691936 "DO"] synonym: "allergic asthma to Ni" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040046 name: nickel allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7671317 "DO"] synonym: "allergic contact dermatitis to Ni" EXACT [] synonym: "contact dermatitis due to nickel" NARROW [] xref: EFO:0005320 xref: ICD10CM:L23.0 is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040047 name: trimellitic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6643876 "DO"] synonym: "allergic asthma to TMA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040048 name: phthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger phthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040049 name: maleic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger maleic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"] synonym: "allergic asthma to MA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040050 name: tetrachlorophthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040051 name: hexahydrophthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4008795 "DO"] synonym: "allergic asthma to HHPA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040052 name: diphenylmethane-4,4'-diisocyanate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6296214 "DO"] synonym: "allergic contact dermatitis to MDI" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040053 name: cobalt allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8566016 "DO"] synonym: "allergic contact dermatitis to Co" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040054 name: cobalt allergic asthma def: "An allergic asthma that has_allergic_trigger cobalt atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7444839 "DO"] synonym: "Co allergic asthma" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040055 name: palladium allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger palladium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25097477 "DO"] synonym: "allergic contact dermatitis to Pd" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040056 name: chromium allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1108802 "DO"] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040057 name: benzoic acid allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25097477 "DO"] synonym: "allergic contact dermatitis to benzoate" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040058 name: 1,4-phenylenediamine allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8400900 "DO"] synonym: "allergic contact dermatitis to PPD" EXACT [] synonym: "allergic contact dermatitis to p-phenylenediamine" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040059 name: potassium dichromate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15462465 "DO"] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040060 name: ketoprofen photoallergic dermatitis def: "A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11169173 "DO"] synonym: "photoallergic dermatitis to orudis" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:3818 ! photoallergic dermatitis [Term] id: DOID:0040061 name: remazole black respiratory allergy def: "A respiratory allergy that has_allergic_trigger remazole black-GR. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2312995 "DO"] synonym: "respiratory allergy to Reactive Black 5" EXACT [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040062 name: chloramine T respiratory allergy def: "A respiratory allergy that has_allergic_trigger chloramine T. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2758361 "DO"] synonym: "respiratory allergy to Chloraseptin" EXACT [] synonym: "respiratory allergy to Chlorazol" EXACT [] synonym: "respiratory allergy to Trichlorol" EXACT [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040063 name: 4-vinylcyclohexene dioxide respiratory allergy def: "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3356477 "DO"] synonym: "respiratory allergy to vinyl cyclohexene diepoxide" EXACT [] is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040064 name: carvone allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11380545 "DO"] synonym: "allergic contact dermatitis to levo-carvone" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040065 name: quinidine allergy def: "A drug allergy that has_allergic_trigger quinidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "Kinidin allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040066 name: melphalan allergy def: "A drug allergy that has_allergic_trigger melphalan. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "Alkeran allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040067 name: neomycin sulfate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21616561 "DO"] synonym: "allergic contact dermatitis to neomycin sulphate" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040068 name: 4-tert-butylphenol allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8462290 "DO"] synonym: "allergic contact dermatitis to butylphen" EXACT [] synonym: "allergic contact dermatitis to PTBP" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040069 name: 1-chloro-2,4-dinitrobenzene allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17008874 "DO"] synonym: "allergic contact dermatitis to dinitrochlorobenzene" EXACT [] synonym: "allergic contact dermatitis to DNCB" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040070 name: co-trimoxazole allergy def: "A drug allergy that has_allergic_trigger co-trimoxazole. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "Bactrim allergy" EXACT [] synonym: "cotrimoxazol allergy" EXACT [] synonym: "TMP/SMX allergy" EXACT [] synonym: "trimethoprim/sulfamethoxazole allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040071 name: sodium aurothiomalate allergy def: "A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "gold sodium thiomalate allergy" EXACT [] is_a: DOID:0060500 ! drug allergy created_by: rgd creation_date: 2016-06-14T12:24:56Z [Term] id: DOID:0040072 name: parthenolide allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17986299 "DO"] synonym: "allergic contact dermatitis to feverfew" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040073 name: disodium cromoglycate allergy def: "A drug allergy that has_allergic_trigger disodium cromoglycate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3128591 "DO"] synonym: "DSCG allergy" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040074 name: formaldehyde allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7902023 "DO"] synonym: "allergic contact dermatitis to formalin" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040075 name: benzo[d]isothiazol-3-one allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6446435 "DO"] synonym: "allergic contact dermatitis to benzisothiazolone" EXACT [] synonym: "allergic contact dermatitis to BIT" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040076 name: phthalyl group allergy def: "A drug allergy that has_allergic_trigger phthalyl group. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7400667 "DO"] synonym: "phthalyl allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040077 name: alcuronium bromide allergy def: "A drug allergy that has_allergic_trigger alcuronium bromide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040078 name: gallamine allergy def: "A drug allergy that has_allergic_trigger gallamine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040079 name: 2,4-dinitrophenyl allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17008874 "DO"] synonym: "allergic contact dermatitis to DNP" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040080 name: patent blue V allergy def: "A drug allergy that has_allergic_trigger patent blue V. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19804438 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040081 name: acid anhydride respiratory allergy def: "A respiratory allergy that has_allergic_trigger acid anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6643876 "DO"] is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040082 name: oxirane allergy def: "A drug allergy that has_allergic_trigger oxirane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3932500 "DO"] synonym: "ethylene oxide allergy" EXACT [] synonym: "ETO allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040083 name: Chlamydia pneumonia def: "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16831205 "DO"] synonym: "Chlamydial Pneumonia" EXACT [] synonym: "Chlamydial Pneumonias" EXACT [] synonym: "chlamydophila pneumonia" EXACT [] synonym: "chlamydophila pneumonias" EXACT [] xref: ICD10CM:J16.0 xref: ICD9CM:483.1 xref: MESH:D061387 is_a: DOID:11263 ! chlamydia is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9008527 ! Chlamydophila Infections [Term] id: DOID:0040084 name: Streptococcus pneumonia def: "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26396191 "DO"] xref: EFO:0007499 xref: ICD10CM:J13 xref: ICD9CM:481 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:0040085 name: bacterial sepsis def: "A bacterial infectious disease has_material_basis_in Bacteria. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20421654 "DO"] xref: EFO:0003033 xref: ICD9CM:995.91 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9004484 ! Sepsis [Term] id: DOID:0040086 name: polyomavirus-associated nephropathy def: "A viral infectious disease has_material_basis_in BK polyomavirus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16537617 "DO"] synonym: "PVAN" EXACT [] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:0040087 name: autoimmune peripheral neuropathy def: "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7693874 "DO"] is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system [Term] id: DOID:0040088 name: autoimmune uveitis def: "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12938234 "DO"] is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:13141 ! uveitis [Term] id: DOID:0040089 name: autoimmune optic neuritis def: "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7516573 "DO"] is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:1210 ! optic neuritis [Term] id: DOID:0040090 name: autoimmune gastritis def: "An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12645953 "DO"] is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:76 ! stomach disease [Term] id: DOID:0040091 name: autoimmune pancreatitis def: "An autoimmune disease of endocrine system that is located_in the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19940298 "DO"] synonym: "Idiopathic Duct-centric Pancreatitis" EXACT [] synonym: "IgG4-related Pancreatitis" EXACT [] synonym: "type 1 AIP" NARROW [] synonym: "Type 1 Autoimmune Pancreatitis" NARROW [] synonym: "type 2 AIP" NARROW [] synonym: "Type 2 Autoimmune Pancreatitis" NARROW [] xref: EFO:1000780 xref: MESH:D000081012 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:9006190 ! Chronic Pancreatitis [Term] id: DOID:0040092 name: juvenile ankylosing spondylitis def: "An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7541736 "DO"] xref: ICD10CM:M08.1 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0040093 name: drug-induced lupus erythematosus def: "A lupus erythematosus caused by chronic use of certain drugs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1378852 "DO"] synonym: "DIL" EXACT [] synonym: "DILE" EXACT [] xref: ICD10CM:M32.0 xref: NCI:C114354 xref: ORDO:231111 is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:0040094 name: autoimmune glomerulonephritis def: "An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8809141 "DO"] is_a: DOID:0060049 ! autoimmune disease of urogenital tract [Term] id: DOID:0040095 name: autoimmune cardiomyopathy def: "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10762456 "DO"] is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:114 ! heart disease [Term] id: DOID:0040096 name: autoimmune atherosclerosis def: "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17097662 "DO"] is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0040097 name: autoimmune vasculitis def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23549081 "DO"] is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0040098 name: pemphigus gestationis def: "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16552711 "DO"] xref: EFO:1000709 xref: ICD10CM:O26.4 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0040099 name: livedoid vasculitis def: "A vasculitis with purpuric ulcers. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10925314 "DO"] synonym: "Idiopathic Atrophic Blanche" EXACT [] synonym: "livedoid vasculopathy" EXACT [] synonym: "livedo reticularis with summer ulceration" EXACT [] synonym: "Livedo Vasculitis" EXACT [] synonym: "White Atrophy" EXACT [] xref: ICD10CM:L95.0 xref: MESH:D000090122 is_a: DOID:0060903 ! thrombosis is_a: DOID:865 ! vasculitis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:0040100 name: Hirata disease def: "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10445096 "DO"] synonym: "insulin autoimmune syndrome" EXACT [] is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:225 ! syndrome is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0040101 name: N,N'-diphenylthiourea allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28295200 "DO"] synonym: "neoprene allergy" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040102 name: N,N'-diethylthiourea allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28295200 "DO"] synonym: "neoprene allergy" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis created_by: rgd creation_date: 2018-06-20T00:00:00Z [Term] id: DOID:0040103 name: cefotiam allergy def: "A cephalosporin allergy that has_allergic_trigger cefotiam. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28543395 "DO"] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040104 name: toluene 2,4-diisocyanate allergic asthma def: "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ "DO"] is_a: DOID:0040043 ! toluene meta-diisocyanate allergic asthma [Term] id: DOID:0050004 name: seminal vesicle acute gonorrhea def: "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)" [https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation "DO"] xref: RDO:9004909 is_a: DOID:10400 ! gonococcal seminal vesiculitis created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050012 name: chikungunya def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO)" [http://en.wikipedia.org/wiki/Chikungunya_virus "DO"] synonym: "chikungunya fever" EXACT [] synonym: "Chikungunya Fevers" EXACT [] synonym: "Chikungunya Virus Infection" EXACT [] synonym: "Chikungunya Virus Infections" EXACT [] xref: GARD:6038 xref: MESH:D065632 is_a: DOID:9007339 ! Alphavirus Infections [Term] id: DOID:0050025 name: human granulocytic anaplasmosis def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/25999228 "DO"] synonym: "HGE" EXACT [] synonym: "human granulocytic ehrlichiosis" EXACT [] xref: EFO:0000777 is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050026 name: human monocytic ehrlichiosis def: "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)" [https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/ "DO"] synonym: "Ehrlichiosis chafeensis" RELATED [] xref: GARD:72 is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050032 name: mineral metabolism disease def: "An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)" [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html "DO"] xref: EFO:0009556 xref: RDO:9003951 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:0060158 ! acquired metabolic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050035 name: African tick-bite fever def: "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)" [http://jcm.asm.org/cgi/reprint/42/2/816 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia africae spotted fever" EXACT [] synonym: "South African tick-bite fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050041 name: Astrakhan spotted fever def: "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)" [http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050042 name: Indian tick typhus def: "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)" [http://www.biomedcentral.com/1471-2180/5/11 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050043 name: Israeli tick typhus def: "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)" [http://www.biomedcentral.com/1471-2180/5/11 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Israeli spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050046 name: Far Eastern spotted fever def: "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)" [http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia heilongjiangensis spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050047 name: Flinders Island spotted fever def: "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)" [https://www.cdc.gov/otherspottedfever/imported/index.html "DO"] synonym: "FISF" EXACT [] synonym: "Thai tick typhus" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050050 name: Japanese spotted fever def: "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)" [http://www.cdc.gov/otherspottedfever/index.html "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf "DO"] synonym: "oriental spotted fever" EXACT [] synonym: "Rickettsia japonica spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:0050051 name: Rickettsia parkeri spotted fever def: "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)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "maculatum infection" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050052 name: Rocky Mountain spotted fever def: "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)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Brazilian spotted" RELATED [] synonym: "Choix" RELATED [] synonym: "Exanthematic typhus of Sao Paulo" RELATED [] synonym: "Fiebre maculosa" RELATED [] synonym: "Fiebre manchada" RELATED [] synonym: "Sao Paulo Typhus" EXACT [] synonym: "So Paulo fever" RELATED [] synonym: "Tick typhus" EXACT [] synonym: "Tobia fever" RELATED [] xref: GARD:7585 xref: MESH:D012373 is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050059 name: oropharyngeal anthrax def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/3934300 "DO"] is_a: DOID:13386 ! gastrointestinal anthrax [Term] id: DOID:0050061 name: erysipeloid def: "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)" [https://en.wikipedia.org/wiki/Erysipeloid "DO"] synonym: "erysipeloids" EXACT [] synonym: "Erysipelothrix rhusiopathiae infectious disease" EXACT [] xref: EFO:1000928 xref: MESH:D004887 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9006691 ! Erysipelothrix Infections [Term] id: DOID:0050072 name: adiaspiromycosis def: "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)" [http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract "DO"] xref: MESH:C000656784 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:37 ! skin disease is_a: DOID:9005724 ! Fungal Lung Diseases created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050073 name: invasive aspergillosis def: "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)" [http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm "DO"] synonym: "Aspergilloses, Lung" EXACT [] synonym: "Bronchopulmonary Aspergillose" EXACT [] synonym: "Bronchopulmonary Aspergilloses" EXACT [] synonym: "Bronchopulmonary Aspergillosis" EXACT [] synonym: "Lung Aspergillosis" EXACT [] synonym: "pulmonary aspergilloses" EXACT [] synonym: "pulmonary aspergillosis" EXACT [] xref: MESH:D055732 is_a: DOID:13564 ! aspergillosis [Term] id: DOID:0050083 name: Keshan disease def: "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO)" [https://en.wikipedia.org/wiki/Keshan_disease "DO"] xref: GARD:8761 xref: MESH:C536166 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:0050096 name: tinea barbae def: "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)" [https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae "DO"] synonym: "barber's itch" EXACT [] synonym: "beard ringworm" EXACT [] synonym: "dermatophytosis of beard" EXACT [] xref: MESH:C000656825 is_a: DOID:8913 ! dermatophytosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050097 name: ectothrix infectious disease def: "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)" [https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis "DO"] is_a: DOID:4337 ! tinea capitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050105 name: endothrix infectious disease def: "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)" [http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ "DO"] is_a: DOID:4337 ! tinea capitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050116 name: tinea imbricata def: "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)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata "DO"] synonym: "tinea imbricata, susceptibility to" RELATED [] xref: MIM:275240 is_a: DOID:12179 ! tinea corporis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050117 name: disease by infectious agent def: "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)" [http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726 "DO"] synonym: "communicable disease" EXACT [] synonym: "communicable diseases" EXACT [] synonym: "infection" EXACT [] synonym: "infections" EXACT [] synonym: "infectious disease" EXACT [] synonym: "infectious diseases" EXACT [] synonym: "recurrent infections" NARROW [] xref: EFO:0000544 xref: EFO:0005741 xref: ICD9CM:079.0 xref: MESH:D003141 xref: MESH:D007239 is_a: DOID:4 ! disease [Term] id: DOID:0050118 name: La Crosse encephalitis def: "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)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"] synonym: "California encephalitis" EXACT [] synonym: "California viral encephalitides" EXACT [] synonym: "California viral encephalitis" EXACT [] synonym: "California virus encephalitis" EXACT [] synonym: "neuroinvasive California encephalitis virus infection" EXACT [] xref: ICD10CM:A83.5 xref: ICD9CM:062.5 xref: MESH:D004670 is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:0050120 name: hemophagocytic lymphohistiocytosis def: "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)" [http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis "DO", http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso "DO"] synonym: "haemophagocytic syndrome" EXACT [] synonym: "hemophagocytic lymphohistiocytoses" EXACT [] synonym: "hemophagocytic syndrome" EXACT [] synonym: "hemophagocytic syndromes" EXACT [] synonym: "HPLH" EXACT [] synonym: "HPS" EXACT [] synonym: "infection-associated hemophagocytic syndrome" EXACT [] synonym: "primary hemophagocytic hymphohistiocytosis" EXACT [] synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [] synonym: "reactive hemophagocytic syndrome" EXACT [] xref: GARD:6589 xref: ICD10CM:D76.1 xref: MESH:D051359 xref: MIM:PS267700 xref: NCI:C34792 xref: ORDO:540 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:0050125 name: dengue shock syndrome def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), 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)" [http://en.wikipedia.org/wiki/Dengue_shock_syndrome "DO"] synonym: "DSS" EXACT [] is_a: DOID:12206 ! dengue hemorrhagic fever is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050127 name: sinusitis def: "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)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null "DO"] synonym: "Sinusitides" EXACT [] xref: EFO:0007486 xref: ICD10CM:J01 xref: ICD9CM:461 xref: MESH:D012852 xref: NCI:C128411 is_a: DOID:1352 ! paranasal sinus disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:0050129 name: secretory diarrhea def: "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)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050130 name: osmotic diarrhea def: "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)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050131 name: motility-related diarrhea def: "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)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050132 name: inflammatory diarrhea def: "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)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] xref: RDO:9002488 is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050133 name: superficial mycosis def: "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)" [http://en.wikipedia.org/wiki/Mycoses "DO", http://www.mycology.adelaide.edu.au/Mycoses/ "DO"] synonym: "piedra" EXACT [] synonym: "piedras" EXACT [] synonym: "steroid-modified tinea infection" EXACT [] xref: ICD10CM:B36.9 xref: MESH:D010854 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:421 ! hair disease [Term] id: DOID:0050134 name: cutaneous mycosis def: "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)" [http://en.wikipedia.org/wiki/Mycoses "DO", http://jama.ama-assn.org/cgi/reprint/61/6/407 "DO"] is_a: DOID:1564 ! fungal infectious disease is_a: DOID:16 ! integumentary system disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050135 name: subcutaneous mycosis def: "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)" [https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses "DO"] xref: MONDO:0000255 is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050136 name: systemic mycosis def: "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)" [http://dermnetnz.org/fungal/systemic-mycoses.html "DO", http://www.mycology.adelaide.edu.au/Mycoses/ "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 "DO"] is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050138 name: podoconiosis def: "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)" [https://en.wikipedia.org/wiki/Podoconiosis "DO"] synonym: "mossy foot" EXACT [] synonym: "non-filarial elephantiasis" EXACT [] synonym: "PDCOS" EXACT [] synonym: "podoconioses" EXACT [] xref: EFO:0004712 xref: MIM:614590 is_a: DOID:4976 ! elephantiasis [Term] id: DOID:0050140 name: acute diarrhea def: "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)" [http://en.wikipedia.org/wiki/Diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050141 name: intestinal botulism def: "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)" [http://www.who.int/mediacentre/factsheets/fs270/en/ "DO", https://jnnp.bmj.com/content/75/suppl_3/iii35 "DO"] is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050143 name: asymptomatic dengue def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28107858/ "DO", https://pubmed.ncbi.nlm.nih.gov/29111183/ "DO"] is_a: DOID:12205 ! dengue disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050144 name: Kartagener syndrome def: "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)" [http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797 "DO", http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19529061 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23243352 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24019633 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25633235 "DO"] synonym: "dextrocardia, bronchiectasis, and sinusitis" EXACT [] synonym: "immotile cilia syndrome, Kartagener type" EXACT [] synonym: "Kartagener's syndrome" EXACT [] synonym: "Kartagener's Triad" EXACT [] synonym: "Kartageners syndrome" EXACT [] synonym: "Kartageners triad" EXACT [] synonym: "Kartagener triad" EXACT [] synonym: "primary ciliary dyskinesia, Kartagener type" EXACT [] synonym: "Siewert syndrome" EXACT [] xref: EFO:1001352 xref: GARD:6815 xref: MESH:D007619 xref: NCI:C84797 xref: ORDO:98861 is_a: DOID:9007870 ! Respiratory System Abnormalities is_a: DOID:9562 ! primary ciliary dyskinesia is_a: DOID:9563 ! bronchiectasis is_a: DOID:9565 ! dextrocardia [Term] id: DOID:0050145 name: adenoiditis def: "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)" [http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false "DO", http://en.wikipedia.org/wiki/Adenoiditis "DO"] synonym: "chronic adenoiditis" EXACT [] xref: ICD10CM:J35.02 xref: ICD9CM:474.01 xref: RDO:9004975 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050147 name: otomycosis def: "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)" [http://en.wikipedia.org/wiki/Otomycosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis "DO"] synonym: "otomycoses" EXACT [] synonym: "Singapore ear" EXACT [] xref: MESH:D059249 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:9463 ! otitis externa [Term] id: DOID:0050148 name: laryngotracheitis def: "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)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis "DO"] xref: ICD10CM:J04 xref: ICD10CM:J37.1 xref: ICD9CM:464 xref: ICD9CM:476.1 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050150 name: Pontiac fever def: "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)" [http://www.cdc.gov/legionella/patient_facts.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/623097 "DO"] is_a: DOID:10458 ! legionellosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050152 name: aspiration pneumonia def: "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)" [https://en.wikipedia.org/wiki/Aspiration_pneumonia "DO"] synonym: "Acid Aspiration Syndrome" EXACT [] synonym: "acid aspiration syndromes" EXACT [] synonym: "Aspiration Pneumonias" EXACT [] synonym: "Gastric Acid Aspiration Syndrome" EXACT [] synonym: "Mendelson's Syndrome" EXACT [] synonym: "Mendelsons Syndrome" EXACT [] synonym: "Mendelson syndrome" EXACT [] xref: MESH:D011015 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:0050153 name: pulmonary aspergilloma def: "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)" [http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm "DO"] xref: EFO:1001834 xref: RDO:9002381 is_a: DOID:0050073 ! invasive aspergillosis created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:0050155 name: sensory system disease alt_id: DOID:9003045 def: "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)" [http://en.wikipedia.org/wiki/Sensory_system "DO"] synonym: "disturbances of sensation of smell and taste" NARROW [] synonym: "Sensation Disorder" EXACT [] synonym: "Sensation Disorders" EXACT [] synonym: "Sensory Disorder" EXACT [] synonym: "Sensory Disorders" EXACT [] synonym: "sensory system diseases" EXACT [] synonym: "Special Senses Disorder" EXACT [] synonym: "Special Senses Disorders" EXACT [] xref: EFO:0001058 xref: EFO:0009543 xref: MESH:D012678 is_a: DOID:4 ! disease is_a: DOID:863 ! nervous system disease is_a: DOID:9003814 ! Neurologic Manifestations created_by: rgd creation_date: 2017-04-18T00:00:00Z [Term] id: DOID:0050156 name: idiopathic pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32855221/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK448162/ "DO", https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis "DO", https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf "DO"] synonym: "cryptogenic fibrosing alveolitides" EXACT [] synonym: "cryptogenic fibrosing alveolitis" EXACT [] synonym: "familial idiopathic pulmonary fibrosis" EXACT [] synonym: "fibrocystic pulmonary dysplasia" EXACT [] synonym: "fibrocystic pulmonary dysplasias" EXACT [] synonym: "Hamman Rich disease" NARROW [] synonym: "Hamman-Rich diseases" NARROW [] synonym: "Idiopathic Fibrosing Alveolitis, Chronic Form" EXACT [] synonym: "idiopathic pulmonary fibroses" EXACT [] synonym: "idiopathic pulmonary fibrosis, susceptibility to" RELATED [] synonym: "IPF" EXACT [] synonym: "UIP Hamman Rich disease" NARROW [] synonym: "usual interstitial pneumonia" RELATED [] synonym: "usual interstitial pneumonias" RELATED [] synonym: "usual interstitial pneumonitides" RELATED [] synonym: "usual interstitial pneumonitis" RELATED [] xref: EFO:0000768 xref: GARD:8609 xref: ICD10CM:J84.112 xref: ICD9CM:516.31 xref: MESH:D054990 xref: MIM:178500 xref: NCI:C35715 xref: NCI:C35716 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3770 ! pulmonary fibrosis [Term] id: DOID:0050157 name: cryptogenic organizing pneumonia def: "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)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"] synonym: "BOOP" EXACT [] synonym: "bronchiolitis obliterans organising pneumonia" EXACT [] synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [] synonym: "cryptogenic organising pneumonia" EXACT [] synonym: "Cryptogenic organising pneumonitis" EXACT [] synonym: "Cryptogenic Organizing Pneumonias" EXACT [] synonym: "cryptogenic organizing pneumonitis" EXACT [] synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT [] synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [] xref: EFO:1001300 xref: GARD:1620 xref: ICD10CM:J84.116 xref: ICD9CM:516.36 xref: MESH:D018549 xref: NCI:C62586 is_a: DOID:2797 ! idiopathic interstitial pneumonia is_a: DOID:9003073 ! Organizing Pneumonia [Term] id: DOID:0050158 name: desquamative interstitial pneumonia alt_id: MIM:263000 def: "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)" [http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288 "DO", http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16142185 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16456642 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23001799 "DO"] synonym: "DIP" EXACT [] synonym: "familial desquamative interstitial pneumonia" EXACT [] synonym: "familial desquamative interstitial pneumonitis" EXACT [] synonym: "ILD, DESQUAMATIVE" EXACT [] synonym: "Interstitial Lung Disease, Desquamative" EXACT [] synonym: "RBILD" EXACT [] synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [] xref: ICD10CM:J84.117 xref: ICD9CM:516.37 xref: MESH:C562470 xref: NCI:C35288 is_a: DOID:2797 ! idiopathic interstitial pneumonia is_a: DOID:3082 ! interstitial lung disease is_a: DOID:630 ! genetic disease [Term] id: DOID:0050159 name: lymphoid interstitial pneumonia def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"] synonym: "lymphocytic interstitial pneumonia" EXACT [] synonym: "lymphocytic interstitial pneumonitis" EXACT [] xref: ICD10CM:J84.2 xref: MESH:C562489 xref: MIM:247610 xref: MONDO:0009537 xref: NCI:C27558 xref: ORDO:79128 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:0050160 name: inhalation anthrax def: "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)" [https://medlineplus.gov/ency/article/001325.htm "DO", https://www.cdc.gov/anthrax/basics/types/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/11988441 "DO"] synonym: "pulmonary anthrax" EXACT [] synonym: "respiratory anthrax" EXACT [] synonym: "wool-sorters' disease" EXACT [] synonym: "woolsorters' disease" EXACT [] xref: MESH:C571912 is_a: DOID:7427 ! anthrax disease [Term] id: DOID:0050161 name: lower respiratory tract disease def: "A respiratory system disease which involves the lower respiratory tract. (DO)" [http://en.wikipedia.org/wiki/lower_respiratory_tract "DO"] xref: EFO:0009433 xref: RDO:9004972 is_a: DOID:1579 ! respiratory system disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050166 name: tuberculous salpingitis def: "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO)" [http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false "DO"] xref: ICD10CM:A18.17 xref: ICD9CM:016.6 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:0050167 name: autoimmune polyendocrine syndrome type 1 alt_id: MIM:240300 def: "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)" [https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 "DO"] synonym: "APS1" EXACT [] synonym: "APS I" EXACT [] synonym: "APS type 1" EXACT [] synonym: "autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia" EXACT [] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type 1" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type I" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type I, autosomal dominant" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia" EXACT [] synonym: "autoimmune polyglandular syndrome I" EXACT [] synonym: "autoimmune polyglandular syndrome type 1" EXACT [] synonym: "autoimmune polyglandular syndrome type I" EXACT [] synonym: "hypoadrenocorticism with hypoparathyroidism and superficial moniliasis" EXACT [] synonym: "PGA I" EXACT [] synonym: "polyglandular deficiency syndrome, Persian-Jewish type" NARROW [] synonym: "Whitaker syndrome" EXACT [] xref: GARD:8466 xref: MESH:C538275 is_a: DOID:14040 ! autoimmune polyendocrine syndrome [Term] id: DOID:0050168 name: autoimmune polyendocrine syndrome type 2 def: "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)" [http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 "DO"] synonym: "APS2" EXACT [] synonym: "autoimmune polyendocrine syndrome type II" EXACT [] synonym: "autoimmune polyglandular syndrome type II" EXACT [] synonym: "multiple endocrine deficiency syndrome, type 2" EXACT [] synonym: "polyglandular autoimmune syndrome, type 2" EXACT [] synonym: "polyglandular deficiency syndrome, type 2" EXACT [] synonym: "Schmidt's syndrome" EXACT [] synonym: "Schmidt syndrome" EXACT [] xref: GARD:7611 xref: MIM:269200 is_a: DOID:14040 ! autoimmune polyendocrine syndrome created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050169 name: cutaneous lupus erythematosus def: "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/ "DO"] synonym: "subacute cutaneous lupus erythematosus" EXACT [] xref: EFO:0003834 xref: GARD:6225 xref: MESH:D008178 xref: MONDO:0005282 is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:0050174 name: Kunjin encephalitis def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, 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)" [http://www.ncbi.nlm.nih.gov/sites/entrez/2552010 "DO", https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx "DO"] is_a: DOID:2365 ! West Nile encephalitis [Term] id: DOID:0050175 name: tick-borne encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm "DO"] synonym: "Central European Encephalitis" EXACT [] synonym: "European Tick-Borne Encephalitides" EXACT [] synonym: "European Tick Borne Encephalitis" EXACT [] synonym: "Far Eastern Russian Encephalitis" EXACT [] synonym: "Far Eastern TBE" EXACT [] synonym: "Louping Ill Encephalitides" EXACT [] synonym: "Louping Ill Encephalitis" EXACT [] synonym: "Russian Spring Summer Encephalitis" EXACT [] synonym: "Siberian tick-borne encephalitis" EXACT [] synonym: "taiga encephalitis" EXACT [] synonym: "Tick-Borne Encephalitides" EXACT [] synonym: "Western European tick-borne encephalitis" EXACT [] synonym: "west-Siberian encephalitis" EXACT [] xref: EFO:1001309 xref: GARD:5216 xref: ICD10CM:A84.1 xref: ICD9CM:063.2 xref: MESH:D004675 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:0050177 name: monogenic disease def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)" [https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders "DO"] is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050179 name: Powassan encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, 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)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732952/ "DO"] synonym: "Powassan Encephalitides" EXACT [] xref: RDO:9002648 is_a: DOID:0050175 ! tick-borne encephalitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050185 name: erythema multiforme def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm "DO"] xref: EFO:1000694 xref: GARD:6372 xref: MESH:D004892 is_a: DOID:1205 ! allergic disease is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9006976 ! Erythema [Term] id: DOID:0050192 name: Nipah virus encephalitis def: "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)" [https://www.cdc.gov/vhf/nipah/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/19141846 "DO", https://www.who.int/csr/disease/nipah/en/ "DO"] is_a: DOID:646 ! viral encephalitis is_a: DOID:9001406 ! Henipavirus Infections [Term] id: DOID:0050194 name: Argentine hemorrhagic fever def: "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)" [http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever "DO", http://www.jstor.org/stable/30129873?seq=1 "DO"] xref: RDO:9004295 is_a: DOID:9006665 ! Arenavirus hemorrhagic fever is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050195 name: Bolivian hemorrhagic fever def: "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)" [http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm "DO"] xref: MESH:D006478 is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:9006665 ! Arenavirus hemorrhagic fever is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050196 name: Venezuelan hemorrhagic fever def: "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)" [https://pubmed.ncbi.nlm.nih.gov/34917387/ "DO", https://pubmed.ncbi.nlm.nih.gov/7840443/ "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050197 name: Brazilian hemorrhagic fever def: "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)" [http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7905555 "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050198 name: Chapare hemorrhagic fever def: "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)" [http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050199 name: Whitewater Arroyo hemorrhagic fever def: "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)" [http://jama.ama-assn.org/cgi/content/full/284/10/1237 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050200 name: Korean hemorrhagic fever def: "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)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/1349231 "DO"] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050201 name: nephropathia epidemica def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/1349231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2574903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2902106 "DO"] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050202 name: lujo hemorrhagic fever def: "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/19478873 "DO"] xref: RDO:9004301 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050204 name: Epstein-Barr virus hepatitis def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16711324 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17602362 "DO"] is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:9007329 ! Human Viral Hepatitis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050211 name: swine influenza def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus 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)" [http://www.cdc.gov/flu/swineflu/key_facts.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/9140195 "DO"] xref: EFO:0005226 xref: RDO:9002858 is_a: DOID:8469 ! influenza created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050214 name: Lambert-Eaton myasthenic syndrome def: "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)" [http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome "DO"] synonym: "Eaton-Lambert Myasthenic-Myopathic Syndrome" EXACT [] synonym: "Eaton-Lambert Myopathic-Myasthenic Syndromes" EXACT [] synonym: "Eaton Lambert Syndrome" EXACT [] synonym: "LEMS" EXACT [] synonym: "myasthenic-myopathic syndrome of Eaton Lambert" EXACT [] xref: ICD10CM:G70.80 xref: ICD9CM:358.3 xref: MESH:D015624 xref: NCI:C3155 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:439 ! neuromuscular junction disease is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes [Term] id: DOID:0050218 name: polycystic echinococcosis def: "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm "DO"] synonym: "human polycystic hydatid disease" EXACT [] synonym: "neotropical echinococcosis" EXACT [] xref: RDO:9002368 is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:0050222 name: selective IgM deficiency disease def: "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO)" [http://en.wikipedia.org/wiki/IgM "DO", http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency "DO"] xref: RDO:9002617 is_a: DOID:11702 ! dysgammaglobulinemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050242 name: primary amebic meningoencephalitis def: "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)" [http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis "DO", http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm "DO"] synonym: "Meningoencephalitis caused by Naegleria fowleri" EXACT [] synonym: "Naegleria fowleri infection" EXACT [] xref: GARD:9554 is_a: DOID:9002216 ! Central Nervous System Protozoal Infections is_a: DOID:9181 ! amebiasis [Term] id: DOID:0050246 name: granulomatous amebic encephalitis def: "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)" [http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm "DO"] synonym: "acanthamoeba encephalitis" EXACT [] synonym: "acanthamoeba granulomatous encephalitis" EXACT [] synonym: "granulomatous amebic encephalitis due to acanthamoeba" EXACT [] synonym: "granulomatous amoebic encephalitis" EXACT [] xref: GARD:12651 is_a: DOID:0050242 ! primary amebic meningoencephalitis is_a: DOID:9002366 ! Protozoan Encephalitis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050250 name: philophthalmiasis def: "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)" [http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm "DO"] is_a: DOID:5614 ! eye disease is_a: DOID:888 ! fasciolopsiasis created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050251 name: coenurosis def: "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)" [https://en.wikipedia.org/wiki/Coenurosis "DO", https://www.cdc.gov/dpdx/coenurosis/index.html "DO"] is_a: DOID:0050596 ! taeniasis is_a: DOID:37 ! skin disease is_a: DOID:9004805 ! Central Nervous System Parasitic Infections created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050253 name: mesocestoidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm "DO"] xref: RDO:9002492 is_a: DOID:9006970 ! Cestode Infections created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050254 name: acanthocephaliasis def: "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)" [https://www.cdc.gov/dpdx/acanthocephaliasis/index.html "DO"] xref: RDO:9002493 is_a: DOID:9001455 ! Intestinal Helminthiasis created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050256 name: angiostrongyliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO)" [https://en.wikipedia.org/wiki/Angiostrongyliasis "DO"] synonym: "abdominal angiostrongyliasis" EXACT [] synonym: "Angiostrongylus cantonensis infection" EXACT [] synonym: "Angiostrongylus costaricensis infection" EXACT [] synonym: "human eosinophilic meningitis" EXACT [] synonym: "Intravitreal angiostrongyliasis" EXACT [] synonym: "Parastrongylus costaricensis infection" EXACT [] synonym: "rat lungworm infection" EXACT [] xref: GARD:683 xref: MESH:C536369 is_a: DOID:9000928 ! Central Nervous System Helminthiasis is_a: DOID:9001455 ! Intestinal Helminthiasis is_a: DOID:9003369 ! Strongylida Infections is_a: DOID:9004432 ! Parasitic Eye Infections [Term] id: DOID:0050259 name: baylisascariasis def: "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)" [https://en.wikipedia.org/wiki/Baylisascaris "DO"] is_a: DOID:319 ! spinal cord disease is_a: DOID:5614 ! eye disease is_a: DOID:9001455 ! Intestinal Helminthiasis is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050260 name: dioctophymiasis def: "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)" [http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm "DO"] is_a: DOID:557 ! kidney disease is_a: DOID:9000395 ! Ascaridida Infections is_a: DOID:9007630 ! Parasitic Skin Diseases created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050261 name: thelaziasis def: "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)" [http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm "DO"] is_a: DOID:9002992 ! Nematode Infections is_a: DOID:9004432 ! Parasitic Eye Infections created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050266 name: tungiasis def: "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)" [http://en.wikipedia.org/wiki/Tungiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm "DO"] xref: EFO:1001445 xref: GARD:393 xref: MESH:D058285 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease is_a: DOID:9005296 ! Flea Infestations [Term] id: DOID:0050268 name: ophthalmomyiasis def: "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO)" [http://en.wikipedia.org/wiki/Myiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] is_a: DOID:11080 ! myiasis is_a: DOID:5614 ! eye disease [Term] id: DOID:0050269 name: Trichomonas vaginalis trichomoniasis def: "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)" [http://en.wikipedia.org/wiki/Trichomoniasis "DO"] synonym: "Trichomonas Vaginitides" EXACT [] synonym: "Trichomonas vaginitis" EXACT [] synonym: "urogenital trichomonas" EXACT [] xref: EFO:0007521 xref: ICD10CM:A59.00 xref: MESH:D014247 xref: NCI:C35083 is_a: DOID:1947 ! trichomoniasis is_a: DOID:2059 ! vulvar disease is_a: DOID:2170 ! vaginitis is_a: DOID:2253 ! cervix disease is_a: DOID:732 ! urethral disease [Term] id: DOID:0050270 name: Trichomonas tenax trichomoniasis def: "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)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 "DO"] is_a: DOID:1947 ! trichomoniasis is_a: DOID:403 ! mouth disease [Term] id: DOID:0050278 name: basidiobolomycosis def: "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)" [http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ "DO"] xref: RDO:9003673 is_a: DOID:0050135 ! subcutaneous mycosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050279 name: conidiobolomycosis def: "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)" [http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ "DO"] xref: RDO:9003674 is_a: DOID:0050135 ! subcutaneous mycosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050288 name: penicilliosis def: "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)" [http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 "DO"] is_a: DOID:0050136 ! systemic mycosis is_a: DOID:2473 ! opportunistic mycosis created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050289 name: fusariosis def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/14748803 "DO"] synonym: "disseminated fusarioses" EXACT [] synonym: "Disseminated Fusariosis" EXACT [] synonym: "Fusarioses" EXACT [] synonym: "Fusarium Infection" EXACT [] synonym: "Fusarium Infections" EXACT [] synonym: "Invasive Fusarioses" EXACT [] synonym: "Invasive Fusariosis" EXACT [] synonym: "Invasive Pulmonary Fusarioses" EXACT [] synonym: "Invasive Pulmonary Fusariosis" EXACT [] synonym: "Pulmonary Fusarioses" EXACT [] synonym: "pulmonary fusariosis" EXACT [] xref: EFO:1001795 xref: MESH:D060585 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:9007316 ! Hyalohyphomycosis [Term] id: DOID:0050290 name: trichosporonosis def: "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)" [https://en.wikipedia.org/wiki/Trichosporonosis "DO"] synonym: "disseminated trichosporonoses" EXACT [] synonym: "Disseminated Trichosporonosis" EXACT [] synonym: "Invasive Trichosporonoses" EXACT [] synonym: "Invasive Trichosporonosis" EXACT [] synonym: "Japanese Summer Type Hypersensitivity Pneumonitis" EXACT [] synonym: "Summer-Type Hypersensitivity Pneumonitides" EXACT [] synonym: "Summer Type Hypersensitivity Pneumonitis" EXACT [] synonym: "trichosporonoses" EXACT [] xref: MESH:D060586 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:0050291 name: parasitic Ichthyosporea infectious disease def: "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO)" [http://en.wikipedia.org/wiki/Mesomycetozoea "DO"] is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9004157 ! Protozoan Infections, Animal created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:0050292 name: primary systemic mycosis def: "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)" [http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/ "DO"] is_a: DOID:0050136 ! systemic mycosis created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050304 name: aniseikonia def: "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO)" [https://en.wikipedia.org/wiki/Aniseikonia "DO"] xref: EFO:1001266 xref: MESH:D000839 is_a: DOID:9835 ! refractive error [Term] id: DOID:0050308 name: Alkhurma hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, 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)" [http://en.wikipedia.org/wiki/Alkhurma_virus "DO"] is_a: DOID:11320 ! Kyasanur forest disease [Term] id: DOID:0050328 name: congenital hypothyroidism alt_id: MIM:228355 def: "A hypothyroidism that is present at birth. (DO)" [http://en.wikipedia.org/wiki/Congenital_hypothyroidism "DO", http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism "DO"] synonym: "congenital myxedema" EXACT [] synonym: "Cretinism" EXACT [] synonym: "Endemic Cretinism" EXACT [] synonym: "experimental congenital hypothyroidism" NARROW [] synonym: "Fetal Iodine Deficiency Disorder" EXACT [] xref: GARD:1487 xref: ICD10CM:E00.1 xref: ICD9CM:243 xref: MESH:D003409 xref: MIM:PS275200 xref: NCI:C26734 xref: NCI:C98921 is_a: DOID:0080015 ! physical disorder is_a: DOID:1459 ! hypothyroidism is_a: DOID:9007661 ! Dwarfism is_a: DOID:9007819 ! Endocrine Bone Diseases [Term] id: DOID:0050331 name: lacrimoauriculodentodigital syndrome 1 alt_id: DOID:9004849 def: "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)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome "DO"] synonym: "Lacrimo-auriculo-dento-digital syndrome 1" EXACT [] synonym: "LADD1" EXACT [] synonym: "LADD Syndrome 1" EXACT [] synonym: "Levy Hollister syndrome" EXACT [] xref: MIM:149730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome [Term] id: DOID:0050332 name: enlarged vestibular aqueduct def: "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)" [https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct "DO"] synonym: "EVA" EXACT [] synonym: "large vestibular aqueduct" EXACT [] xref: GARD:8651 xref: RDO:9003730 is_a: DOID:3426 ! vestibular disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050335 name: bradyopsia def: "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO)" [https://medlineplus.gov/genetics/condition/bradyopsia/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17826834 "DO"] synonym: "PERRS" EXACT [] synonym: "prolonged electroretinal response suppression" EXACT [] xref: GARD:12299 xref: MESH:C564243 xref: MIM:PS608415 xref: ORDO:75374 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050336 name: hypophosphatemia def: "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO)" [https://en.wikipedia.org/wiki/Hypophosphatemia "DO"] synonym: "hypophosphatemias" EXACT [] xref: MESH:D017674 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050338 name: primary bacterial infectious disease alt_id: DOID:13238 def: "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)" [http://en.wikipedia.org/wiki/Infectious_disease "DO"] synonym: "primary bacterial infectious diseases" EXACT [] is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050339 name: commensal bacterial infectious disease def: "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)" [https://www.microbiologyinpictures.com/introduction.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24727150 "DO"] xref: RDO:9002545 is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050340 name: opportunistic bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 "DO"] is_a: DOID:104 ! bacterial infectious disease created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050352 name: foodborne botulism def: "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)" [https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/ "DO"] is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050353 name: wound botulism def: "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)" [http://www.who.int/mediacentre/factsheets/fs270/en/ "DO"] synonym: "wound botulisms" EXACT [] xref: MONDO:0015803 is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050354 name: infant botulism def: "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)" [https://www.aafp.org/afp/2002/0401/p1388.html "DO"] synonym: "infantile botulism" EXACT [] is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050382 name: glandular tularemia def: "A tularemia that results_in swelling of regional lymph glands. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] is_a: DOID:2123 ! tularemia is_a: DOID:75 ! lymphatic system disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050383 name: typhoidal tularemia def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/29635071 "DO"] is_a: DOID:2123 ! tularemia created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050387 name: nonpapillary renal cell carcinoma def: "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2921777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8415591 "DO"] is_a: DOID:4455 ! hereditary renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:0050398 name: Carrion's disease def: "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)" [http://en.wikipedia.org/wiki/Carrion%27s_disease "DO"] synonym: "Carrion disease" EXACT [] synonym: "Carrions disease" EXACT [] synonym: "Oroya fever" EXACT [] xref: RDO:9002611 is_a: DOID:11102 ! bartonellosis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050419 name: complement factor I deficiency alt_id: MIM:610984 def: "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO)" [https://www.omim.org/entry/610984 "DO"] synonym: "C3G2" EXACT [] synonym: "C3 glomerulopathy 2" EXACT [] synonym: "C3 inactivator deficiency" EXACT [] synonym: "CFID" EXACT [] synonym: "complement component 3 inactivator deficiency" EXACT [] xref: MESH:C572568 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0050424 name: familial adenomatous polyposis def: "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. (DO)" [http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis "DO", http://www.omim.org/entry/175100?search=adenomatous%20polyposis "DO"] synonym: "AAPC" NARROW [] synonym: "adenomatous colonic polyposis" EXACT [] synonym: "adenomatous intestinal polyposes" EXACT [] synonym: "Adenomatous Intestinal Polyposis" EXACT [] synonym: "Adenomatous Polyposis Coli" EXACT [] synonym: "ADENOMATOUS POLYPOSIS COLI, ATTENUATED" NARROW [] synonym: "Adenomatous Polyposis Colus" EXACT [] synonym: "Adenomatous Polyposis of the Colon" EXACT [] synonym: "APC" EXACT [] synonym: "APC-associated polyposis disorders" BROAD [] synonym: "BRAIN TUMOR-POLYPOSIS SYNDROME 2" NARROW [] synonym: "BTPS2" NARROW [] synonym: "CLASSIC OR ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" BROAD [] synonym: "Familial Adenomatous Polyposes" EXACT [] synonym: "Familial Adenomatous Polyposis Coli" EXACT [] synonym: "Familial Adenomatous Polyposis of the Colon" EXACT [] synonym: "Familial Intestinal Polyposes" EXACT [] synonym: "Familial Intestinal Polyposis" EXACT [] synonym: "Familial Multiple Polyposes" EXACT [] synonym: "Familial Multiple Polyposi" EXACT [] synonym: "Familial Multiple Polyposis" EXACT [] synonym: "Familial Multiple Polyposis Syndrome" EXACT [] synonym: "Familial Multiple Polyposus" EXACT [] synonym: "Familial Polyposis Coli" EXACT [] synonym: "Familial Polyposis Colus" EXACT [] synonym: "Familial Polyposis of the Colon" EXACT [] synonym: "Familial Polyposis Syndrome" EXACT [] synonym: "Familial Polyposis Syndromes" EXACT [] synonym: "FPC" EXACT [] synonym: "HEREDITARY MIXED POLYPOSIS" NARROW [] synonym: "Hereditary Polyposis Coli" EXACT [] synonym: "Hereditary Polyposis Colus" EXACT [] synonym: "MYH-associated polyposes" BROAD [] synonym: "MYH-associated polyposis" BROAD [] synonym: "polymerase proofreading-related adenomatous polyposis" NARROW [] synonym: "polyposis coli" EXACT [] synonym: "polyposis colus" EXACT [] xref: EFO:1000633 xref: GARD:6408 xref: MESH:D011125 xref: MIM:PS175100 xref: NCI:C3339 xref: ORDO:733 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:6225 ! Cronkhite-Canada syndrome is_a: DOID:9001441 ! Adenomatous Polyps is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9008443 ! Colorectal Neoplasms [Term] id: DOID:0050425 name: restless legs syndrome alt_id: MIM:610438 alt_id: MIM:610439 alt_id: MIM:611185 alt_id: MIM:611242 alt_id: MIM:612853 alt_id: MIM:615197 def: "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)" [http://en.wikipedia.org/wiki/Restless_legs_syndrome "DO", http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm "DO"] synonym: "Ekbom syndrome" EXACT [] synonym: "hereditary acromelalgia" EXACT [] synonym: "PERIODIC LIMB MOVEMENTS IN SLEEP" EXACT [] synonym: "Restless Legs" EXACT [] synonym: "restless legs syndrome, susceptibility to, 3" RELATED [] synonym: "restless legs syndrome, susceptibility to, 4" RELATED [] synonym: "restless legs syndrome, susceptibility to, 5" RELATED [] synonym: "restless legs syndrome, susceptibility to, 6" RELATED [] synonym: "restless legs syndrome, susceptibility to, 7" RELATED [] synonym: "restless legs syndrome, susceptibility to, 8" RELATED [] synonym: "Restless Leg Syndrome" EXACT [] synonym: "RLS3" RELATED [] synonym: "RLS4" RELATED [] synonym: "RLS5" RELATED [] synonym: "RLS6" RELATED [] synonym: "RLS7" RELATED [] synonym: "RLS8" RELATED [] synonym: "WED" EXACT [] synonym: "Willis Ekbom Disease" EXACT [] synonym: "Willis Ekbom Syndrome" EXACT [] synonym: "Wittmaack Ekbom syndrome" EXACT [] xref: EFO:0004270 xref: GARD:11926 xref: ICD10CM:G25.81 xref: ICD9CM:333.94 xref: MESH:D012148 xref: MIM:PS102300 xref: NCI:C84501 is_a: DOID:225 ! syndrome is_a: DOID:9000166 ! Intrinsic Sleep Disorders is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:0050426 name: Stevens-Johnson syndrome alt_id: MIM:608579 def: "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)" [https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome "DO"] synonym: "carbamazepine-induced hypersensitivity syndrome, susceptibility to" NARROW [] synonym: "drug-induced Stevens-Johnson syndrome" EXACT [] synonym: "Lyell's Syndrome" EXACT [] synonym: "Lyell's Syndromes" EXACT [] synonym: "Lyell Syndrome" EXACT [] synonym: "Mycoplasma Induced Stevens Johnson Syndrome" EXACT [] synonym: "Nonstaphylococcal Scalded Skin Syndrome" EXACT [] synonym: "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO" EXACT [] synonym: "STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO" NARROW [] synonym: "Stevens Johnson Syndrome Toxic Epidermal Necrolysis" EXACT [] synonym: "Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum" EXACT [] synonym: "Toxic Epidermal Necrolyses" EXACT [] synonym: "toxic epidermal necrolysis" EXACT [] synonym: "toxic epidermal necrolysis, susceptibility to" NARROW [] xref: EFO:0004276 xref: EFO:0004775 xref: GARD:7700 xref: ICD10CM:L51.1 xref: ICD9CM:695.13 xref: MESH:D013262 xref: NCI:C79484 xref: NCI:C79777 is_a: DOID:0050185 ! erythema multiforme is_a: DOID:225 ! syndrome is_a: DOID:9005236 ! Drug Eruptions is_a: DOID:9637 ! stomatitis [Term] id: DOID:0050427 name: xeroderma pigmentosum def: "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)" [http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract "DO"] synonym: "Kaposi's disease" EXACT [] synonym: "Kaposi disease" EXACT [] synonym: "Kaposis disease" EXACT [] xref: GARD:7910 xref: MESH:D014983 xref: NCI:C3452 xref: ORDO:910 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:3159 ! photosensitivity disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:0050428 name: nonepidermolytic palmoplantar keratoderma def: "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)" [http://en.wikipedia.org/wiki/Palmoplantar_keratoderma "DO"] synonym: "diffuse nonepidermolytic palmomplantar keratoderma" NARROW [] synonym: "diffuse nonepidermolytic palmoplantar keratoderma" NARROW [] synonym: "diffuse orthohyperkeratotic keratoderma" NARROW [] synonym: "keratosis palmoplantaris diffusa circumscripta" NARROW [] synonym: "NEPPK" EXACT [] synonym: "NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS" EXACT [] synonym: "PPKNE" EXACT [] synonym: "Thost-Unna Syndrome" EXACT [] synonym: "Unna-Thost Syndrome" EXACT [] xref: EFO:1000743 xref: MESH:C563422 is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:0050429 name: Hailey-Hailey disease alt_id: MIM:169600 def: "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. (DO)" [https://rarediseases.org/rare-diseases/hailey-hailey-disease/ "DO"] synonym: "BCPM" EXACT [] synonym: "benign chronic pemphigus" EXACT [] synonym: "benign familial pemphigus" EXACT [] synonym: "familial benign chronic pemphigus" EXACT [] synonym: "HHD" EXACT [] xref: GARD:6559 xref: MESH:D016506 xref: NCI:C82865 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9182 ! pemphigus [Term] id: DOID:0050430 name: multiple endocrine neoplasia type 2A alt_id: MIM:171400 def: "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)" [http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO"] synonym: "familial medullary thyroid carcinoma" NARROW [] synonym: "FMTC AND UNCLASSIFIED" EXACT [] synonym: "MEA 2A" EXACT [] synonym: "MEA II" BROAD [] synonym: "MEA IIa" EXACT [] synonym: "MEN 2" BROAD [] synonym: "MEN 2a" EXACT [] synonym: "MEN2a" EXACT [] synonym: "MEN2A and Unclassified" RELATED [] synonym: "MEN 2A syndrome" EXACT [] synonym: "MEN-2A Syndromes" EXACT [] synonym: "MEN2 Disease" BROAD [] synonym: "MEN2 Phenotype: Unclassified" BROAD [] synonym: "MEN2 Phenotype: Unknown" BROAD [] synonym: "MEN II" BROAD [] synonym: "MEN IIa" EXACT [] synonym: "Multiple Endocrine Neoplasia 2" BROAD [] synonym: "multiple endocrine neoplasia II" BROAD [] synonym: "Multiple Endocrine Neoplasia Type 2" BROAD [] synonym: "Multiple Endocrine Neoplasia, Type IIa" EXACT [] synonym: "Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease" NARROW [] synonym: "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA" NARROW [] synonym: "Multiple Endocrine Neoplasms Type 2a" EXACT [] synonym: "Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma" EXACT [] synonym: "PTC syndrome" EXACT [] synonym: "Sipple syndrome" EXACT [] xref: ICD10CM:E31.22 xref: ICD9CM:258.02 xref: MESH:D018813 xref: NCI:C3226 xref: ORDO:247698 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:0050431 name: arrhythmogenic right ventricular cardiomyopathy def: "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)" [http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO", http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO", http://my.clevelandclinic.org/services/heart/disorders/arvd "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "DO", https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"] synonym: "ARRHYTHMOGENIC CARDIOMYOPATHY" BROAD [] synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia" EXACT [] synonym: "Arrhythmogenic Right Ventricular Dysplasia" EXACT [] synonym: "ARVC" EXACT [] synonym: "ARVD" EXACT [] synonym: "ARVD-C" EXACT [] synonym: "CARDIOMYOPATHY, ARVC" EXACT [] synonym: "FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA" NARROW [] synonym: "right ventricular ACM" EXACT [] synonym: "right ventricular cardiomyopathy" EXACT [] synonym: "TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY" NARROW [] xref: EFO:0002631 xref: MESH:D019571 xref: MIM:PS107970 xref: MONDO:0016587 xref: NCI:C84571 xref: ORDO:217656 xref: ORDO:247 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0050432 name: Asperger syndrome alt_id: MIM:608631 alt_id: MIM:608638 alt_id: MIM:608781 alt_id: MIM:609954 def: "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)" [http://en.wikipedia.org/wiki/Asperger_syndrome "DO", http://www.neurodevnet.ca "DO"] synonym: "Asperger's Disease" EXACT [] synonym: "Asperger's diseases" EXACT [] synonym: "Asperger's disorder" EXACT [] synonym: "Asperger's syndrome" EXACT [] synonym: "Asperger disease" EXACT [] synonym: "Asperger diseases" EXACT [] synonym: "Asperger disorder" EXACT [] synonym: "Asperger disorders" EXACT [] synonym: "Aspergers disease" EXACT [] synonym: "Aspergers disorder" EXACT [] synonym: "Aspergers syndrome" EXACT [] synonym: "Asperger Syndrome, Susceptibility To, 1" RELATED [] synonym: "Asperger Syndrome, Susceptibility To, 2" RELATED [] synonym: "Asperger Syndrome, Susceptibility To, 3" RELATED [] synonym: "Asperger Syndrome, Susceptibility To, 4" RELATED [] synonym: "Asperger Syndrome, X-Linked, Susceptibility To, 1" RELATED [] synonym: "Asperger Syndrome, X-Linked, Susceptibility To, 2" RELATED [] synonym: "ASPG" EXACT [] synonym: "ASPG1" RELATED [] synonym: "ASPG2" RELATED [] synonym: "ASPG3" RELATED [] synonym: "ASPG4" RELATED [] synonym: "ASPGX1" RELATED [] synonym: "ASPGX2" RELATED [] xref: EFO:0003757 xref: GARD:5855 xref: ICD10CM:F84.5 xref: MESH:D020817 xref: MIM:PS608638 xref: MONDO:0005259 xref: NCI:C97159 xref: ORDO:1162 is_a: DOID:0060041 ! autism spectrum disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0050433 name: fatal familial insomnia alt_id: MIM:600072 def: "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO)" [https://en.wikipedia.org/wiki/Fatal_familial_insomnia "DO"] synonym: "familial fatal insomnias" EXACT [] synonym: "FFI" EXACT [] xref: GARD:6429 xref: ICD10CM:A81.83 xref: ICD9CM:046.72 xref: MESH:D034062 xref: NCI:C84711 is_a: DOID:649 ! prion disease is_a: DOID:9004576 ! Sleep Initiation and Maintenance Disorders [Term] id: DOID:0050434 name: Andersen-Tawil syndrome alt_id: MIM:170390 def: "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)" [http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome "DO", http://en.wikipedia.org/wiki/Long_QT_syndrome "DO"] synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [] synonym: "Andersen cardiodysrythmic periodic paralysis" EXACT [] synonym: "Andersen syndrome" EXACT [] synonym: "ATS" EXACT [] synonym: "long QT syndrome 7" EXACT [] synonym: "LQT7" EXACT [] synonym: "potassium-sensitive cardiodysrhythmic type" EXACT [] synonym: "potassium-sensitive cardiodysrhythmic type periodic paralysis" EXACT [] synonym: "potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" EXACT [] xref: GARD:9453 xref: MESH:D050030 xref: NCI:C84559 xref: ORDO:37553 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0050436 name: mulibrey nanism alt_id: MESH:C538604 alt_id: MIM:253250 def: "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)" [https://rarediseases.org/rare-diseases/mulibrey-nanism/ "DO"] synonym: "MUL" EXACT [] synonym: "mulibrey growth disorder" EXACT [] synonym: "mulibrey nanism syndrome" EXACT [] synonym: "muscle liver brain eye nanism" EXACT [] synonym: "Perheentupa syndrome" EXACT [] synonym: "pericardial constriction and growth failure" EXACT [] synonym: "pericardial constriction with growth failure" EXACT [] synonym: "TRIM37-RELATED CONDITION" EXACT [] xref: GARD:95 xref: MESH:D050336 xref: NCI:C84906 xref: ORDO:2576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050437 name: Danon disease alt_id: MIM:300257 def: "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)" [https://rarediseases.org/rare-diseases/danon-disease/ "DO"] synonym: "Antopol disease" EXACT [] synonym: "glycogen storage cardiomyopathies" EXACT [] synonym: "glycogen storage cardiomyopathy" EXACT [] synonym: "Glycogen Storage Disease IIb" EXACT [] synonym: "Glycogen Storage Disease Limited to the Heart" EXACT [] synonym: "Glycogen Storage Disease Type 2B" EXACT [] synonym: "glycogen storage disease type IIB" EXACT [] synonym: "GSD2B" EXACT [] synonym: "GSD IIb" EXACT [] synonym: "lysosomal glycogen storage disease with normal acid maltase" EXACT [] synonym: "lysosomal glycogen storage disease without acid maltase deficiency" EXACT [] synonym: "pseudoglycogenosis 2" EXACT [] synonym: "pseudoglycogenosis II" EXACT [] synonym: "X-linked vacuolar cardiomyopathy and myopathy" EXACT [] xref: EFO:1001333 xref: GARD:9730 xref: MESH:D052120 xref: NCI:C84735 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2747 ! glycogen storage disease is_a: DOID:3211 ! lysosomal storage disease is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050438 name: Frasier syndrome alt_id: MIM:136680 def: "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)" [https://ghr.nlm.nih.gov/condition/frasier-syndrome "DO"] xref: GARD:2375 xref: MESH:D052159 xref: NCI:C122805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:783 ! end stage renal disease is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:0050439 name: Usher syndrome def: "A syndrome characterized by a combination of hearing loss and visual impairment. (DO)" [http://en.wikipedia.org/wiki/Usher_syndrome "DO"] synonym: "dystrophia retinae pigmentosa dysostosis syndrome" EXACT [] synonym: "Graefe Usher syndrome" EXACT [] synonym: "Hallgren syndrome" EXACT [] synonym: "retinitis pigmentosa and congenital deafness" EXACT [] synonym: "Usher's syndrome" EXACT [] synonym: "Ushers syndrome" EXACT [] synonym: "Usher syndromes" EXACT [] xref: GARD:7843 xref: MESH:D052245 xref: MIM:PS276900 xref: NCI:C85217 xref: ORDO:886 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9005165 ! Deaf-Blind Disorders [Term] id: DOID:0050440 name: familial partial lipodystrophy def: "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)" [http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy "DO", http://omim.org/entry/608600 "DO"] synonym: "familial partial lipodystrophies" EXACT [] synonym: "Koberling Dunnigan Syndrome" EXACT [] synonym: "lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules" NARROW [] synonym: "reverse partial lipodystrophies" EXACT [] synonym: "reverse partial lipodystrophy" EXACT [] xref: GARD:11962 xref: MESH:D052496 xref: MIM:PS151660 xref: NCI:C84708 xref: ORDO:98306 is_a: DOID:0080299 ! partial lipodystrophy [Term] id: DOID:0050441 name: mucosulfatidosis alt_id: MIM:272200 def: "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)" [https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency "DO"] synonym: "juvenile sulfatidoses" EXACT [] synonym: "juvenile sulfatidosis" EXACT [] synonym: "MSD" EXACT [] synonym: "multiple sulfatase deficiencies" EXACT [] synonym: "multiple sulfatase deficiency" EXACT [] synonym: "multiple sulfatase deficiency disease" EXACT [] synonym: "multiple sulfatase deficiency diseases" EXACT [] synonym: "multiple sulphatase deficiency disease" EXACT [] synonym: "sulfatidosis juvenile, Austin type" EXACT [] xref: ICD10CM:E75.26 xref: MESH:D052517 xref: NCI:C84908 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9002902 ! Sulfatidosis [Term] id: DOID:0050444 name: infantile Refsum disease def: "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)" [https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page "DO"] synonym: "autosomal neonatal adrenoleukodystrophy" EXACT [] synonym: "infantile form of phytanic acid storage disease" EXACT [] synonym: "infantile phytanic acid storage disease" EXACT [] synonym: "infantile Refsum's disease" EXACT [] synonym: "Infantile Refsums Disease" EXACT [] synonym: "NEONATAL ADRENOLEUCODYSTROPHY" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)" EXACT [] synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" EXACT [] synonym: "Refsum disease, infantile form" EXACT [] xref: MESH:D052919 xref: NCI:C84789 is_a: DOID:10582 ! Refsum disease is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050445 name: X-linked dominant hypophosphatemic rickets alt_id: MIM:307800 def: "A rickets 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)" [http://en.wikipedia.org/wiki/X-linked_hypophosphatemia "DO", https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia "DO"] synonym: "FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS" EXACT [] synonym: "PHEX-RELATED CONDITION" EXACT [] synonym: "XLH" EXACT [] synonym: "XLHR" EXACT [] synonym: "X-linked hypophosphatemia" EXACT [] synonym: "X-linked hypophosphatemic rickets" EXACT [] synonym: "X-linked vitamin D resistant rickets" EXACT [] xref: NCI:C85234 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0050448 name: white sponge nevus def: "A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO)" [http://en.wikipedia.org/wiki/White_sponge_nevus "DO", https://pubmed.ncbi.nlm.nih.gov/29034652/ "DO"] synonym: "hereditary mucosal leukokeratoses" EXACT [] synonym: "hereditary mucosal leukokeratosis" EXACT [] synonym: "white sponge nevus of Cannon" EXACT [] xref: GARD:8501 xref: MESH:D053529 xref: MIM:PS193900 xref: NCI:C84760 xref: ORDO:171723 is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050449 name: pachyonychia congenita def: "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)" [https://ghr.nlm.nih.gov/condition/pachyonychia-congenita "DO"] synonym: "congenital pachyonychia" EXACT [] synonym: "congenital pachyonychias" EXACT [] synonym: "pachyonychia congenita syndrome" EXACT [] synonym: "pachyonychia congenita syndromes" EXACT [] synonym: "PC-K6A" EXACT [] xref: GARD:10753 xref: MESH:D053549 xref: MIM:PS167200 xref: NCI:C84986 xref: ORDO:2309 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease [Term] id: DOID:0050450 name: Gitelman syndrome alt_id: MIM:263800 def: "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)" [https://ghr.nlm.nih.gov/condition/gitelman-syndrome "DO"] synonym: "familial hypokalemia hypomagnesemia" EXACT [] synonym: "Gitelman's syndrome" EXACT [] synonym: "GTLMNS" EXACT [] synonym: "potassium and magnesium depletion" EXACT [] synonym: "primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria" EXACT [] synonym: "SLC12A3-RELATED CONDITION" EXACT [] synonym: "tubular hypomagnesemia hypokalemia with hypocalcuria" EXACT [] xref: GARD:8547 xref: MESH:D053579 xref: NCI:C84730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0050451 name: Brugada syndrome def: "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO)" [http://en.wikipedia.org/wiki/Brugada_syndrome "DO"] synonym: "Bangungut" EXACT [] synonym: "Brugada ECG pattern" EXACT [] synonym: "Brugada syndrome (shorter-than-normal QT interval)" EXACT [] synonym: "Brugada Syndrome, Lidocaine-Induced" NARROW [] synonym: "Brugada syndrome, phenotype modifier" RELATED [] synonym: "Brugada Type ECG Pattern" EXACT [] synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [] synonym: "dream disease" EXACT [] synonym: "Pokkuri death syndrome" EXACT [] synonym: "sudden unexplained death syndrome" EXACT [] synonym: "sudden unexplained nocturnal death syndrome" EXACT [] synonym: "sudden unexplained nocturnal death syndrome (SUNDS)" EXACT [] synonym: "SUNDS" EXACT [] synonym: "SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC" NARROW [] xref: EFO:0004691 xref: GARD:1030 xref: MESH:D053840 xref: MIM:PS601144 xref: MONDO:0015263 xref: NCI:C142891 xref: ORDO:130 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0050452 name: mevalonic aciduria def: "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)" [https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria "DO"] synonym: "HIDS" EXACT [] synonym: "MEVA" EXACT [] synonym: "mevalonate kinase deficiencies" EXACT [] synonym: "mevalonate kinase deficiency" EXACT [] synonym: "mevalonicaciduria" EXACT [] synonym: "mevalonicacidurias" EXACT [] xref: GARD:3588 xref: MESH:D054078 xref: MIM:610377 xref: MONDO:0012481 xref: NCI:C84890 xref: ORDO:29 is_a: DOID:9005358 ! Hypergammaglobulinemia is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050453 name: lissencephaly def: "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)" [http://en.wikipedia.org/wiki/Lissencephaly "DO", http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm "DO"] synonym: "Agyria" EXACT [] synonym: "agyrias" EXACT [] synonym: "Broad Gyri of Cerebrum" EXACT [] synonym: "ILS" EXACT [] synonym: "Large Gyri of Cerebrum" EXACT [] synonym: "Lissencephalia" EXACT [] synonym: "Lissencephalies" EXACT [] synonym: "LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA" NARROW [] synonym: "LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA" NARROW [] synonym: "lissencephaly, dominant" NARROW [] synonym: "lissencephaly, recessive" NARROW [] synonym: "LISSENCEPHALY SEQUENCE, ISOLATED" EXACT [] synonym: "macrogyria" EXACT [] synonym: "macrogyrias" EXACT [] synonym: "Pachygyria" EXACT [] synonym: "Pachygyrias" EXACT [] synonym: "POSTERIOR PREDOMINANT LISSENCEPHALY" NARROW [] synonym: "SBH" NARROW [] synonym: "SCLH" NARROW [] synonym: "subcortical band heterotopia" NARROW [] xref: EFO:0011063 xref: GARD:12291 xref: ICD10CM:Q04.3 xref: ICD10CM:Q04.8 xref: MESH:D054082 xref: MIM:PS607432 xref: NCI:C103921 xref: ORDO:102009 xref: ORDO:48471 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004667 ! Malformations of Cortical Development, Group II [Term] id: DOID:0050454 name: periventricular nodular heterotopia alt_id: MIM:300049 def: "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)" [http://ghr.nlm.nih.gov/condition/periventricular-heterotopia "DO"] synonym: "bilateral periventricular nodular heterotopia" EXACT [] synonym: "BPNH" EXACT [] synonym: "Familial Nodular Heterotopia" EXACT [] synonym: "familial nodular heterotopias" EXACT [] synonym: "HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA" NARROW [] synonym: "HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA" NARROW [] synonym: "Heterotopia, Periventricular, X-Linked Dominant" EXACT [] synonym: "NHBP" EXACT [] synonym: "Periventricular Heterotopia" EXACT [] synonym: "Periventricular Heterotopias" EXACT [] synonym: "Periventricular Nodular Heterotopia 1" EXACT [] synonym: "Periventricular Nodular Heterotopias" EXACT [] synonym: "PVNH1" EXACT [] synonym: "X-linked periventricular heterotopia" EXACT [] synonym: "X-linked periventricular heterotopias" EXACT [] xref: MESH:D054091 xref: MIM:PS300049 xref: NCI:C202072 xref: ORDO:98892 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004667 ! Malformations of Cortical Development, Group II [Term] id: DOID:0050456 name: Buruli ulcer disease alt_id: MIM:610446 def: "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)" [http://en.wikipedia.org/wiki/Buruli_ulcer "DO", http://www.who.int/mediacentre/factsheets/fs199/en/ "DO"] synonym: "Bairnsdale ulcer" EXACT [] synonym: "Buruli ulcer" EXACT [] synonym: "Buruli Ulcer Diseases" EXACT [] synonym: "BURULI ULCER, SUSCEPTIBILITY TO" EXACT [] synonym: "Daintree ulcer" EXACT [] synonym: "Mossman ulcer" EXACT [] synonym: "Mycobacterium ulcerans Infection" EXACT [] synonym: "Mycobacterium ulcerans Infections" EXACT [] synonym: "Mycobacterium ulcerans, susceptibility to" RELATED [] synonym: "Searle's ulcer" EXACT [] synonym: "Searl ulcer" EXACT [] xref: EFO:1001281 xref: GARD:9520 xref: ICD10CM:A31.1 xref: MESH:D054312 xref: MONDO:0000327 xref: NCI:C84604 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:8549 ! chronic ulcer of skin is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:0050457 name: Sertoli cell-only syndrome def: "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO)" [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome "DO"] synonym: "Del Castillo syndrome" EXACT [] synonym: "germinal cell aplasia" EXACT [] xref: EFO:1001422 xref: GARD:8406 xref: MESH:D054331 xref: NCI:C168988 is_a: DOID:12336 ! male infertility is_a: DOID:225 ! syndrome [Term] id: DOID:0050458 name: juvenile myelomonocytic leukemia alt_id: MIM:607785 def: "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO)" [https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ "DO"] synonym: "CMML" NARROW [] synonym: "JMML" EXACT [] synonym: "juvenile chronic myelogenous leukemia" EXACT [] synonym: "juvenile myelomonocytic leukemia, chronic myelomonocytic" NARROW [] synonym: "juvenile myelomonocytic leukemias" EXACT [] xref: EFO:1000309 xref: GARD:9884 xref: ICD10CM:C93.3 xref: ICDO:9946/3 xref: MESH:D054429 xref: NCI:C9233 xref: ORDO:86834 is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:0050459 name: hyperphosphatemia def: "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)" [https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO"] synonym: "hyperphosphatemias" EXACT [] xref: MESH:D054559 xref: NCI:C113750 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050460 name: Wolf-Hirschhorn syndrome alt_id: MIM:194190 def: "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)" [https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome "DO"] synonym: "4p deletion syndrome" EXACT [] synonym: "4p- Syndrome" EXACT [] synonym: "CHROMOSOME 4p16.3 DELETION SYNDROME" EXACT [] synonym: "Chromosome 4p Deletion Syndrome" EXACT [] synonym: "Chromosome 4p Monosomy" EXACT [] synonym: "Chromosome 4p Syndrome" EXACT [] synonym: "chromosome 4p syndromes" EXACT [] synonym: "Del(4p) Syndrome" EXACT [] synonym: "Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation" EXACT [] synonym: "Partial Monosomy 4p" EXACT [] synonym: "Pitt Rogers Danks Syndrome" EXACT [] synonym: "Pitt Syndrome" EXACT [] synonym: "Pitt Syndromes" EXACT [] synonym: "PRDS" EXACT [] synonym: "WHS" EXACT [] synonym: "Wolf Hirchhorn syndrome" EXACT [] synonym: "Wolf syndrome" EXACT [] xref: GARD:7896 xref: ICD10CM:Q93.3 xref: MESH:D054877 xref: NCI:C35528 xref: ORDO:280 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050461 name: aspartylglucosaminuria alt_id: MESH:C538402 alt_id: MIM:208400 def: "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)" [https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria "DO"] synonym: "AGA deficiencies" EXACT [] synonym: "AGA deficiency" EXACT [] synonym: "AGU" EXACT [] synonym: "aspartylglucosamidase (AGA) deficiency" EXACT [] synonym: "aspartylglucosamidase deficiencies" EXACT [] synonym: "aspartylglucosamidase deficiency" EXACT [] synonym: "aspartylglucosaminidase deficiency" EXACT [] synonym: "aspartylglucosaminuria, Finnish type" EXACT [] synonym: "aspartylglucosaminurias" EXACT [] synonym: "aspartylglycosaminuria" EXACT [] synonym: "aspartylglycosaminuria, Finnish type" EXACT [] synonym: "aspartylglycosaminurias" EXACT [] synonym: "glycoasparaginase" EXACT [] synonym: "glycoasparaginases" EXACT [] synonym: "glycosylasparaginase deficiency" EXACT [] xref: GARD:5854 xref: MESH:D054880 xref: NCI:C61273 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0050462 name: Antley-Bixler syndrome with disordered steroidogenesis alt_id: DOID:9003979 def: "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)" [http://en.wikipedia.org/wiki/Antley-Bixler_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/35070845/ "DO"] synonym: "ABS1" EXACT [] synonym: "Antley-Bixler syndrome, autosomal dominant" EXACT [] synonym: "Antley-Bixler syndrome like phenotype with disordered steroidogenesis" EXACT [] synonym: "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis" EXACT [] synonym: "Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase" EXACT [] synonym: "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency" EXACT [] synonym: "Multisynostotic Osteodysgenesis" EXACT [] synonym: "multisynostotic osteodysgenesis with fractures" EXACT [] synonym: "POR deficiency" EXACT [] synonym: "trapezoidocephaly synostosis syndrome" EXACT [] synonym: "trapezoidocephaly-synostosis syndromes" EXACT [] xref: MIM:201750 xref: NCI:C174439 xref: NCI:C178415 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081289 ! Antley-Bixler syndrome is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:0050463 name: campomelic dysplasia alt_id: MIM:114290 def: "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)" [http://en.wikipedia.org/wiki/Campomelic_dysplasia "DO", http://ghr.nlm.nih.gov/condition/campomelic-dysplasia "DO", http://www.healthline.com/galecontent/campomelic-dysplasia-1 "DO"] synonym: "acampomelic campomelic dysplasia" RELATED [] synonym: "acampomelic campomelic dysplasias" RELATED [] synonym: "acampomelic campomelic dysplasia with autosomal sex reversal" RELATED [] synonym: "campomelic dwarfism" EXACT [] synonym: "campomelic dwarfisms" EXACT [] synonym: "campomelic dysplasias" EXACT [] synonym: "campomelic dysplasia with autosomal sex reversal" RELATED [] synonym: "campomelic syndrome" EXACT [] synonym: "campomelic syndromes" EXACT [] synonym: "camptomelic dysplasia" EXACT [] synonym: "CMD1" EXACT [] synonym: "CMPD" EXACT [] synonym: "CMPD1" EXACT [] synonym: "CMPD1/SRA1" BROAD [] synonym: "SOX9-RELATED CONDITION" BROAD [] xref: EFO:0004140 xref: GARD:10027 xref: MESH:D055036 xref: MONDO:0007251 xref: NCI:C120205 xref: NCI:C84609 xref: ORDO:140 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0050464 name: Farber lipogranulomatosis alt_id: MIM:228000 def: "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)" [https://en.wikipedia.org/wiki/Farber_disease "DO"] synonym: "AC deficiency" EXACT [] synonym: "acid ceramidase deficiencies" EXACT [] synonym: "acid ceramidase deficiency" EXACT [] synonym: "ceramidase deficiencies" EXACT [] synonym: "Ceramidase Deficiency" EXACT [] synonym: "Farber's Disease" EXACT [] synonym: "Farber's diseases" EXACT [] synonym: "Farber's lipogranulomatosis" EXACT [] synonym: "Farber Disease" EXACT [] synonym: "Farbers Disease" EXACT [] synonym: "FRBRL" EXACT [] synonym: "N-laurylsphingosine deacylase deficiencies" EXACT [] synonym: "N-laurylsphingosine deacylase deficiency" EXACT [] xref: GARD:6426 xref: MESH:D055577 xref: NCI:C84710 xref: ORDO:333 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0050465 name: Muir-Torre syndrome alt_id: MIM:158320 def: "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)" [https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome "DO"] synonym: "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS" EXACT [] synonym: "MRTES" EXACT [] synonym: "Muir-Torré syndrome" EXACT [] xref: GARD:6821 xref: MESH:D055653 xref: NCI:C84905 xref: ORDO:587 is_a: DOID:0070274 ! hereditary nonpolyposis colorectal cancer type 2 is_a: DOID:5759 ! sebaceous gland neoplasm is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050466 name: Loeys-Dietz syndrome alt_id: MESH:C538192 def: "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)" [https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome "DO"] synonym: "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" EXACT [] synonym: "Loeys Dietz aortic aneurysm syndrome" EXACT [] synonym: "Loeys Dietz syndrome, type 1A" EXACT [] synonym: "Marfanoid disorder with craniosynostosis, type 2" EXACT [] xref: GARD:10788 xref: MESH:D055947 xref: MIM:PS609192 xref: NCI:C75006 xref: ORDO:60030 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14323 ! Marfan syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:3627 ! aortic aneurysm is_a: DOID:9006045 ! Dissecting Aneurysm is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050467 name: erythrokeratodermia variabilis def: "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)" [https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis "DO"] synonym: "EKV" EXACT [] synonym: "EKVP" EXACT [] synonym: "erythro et keratodermia variabilis" EXACT [] synonym: "erythrokeratodermia figurata variabilis" EXACT [] synonym: "erythrokeratodermia variabilis et progressiva" EXACT [] synonym: "Mendes De Costa syndrome" EXACT [] synonym: "progressive symmetric erythrokeratodermia" EXACT [] synonym: "PSEK" EXACT [] xref: MESH:D056266 xref: MIM:PS133200 xref: NCI:C84696 xref: ORDO:317 is_a: DOID:0050177 ! monogenic disease is_a: DOID:161 ! keratosis is_a: DOID:9006976 ! Erythema is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050468 name: yellow nail syndrome alt_id: MIM:153300 def: "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)" [http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/28241848 "DO"] synonym: "lymphedema and yellow nails" EXACT [] synonym: "yellow nail syndromes" EXACT [] synonym: "YNS" EXACT [] xref: EFO:1001452 xref: GARD:184 xref: ICD10CM:L60.5 xref: MESH:D056684 xref: NCI:C85238 is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:630 ! genetic disease is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0050469 name: Costello syndrome alt_id: MIM:218040 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17250658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/907573 "DO"] synonym: "CMEMS" NARROW [] synonym: "congenital myopathy with excess of muscle spindles" NARROW [] synonym: "CSTLO" EXACT [] synonym: "faciocutaneoskeletal syndrome" EXACT [] synonym: "faciocutaneoskeletal syndromes" EXACT [] synonym: "FCS syndrome" EXACT [] synonym: "FCS syndromes" EXACT [] xref: GARD:1550 xref: MESH:D056685 xref: NCI:C84652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050470 name: Donohue syndrome alt_id: MESH:C562709 alt_id: MIM:246200 def: "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)" [https://en.wikipedia.org/wiki/Donohue_syndrome "DO"] synonym: "defect in insulin receptor" RELATED [] synonym: "leprechaunism" EXACT [] synonym: "leprechaunism syndrome" EXACT [] xref: MESH:D056731 xref: NCI:C131000 xref: NCI:C84676 xref: ORDO:508 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0050471 name: Carney complex alt_id: MIM:160980 alt_id: MIM:605244 def: "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO)" [http://en.wikipedia.org/wiki/Carney_complex "DO", http://ghr.nlm.nih.gov/condition/carney-complex "DO"] synonym: "CAR" EXACT [] synonym: "Carney complex, type 1" EXACT [] synonym: "Carney complex, type 2" EXACT [] synonym: "Carney complex, type I" EXACT [] synonym: "Carney complex, type II" EXACT [] synonym: "Carney Myxoma Endocrine Complex" EXACT [] synonym: "CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2" EXACT [] synonym: "Carney Myxoma Endocrine Complex, Type II" EXACT [] synonym: "Carney syndrome" EXACT [] synonym: "CNC1" EXACT [] synonym: "CNC2" EXACT [] synonym: "LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome" EXACT [] synonym: "LAMB syndrome" EXACT [] synonym: "myxoma, spotty pigmentation, and endocrine overactivity" EXACT [] synonym: "NAME syndrome" EXACT [] synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT [] xref: GARD:1119 xref: MESH:D056733 xref: NCI:C4705 xref: ORDO:1359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003253 ! Myxoma is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050472 name: monilethrix alt_id: MIM:158000 def: "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)" [https://ghr.nlm.nih.gov/condition/monilethrix "DO"] synonym: "MNLIX" EXACT [] synonym: "monilethrices" EXACT [] synonym: "nodose hair" EXACT [] xref: GARD:93 xref: ICD10CM:Q84.1 xref: MESH:D056734 xref: NCI:C84894 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:421 ! hair disease is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050473 name: Alstrom syndrome alt_id: MIM:203800 def: "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)" [http://en.wikipedia.org/wiki/Alstrom_syndrome "DO"] synonym: "ALMS" EXACT [] synonym: "ALMS1-RELATED CONDITION" EXACT [] synonym: "ALSS" EXACT [] synonym: "Alstrom's syndrome" EXACT [] synonym: "Alstrom Hallgren syndrome" EXACT [] synonym: "Alstroms syndrome" EXACT [] synonym: "Alstrom syndrome" EXACT [] xref: EFO:MONDO:0008763 xref: MESH:D056769 xref: NCI:C84549 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060340 ! ciliopathy is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:0050474 name: Netherton syndrome alt_id: MIM:256500 def: "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)" [https://ghr.nlm.nih.gov/condition/netherton-syndrome "DO"] synonym: "Comel-Netherton syndrome" EXACT [] synonym: "ichthyosiform erythroderma with hypotrichosis and hyper-IgE" EXACT [] synonym: "ICHTHYOSIS LINEARIS CIRCUMFLEXA" EXACT [] synonym: "NETH" EXACT [] synonym: "Netherton disease" EXACT [] synonym: "NS" EXACT [] xref: GARD:7182 xref: MESH:D056770 xref: NCI:C84922 xref: ORDO:634 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050475 name: Weill-Marchesani syndrome def: "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)" [http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome "DO", http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome "DO"] synonym: "congenital mesodermal dysmorphodystrophies" EXACT [] synonym: "congenital mesodermal dysmorphodystrophy" EXACT [] synonym: "congenital mesodermal dystrophy" EXACT [] synonym: "Marchesani Syndrome" EXACT [] synonym: "Marchesani-Weill syndromes" EXACT [] synonym: "spherophakia brachymorphia syndrome" EXACT [] synonym: "spherophakia brachymorphia syndromes" EXACT [] synonym: "Weill Marchesani syndrome, autosomal recessive" NARROW [] xref: GARD:4936 xref: MESH:D056846 xref: MIM:PS277600 xref: NCI:C85226 xref: ORDO:3449 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050476 name: Barth syndrome alt_id: MIM:302060 def: "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)" [http://en.wikipedia.org/wiki/Barth_syndrome "DO", http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 "DO", http://www.ninds.nih.gov/disorders/barth/barth.htm "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract "DO"] synonym: "3 methylglutaconicaciduria type 2" EXACT [] synonym: "3-methylglutaconic aciduria type 2" EXACT [] synonym: "3-Methylglutaconicaciduria Type II" EXACT [] synonym: "3-methylglutaconic aciduria type II" EXACT [] synonym: "BTHS" EXACT [] synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT [] synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [] synonym: "MGA2" EXACT [] synonym: "MGA type 2" EXACT [] synonym: "MGA type II" EXACT [] synonym: "MGCA2" EXACT [] synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [] xref: GARD:5890 xref: ICD10CM:E78.71 xref: MESH:D056889 xref: NCI:C84585 xref: ORDO:111 is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050477 name: Liddle syndrome def: "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)" [https://en.wikipedia.org/wiki/Liddle%27s_syndrome "DO"] synonym: "Liddle's syndrome" EXACT [] synonym: "LIDLS" EXACT [] synonym: "pseudoaldosteronism" EXACT [] xref: GARD:7381 xref: MESH:D056929 xref: MIM:PS177200 xref: NCI:C84827 is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0050480 name: epidemic typhus def: "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)" [http://en.wikipedia.org/wiki/Epidemic_typhus "DO"] synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" EXACT [] synonym: "jail fever" EXACT [] synonym: "louse-borne epidemic typhus" EXACT [] synonym: "louse-borne rickettsiosis" EXACT [] synonym: "louse-borne typhus" EXACT [] synonym: "sylvatic typhus" EXACT [] xref: MESH:D014438 is_a: DOID:11256 ! typhus [Term] id: DOID:0050481 name: endemic typhus def: "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)" [http://en.wikipedia.org/wiki/Murine_typhus "DO"] synonym: "cat flea rickettsiosis" EXACT [] synonym: "endemic flea-borne typhus" EXACT [] synonym: "endemic typhus fever" EXACT [] synonym: "flea-borne rickettsiosis" EXACT [] synonym: "flea-borne typhus" EXACT [] synonym: "fleaborne typhus" EXACT [] synonym: "murine [endemic] typhus" EXACT [] synonym: "murine typhus" EXACT [] synonym: "rat-flea typhus" EXACT [] synonym: "rickettsia felis spotted fever" EXACT [] synonym: "shop typhus" EXACT [] synonym: "toulon typhus" EXACT [] synonym: "urban typhus" EXACT [] synonym: "urban typhus of Malaya" EXACT [] xref: MESH:D014437 xref: MONDO:0000330 xref: NCI:C84688 xref: ORDO:83315 is_a: DOID:11256 ! typhus [Term] id: DOID:0050484 name: aneruptive fever def: "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)" [http://jcm.asm.org/cgi/reprint/42/2/816 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia helvetica spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:0050485 name: sennetsu fever def: "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)" [https://rarediseases.org/rare-diseases/sennetsu-fever/ "DO"] synonym: "Human Ehrlichial infection, Sennetsu type" EXACT [] synonym: "Sennetsu ehrlichiosis" EXACT [] xref: GARD:120 xref: MESH:C537582 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050486 name: exanthem def: "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)" [https://en.wikipedia.org/wiki/Exanthem "DO"] synonym: "exanthema" EXACT [] synonym: "rash" EXACT [] synonym: "skin rash" EXACT [] xref: EFO:1000697 xref: ICD10CM:R21 xref: ICD9CM:782.1 xref: MESH:D005076 xref: NCI:C111884 xref: NCI:C39594 is_a: DOID:37 ! skin disease [Term] id: DOID:0050487 name: bacterial exanthem def: "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)" [https://en.wikipedia.org/wiki/Scarlet_fever#Rash "DO"] xref: EFO:1000671 is_a: DOID:0050486 ! exanthem is_a: DOID:104 ! bacterial infectious disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050488 name: early congenital syphilis def: "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)" [http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"] is_a: DOID:9856 ! congenital syphilis [Term] id: DOID:0050489 name: multinodular goiter def: "A goiter characterized by a multinodular enlargement of the thyroid gland. (DO)" [http://en.wikipedia.org/wiki/Multinodular_goitre "DO"] xref: MIM:PS138800 is_a: DOID:13197 ! nodular goiter [Term] id: DOID:0050490 name: parenchymatous neurosyphilis def: "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)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] xref: RDO:9002432 is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050491 name: meningovascular neurosyphilis def: "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)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050495 name: exanthema subitum def: "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)" [http://en.wikipedia.org/wiki/Exanthema_subitum "DO"] synonym: "Roseola Infantum" EXACT [] synonym: "Sixth Disease" EXACT [] xref: EFO:1001320 xref: ICD10CM:B08.2 xref: ICD9CM:058.1 xref: MESH:D005077 is_a: DOID:0050486 ! exanthem is_a: DOID:9001063 ! Viral Skin Diseases is_a: DOID:9002501 ! Roseolovirus Infections [Term] id: DOID:0050508 name: variola major def: "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)" [http://www.who.int/csr/disease/smallpox/en/ "DO"] xref: ICD9CM:050.0 is_a: DOID:8736 ! smallpox created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050513 name: spinal polio def: "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)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO"] is_a: DOID:0050515 ! paralytic poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050514 name: bulbospinal polio def: "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)" [http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO"] is_a: DOID:0050515 ! paralytic poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050515 name: paralytic poliomyelitis def: "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)" [http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO", https://www.sciencedirect.com/topics/neuroscience/paralytic-polio "DO"] is_a: DOID:4953 ! poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050516 name: O'nyong'nyong fever def: "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)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050517 name: Barmah Forest virus disease def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease "DO"] xref: RDO:9004309 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050518 name: Ross River fever def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ross_River_fever "DO"] synonym: "Ross River virus disease" EXACT [] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050521 name: Oropouche fever def: "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)" [http://en.wikipedia.org/wiki/Oropouche_fever "DO", http://www.cdc.gov/EID/content/13/6/912.htm "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050522 name: Balkan hemorrhagic fever def: "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)" [https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus "DO", https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome "DO"] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050523 name: adult T-cell leukemia/lymphoma def: "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), 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)" [http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184 "DO"] synonym: "acute T-cell leukemia lymphoma, HTLV I associated" EXACT [] synonym: "adult T-cell leukemia" EXACT [] synonym: "Adult T-cell leukemia/lymphoma (HTLV-1 positive)" EXACT [] synonym: "adult T-cell leukemia-lymphomas" EXACT [] synonym: "adult T-cell leukemias" EXACT [] synonym: "ATLL" EXACT [] synonym: "HTLV Associated Leukemia Lymphoma" EXACT [] synonym: "HTLV-Associated Leukemia-Lymphomas" EXACT [] synonym: "HTLV I Associated T Cell Leukemia Lymphoma" EXACT [] synonym: "HTLV-I-Associated T-Cell Leukemia-Lymphomas" EXACT [] synonym: "human T-cell leukemia lymphoma" EXACT [] synonym: "human T-cell leukemia-lymphomas" EXACT [] synonym: "human T lymphotropic virus associated leukemia lymphoma" EXACT [] xref: GARD:13103 xref: ICD10CM:C91.5 xref: ICDO:9827/3 xref: MESH:D015459 is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050524 name: maturity-onset diabetes of the young alt_id: MIM:606391 def: "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)" [http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young "DO"] synonym: "Mason-type diabetes" EXACT [] synonym: "maturity-onset diabetes mellitus in young" EXACT [] synonym: "MODY" EXACT [] xref: GARD:3697 xref: ICD10CM:E11.8 xref: MESH:C562772 xref: NCI:C114769 xref: ORDO:552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0050526 name: Gamstorp-Wohlfart syndrome alt_id: MIM:137200 def: "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)" [http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia "DO"] synonym: "acquired neuromyotonia" EXACT [] synonym: "AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA" EXACT [] synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [] synonym: "continuous muscle activity syndrome" EXACT [] synonym: "Continuous Myokymia" EXACT [] synonym: "continuous myokymias" EXACT [] synonym: "Isaacs Mertens Syndrome" EXACT [] synonym: "Isaacs-Mertens Syndromes" EXACT [] synonym: "Isaacs Pseudomyotonia Syndrome" EXACT [] synonym: "Isaacs Syndrome" EXACT [] synonym: "Isaac Syndrome" EXACT [] synonym: "myokymia, myotonia and muscle wasting" EXACT [] synonym: "Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis" EXACT [] synonym: "Neuromyotonia" EXACT [] synonym: "NMAN" EXACT [] synonym: "Pseudomyotonia" EXACT [] synonym: "pseudomyotonia syndrome of Isaacs" EXACT [] synonym: "quantal squander" EXACT [] synonym: "syndrome of continuous muscle activity" EXACT [] xref: GARD:12353 xref: MESH:D020386 xref: NCI:C202012 is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050528 name: nonphotosensitive trichothiodystrophy 4 alt_id: MIM:234050 def: "A syndrome 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)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO"] synonym: "HAIR-BRAIN SYNDROME" EXACT [] synonym: "nonphotosensitive trichothiodystrophy 1" EXACT [] synonym: "Pollitt syndrome" EXACT [] synonym: "trichorrhexis nodosa syndrome" EXACT [] synonym: "trichothiodystrophy-neurocutaneous syndrome" EXACT [] synonym: "trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt" EXACT [] synonym: "TTD4" EXACT [] synonym: "TTDN1" EXACT [] xref: MESH:C536556 xref: NCI:C146899 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0050529 name: adult spinal muscular atrophy alt_id: MESH:C538417 alt_id: MESH:C563948 def: "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)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO"] synonym: "SMA4" EXACT [] synonym: "spinal muscular atrophy 4" EXACT [] synonym: "spinal muscular atrophy, adult form" EXACT [] synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" EXACT [] synonym: "spinal muscular atrophy, type IV" EXACT [] xref: MIM:271150 xref: ORDO:83420 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0050530 name: intermediate spinal muscular atrophy def: "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)" [https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 "DO"] synonym: "SMA2" EXACT [] synonym: "SMA II" EXACT [] synonym: "spinal muscular atrophy 2" EXACT [] synonym: "spinal muscular atrophy, infantile chronic form" EXACT [] synonym: "spinal muscular atrophy, intermediate type" EXACT [] synonym: "spinal muscular atrophy, type 2" EXACT [] synonym: "spinal muscular atrophy, type II" EXACT [] xref: MIM:253550 xref: MONDO:0009673 xref: NCI:C156310 xref: ORDO:83418 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060160 ! childhood spinal muscular atrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050534 name: congenital stationary night blindness def: "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)" [http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1245/ "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ "DO", http://www.omim.org/entry/610444 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 "DO"] synonym: "congenital essential nyctalopia" EXACT [] synonym: "congenital stationary night blindness, complete, autosomal recessive" NARROW [] synonym: "congenital stationary night blindness, dominant" NARROW [] synonym: "congenital stationary night blindness, recessive" NARROW [] synonym: "congenital stationary night blindness, type 1" EXACT [] synonym: "CRSD" EXACT [] synonym: "CSNB, complete, autosomal recessive" NARROW [] synonym: "CSNB, incomplete, autosomal recessive" NARROW [] synonym: "CSNB, incomplete, X-linked" NARROW [] synonym: "hemeralopia-myopia" EXACT [] synonym: "myopia-night blindness" NARROW [] synonym: "NBM1 nyctalopia" NARROW [] synonym: "XLCSNB" NARROW [] synonym: "X-linked congenital stationary night blindness" NARROW [] synonym: "X-linked CSNB" NARROW [] xref: MESH:C536122 xref: MIM:PS310500 xref: ORDO:215 is_a: DOID:0080015 ! physical disorder is_a: DOID:11830 ! myopia is_a: DOID:8498 ! hereditary night blindness [Term] id: DOID:0050535 name: exudative vitreoretinopathy def: "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)" [http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy "DO", http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy "DO"] synonym: "familial exudative vitreoretinopathy" EXACT [] synonym: "FEVR" EXACT [] xref: GARD:1613 xref: ICD10CM:H35.00 xref: ICD9CM:362.10 xref: MESH:D000080345 xref: MIM:PS133780 xref: ORDO:891 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050537 name: posterior polar cataract def: "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/ "DO"] is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0050538 name: Charcot-Marie-Tooth disease type 1 alt_id: RDO:9002093 alt_id: RDO:9002804 def: "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"] synonym: "Charcot Marie Tooth disease, type I" EXACT [] synonym: "Charcot Marie Tooth, type 1" EXACT [] synonym: "hereditary motor and sensory neuropathy type 1" EXACT [] synonym: "Hereditary Type I Motor and Sensory Neuropathy" EXACT [] synonym: "HMN distal type I" EXACT [] synonym: "HMSN1" EXACT [] synonym: "HMSN I" EXACT [] synonym: "HMSN type I" EXACT [] xref: GARD:12433 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0050539 name: Charcot-Marie-Tooth disease type 2 def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/25098539 "DO"] synonym: "Charcot-Marie-Tooth disease, type II" EXACT [] synonym: "Charcot-Marie-Tooth, type 2" EXACT [] synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [] synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [] synonym: "hereditary motor and sensory neuropathy type 2" EXACT [] synonym: "hereditary motor and sensory neuropathy type II" EXACT [] synonym: "HMSN II" EXACT [] synonym: "HMSN type II" EXACT [] xref: GARD:12431 xref: ICD9CM:356.0 xref: ORDO:64746 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050540 name: Charcot-Marie-Tooth disease type 3 def: "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)" [https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease "DO"] synonym: "CMT3" EXACT [] synonym: "Dejerine Sottas disease" EXACT [] synonym: "Dejerine-Sottas hypertrophic neuropathy" EXACT [] synonym: "Dejerine Sottas neuropathy" EXACT [] synonym: "Dejerine-Sottas neuropathy, autosomal dominant" EXACT [] synonym: "Dejerine Sottas syndrome" EXACT [] synonym: "Dejerine-Sottas syndrome, autosomal dominant" EXACT [] synonym: "Dejerine-Sottas syndrome, autosomal recessive" EXACT [] synonym: "DSN" EXACT [] synonym: "DSS" EXACT [] synonym: "hereditary motor and sensory neuropathy 3" EXACT [] synonym: "hereditary motor and sensory neuropathy type III" EXACT [] synonym: "HMSN3" EXACT [] synonym: "HMSN type III" EXACT [] synonym: "hypertrophic neuropathy of Dejerine Sottas" EXACT [] synonym: "PRX-RELATED CONDITION" BROAD [] xref: GARD:9204 xref: MIM:145900 xref: MONDO:0007790 xref: NCI:C133087 xref: ORDO:64748 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050541 name: Charcot-Marie-Tooth disease type 4 def: "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"] synonym: "Charcot-Marie-Tooth disease, type IV" EXACT [] synonym: "Charcot-Marie-Tooth, type 4" EXACT [] synonym: "hereditary motor and sensory neuropathy" EXACT [] synonym: "hereditary motor and sensory neuropathy 4" EXACT [] xref: GARD:12440 xref: ORDO:64749 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050542 name: Charcot-Marie-Tooth disease type X def: "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"] synonym: "Charcot-Marie-Tooth neuropathy X" EXACT [] synonym: "Charcot-Marie-Tooth, X-linked" EXACT [] xref: ORDO:64747 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050543 name: Charcot-Marie-Tooth disease intermediate type def: "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16775371 "DO"] synonym: "AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE" NARROW [] synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [] synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [] synonym: "Charcot-Marie-Tooth, intermediate" RELATED [] is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050544 name: hypermethioninemia alt_id: MIM:250850 def: "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)" [http://en.wikipedia.org/wiki/Hypermethioninemia "DO"] synonym: "Deficiency of Methionine Adenosyltransferase" EXACT [] synonym: "Hepatic Methionine Adenosyltransferase Deficiency" EXACT [] synonym: "Hypermethioninemia, Isolated Persistent" EXACT [] synonym: "MAT DEFICIENCY" EXACT [] synonym: "MAT I/III DEFICIENCY" EXACT [] synonym: "methionine adenosyltransferase deficiency" EXACT [] synonym: "methionine adenosyltransferase deficiency, autosomal dominant" NARROW [] synonym: "methionine adenosyltransferase deficiency, autosomal recessive" NARROW [] synonym: "methionine adenosyltransferase I/III deficiency" EXACT [] synonym: "Methioninemia" EXACT [] synonym: "S-Adenosylhomocysteine Hydrolase Deficiency" EXACT [] xref: EFO:0009069 xref: MESH:C564683 xref: NCI:C123435 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050545 name: visceral heterotaxy alt_id: MIM:208530 def: "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO)" [http://en.wikipedia.org/wiki/Situs_ambiguus "DO"] synonym: "asplenia syndrome" EXACT [] synonym: "asplenia syndromes" EXACT [] synonym: "asplenia with cardiovascular anomalies" EXACT [] synonym: "bilateral right-sidedness sequence" EXACT [] synonym: "GDF1-RELATED CONDITION" BROAD [] synonym: "GDF1-RELATED DISORDERS" BROAD [] synonym: "heterotaxia" EXACT [] synonym: "heterotaxia syndrome" EXACT [] synonym: "heterotaxy syndrome" EXACT [] synonym: "heterotaxy syndromes" EXACT [] synonym: "HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Left Atrial Isomerism" EXACT [] synonym: "left atrial isomerisms" EXACT [] synonym: "Left Atrial Isomerism with Polysplenia" EXACT [] synonym: "POLYASPLENIA" NARROW [] synonym: "Polysplenia Syndrome" EXACT [] synonym: "Polysplenia Syndromes" EXACT [] synonym: "RAI" EXACT [] synonym: "situs ambiguus" EXACT [] synonym: "situs ambiguus viscerum" EXACT [] synonym: "situs ambiguus viscerums" EXACT [] synonym: "situs ambiguus with asplenia" EXACT [] synonym: "situs ambiguus with polysplenia" EXACT [] synonym: "VAH, autosomal recessive" NARROW [] synonym: "visceral heterotaxies" EXACT [] xref: EFO:0009081 xref: GARD:10875 xref: MESH:D059446 xref: MIM:PS306955 xref: ORDO:450 is_a: DOID:0080015 ! physical disorder is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:2529 ! splenic disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050546 name: congenital adrenal insufficiency alt_id: MESH:C566131 alt_id: MIM:613743 def: "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)" [https://en.wikipedia.org/wiki/Adrenal_insufficiency "DO"] synonym: "congenital adrenal insufficiency, with 46,XY sex reversal" EXACT [] synonym: "congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete" EXACT [] synonym: "P450scc deficiency" EXACT [] xref: MESH:C566130 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0050547 name: familial medullary thyroid carcinoma def: "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)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", https://www.omim.org/entry/155240 "DO"] synonym: "familial medullary thyroid cancer" EXACT [] synonym: "FMTC" EXACT [] synonym: "MEN2A and FMTC" EXACT [] synonym: "MTC" EXACT [] synonym: "MTC1" EXACT [] xref: EFO:1001957 xref: MESH:C536911 xref: MIM:155240 xref: MONDO:0007958 is_a: DOID:0050430 ! multiple endocrine neoplasia type 2A is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3973 ! medullary thyroid carcinoma [Term] id: DOID:0050548 name: hereditary sensory neuropathy alt_id: OMIA:001514 def: "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)" [http://omim.org/entry/616488?search=616488&highlight=616488 "DO"] synonym: "acral mutilation syndrome" NARROW [] synonym: "AMS" NARROW [] synonym: "congenital sensory neuropathies" EXACT [] synonym: "congenital sensory neuropathy" EXACT [] synonym: "hereditary sensory and autonomic neuropathies" EXACT [] synonym: "hereditary sensory and autonomic neuropathy" EXACT [] synonym: "hereditary sensory neuropathies" EXACT [] synonym: "hereditary sensory radicular neuropathy" EXACT [] synonym: "hereditary sensory radicular neuropathy, autosomal dominant" EXACT [] synonym: "hereditary sensory radicular neuropathy, autosomal recessive" EXACT [] synonym: "hereditary sensory radicular neuropathy, recessive form" EXACT [] synonym: "HSAN" EXACT [] synonym: "HSAN (hereditary sensory autonomic neuropathy)" EXACT [] xref: MESH:D009477 xref: MIM:PS162400 is_a: DOID:1389 ! polyneuropathy is_a: DOID:870 ! neuropathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0050553 name: proteasome-associated autoinflammatory syndrome 1 def: "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 mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21129723/ "DO", https://pubmed.ncbi.nlm.nih.gov/21852578/ "DO", https://pubmed.ncbi.nlm.nih.gov/21881205/ "DO", https://www.nomidalliance.org/candle.php "DO"] synonym: "ALDD" EXACT [] synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT [] synonym: "CANDLE" EXACT [] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [] synonym: "JMP syndrome" EXACT [] synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [] synonym: "Nakajo-Nishimura syndrome" EXACT [] synonym: "NKJO" EXACT [] synonym: "PRAAS1" EXACT [] synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" NARROW [] xref: GARD:10988 xref: GARD:3916 xref: GARD:3917 xref: MIM:256040 xref: NCI:C176619 xref: ORDO:324999 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0050554 name: X-linked sideroblastic anemia with ataxia alt_id: DOID:0060064 def: "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)" [https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia "DO"] synonym: "Anemia, sideroblastic, spinocerebellar ataxia" EXACT [] synonym: "ASAT" EXACT [] synonym: "Pagon Bird Detter syndrome" EXACT [] synonym: "SCAX6" EXACT [] synonym: "sex-linked hypochromic sideroblastic anemia" EXACT [] synonym: "sideroblastic anemia and ataxia" EXACT [] synonym: "sideroblastic anemia and spinocerebellar ataxia" EXACT [] synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [] synonym: "X-linked sideroblastic anaemia and ataxia" EXACT [] synonym: "X-linked sideroblastic anaemia with ataxia" EXACT [] synonym: "X-linked sideroblastic anemia and ataxia" EXACT [] synonym: "X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia" EXACT [] synonym: "XLSA-A" EXACT [] xref: GARD:668 xref: MESH:C536358 xref: MIM:301310 xref: MONDO:0010524 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8955 ! sideroblastic anemia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0050557 name: congenital muscular dystrophy def: "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)" [http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page "DO"] synonym: "CMD" EXACT [] synonym: "congenital muscular dystrophy, alpha-dystroglycan related" NARROW [] xref: GARD:9138 xref: ICD9CM:359.0 xref: ORDO:97242 is_a: DOID:0080015 ! physical disorder is_a: DOID:9884 ! muscular dystrophy created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050558 name: Ullrich congenital muscular dystrophy def: "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)" [https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy "DO"] synonym: "COL6A1-RELATED DISORDER" BROAD [] synonym: "late onset scleroatonic familial myopathy" EXACT [] synonym: "muscular dystrophy, Ullrich type" EXACT [] synonym: "scleroatonic muscular dystrophy" EXACT [] synonym: "UCMD" EXACT [] synonym: "Ullrich congenital muscular dystrophy, autosomal dominant" NARROW [] synonym: "Ullrich congenital muscular dystrophy, autosomal recessive" NARROW [] synonym: "Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2" NARROW [] synonym: "Ullrich disease" EXACT [] synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [] xref: GARD:4769 xref: MESH:C537521 xref: MIM:PS254090 xref: MONDO:0000355 xref: NCI:C123438 xref: OMIA:001967 xref: ORDO:75840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007896 ! Sclerosis is_a: DOID:9007913 ! Collagen VI-related Myopathy [Term] id: DOID:0050559 name: Fukuyama congenital muscular dystrophy def: "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)" [https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy "DO"] synonym: "FCMD" EXACT [] synonym: "Fukuyama CMD" EXACT [] synonym: "Fukuyama muscular dystrophy" EXACT [] synonym: "Fukuyama Syndrome" EXACT [] synonym: "Fukuyama type cerebromuscular dystrophy" EXACT [] synonym: "Fukuyama type congenital muscular dystrophy" EXACT [] synonym: "MDDGA4" EXACT [] synonym: "muscular dystrophy due to defective glycosylation of dystroglycan 4A" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4" EXACT [] synonym: "Walker-Warburg syndrome, FKTN-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT [] xref: GARD:6475 xref: MIM:253800 xref: ORDO:272 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0050560 name: Walker-Warburg syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome "DO"] synonym: "alpha dystroglycanopathies" EXACT [] synonym: "Chemke syndrome" EXACT [] synonym: "MEB (Muscle-Eye-Brain) Syndrome" EXACT [] synonym: "Muscle Eye Brain Disease" EXACT [] synonym: "Muscle-Eye-Brain Diseases" EXACT [] synonym: "Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation" EXACT [] synonym: "Pagon syndrome" EXACT [] synonym: "Pagon syndromes" EXACT [] synonym: "WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY" NARROW [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related" EXACT [] synonym: "Warburg syndrome" EXACT [] xref: GARD:2599 xref: MESH:D058494 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9003328 ! Cobblestone Lissencephaly [Term] id: DOID:0050561 name: Lennox-Gastaut syndrome alt_id: MESH:C535500 alt_id: MIM:606369 def: "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO)" [https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome "DO"] synonym: "childhood epileptic encephalopathy with diffuse slow spikes and waves" EXACT [] synonym: "epileptic encephalopathy, Lennox-Gastaut type" EXACT [] synonym: "Lennox-Gastaut syndromes" EXACT [] synonym: "Lennox syndrome" EXACT [] synonym: "macrocephaly and epileptic encephalopathy" EXACT [] xref: GARD:9912 xref: MESH:D065768 xref: NCI:C84816 xref: ORDO:2382 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:0050562 name: West syndrome alt_id: OMIA:001471 def: "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)" [https://rarediseases.org/rare-diseases/west-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24268986 "DO"] synonym: "Cryptogenic Infantile Spasm" EXACT [] synonym: "cryptogenic infantile spasms" EXACT [] synonym: "Cryptogenic West Syndrome" EXACT [] synonym: "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT" NARROW [] synonym: "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Hypsarrhythmia" EXACT [] synonym: "hypsarrhythmias" EXACT [] synonym: "Infantile Spasm" EXACT [] synonym: "Infantile Spasms" EXACT [] synonym: "Infantile spasms syndrome" RELATED [] synonym: "Jackknife Seizure" EXACT [] synonym: "Jackknife Seizures" EXACT [] synonym: "Lightning Attack" EXACT [] synonym: "Lightning Attacks" EXACT [] synonym: "Neonatal encephalopathy with seizures" NARROW [] synonym: "Nodding Spasm" EXACT [] synonym: "Nodding Spasms" EXACT [] synonym: "Salaam Attacks" EXACT [] synonym: "Salaam Seizures" EXACT [] synonym: "Spasmus Nutans" EXACT [] synonym: "Symptomatic Infantile Spasm" EXACT [] synonym: "symptomatic infantile spasms" EXACT [] synonym: "symptomatic West syndrome" EXACT [] xref: GARD:7887 xref: MESH:D013036 xref: NCI:C84788 xref: ORDO:3451 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:9001793 ! Generalized Epilepsy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050563 name: nonsyndromic deafness def: "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)" [http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness "DO", http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 "DO"] synonym: "isolated deafness" EXACT [] synonym: "non-syndromic genetic deafness" NARROW [] synonym: "Nonsyndromic Hearing Impairment" EXACT [] synonym: "Nonsyndromic Hearing Loss" EXACT [] synonym: "nonsyndromic hearing loss and deafness" EXACT [] synonym: "nonsyndromic hearing loss and deafness, autosomal recessive" NARROW [] synonym: "nonsyndromic hereditary hearing loss" EXACT [] synonym: "undifferentiated deafness" EXACT [] xref: EFO:0009076 xref: MESH:C580334 is_a: DOID:9008681 ! Deafness [Term] id: DOID:0050564 name: autosomal dominant nonsyndromic deafness def: "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"] synonym: "autosomal dominant deafness" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT" EXACT [] synonym: "AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA" EXACT [] synonym: "DOMINANT PROGRESSIVE SENSORINEURAL HEARING LOSS" NARROW [] xref: MIM:PS124900 xref: ORDO:90635 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050565 name: autosomal recessive nonsyndromic deafness alt_id: MIM:607197 def: "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"] comment: OMIM:607197 is an older phenotype record for this disease. synonym: "autosomal recessive deafness" EXACT [] synonym: "AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB" EXACT [] xref: MESH:C564609 xref: MIM:PS220290 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050566 name: X-linked nonsyndromic deafness def: "A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"] synonym: "X-linked deafness" EXACT [] xref: MIM:PS304500 xref: ORDO:90625 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050567 name: orofacial cleft def: "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)" [https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO", https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html "DO"] synonym: "CLEFT LIP/PALATE" EXACT [] synonym: "cleft lip or cleft palate" EXACT [] synonym: "FACIAL CLEFT" NARROW [] synonym: "MEDIAN CLEFT LIP AND PALATE" NARROW [] synonym: "nonsyndromic cleft lip/palate" EXACT [] synonym: "nonsyndromic orofacial cleft" EXACT [] synonym: "OFC" EXACT [] synonym: "orofacial clefting" EXACT [] synonym: "orofacial clefts" EXACT [] xref: MIM:PS119530 xref: MONDO:0000358 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9297 ! lip disease created_by: rgd creation_date: 2017-03-22T00:00:00Z [Term] id: DOID:0050568 name: spondylocostal dysostosis def: "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)" [http://en.wikipedia.org/wiki/Spondylocostal_dysostosis "DO", http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis "DO"] synonym: "costovertebral segmentation anomalies" EXACT [] synonym: "spondylothoracic dysplasia" EXACT [] xref: GARD:12174 xref: GARD:6798 xref: MIM:PS277300 xref: NCI:C125598 xref: ORDO:1797 xref: ORDO:2311 is_a: DOID:0060564 ! spinal disease is_a: DOID:1934 ! dysostosis created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050569 name: Seckel syndrome def: "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)" [http://en.wikipedia.org/wiki/Seckel_syndrome "DO"] synonym: "bird-headed dwarfism" EXACT [] synonym: "Harper's syndrome" EXACT [] synonym: "microcephalic primordial dwarfism" EXACT [] synonym: "SCKL" EXACT [] synonym: "Virchow-Seckel dwarfism" EXACT [] xref: GARD:8562 xref: MIM:PS210600 xref: NCI:C125488 xref: ORDO:808 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050570 name: congenital disorder of glycosylation type I def: "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO", https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"] synonym: "congenital disorder of glycosylation type 1" EXACT [] xref: EFO:0005545 xref: MIM:PS212065 is_a: DOID:5212 ! congenital disorder of glycosylation created_by: rgd creation_date: 2016-11-01T00:00:00Z [Term] id: DOID:0050571 name: congenital disorder of glycosylation type II def: "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO"] synonym: "CDG II" EXACT [] synonym: "CDGII" EXACT [] synonym: "congenital disorder of glycosylation type 2" EXACT [] xref: EFO:0005546 xref: MESH:C535747 xref: MIM:PS212066 is_a: DOID:5212 ! congenital disorder of glycosylation created_by: rgd creation_date: 2016-11-01T00:00:00Z [Term] id: DOID:0050572 name: cone-rod dystrophy def: "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)" [http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy "DO"] synonym: "autosomal recessive cone rod dystrophy" NARROW [] synonym: "cone-rod degeneration" EXACT [] synonym: "cone rod degenerations" EXACT [] synonym: "cone-rod dystrophies" EXACT [] synonym: "cone-rod dystrophy, dominant" NARROW [] synonym: "cone-rod dystrophy, recessive" NARROW [] synonym: "cone-rod retinal dystrophies" EXACT [] synonym: "cone rod retinal dystrophy" EXACT [] synonym: "CORD" EXACT [] synonym: "CRD" EXACT [] xref: EFO:0020029 xref: GARD:10790 xref: MESH:D000071700 xref: MIM:PS120970 xref: ORDO:1872 is_a: DOID:0050177 ! monogenic disease is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050573 name: 2-hydroxyglutaric aciduria alt_id: OMIA:001371 def: "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)" [http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria "DO", http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"] synonym: "2-Hga" EXACT [] synonym: "2-hydroxyglutaricaciduria" EXACT [] xref: GARD:10761 xref: MESH:C535306 xref: NCI:C128187 is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050574 name: L-2-hydroxyglutaric aciduria def: "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)" [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"] synonym: "L2HGA" EXACT [] synonym: "L2HGDH-RELATED CONDITION" EXACT [] synonym: "L-2-hydroxyglutaric acidemia" EXACT [] synonym: "L-2-hydroxyglutaricacidemia" EXACT [] xref: GARD:10472 xref: MIM:236792 xref: MONDO:0009370 xref: ORDO:79314 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria is_a: DOID:2786 ! cerebellar disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050575 name: D-2-hydroxyglutaric aciduria def: "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)" [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"] synonym: "D-2-alpha hydroxyglutaric aciduria" EXACT [] synonym: "D2HGA" EXACT [] xref: GARD:5661 xref: MIM:PS600721 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050576 name: Senior-Loken syndrome def: "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)" [https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome "DO"] synonym: "juvenile nephronophthisis with Leber amaurosis" EXACT [] synonym: "Renal Dysplasia And Retinal Aplasia" EXACT [] synonym: "Renal dysplasia retinal aplasia" EXACT [] synonym: "Renal-retinal syndrome" EXACT [] synonym: "Senior-Løken syndrome" EXACT [] xref: GARD:322 xref: MESH:C537580 xref: MIM:PS266900 xref: NCI:C168588 xref: ORDO:3156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis is_a: DOID:225 ! syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0050577 name: cranioectodermal dysplasia def: "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)" [https://en.wikipedia.org/wiki/Sensenbrenner_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/20817137/ "DO"] synonym: "Levin syndrome" EXACT [] synonym: "Sensenbrenner syndrome" EXACT [] xref: MESH:C562966 xref: MIM:PS218330 xref: NCI:C129305 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0050578 name: occult macular dystrophy def: "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)" [http://www.iovs.org/content/41/2/513.full.pdf "DO"] synonym: "OCMD" EXACT [] synonym: "OMD" EXACT [] synonym: "RP1L1-RELATED CONDITION" BROAD [] xref: MIM:613587 xref: RDO:0009914 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0050579 name: glycogen storage disease XV def: "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)" [https://www.omim.org/entry/613507 "DO"] synonym: "glycogenin deficiency" EXACT [] synonym: "glycogen storage disease 15" EXACT [] synonym: "glycogen storage disease type XV" EXACT [] synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" EXACT [] synonym: "GSD15" EXACT [] synonym: "GSD XV" EXACT [] synonym: "GYG1 deficiency" EXACT [] xref: MIM:613507 xref: MONDO:0013291 xref: ORDO:263297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0050580 name: hereditary lymphedema alt_id: MESH:C565432 def: "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Milroy%27s_disease "DO"] synonym: "congenital familial lymphedema" EXACT [] synonym: "congenital hereditary lymphedema" EXACT [] synonym: "congenital hereditary lymphedemas" EXACT [] synonym: "congenital recessive lymphedema" NARROW [] synonym: "hereditary lymphedemas" EXACT [] synonym: "PCL" EXACT [] synonym: "primary congenital lymphedema" EXACT [] synonym: "primary congenital lymphedemas" EXACT [] xref: GARD:7220 xref: ICD9CM:757.0 xref: MIM:PS153100 is_a: DOID:4977 ! lymphedema is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050581 name: brachydactyly def: "A dysostosis characterized by short fingers and toes. (DO)" [http://en.wikipedia.org/wiki/Brachydactyly "DO"] synonym: "Brachydactylia" EXACT [] synonym: "brachydactylias" EXACT [] synonym: "Brachydactylies" EXACT [] synonym: "Brachydactylism" EXACT [] synonym: "brachydactylisms" EXACT [] xref: GARD:11913 xref: MESH:D059327 xref: ORDO:294937 is_a: DOID:1934 ! dysostosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0050584 name: gummatous syphilis def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/31437386 "DO"] xref: RDO:9002603 is_a: DOID:8200 ! tertiary syphilis created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050585 name: congenital generalized lipodystrophy def: "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO)" [https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy "DO"] synonym: "Berardinelli Seip congenital lipodystrophy" EXACT [] synonym: "Berardinelli Seip syndrome" EXACT [] synonym: "Berardinelli syndrome" EXACT [] synonym: "Brunzell syndrome" EXACT [] synonym: "Brunzell Syndrome (with Bone Cysts)" EXACT [] synonym: "congenital generalized lipodystrophies" EXACT [] synonym: "congenital lipoatrophic diabetes" EXACT [] synonym: "generalized lipodystrophies" EXACT [] synonym: "generalized lipodystrophy" EXACT [] synonym: "Seip syndrome" EXACT [] synonym: "total lipodystrophies" EXACT [] synonym: "total lipodystrophy" EXACT [] xref: EFO:1000681 xref: GARD:13388 xref: MESH:D052497 xref: MIM:PS608594 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0080298 ! complete generalized lipodystrophy [Term] id: DOID:0050587 name: trichotillomania alt_id: MIM:613229 def: "An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO)" [https://en.wikipedia.org/wiki/Trichotillomania "DO"] synonym: "trichotillomanias" EXACT [] synonym: "TTM" EXACT [] xref: GARD:7803 xref: MESH:D014256 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:0050588 name: muscular dystrophy-dystroglycanopathy type B1 alt_id: DOID:9001544 def: "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)" [https://www.omim.org/entry/613155 "DO"] synonym: "CMD due to dystroglycanopathy" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B1" EXACT [] synonym: "congenital muscular dystrophy, POMT1-related" EXACT [] synonym: "MDDGB1" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), type B, 1" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1" EXACT [] synonym: "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" EXACT [] xref: MIM:613155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050589 name: inflammatory bowel disease def: "An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO)" [http://en.wikipedia.org/wiki/Inflammatory_bowel_disease "DO", http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 "DO"] synonym: "CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO" RELATED [] synonym: "EARLY-ONSET INFLAMMATORY BOWEL DISEASE" NARROW [] synonym: "Inflammatory bowel disease 1, susceptibility to" RELATED [] synonym: "inflammatory bowel diseases" EXACT [] synonym: "regional enteritis" NARROW [] synonym: "ulcerative colitis" NARROW [] synonym: "VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE" NARROW [] xref: EFO:0003767 xref: MESH:D015212 xref: MIM:PS266600 xref: MIM:PS614328 xref: MONDO:0005265 xref: NCI:C3138 is_a: DOID:2326 ! gastroenteritis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0050590 name: severe congenital neutropenia def: "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)" [https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO"] synonym: "congenital neutropenia" EXACT [] synonym: "infantile genetic agranulocytosis" EXACT [] synonym: "primary neutropenia" EXACT [] synonym: "severe infantile genetic agranulocytosis" EXACT [] synonym: "severe infantile genetic neutropenia" EXACT [] xref: GARD:13592 xref: MIM:PS202700 xref: ORDO:42738 xref: ORDO:486 xref: ORDO:86788 is_a: DOID:0080015 ! physical disorder is_a: DOID:1227 ! neutropenia created_by: rgd creation_date: 2016-01-14T00:00:00Z [Term] id: DOID:0050591 name: tooth agenesis alt_id: MIM:147330 def: "A tooth disease characterized by failure to develop one or more missing teeth. (DO)" [http://en.wikipedia.org/wiki/Hypodontia "DO"] synonym: "familial tooth agenesis" EXACT [] synonym: "hypodontia" EXACT [] synonym: "oligodontia" EXACT [] synonym: "reduced number of teeth" EXACT [] synonym: "selective tooth agenesis" EXACT [] xref: EFO:0005410 xref: MIM:PS106600 xref: NCI:C172328 xref: ORDO:2227 xref: ORDO:99798 is_a: DOID:9009007 ! Tooth Abnormalities created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050592 name: asphyxiating thoracic dystrophy def: "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)" [https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy "DO"] synonym: "asphyxiating thoracic dystrophy (ATD)" EXACT [] synonym: "Jeune's syndrome" EXACT [] synonym: "Jeune syndrome" EXACT [] synonym: "Jeune thoracic dysplasia" EXACT [] synonym: "Jeune thoracic dystrophy" EXACT [] synonym: "short rib-polydactyly syndrome" EXACT [] synonym: "short rib polydactyly syndrome, Majewski type" EXACT [] synonym: "short rib-polydactyly syndromes" EXACT [] synonym: "short ribs" NARROW [] synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [] synonym: "thoracic pelvic phalangeal dystrophy" EXACT [] xref: MESH:D012779 xref: MIM:PS208500 xref: NCI:C84794 xref: ORDO:474 is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050593 name: primary congenital glaucoma def: "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)" [https://ghr.nlm.nih.gov/condition/early-onset-glaucoma "DO"] xref: NCI:C150251 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1686 ! glaucoma is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050594 name: glycogen storage disease IX def: "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25266922/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17689125 "DO"] synonym: "Glycogen storage disease 9" EXACT [] synonym: "Gsd Ix" EXACT [] synonym: "Gsdix" EXACT [] synonym: "Phk Deficiency" EXACT [] synonym: "Phosphorylase B Kinase Deficiency" EXACT [] synonym: "Phosphorylase Kinase Deficiency" EXACT [] xref: MESH:C580130 xref: RDO:0015892 is_a: DOID:1168 ! familial hyperlipidemia is_a: DOID:2747 ! glycogen storage disease is_a: DOID:409 ! liver disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0050596 name: taeniasis def: "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)" [http://en.wikipedia.org/wiki/Taeniasis "DO"] synonym: "beef tapeworm infection" EXACT [] synonym: "infection by Taeniarhynchus saginatus" EXACT [] synonym: "taenia infection" EXACT [] synonym: "taenia infections" EXACT [] synonym: "taenia saginata infectious disease" EXACT [] synonym: "taeniases" EXACT [] xref: EFO:1001433 xref: ICD10CM:B68.1 xref: ICD9CM:123.2 xref: MESH:D013622 is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:0050597 name: intestinal schistosomiasis def: "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)" [http://en.wikipedia.org/wiki/Schistosomiasis "DO"] synonym: "intestinal schistosomiases" EXACT [] xref: EFO:1001419 xref: ICD10CM:B65.1 xref: ICD10CM:B65.2 xref: ICD9CM:120.1 xref: ICD9CM:120.2 xref: NCI:C35364 xref: ORDO:1247 is_a: DOID:1395 ! schistosomiasis is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050598 name: extrapulmonary tuberculosis def: "A tuberculosis that occurs at body sites other than the lung. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] xref: MESH:D000092225 is_a: DOID:399 ! tuberculosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050599 name: abdominal tuberculosis def: "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)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] is_a: DOID:0050598 ! extrapulmonary tuberculosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050600 name: ABCD syndrome def: "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)" [http://en.wikipedia.org/wiki/ABCD_syndrome "DO", http://omim.org/entry/600501 "DO"] synonym: "ABCDS" EXACT [] synonym: "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [] xref: MESH:C535334 xref: MIM:600501 xref: MONDO:0010895 xref: ORDO:918 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0050601 name: ADULT syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/16114047/ "DO"] synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [] synonym: "pigment anomaly ectrodactyly hypodontia" EXACT [] synonym: "propping Zerres syndrome" EXACT [] xref: GARD:384 xref: MESH:C538052 xref: MIM:103285 xref: MONDO:0007072 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:13714 ! anodontia is_a: DOID:13929 ! lacrimal duct obstruction is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0050602 name: triple-A syndrome alt_id: MIM:231550 def: "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)" [https://ghr.nlm.nih.gov/condition/triple-a-syndrome "DO"] synonym: "AAAS" EXACT [] synonym: "AAA syndrome" EXACT [] synonym: "ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME" EXACT [] synonym: "achalasia-addisonianism-alacrima syndrome" EXACT [] synonym: "Achalasia Addisonianism Alacrimia Syndrome" EXACT [] synonym: "Achalasia-Addisonian Syndrome" EXACT [] synonym: "Achalasia-Alacrima Syndrome" EXACT [] synonym: "Achalasia alacrimia syndrome" EXACT [] synonym: "Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima" EXACT [] synonym: "ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME" NARROW [] synonym: "Alacrima-Achalasia-Addisonianism" EXACT [] synonym: "Alacrima-achalasia-adrenal insufficiency neurologic disorder" EXACT [] synonym: "Allgrove syndrome" EXACT [] synonym: "glucocorticoid deficiency and achalasia" EXACT [] synonym: "GLUCOCORTICOID DEFICIENCY WITH ACHALASIA" EXACT [] synonym: "hypoadrenalism with achalasia" EXACT [] synonym: "infantile achalasia with alacrima" EXACT [] xref: EFO:1001997 xref: GARD:457 xref: MESH:C536008 xref: MONDO:0009279 xref: NCI:C35710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:9164 ! achalasia [Term] id: DOID:0050603 name: acheiropody alt_id: MIM:200500 def: "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)" [https://en.wikipedia.org/wiki/Acheiropodia "DO"] synonym: "acheiropodia" EXACT [] synonym: "ACHP" EXACT [] synonym: "Brazilian type acheiropody" EXACT [] synonym: "Horn-Kolb syndrome" EXACT [] xref: GARD:376 xref: MESH:C536014 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0050604 name: acrocapitofemoral dysplasia alt_id: MIM:607778 def: "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia "DO"] synonym: "ACFD" EXACT [] synonym: "IHH-RELATED CONDITION" BROAD [] xref: GARD:10605 xref: MESH:C564334 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0050605 name: acrodermatitis enteropathica alt_id: MIM:201100 def: "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)" [https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica "DO"] synonym: "Acrodermatitis enteropathica zinc deficiency type" EXACT [] synonym: "AEZ" EXACT [] synonym: "hereditary acrodermatitis enteropathica" NARROW [] synonym: "SLC39A4-RELATED CONDITION" EXACT [] xref: GARD:5723 xref: MESH:C538178 xref: NCI:C128802 is_a: DOID:2722 ! acrodermatitis is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9003921 ! Zinc Deficiency [Term] id: DOID:0050606 name: acrokeratosis verruciformis def: "A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)" [https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis "DO"] synonym: "acrokeratosis verruciformis of Hopf" EXACT [] synonym: "AKV" EXACT [] synonym: "Hopf acrokeratosis verruciformis" EXACT [] synonym: "Hopf disease" EXACT [] xref: EFO:1000666 xref: MIM:101900 xref: MONDO:0007048 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:161 ! keratosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050608 name: Askin's tumor def: "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO)" [https://en.wikipedia.org/wiki/Askin%27s_tumor "DO"] synonym: "Askin's tumour" EXACT [] synonym: "Askin tumor" EXACT [] synonym: "Askin tumour" EXACT [] xref: EFO:1000095 xref: MESH:C563168 is_a: DOID:3369 ! Ewing sarcoma is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:0050610 name: oral cavity carcinoma in situ def: "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)" [https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/ "DO"] is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:403 ! mouth disease is_a: DOID:8618 ! oral cavity cancer is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050611 name: pharynx carcinoma in situ def: "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer "DO"] xref: RDO:9003566 is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050612 name: gallbladder carcinoma in situ def: "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO)" [https://en.wikipedia.org/wiki/Gallbladder_cancer "DO", https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html "DO"] synonym: "gall bladder carcinoma in situ" EXACT [] is_a: DOID:4948 ! gallbladder carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050613 name: bile duct carcinoma in situ def: "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO)" [https://en.wikipedia.org/wiki/Cholangiocarcinoma "DO"] xref: RDO:9003568 is_a: DOID:4897 ! bile duct carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050614 name: bronchus carcinoma in situ def: "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10858385 "DO"] xref: RDO:9003570 is_a: DOID:3904 ! bronchus carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050615 name: respiratory system cancer def: "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm "DO"] xref: RDO:9002222 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9003744 ! Respiratory Tract Neoplasms created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:0050619 name: paranasal sinus cancer def: "A respiratory system cancer that is located_in the paranasal sinuses. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 "DO"] synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6019] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [] synonym: "cancer of paranasal sinus" EXACT [] synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCI2004_11_17:C8193] synonym: "mucoepidermoid carcinoma of accessory sinus" EXACT [NCI2004_11_17:C6018] synonym: "paranasal sinus adenocarcinoma" EXACT [] synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] synonym: "paranasal sinus cancers" EXACT [] synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [] synonym: "paranasal sinus squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of paranasal sinus" RELATED [] xref: EFO:1000454 xref: NCI:C6014 xref: NCI:C6017 xref: NCI:C6018 xref: NCI:C6019 xref: NCI:C8193 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9000118 ! Paranasal Sinus Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050620 name: infiltrating renal pelvis transitional cell carcinoma def: "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO)" [https://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"] is_a: DOID:5974 ! renal pelvis transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0050621 name: respiratory system benign neoplasm def: "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)" [http://en.wikipedia.org/wiki/Respiratory_system "DO"] xref: RDO:9002406 is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9003744 ! Respiratory Tract Neoplasms [Term] id: DOID:0050622 name: reproductive organ benign neoplasm def: "An organ system benign neoplasm that is located_in reproductive system organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:15 ! reproductive system disease is_a: DOID:9007150 ! Urogenital Neoplasms is_a: DOID:9008651 ! reproductive system neoplasm [Term] id: DOID:0050623 name: bladder benign neoplasm def: "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/ "DO"] is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:9009116 ! Urinary Bladder Neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050624 name: gastrointestinal system benign neoplasm def: "An organ system benign neoplasm located_in gastrointestinal tract organs. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9006796 ! Gastrointestinal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050625 name: biliary tract benign neoplasm def: "A hepatobiliary benign neoplasm located_in the biliary tract. (DO)" [http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract "DO"] synonym: "biliary tract neoplasms" EXACT [] synonym: "extrahepatic bile duct neoplasm" EXACT [] synonym: "neoplasm of extrahepatic bile ducts" EXACT [] synonym: "tumor of the extrahepatic bile duct" EXACT [] xref: EFO:0003891 xref: MESH:D001661 xref: NCI:C4441 is_a: DOID:3117 ! hepatobiliary benign neoplasm is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:0050626 name: gastrointestinal neuroendocrine tumor def: "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO", http://www.cancer.gov/dictionary?CdrID=44904 "DO"] synonym: "gastrointestinal neuroendocrine tumour" EXACT [] synonym: "malignant gastrointestinal neuroendocrine tumor" EXACT [] synonym: "malignant gastrointestinal neuroendocrine tumour" EXACT [] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0050628 name: advanced sleep phase syndrome def: "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO)" [http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome "DO"] synonym: "circadian rhythm sleep disorders" EXACT [] synonym: "disturbed nyctohemeral rhythm" EXACT [] synonym: "disturbed nyctohemeral rhythms" EXACT [] synonym: "familial advanced sleep-phase syndrome" EXACT [] synonym: "non 24 hour sleep wake disorder" EXACT [] synonym: "nonorganic sleep wake cycle disorders" EXACT [] synonym: "Shift Work Sleep Disorder" EXACT [] synonym: "Shift-Work Sleep Disorders" EXACT [] synonym: "sleep-wake cycle disorder" EXACT [] synonym: "sleep wake cycle disorders" EXACT [] synonym: "sleep-wake schedule disorder" EXACT [] synonym: "sleep wake schedule disorders" EXACT [] xref: MESH:D020178 xref: MIM:PS604348 xref: ORDO:164736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:535 ! sleep disorder is_a: DOID:9002111 ! Dyssomnias is_a: DOID:9004980 ! Chronobiology Disorders is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:0050629 name: Aicardi-Goutieres syndrome def: "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)" [http://omim.org/entry/225750 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO", https://agsaa.org/about-ags "DO"] synonym: "AGS" EXACT [] synonym: "Cree encephalitis" EXACT [] synonym: "encephalopathy with basal ganglia calcification" EXACT [] synonym: "familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" EXACT [] synonym: "pseudotoxoplasmosis syndrome" EXACT [] xref: GARD:575 xref: ICD10CM:G31.8 xref: MESH:C535607 xref: MIM:PS225750 xref: ORDO:51 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0050630 name: Aland Island eye disease alt_id: MIM:300600 def: "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)" [https://www.omim.org/entry/300600 "DO"] synonym: "AIED" EXACT [] synonym: "Forsius-Eriksson syndrome" EXACT [] synonym: "Forsius-Eriksson type ocular albinism" EXACT [] synonym: "ocular albinism, type II" EXACT [] xref: GARD:10574 xref: MESH:C562664 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9001386 ! Albinism [Term] id: DOID:0050631 name: Allan-Herndon-Dudley syndrome def: "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO)" [http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome "DO", http://omim.org/entry/300523 "DO"] synonym: "AHDS" EXACT [] synonym: "Allan-Herndon syndrome" EXACT [] synonym: "MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency" EXACT [] synonym: "mental retardation and muscular atrophy" EXACT [] synonym: "Monocarboxylate Transporter 8 (Mct8) Deficiency" EXACT [] synonym: "Monocarboxylate transporter-8 deficiency" EXACT [] synonym: "T3 resistance" EXACT [] synonym: "triiodothyronine resistance" EXACT [] synonym: "X-linked mental retardation with hypotonia" EXACT [] xref: GARD:5617 xref: MESH:C537047 xref: MIM:300523 xref: MONDO:0010354 xref: NCI:C118843 xref: ORDO:59 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050632 name: oculocutaneous albinism def: "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO)" [http://en.wikipedia.org/wiki/Oculocutaneous_albinism "DO", http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism "DO"] synonym: "tyrosinase-negative albinism" EXACT [] synonym: "tyrosinase-positive albinism" EXACT [] synonym: "yellow mutant albinism" EXACT [] xref: GARD:10958 xref: MESH:D016115 xref: MIM:PS203100 xref: ORDO:55 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001386 ! Albinism [Term] id: DOID:0050633 name: ocular albinism 1 alt_id: DOID:9005467 alt_id: MESH:C537863 alt_id: MIM:300500 def: "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)" [https://ghr.nlm.nih.gov/condition/ocular-albinism "DO"] synonym: "GPR143-RELATED CONDITION" BROAD [] synonym: "Nettleship-Falls type ocular albinism" EXACT [] synonym: "OA1" EXACT [] synonym: "ocular albinism" EXACT [] synonym: "Ocular Albinism Type 1" EXACT [] synonym: "ocular albinism type I" EXACT [] xref: MESH:D016117 xref: NCI:C118785 is_a: DOID:9001386 ! Albinism [Term] id: DOID:0050634 name: alopecia universalis alt_id: MIM:203655 def: "An alopecia characterized by the complete loss of hair on the scalp and body. (DO)" [https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis "DO"] synonym: "alopecia universalis congenita" EXACT [] synonym: "ALUNC" EXACT [] synonym: "generalized atrichia" EXACT [] xref: GARD:614 xref: MESH:C537055 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:987 ! alopecia [Term] id: DOID:0050635 name: alternating hemiplegia of childhood def: "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO)" [http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood "DO", http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood "DO"] synonym: "AHC" EXACT [] synonym: "alternating hemiplegia" EXACT [] synonym: "alternating hemiplegia syndrome" EXACT [] xref: GARD:11 xref: ICD10CM:G98 xref: MESH:C536589 xref: MIM:PS104290 xref: ORDO:2131 is_a: DOID:10969 ! hemiplegia [Term] id: DOID:0050636 name: familial visceral amyloidosis def: "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO)" [https://en.wikipedia.org/wiki/Familial_renal_amyloidosis "DO"] synonym: "AFIB AMYLOIDOSIS" NARROW [] synonym: "AMYLD2" NARROW [] synonym: "amyloidosis 8" EXACT [] synonym: "amyloidosis VIII" EXACT [] synonym: "cardiac and cutaneous amyloidosis" NARROW [] synonym: "familial renal amyloidosis" NARROW [] synonym: "German type amyloidosis" EXACT [] synonym: "hereditary systemic amyloidosis-2" NARROW [] synonym: "Ostertag type amyloidosis" EXACT [] synonym: "systemic nonneuropathic amyloidosis" EXACT [] xref: GARD:8282 xref: MESH:C538249 xref: MIM:105200 xref: MONDO:0007099 xref: ORDO:85450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004492 ! Familial Amyloidosis [Term] id: DOID:0050637 name: Finnish type amyloidosis alt_id: MIM:105120 def: "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)" [https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type "DO"] synonym: "AGel amyloidosis" EXACT [] synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" EXACT [] synonym: "amyloidosis 5" EXACT [] synonym: "amyloidosis due to mutant gelsolin" EXACT [] synonym: "amyloidosis V" EXACT [] synonym: "cerebral amyloid angiopathy, GSN-related" EXACT [] synonym: "CORNEAL DYSTROPHY, LATTICE TYPE II" NARROW [] synonym: "Familial Amyloidosis, Finnish Type" EXACT [] synonym: "Familial Amyloid Polyneuropathy Type Iv" EXACT [] synonym: "Finnish type familial amyloid neuropathy" EXACT [] synonym: "gelsolin amyloidosis" EXACT [] synonym: "gelsolin-related Amyloidosis" EXACT [] synonym: "GSN-RELATED CONDITION" EXACT [] synonym: "Kymenlaakso syndrome" EXACT [] synonym: "lattice corneal dystrophy associated with familial systemic amyloidosis" EXACT [] synonym: "lattice corneal dystrophy, Gelsolin type" EXACT [] synonym: "lattice dystrophy of the cornea with hereditary generalized amyloidosis" EXACT [] synonym: "LCD2" NARROW [] synonym: "Meretoja's syndrome" EXACT [] synonym: "Meretoja syndrome" EXACT [] synonym: "Meretoja type amyloidosis" EXACT [] xref: GARD:2339 xref: MESH:C537459 xref: ORDO:85448 is_a: DOID:0050639 ! primary cutaneous amyloidosis is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:0050638 name: transthyretin amyloidosis alt_id: DOID:0050761 alt_id: MIM:105210 def: "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)" [http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis "DO", http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 "DO", http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 "DO", https://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19372706 "DO"] synonym: "amyloid cardiomyopathy, transthyretin-related" NARROW [] synonym: "amyloidogenic transthyretin amyloidosis" EXACT [] synonym: "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED" NARROW [] synonym: "AMYLOID POLYNEUROPATHY, FAMILIAL" NARROW [] synonym: "ATTR amyloidosis" EXACT [] synonym: "ATTRm amyloidosis" EXACT [] synonym: "Corino de Andrade's disease" EXACT [] synonym: "familial transthyretin amyloidosis" EXACT [] synonym: "familial transthyretin cardiac amyloidosis" EXACT [] synonym: "hereditary amyloidosis, transthyretin-related" EXACT [] synonym: "hereditary amyloidosis, transthyretin-related, modifier of" RELATED [] synonym: "leptomeningeal FAP amyloidosis, transthyretin-related" NARROW [] synonym: "paramyloidosis" EXACT [] synonym: "TTR amyloidosis" EXACT [] xref: EFO:0004129 xref: GARD:656 xref: ICD10CM:E85.82 xref: MESH:C567782 xref: ORDO:85447 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:114 ! heart disease is_a: DOID:9001512 ! Familial Amyloid Polyneuropathies [Term] id: DOID:0050639 name: primary cutaneous amyloidosis alt_id: MESH:C562643 def: "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19663869 "DO"] synonym: "Amyloidosis IX" EXACT [] synonym: "familial cutaneous lichen amyloidosis" EXACT [] synonym: "familial lichen amyloidosis" EXACT [] synonym: "familial primary localized cutaneous amyloidosis" EXACT [] synonym: "PCA" EXACT [] synonym: "primary localized cutaneous amyloidosis" EXACT [] xref: GARD:132 xref: MESH:C562642 xref: MIM:PS105250 xref: ORDO:137807 xref: ORDO:353220 is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050640 name: anauxetic dysplasia 1 alt_id: MIM:607095 def: "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16252239/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"] synonym: "ANXD" EXACT [] synonym: "ANXD1" EXACT [] synonym: "Spondylometaepiphyseal dysplasia, Anauxetic type" EXACT [] synonym: "Spondylometaepiphyseal dysplasia, Menger type" EXACT [] xref: GARD:9657 xref: MESH:C538256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia [Term] id: DOID:0050641 name: Rh deficiency syndrome alt_id: MESH:C564833 alt_id: MIM:268150 def: "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)" [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/3103426 "DO"] synonym: "RHAG-RELATED CONDITION" BROAD [] synonym: "RHD NEGATIVE" NARROW [] synonym: "RH-mod syndrome" EXACT [] synonym: "RHN" EXACT [] synonym: "Rh-null disease" EXACT [] synonym: "RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE" EXACT [] synonym: "Rh-null, regulator type" EXACT [] synonym: "Rh-null syndrome" EXACT [] xref: GARD:12916 xref: MESH:C562717 is_a: DOID:225 ! syndrome is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:0050642 name: hypochromic microcytic anemia def: "A microcytic anemia characterized by paler than normal blood cells. (DO)" [http://en.wikipedia.org/wiki/Hypochromic_anemia "DO"] xref: MESH:C536357 xref: RDO:0001912 is_a: DOID:11252 ! microcytic anemia is_a: DOID:11759 ! hypochromic anemia [Term] id: DOID:0050644 name: arterial calcification of infancy def: "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)" [http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification "DO", http://www.omim.org/entry/208000 "DO"] synonym: "ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY" NARROW [] synonym: "GACI" EXACT [] synonym: "generalized arterial calcification in infancy" EXACT [] synonym: "generalized arterial calcification, of infancy" EXACT [] synonym: "idiopathic infantile arterial calcification" EXACT [] synonym: "IIAC" EXACT [] synonym: "infantile arteriosclerosis" EXACT [] synonym: "occlusive infantile arteriopathy" EXACT [] xref: GARD:8380 xref: MESH:C537440 xref: MIM:PS208000 xref: ORDO:51608 is_a: DOID:0050828 ! artery disease is_a: DOID:9006332 ! Vascular Calcification [Term] id: DOID:0050645 name: arterial tortuosity syndrome alt_id: MIM:208050 def: "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)" [http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome "DO", http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome "DO"] synonym: "arterial tortuosity" EXACT [] synonym: "ATS" EXACT [] xref: GARD:774 xref: MESH:C565942 is_a: DOID:225 ! syndrome is_a: DOID:65 ! connective tissue disease is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050646 name: distal arthrogryposis def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)" [http://en.wikipedia.org/wiki/Arthrogryposis "DO"] synonym: "DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT" NARROW [] synonym: "distal arthrogryposis multiplex congenita" EXACT [] xref: GARD:786 xref: MIM:PS108120 xref: ORDO:1147 xref: ORDO:97120 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:66 ! muscle tissue disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050647 name: Arts syndrome alt_id: MIM:301835 def: "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)" [http://ghr.nlm.nih.gov/condition/arts-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK2591/ "DO", http://www.omim.org/entry/301835 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301738 "DO"] synonym: "ARTS" EXACT [] synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [] synonym: "lethal ataxia-deafness-optic atrophy" EXACT [] synonym: "lethal ataxia with deafness and optic atrophy" EXACT [] synonym: "MRXS18" EXACT [] synonym: "MRXSARTS" EXACT [] synonym: "syndromic X-linked mental retardation 18" EXACT [] synonym: "syndromic X-linked mental retardation Arts type" EXACT [] xref: GARD:8756 xref: MESH:C535388 xref: ORDO:1187 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9005165 ! Deaf-Blind Disorders [Term] id: DOID:0050648 name: atelosteogenesis def: "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)" [https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17 "DO", https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1 "DO"] xref: MIM:PS108720 is_a: DOID:0060564 ! spinal disease is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050649 name: atransferrinemia alt_id: MIM:209300 def: "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)" [https://en.wikipedia.org/wiki/Atransferrinemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/29969719 "DO", https://www.omim.org/entry/209300 "DO"] synonym: "Congenital Atransferrinemia" EXACT [] synonym: "Familial hypotransferrinemia" EXACT [] synonym: "TRANSFERRIN VARIANT CHI" RELATED [] xref: GARD:9595 xref: MESH:C538259 xref: NCI:C125693 xref: ORDO:1195 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0050650 name: familial atrial fibrillation def: "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO)" [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation "DO"] synonym: "ATFB" EXACT [] synonym: "familial atrial fibrillations" EXACT [] xref: GARD:9740 xref: MIM:PS608583 xref: ORDO:334 is_a: DOID:0060224 ! atrial fibrillation created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050651 name: atrioventricular septal defect alt_id: MIM:606215 def: "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)" [http://en.wikipedia.org/wiki/Atrioventricular_septal_defect "DO", http://www.cdc.gov/ncbddd/heartdefects/avsd.html "DO"] synonym: "Atrioventricular Canal Defect" EXACT [] synonym: "atrioventricular septal defect, somatic" NARROW [] synonym: "atrioventricular septal defect, susceptibility to, 1" NARROW [] synonym: "AVCD" EXACT [] synonym: "AVC defect" EXACT [] synonym: "AVSD" EXACT [] synonym: "AVSD1" NARROW [] synonym: "ECD" EXACT [] synonym: "endocardial cushion defect" EXACT [] xref: GARD:802 xref: ICD10CM:Q21.2 xref: ICD9CM:745.6 xref: MESH:C562831 xref: MIM:PS606215 xref: NCI:C101029 xref: ORDO:98722 is_a: DOID:1657 ! ventricular septal defect is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0050654 name: Baller-Gerold syndrome alt_id: MIM:218600 def: "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)" [http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome "DO", http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK1204/ "DO"] synonym: "BGS" EXACT [] synonym: "craniosynostosis-radial aplasia syndrome" EXACT [] synonym: "craniosynostosis with radial defects" EXACT [] xref: GARD:1602 xref: MESH:C536788 xref: ORDO:1223 is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0050655 name: Bamforth-Lazarus syndrome alt_id: MIM:241850 def: "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)" [https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome "DO"] synonym: "athyroidal hypothyroidism with spiky hair and cleft palate" EXACT [] synonym: "Bamforth syndrome" EXACT [] synonym: "BAMLAZ" EXACT [] synonym: "Hypothyroidism cleft palate" EXACT [] synonym: "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate" EXACT [] synonym: "thyroidal hypothyroidism with spiky hair and cleft palate" EXACT [] xref: MESH:C537901 is_a: DOID:1459 ! hypothyroidism is_a: DOID:421 ! hair disease is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050656 name: pseudo-TORCH syndrome 1 alt_id: MESH:C537905 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20727516 "DO"] synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [] synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [] synonym: "Baraitser-Reardon syndrome" EXACT [] synonym: "bilateral band-like calcification with polymicrogyria" EXACT [] synonym: "BLC-PMG" EXACT [] synonym: "BLCPMG" EXACT [] synonym: "Microcephaly intracranial calcification" EXACT [] synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [] synonym: "PTORCH1" EXACT [] xref: GARD:12426 xref: MIM:251290 xref: ORDO:1229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:9002061 ! Pseudo-TORCH Syndrome [Term] id: DOID:0050657 name: Bannayan-Riley-Ruvalcaba syndrome def: "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)" [https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome "DO", https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/31062505 "DO"] synonym: "Bannayan-Zonana syndrome" EXACT [] synonym: "BRRS" EXACT [] synonym: "BZS" EXACT [] synonym: "Cowden syndrome 1" EXACT [] synonym: "CWS1" EXACT [] synonym: "macrocephaly, multiple lipomas and hemangiomata" EXACT [] synonym: "macrocephaly, pseudopapilledema and multiple hemangiomas" EXACT [] synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" EXACT [] synonym: "Riley-Smith syndrome" EXACT [] synonym: "RMSS" EXACT [] synonym: "Ruvalcaba Myhre Smith syndrome" EXACT [] xref: GARD:5887 xref: MIM:158350 xref: NCI:C3939 xref: ORDO:109 is_a: DOID:255 ! hemangioma is_a: DOID:6457 ! Cowden syndrome is_a: DOID:9003816 ! Macrocephaly created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050658 name: Bart-Pumphrey syndrome alt_id: MIM:149200 def: "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)" [https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome "DO"] synonym: "BAPS" EXACT [] synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [] synonym: "knuckle pads, leukonychia, deafness, and keratosis palmoplantaris" EXACT [] xref: MESH:C537210 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050659 name: biotin-responsive basal ganglia disease alt_id: MIM:607483 def: "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)" [https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK169615/ "DO"] synonym: "BBGD" EXACT [] synonym: "BBTGD" EXACT [] synonym: "biotin ganglia disease, biotin-thiamine responsive" EXACT [] synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT [] synonym: "BTBGD" EXACT [] synonym: "ENCEPHALOPATHY, THIAMINE-RESPONSIVE" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" EXACT [] synonym: "THMD2" EXACT [] xref: MESH:C537658 is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0050660 name: Beare-Stevenson cutis gyrata syndrome alt_id: MIM:123790 def: "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)" [https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome "DO"] synonym: "Beare-Stevenson syndrome" EXACT [] synonym: "BSTVS" EXACT [] synonym: "cutis gyrata syndrome of Beare and Stevenson" EXACT [] synonym: "cutis gyrata syndrome of Beare-Stevenson" EXACT [] xref: GARD:332 xref: MESH:C565129 xref: NCI:C123813 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:3136 ! scalp dermatosis is_a: DOID:3138 ! acanthosis nigricans is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:0050661 name: vitelliform macular dystrophy def: "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)" [http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy "DO"] synonym: "vitelliform dystrophy" EXACT [] synonym: "vitelliform macular dystrophies" EXACT [] xref: GARD:10120 xref: MESH:D057826 xref: MIM:PS153840 xref: NCI:C118788 xref: ORDO:1243 xref: ORDO:99000 is_a: DOID:4448 ! macular degeneration is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050662 name: bestrophinopathy def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/24859690 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25545482 "DO", https://www.omim.org/entry/611809 "DO"] synonym: "ARB" EXACT [] synonym: "autosomal recessive bestrophinopathy" EXACT [] synonym: "Multifocal retinopathy 1" NARROW [] synonym: "Multifocal retinopathy 2" NARROW [] synonym: "Multifocal retinopathy 3" NARROW [] xref: GARD:10301 xref: MESH:C567518 xref: MIM:611809 xref: MONDO:0012733 xref: OMIA:001444 xref: OMIA:001553 xref: OMIA:001554 xref: ORDO:139455 is_a: DOID:4448 ! macular degeneration is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050663 name: Bethlem myopathy def: "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)" [https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy "DO"] synonym: "Benign Congenital Muscular Dystrophy" EXACT [] synonym: "Benign Congenital Myopathy with Contractures" EXACT [] synonym: "BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE" NARROW [] xref: GARD:873 xref: MESH:C535436 xref: MIM:PS158810 is_a: DOID:9006836 ! Contracture is_a: DOID:9007913 ! Collagen VI-related Myopathy [Term] id: DOID:0050664 name: Bietti crystalline corneoretinal dystrophy alt_id: MIM:210370 def: "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)" [https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy "DO"] synonym: "BCD" EXACT [] synonym: "Bietti's crystalline corneoretinal dystrophy" EXACT [] synonym: "Bietti's crystalline dystrophy" EXACT [] synonym: "Bietti Crystalline Dystrophy" EXACT [] synonym: "Bietti Crystalline Retinopathy" EXACT [] synonym: "Bietti tapetoretinal degeneration with marginal corneal dystrophy" EXACT [] synonym: "CYP4V2-related disorder" EXACT [] xref: GARD:10050 xref: MESH:C535440 xref: NCI:C179299 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:5679 ! retinal disease is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0050665 name: fetal alcohol syndrome def: "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)" [http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome "DO", http://www.cdc.gov/ncbddd/fasd/facts.html "DO"] xref: ICD10CM:Q86.0 xref: MONDO:0016011 xref: NCI:C84713 xref: ORDO:1915 is_a: DOID:0050696 ! fetal alcohol spectrum disorder is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050666 name: partial fetal alcohol syndrome def: "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)" [http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm "DO", http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO"] is_a: DOID:0050696 ! fetal alcohol spectrum disorder is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050667 name: alcohol-related neurodevelopmental disorder def: "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO"] synonym: "ARND" EXACT [] synonym: "static encephalopathy" EXACT [] is_a: DOID:0050696 ! fetal alcohol spectrum disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050668 name: alcohol-related birth defects def: "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO)" [http://www.cdc.gov/ncbddd/fasd/facts.html "DO"] synonym: "alcohol fetopathy" EXACT [] synonym: "alcohol-related birth defect" EXACT [] synonym: "ARBD" EXACT [] xref: MESH:C576203 is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0050669 name: spastic cerebral palsy def: "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)" [http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html "DO"] synonym: "spastic cerebral palsies" EXACT [] is_a: DOID:1969 ! cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050670 name: ataxic cerebral palsy def: "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)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO", http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html "DO"] synonym: "ACP" EXACT [] synonym: "ataxic cerebral palsy, autosomal recessive" EXACT [] synonym: "hypotonic cerebral palsy" EXACT [] xref: GARD:10451 xref: MESH:C562856 xref: MIM:605388 xref: MONDO:0000397 is_a: DOID:1969 ! cerebral palsy is_a: DOID:630 ! genetic disease is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0050671 name: female breast cancer def: "A breast cancer that develops from breast tissue in females. (DO)" [https://en.wikipedia.org/wiki/Breast_cancer "DO", https://www.ncbi.nlm.nih.gov/pubmed/24703317 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25002350 "DO"] is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0050672 name: dyskinetic cerebral palsy def: "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)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO"] synonym: "athetoid dyskinetic cerebral palsy" EXACT [] synonym: "dyskinetic cerebral palsies" EXACT [] xref: RDO:9003331 is_a: DOID:1969 ! cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050673 name: mixed cerebral palsy def: "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)" [http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy "DO", http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html "DO"] synonym: "mixed cerebral palsies" EXACT [] is_a: DOID:1969 ! cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050674 name: congenital bile acid synthesis defect def: "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)" [https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12543708 "DO"] synonym: "CBA" EXACT [] synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" EXACT [] xref: EFO:0009039 xref: ICD10CM:K76.8 xref: MIM:PS607765 xref: ORDO:485631 is_a: DOID:0080015 ! physical disorder is_a: DOID:13580 ! cholestasis is_a: DOID:1701 ! steroid inherited metabolic disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050675 name: Birk-Barel syndrome alt_id: MIM:612292 def: "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)" [https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy "DO"] synonym: "BIBARS" EXACT [] synonym: "Birk-Barel intellectual disability dysmorphism syndrome" EXACT [] synonym: "Birk-Barel mental retardation dysmorphism syndrome" EXACT [] synonym: "mental retardation with hypotonia and facial dysmorphism" EXACT [] xref: GARD:10358 xref: MESH:C567357 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050676 name: Birt-Hogg-Dube syndrome alt_id: MIM:135150 alt_id: MIM:620459 alt_id: OMIA:001335 def: "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)" [https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ "DO"] synonym: "BHD" EXACT [] synonym: "BHD1" NARROW [] synonym: "BHD2" NARROW [] synonym: "Birt-Hogg-Dube syndrome 1" NARROW [] synonym: "Birt-Hogg-Dube syndrome 2" NARROW [] synonym: "Birt-Hogg-Dubé syndrome" EXACT [] synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [] synonym: "Hornstein-Birt-Hogg-Dubé syndrome" EXACT [] synonym: "Hornstein-Knickenberg syndrome" EXACT [] synonym: "renal cystadenocarcinoma and nodular dermatofibrosis" EXACT [] xref: EFO:0700020 xref: EFO:1001273 xref: GARD:2322 xref: MESH:D058249 xref: MONDO:0007607 xref: NCI:C28244 xref: ORDO:122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0050677 name: Bjornstad syndrome alt_id: MIM:262000 def: "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)" [https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ "DO"] synonym: "BCS1L-related disorder" BROAD [] synonym: "BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY" NARROW [] synonym: "BJS" EXACT [] synonym: "deafness and pili torti, Bjornstad type" EXACT [] synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [] synonym: "pili torti and nerve deafness" EXACT [] synonym: "pili torti-deafness syndrome" EXACT [] synonym: "pili torti-sensorineural hearing loss" EXACT [] synonym: "PTD" EXACT [] xref: GARD:22 xref: MESH:C537633 xref: ORDO:123 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0050678 name: Blau syndrome alt_id: MIM:186580 def: "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)" [http://en.wikipedia.org/wiki/Blau_syndrome "DO", http://www.omim.org/entry/186580?search=186580&highlight=186580 "DO"] synonym: "ACUG" EXACT [] synonym: "arthrocutaneouveal granulomatosis" EXACT [] synonym: "BLAUS" EXACT [] synonym: "familial granulomatosis, Blau type" EXACT [] synonym: "Familial Juvenile Systemic Granulomatosis" EXACT [] synonym: "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT [] synonym: "Jabs syndrome" EXACT [] synonym: "pediatric granulomatous arthritis" EXACT [] synonym: "synovitis granulomatous with uveitis and cranial neuropathies" EXACT [] xref: GARD:304 xref: MESH:C538157 xref: NCI:C116794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13141 ! uveitis is_a: DOID:2703 ! synovitis is_a: DOID:848 ! arthritis is_a: DOID:9002517 ! Early-Onset Sarcoidosis [Term] id: DOID:0050679 name: blue cone monochromacy def: "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)" [http://omim.org/entry/303700 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 "DO"] synonym: "BCM" EXACT [] synonym: "blue cone monochromatism" EXACT [] synonym: "CBBM CONE DYSTROPHY 5, X-LINKED" NARROW [] synonym: "COD5" NARROW [] synonym: "color blindness blue mono cone monochromatic type" EXACT [] synonym: "cone dystrophy 5, X-linked" RELATED [] xref: GARD:917 xref: MESH:C536238 xref: MIM:303700 xref: MONDO:0010563 xref: ORDO:15 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0050680 name: Boomerang dysplasia alt_id: MIM:112310 def: "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)" [https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia "DO"] synonym: "Boomerang-like skeletal dysplasia" EXACT [] synonym: "Dwarfism with short, bowed, rigid limbs and characteristic facies" EXACT [] synonym: "FLNB-related spectrum disorder" BROAD [] synonym: "Piepkorn dysplasia" EXACT [] xref: GARD:933 xref: MESH:C536573 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050681 name: Borjeson-Forssman-Lehmann syndrome alt_id: MIM:301900 def: "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)" [http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1 "DO", http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html "DO"] synonym: "BFLS" EXACT [] synonym: "BORJ" EXACT [] synonym: "Borjeson syndrome" EXACT [] synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [] synonym: "mental deficiency, epilepsy and endocrine disorders" EXACT [] synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT [] synonym: "mental retardation, epilepsy, and endocrine disorders" EXACT [] synonym: "MRXSBFL" EXACT [] synonym: "syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type" EXACT [] xref: GARD:936 xref: MESH:C536575 xref: NCI:C157122 xref: ORDO:127 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9970 ! obesity [Term] id: DOID:0050682 name: Athabaskan brainstem dysgenesis syndrome alt_id: MIM:601536 def: "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18412118 "DO", https://www.omim.org/entry/601536 "DO"] synonym: "ABDS" EXACT [] synonym: "Athabaskan brainstem dysgenesis" EXACT [] synonym: "Bosley-Salih-Alorainy syndrome" RELATED [] synonym: "BSAS" RELATED [] synonym: "HOXA1-RELATED CONDITION" EXACT [] synonym: "Navajo brainstem syndrome" EXACT [] xref: MESH:C535397 xref: ORDO:69739 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1279 ! ocular motility disease is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:936 ! brain disease [Term] id: DOID:0050683 name: Bothnia retinal dystrophy alt_id: MIM:607475 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11176989 "DO", https://www.omim.org/entry/607475 "DO"] synonym: "Vasterbotten dystrophy" EXACT [] xref: MESH:C564392 is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050684 name: Bowen-Conradi syndrome alt_id: MIM:211180 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/19463982 "DO", https://www.omim.org/entry/211180 "DO"] synonym: "Bowen-Conradi Hutterite syndrome" EXACT [] synonym: "Bowen Hutterite syndrome" EXACT [] synonym: "BWCNS" EXACT [] xref: GARD:5950 xref: MESH:C537081 xref: ORDO:1270 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050685 name: small cell carcinoma alt_id: MIM:182280 def: "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [http://en.wikipedia.org/wiki/Small_cell_carcinoma "DO"] synonym: "oat cell carcinoma" EXACT [] synonym: "oat cell carcinomas" EXACT [] synonym: "Salivary Gland Small Cell Carcinoma" NARROW [] synonym: "SCCL" EXACT [] synonym: "SCLC" EXACT [] synonym: "SCLC1" EXACT [] synonym: "small cell carcinoma, intermediate cell" EXACT [] synonym: "small cell carcinomas" EXACT [] xref: EFO:0008524 xref: EFO:1000519 xref: ICDO:8041/3 xref: MESH:D018288 xref: NCI:C4099 is_a: DOID:305 ! carcinoma [Term] id: DOID:0050686 name: organ system cancer def: "A cancer that is classified based on the organ it starts in. (DO)" [https://www.cancer.gov/types/by-body-location "DO"] is_a: DOID:162 ! cancer is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:0050687 name: cell type cancer def: "A cancer that is classified by the type of cell from which it is derived. (DO)" [http://en.wikipedia.org/wiki/Cancer "DO"] synonym: "cancer by histologic type" EXACT [] is_a: DOID:162 ! cancer is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:0050688 name: anal canal cancer def: "A large intestine cancer that is located_in the terminal part of the large intestine. (DO)" [http://en.wikipedia.org/wiki/Anal_canal "DO"] is_a: DOID:14110 ! anus cancer is_a: DOID:5672 ! large intestine cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:0050689 name: brachydactyly-syndactyly syndrome alt_id: MIM:610713 def: "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236141 "DO", https://www.omim.org/entry/610713 "DO"] synonym: "BDSD" EXACT [] synonym: "BDSDO" NARROW [] synonym: "brachydactyly-syndactyly-oligodactyly syndrome" NARROW [] xref: MESH:C565193 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:0050690 name: brachyolmia alt_id: DOID:9008880 def: "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10968486 "DO"] synonym: "brachyrachia" EXACT [] xref: GARD:10903 xref: MESH:C537098 xref: ORDO:1293 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050691 name: branchiooculofacial syndrome def: "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO)" [http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK55063/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract "DO"] synonym: "BOFS" EXACT [] synonym: "BOF syndrome" EXACT [] synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging" EXACT [] synonym: "branchio oculo facial syndrome" EXACT [] synonym: "hemangiomatous branchial clefts lip pseudocleft syndrome" EXACT [] synonym: "lip pseudocleft hemangiomatous branchial cyst syndrome" EXACT [] synonym: "TFAP2A-RELATED CONDITION" EXACT [] xref: GARD:3212 xref: MIM:113620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050692 name: Brody myopathy alt_id: MIM:601003 def: "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)" [https://ghr.nlm.nih.gov/condition/brody-myopathy "DO", https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions "DO"] synonym: "autosomal recessive Brody myopathy" EXACT [] synonym: "Brody disease" EXACT [] xref: GARD:9158 xref: MESH:C536607 is_a: DOID:2106 ! myotonia congenita is_a: DOID:913 ! atrophic muscular disease [Term] id: DOID:0050693 name: Brooke-Spiegler syndrome alt_id: MIM:132700 alt_id: MIM:601606 alt_id: MIM:605041 def: "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)" [https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome "DO"] synonym: "Ancell-Spiegler cylindromas" EXACT [] synonym: "Brooke-Fordyce trichoepitheliomas" EXACT [] synonym: "BRSS" EXACT [] synonym: "BSS" EXACT [] synonym: "CYLD cutaneous syndrome" EXACT [] synonym: "dermal eccrine cylindroma" EXACT [] synonym: "dermal eccrine cylindromas" EXACT [] synonym: "EAC" EXACT [] synonym: "Epithelioma adenoides cysticum of Brooke" EXACT [] synonym: "familial cylindromatosis" EXACT [] synonym: "FAMILIAL MULTIPLE TRICHOEPITHELIOMATA" EXACT [] synonym: "Familial Trichoepithelioma" EXACT [] synonym: "hereditary multiple benign cystic epithelioma" EXACT [] synonym: "MFT1" EXACT [] synonym: "multiple familial trichoepithelioma" EXACT [] synonym: "multiple familial trichoepithelioma 1" EXACT [] synonym: "SBS" EXACT [] synonym: "Turban tumors" EXACT [] synonym: "Turban tumor syndrome" EXACT [] xref: GARD:10179 xref: MESH:C536611 xref: ORDO:79493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0050694 name: Brown-Vialetto-Van Laere syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/21110228 "DO"] synonym: "pontobulbar palsy and neurosensory deafness" EXACT [] synonym: "pontobulbar palsy with deafness" EXACT [] synonym: "progressive bulbar palsy with sensorineural deafness" EXACT [] xref: MESH:C537111 xref: MIM:PS211530 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:681 ! progressive bulbar palsy [Term] id: DOID:0050695 name: malignant pleural solitary fibrous tumor def: "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17075563 "DO"] is_a: DOID:5158 ! pleural cancer [Term] id: DOID:0050696 name: fetal alcohol spectrum disorder def: "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)" [http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO", http://www.cdc.gov/ncbddd/fasd/facts.html "DO"] synonym: "alcohol related birth defects" EXACT [] synonym: "FAE (Fetal Alcohol Effects)" EXACT [] synonym: "FASD" EXACT [] synonym: "fetal alcohol syndrome" EXACT [] synonym: "Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction" EXACT [] xref: MESH:D063647 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:251 ! alcohol-induced mental disorder is_a: DOID:9001984 ! Fetal Diseases [Term] id: DOID:0050697 name: chorioamnionitis def: "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Chorioamnionitis "DO", http://www.merriam-webster.com/medlineplus/Chorioamnionitis "DO"] synonym: "amnionitides" EXACT [] synonym: "amnionitis" EXACT [] synonym: "chorioamnionitides" EXACT [] xref: EFO:0009948 xref: MESH:D002821 is_a: DOID:780 ! placenta disease is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9005304 ! Fetal Membranes, Premature Rupture [Term] id: DOID:0050698 name: funisitis def: "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO)" [http://en.wikipedia.org/wiki/Funisitis "DO"] synonym: "funisitides" EXACT [] is_a: DOID:0050697 ! chorioamnionitis is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050699 name: Dent disease def: "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO)" [http://en.wikipedia.org/wiki/Dent%27s_disease "DO", http://ghr.nlm.nih.gov/condition/dent-disease "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652 "DO", https://www.dentdisease.org/ "DO"] synonym: "Dent's disease" EXACT [] synonym: "Dents disease" EXACT [] synonym: "X-linked hypercalciuric nephrocalcinosis" EXACT [] xref: GARD:13105 xref: MESH:D057973 xref: MIM:PS300009 xref: NCI:C123260 xref: ORDO:1652 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:447 ! renal tubular transport disease is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:0050700 name: cardiomyopathy def: "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)" [http://en.wikipedia.org/wiki/Cardiomyopathy "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "DO"] synonym: "cardiomyopathies" EXACT [] synonym: "cardiomyopathy with or without skeletal myopathy" EXACT [] synonym: "Familial Cardiomyopathy" NARROW [] synonym: "HYPOKINETIC NON-DILATED CARDIOMYOPATHY" NARROW [] synonym: "idiopathic cardiomyopathy" NARROW [] synonym: "Myocardial Disease" EXACT [] synonym: "Myocardial Diseases" EXACT [] synonym: "Myocardiopathies" EXACT [] synonym: "Myocardiopathy" EXACT [] synonym: "PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY" RELATED [] synonym: "Primary Cardiomyopathies" EXACT [] synonym: "Primary Cardiomyopathy" EXACT [] synonym: "Primary Myocardial Disease" EXACT [] synonym: "Primary Myocardial Diseases" EXACT [] synonym: "PRKAG2 Cardiac Syndrome" NARROW [] synonym: "Secondary Cardiomyopathies" EXACT [] synonym: "Secondary Cardiomyopathy" EXACT [] synonym: "secondary myocardial disease" EXACT [] synonym: "secondary myocardial diseases" EXACT [] synonym: "TXNRD2-ASSOCIATED CARDIOMYOPATHY" NARROW [] synonym: "viral cardiomyopathy" NARROW [] xref: EFO:0000318 xref: EFO:0000767 xref: EFO:0002629 xref: EFO:0002945 xref: ICD10CM:I42 xref: ICD9CM:425 xref: ICD9CM:425.9 xref: MESH:D009202 xref: NCI:C34830 xref: NCI:C53654 is_a: DOID:114 ! heart disease [Term] id: DOID:0050701 name: electroclinical syndrome def: "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)" [http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] synonym: "electro-clinical syndrome" EXACT [] synonym: "TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY" NARROW [] is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050702 name: neonatal period electroclinical syndrome def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22182677 "DO"] is_a: DOID:0050701 ! electroclinical syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050703 name: infancy electroclinical syndrome def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] is_a: DOID:0050701 ! electroclinical syndrome is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050704 name: childhood electroclinical syndrome alt_id: RDO:9002706 def: "An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] xref: RDO:9002463 is_a: DOID:0070309 ! absence epilepsy created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050705 name: adolescence-adult electroclinical syndrome def: "An electroclinical syndrome with onset in adolescence and adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] xref: RDO:9002464 is_a: DOID:0070309 ! absence epilepsy created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050706 name: variable age at onset electroclinical syndrome alt_id: RDO:9002465 def: "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/ "DO"] xref: RDO:9002709 is_a: DOID:0050701 ! electroclinical syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050708 name: early onset absence epilepsy def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24099057 "DO"] is_a: DOID:0050704 ! childhood electroclinical syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050709 name: early infantile epileptic encephalopathy alt_id: DOID:2481 def: "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)" [http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "DO"] synonym: "DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY" EXACT [] synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT [] xref: EFO:1000643 xref: GARD:9255 xref: NCI:C122814 xref: ORDO:1934 is_a: DOID:0050702 ! neonatal period electroclinical syndrome created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050710 name: 3-methylcrotonyl-CoA carboxylase deficiency def: "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)" [http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency "DO", http://omim.org/entry/210200 "DO"] synonym: "3-MCC deficiency" EXACT [] synonym: "3MCC deficiency" EXACT [] synonym: "3-methylcrotonyl-Coenzyme A carboxylase deficiency" EXACT [] synonym: "3-Methylcrotonylglycinuria" EXACT [] synonym: "BMCC deficiency" EXACT [] synonym: "Deficiency of Methylcrotonoyl-Coa Carboxylase" EXACT [] synonym: "MCC deficiency" EXACT [] synonym: "methylcrotonyl-Coa carboxylase deficiency" EXACT [] xref: GARD:10954 xref: MIM:PS210200 xref: NCI:C98674 xref: ORDO:6 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:9267 ! urea cycle disorder created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050711 name: aceruloplasminemia def: "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)" [http://en.wikipedia.org/wiki/Aceruloplasminemia "DO", http://omim.org/entry/604290?search=604290&highlight=604290 "DO"] synonym: "CERULOPLASMIN DEFICIENCY" NARROW [] synonym: "DEFICIENCY OF FERROXIDASE" EXACT [] synonym: "familial apoceruloplasmin deficiency" EXACT [] synonym: "hereditary hypoceruloplasminemia" EXACT [] synonym: "hypoceruloplasminemia" NARROW [] synonym: "NBIA10" EXACT [] synonym: "neurodegeneration with brain iron accumulation-10" EXACT [] synonym: "systemic hemosiderosis due to aceruloplasminemia" NARROW [] xref: GARD:9499 xref: MESH:C536004 xref: MIM:604290 xref: NCI:C189281 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2351 ! iron metabolism disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0050712 name: AGAT deficiency alt_id: MIM:612718 def: "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)" [http://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency "DO"] synonym: "arginine:glycine amidinotransferase deficiency" EXACT [] synonym: "CCDS3" EXACT [] synonym: "cerebral creatine deficiency syndrome 3" EXACT [] synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [] synonym: "GATM deficiency" EXACT [] synonym: "GATM-RELATED CONDITION" BROAD [] synonym: "L-Arginine:Glycine Aminidotransferase Deficiency" EXACT [] xref: MESH:C567192 xref: NCI:C198575 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050798 ! cerebral creatine deficiency syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:92 ! speech disorder [Term] id: DOID:0050713 name: COX deficiency, infantile mitochondrial myopathy def: "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO)" [https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO"] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [] synonym: "fatal infantile COX deficiency" EXACT [] synonym: "fatal infantile cytochrome C oxidase deficiency" EXACT [] synonym: "fatal infantile encephalocardiomyopathy" EXACT [] xref: ORDO:1561 is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease is_a: DOID:890 ! mitochondrial encephalomyopathy created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050715 name: methylmalonic aciduria and homocystinuria type cblC alt_id: MIM:277400 def: "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)" [http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO"] synonym: "Cobalamin C deficiency" EXACT [] synonym: "cobalamin-C methylmalonic acidemia and homocystinuria" EXACT [] synonym: "MAHCC" EXACT [] synonym: "methylmalonic acidemia and homocystinemia" NARROW [] synonym: "methylmalonic acidemia and homocystinuria, cblC type" EXACT [] synonym: "methylmalonic Acidemia with Homocystinuria" NARROW [] synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, cblC type" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, cblC type, digenic" NARROW [] synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase" EXACT [] xref: MESH:C537359 xref: NCI:C142174 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:0080578 ! digenic disease is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050716 name: methylmalonic aciduria and homocystinuria type cblD alt_id: MIM:277410 def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)" [http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18385497 "DO"] synonym: "Cobalamin D deficiency" EXACT [] synonym: "HOMOCYSTINURIA, cblD TYPE, VARIANT 1" NARROW [] synonym: "MAHCD" EXACT [] synonym: "Methylmalonic Acidemia and Homocystinuria, CblD Type" EXACT [] synonym: "METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE" EXACT [] synonym: "METHYLMALONIC ACIDEMIA, cblH TYPE" NARROW [] synonym: "METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD" EXACT [] synonym: "METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2" NARROW [] synonym: "methylmalonic aciduria with homocystinuria, cblD type" EXACT [] xref: MESH:C564743 xref: NCI:C183524 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050717 name: methylmalonic aciduria and homocystinuria type cblF alt_id: MIM:277380 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/21910240 "DO"] synonym: "cblF" EXACT [] synonym: "Cobalamin F deficiency" EXACT [] synonym: "cobalamin F disease" EXACT [] synonym: "defect in lysosomal release of cobalamin" EXACT [] synonym: "MAHCF" EXACT [] synonym: "Methylmalonic Acidemia and Homocystinuria, CblF Type" EXACT [] synonym: "Methylmalonic Aciduria due to Vitamin B12-Release Defect" EXACT [] synonym: "Vitamin B12 Lysosomal Release Defect" EXACT [] synonym: "vitamin B12 storage disease" EXACT [] xref: MESH:C564747 xref: NCI:C183525 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050718 name: vitamin metabolic disorder def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_metabolism "DO"] xref: EFO:0005596 xref: RDO:9003867 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050719 name: cerebral folate receptor alpha deficiency alt_id: MIM:613068 def: "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)" [http://en.wikipedia.org/wiki/B_vitamins "DO", https://www.ncbi.nlm.nih.gov/pubmed/19732866 "DO"] synonym: "cerebral folate deficiency" EXACT [] synonym: "NCFTD" EXACT [] synonym: "neurodegeneration due to cerebral folate transport deficiency" EXACT [] xref: MESH:C567791 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0050720 name: ornithine translocase deficiency alt_id: MIM:238970 def: "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO)" [http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency "DO", http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx "DO"] synonym: "HHH" EXACT [] synonym: "HHHS" EXACT [] synonym: "HHH syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" EXACT [] synonym: "triple H syndrome" EXACT [] xref: MESH:C538380 xref: MONDO:0009393 xref: NCI:C129029 is_a: DOID:225 ! syndrome is_a: DOID:9008972 ! Hyperammonemia is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:0050721 name: serine deficiency def: "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15021249 "DO"] xref: MIM:PS256520 xref: RDO:9004040 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050722 name: PHGDH deficiency alt_id: MIM:601815 alt_id: RDO:0014928 def: "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)" [http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase "DO", http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 "DO", http://www.omim.org/entry/601815 "DO"] synonym: "PHGDHD" EXACT [] synonym: "phosphoglycerate dehydrogenase deficiency" EXACT [] xref: MESH:C566618 is_a: DOID:0050721 ! serine deficiency is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050723 name: PSAT deficiency alt_id: MIM:610992 def: "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)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ "DO", http://www.omim.org/entry/610992?search=610992&highlight=610992 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 "DO"] synonym: "Phosphoserine Aminotransferase Deficiency" EXACT [] synonym: "PSAT1-RELATED DISORDER" BROAD [] synonym: "PSATD" EXACT [] xref: MESH:C567032 is_a: DOID:0050721 ! serine deficiency is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050724 name: PSPH deficiency def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)" [http://en.wikipedia.org/wiki/PSPH "DO", http://www.omim.org/entry/614023 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 "DO"] synonym: "phosphoserine phosphatase deficiency" EXACT [] synonym: "PSPHD" EXACT [] xref: MIM:614023 is_a: DOID:0050721 ! serine deficiency is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050725 name: tyrosinemia type II def: "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)" [http://en.wikipedia.org/wiki/Tyrosinemia_type_II "DO", http://www.omim.org/entry/276600?search=276600&highlight=276600 "DO"] synonym: "hereditary tyrosinemia type II" EXACT [] synonym: "oculocutaneous tyrosinemia" EXACT [] synonym: "Richner-Hanhart syndrome" EXACT [] synonym: "Richner-Hanhart syndromes" EXACT [] synonym: "Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type" EXACT [] synonym: "type 2 tyrosinemia" EXACT [] synonym: "type 2 tyrosinemias" EXACT [] synonym: "type II tyrosinemias" EXACT [] synonym: "TYRSN2" EXACT [] xref: MIM:276600 xref: NCI:C129032 xref: ORDO:28378 is_a: DOID:37 ! skin disease is_a: DOID:409 ! liver disease is_a: DOID:9275 ! tyrosinemia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050726 name: tyrosinemia type I def: "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)" [http://en.wikipedia.org/wiki/Type_I_tyrosinemia "DO"] synonym: "hepatorenal tyrosinemia" EXACT [] synonym: "hepatorenal tyrosinemias" EXACT [] synonym: "hereditary tyrosinemia, type I" EXACT [] synonym: "type I hypertyrosinemia" EXACT [] synonym: "tyrosinemia type 1" EXACT [] synonym: "TYRSN1" EXACT [] xref: MIM:276700 xref: NCI:C98641 is_a: DOID:9275 ! tyrosinemia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050727 name: tyrosinemia type III def: "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO)" [http://en.wikipedia.org/wiki/Type_III_tyrosinemia "DO", http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia "DO"] synonym: "4 hydroxyphenol pyruvic acid oxidase deficiency disease" EXACT [] synonym: "4-hydroxyphenylpyruvate dioxygenase deficiencies" EXACT [] synonym: "4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT [] synonym: "4 hydroxyphenylpyruvate dioxygenase deficiency disease" EXACT [] synonym: "4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT [] synonym: "hereditary tyrosinemia, type III" EXACT [] synonym: "TYRSN3" EXACT [] xref: MIM:276710 is_a: DOID:9275 ! tyrosinemia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050728 name: glycogen metabolism disorder def: "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO)" [http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism "DO"] is_a: DOID:2978 ! carbohydrate metabolic disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050729 name: Chanarin-Dorfman syndrome alt_id: MIM:275630 def: "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)" [http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome "DO"] synonym: "CDS" EXACT [] synonym: "Chanarin-Dorfman disease" EXACT [] synonym: "DCS" EXACT [] synonym: "ichthyosiform erythroderma with leukocyte vacuolation" EXACT [] synonym: "ichthyotic neutral lipid storage disease" EXACT [] synonym: "neutral lipid storage disease" EXACT [] synonym: "neutral lipid storage disease with ichthyosis" EXACT [] synonym: "neutral lipid storage myopathy" EXACT [] synonym: "NLSDI" EXACT [] synonym: "triglyceride storage disease with ichthyosis" EXACT [] synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" EXACT [] xref: GARD:3979 xref: MESH:C536560 xref: ORDO:98907 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:0080000 ! muscular disease is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0050730 name: coenzyme Q10 deficiency disease def: "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)" [http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity "DO"] synonym: "COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE" NARROW [] synonym: "COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE" NARROW [] synonym: "coenzyme Q deficiency" EXACT [] synonym: "CoQ Deficiency" EXACT [] synonym: "primary coenzyme Q10 deficiency" EXACT [] synonym: "primary CoQ10 deficiency" EXACT [] synonym: "ubiquinone deficiency" EXACT [] xref: GARD:10423 xref: MESH:C564403 xref: MIM:PS607426 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9004866 ! Ataxia is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0050731 name: vitamin B12 deficiency alt_id: MIM:612542 def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO)" [http://en.wikipedia.org/wiki/B12_deficiency "DO"] synonym: "acquired cobalamin-deficient neuropathy" NARROW [] synonym: "cobalamin deficiency" EXACT [] synonym: "hypocobalaminemia" EXACT [] synonym: "vitamin B12 deficiencies" EXACT [] synonym: "vitamin B12 deficiency anemia" NARROW [] xref: EFO:0000734 xref: MESH:D014806 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:0050732 name: methylmalonic aciduria and homocystinuria type cblE def: "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)" [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb "DO", https://www.omim.org/entry/236270 "DO"] xref: EFO:0005568 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050733 name: methylmalonic aciduria and homocystinuria type cblG alt_id: MIM:250940 def: "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)" [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf "DO", https://www.omim.org/entry/250940 "DO"] synonym: "HMAG" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE" EXACT [] synonym: "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type" EXACT [] synonym: "METHIONINE SYNTHASE DEFICIENCY" EXACT [] synonym: "methylcobalamin deficiency type CblG" EXACT [] xref: EFO:0005597 xref: MESH:C565394 xref: ORDO:2170 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050734 name: congenital intrinsic factor deficiency alt_id: MIM:261000 def: "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)" [http://omim.org/entry/261000?search=261000&highlight=261000 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14695536 "DO"] synonym: "congenital pernicious anemia, due to defect of intrinsic factor" EXACT [] synonym: "hereditary intrinsic factor deficiency" EXACT [] synonym: "IFD" EXACT [] synonym: "intrinsic factor deficiency" EXACT [] xref: MESH:C563242 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:0080015 ! physical disorder is_a: DOID:13381 ! pernicious anemia [Term] id: DOID:0050735 name: X-linked monogenic disease def: "A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO)" [http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO"] synonym: "Genetic Diseases, X Chromosome Linked" EXACT [] synonym: "X-linked disease" EXACT [] synonym: "X-linked genetic disease" EXACT [] synonym: "X-linked inheritance" EXACT [] xref: MESH:D040181 is_a: DOID:0050177 ! monogenic disease [Term] id: DOID:0050736 name: autosomal dominant disease def: "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)" [http://ghr.nlm.nih.gov/glossary=autosomaldominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO", http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm "DO"] xref: RDO:9002039 is_a: DOID:0050739 ! autosomal genetic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050737 name: autosomal recessive disease def: "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)" [http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO", http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm "DO"] xref: EFO:1000017 is_a: DOID:0050739 ! autosomal genetic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050738 name: Y-linked monogenic disease def: "A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO)" [http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked "DO"] synonym: "Y chromosome linked genetic diseases" EXACT [] synonym: "Y-linked disease" EXACT [] synonym: "Y-linked genetic disease" EXACT [] xref: MESH:D050174 is_a: DOID:0050177 ! monogenic disease [Term] id: DOID:0050739 name: autosomal genetic disease def: "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)" [http://ghr.nlm.nih.gov/glossary=autosomaldominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO"] is_a: DOID:0050177 ! monogenic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050740 name: Qazi Markouizos syndrome alt_id: MIM:600096 def: "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO)" [http://omim.org/entry/600096 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010 "DO"] synonym: "dysharmonic skeletal maturation muscular fibre disproportion" EXACT [] synonym: "Puerto Rican infant hypotonia syndrome" EXACT [] synonym: "Puertorican infant hypotonia syndrome" EXACT [] xref: GARD:371 xref: MESH:C536259 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050741 name: alcohol dependence def: "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)" [https://en.wikipedia.org/wiki/Alcohol_dependence "DO"] synonym: "alcohol addiction" EXACT [] synonym: "alcoholism" EXACT [] synonym: "GABRA2-RELATED CONDITION" BROAD [] xref: EFO:0003829 xref: MIM:103780 xref: MONDO:0007079 is_a: DOID:9004354 ! Alcohol-Related Disorders is_a: DOID:9973 ! substance dependence created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050742 name: nicotine dependence def: "A substance dependence that is characterized by a physical dependence on nicotine. (DO)" [https://en.wikipedia.org/wiki/Nicotine_dependence "DO"] synonym: "CHRNA4-RELATED CONDITION" BROAD [] synonym: "CIGARETTE HABITUATION, SUSCEPTIBILITY TO" RELATED [] synonym: "NICOTINE ADDICTION, PROTECTION AGAINST" RELATED [] synonym: "NICOTINE ADDICTION, SUSCEPTIBILITY TO" RELATED [] synonym: "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO" RELATED [] synonym: "SMOKING HABIT, SUSCEPTIBILITY TO" RELATED [] synonym: "tobacco addiction, susceptibility to" RELATED [] synonym: "tobacco use disorder" EXACT [] xref: EFO:0003768 xref: ICD10CM:F17 xref: MIM:188890 xref: NCI:C54203 is_a: DOID:9001310 ! Tobacco Use Disorder is_a: DOID:9973 ! substance dependence created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050743 name: mature T-cell and NK-cell lymphoma def: "A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=393800 "DO", http://www.cancer.gov/dictionary?CdrID=44062 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21919697 "DO"] synonym: "mature T-cell and natural killer cell lymphoma" EXACT [] synonym: "NK-T cell lymphoma" EXACT [] is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050744 name: anaplastic large cell lymphoma def: "A non-Hodgkin lymphoma involving aberrant T-cells. (DO)" [http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology "DO"] synonym: "anaplastic large-cell lymphomas" EXACT [] synonym: "CD30+ Anaplastic Large Cell Lymphoma" EXACT [] synonym: "CD30 Positive Anaplastic Large Cell Lymphoma" EXACT [] synonym: "Central Nervous System Anaplastic Large Cell Lymphoma" NARROW [] synonym: "Ki 1 Lymphoma" EXACT [] synonym: "Ki-1 Lymphomas" EXACT [] synonym: "Lymphoma, Large-Cell, Ki-1" EXACT [] synonym: "systemic anaplastic large cell lymphoma" EXACT [] xref: EFO:0003032 xref: EFO:1000156 xref: ICDO:9714/3 xref: MESH:D017728 xref: NCI:C3720 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma [Term] id: DOID:0050745 name: diffuse large B-cell lymphoma def: "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO)" [http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma "DO", https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28487884 "DO"] synonym: "Breast Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "Colorectal Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "diffuse histiocytic lymphoma" EXACT [] synonym: "diffuse histiocytic lymphomas" EXACT [] synonym: "diffuse large cell lymphoma" EXACT [] synonym: "diffuse large-cell lymphomas" EXACT [] synonym: "diffuse large lymphoid lymphoma" EXACT [] synonym: "DLBCL" EXACT [] synonym: "histiocytic lymphoma" EXACT [] synonym: "histiocytic lymphomas" EXACT [] synonym: "PCLBCL" NARROW [] synonym: "primary cutaneous large B-cell lymphoma" NARROW [] synonym: "Primary Pulmonary Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "Small Intestinal Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "Thyroid Gland Diffuse Large B-Cell Lymphoma" NARROW [] xref: EFO:0000403 xref: EFO:1000144 xref: EFO:1000191 xref: EFO:1000495 xref: EFO:1000534 xref: EFO:1000547 xref: EFO:1000587 xref: GARD:3178 xref: ICD11:2A81.Z xref: ICDO:9680/3 xref: MESH:D016403 xref: NCI:C45605 xref: NCI:C80280 xref: NCI:C8851 is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0050746 name: mantle cell lymphoma def: "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)" [http://en.wikipedia.org/wiki/Mantle_cell_lymphoma "DO"] synonym: "Centrocytic Small-Cell Lymphoma" EXACT [] synonym: "centrocytic small-cell lymphomas" EXACT [] synonym: "Diffuse Lymphocytic Lymphoma, Poorly Differentiated" EXACT [] synonym: "Gastric Mantle Cell Lymphoma" NARROW [] synonym: "Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated" EXACT [] synonym: "Lymphoma, Lymphocytic, Intermediate" EXACT [] synonym: "Mantle-Cell Lymphomas" EXACT [] synonym: "Mantle Cell Lymphoma, Somatic" EXACT [] synonym: "Mantle Zone Lymphoma" EXACT [] synonym: "mantle-zone lymphomas" EXACT [] synonym: "Splenic Mantle Cell Lymphoma" NARROW [] xref: EFO:1000272 xref: EFO:1000549 xref: EFO:1001469 xref: GARD:6969 xref: ICDO:9673/3 xref: MESH:D020522 xref: NCI:C187985 xref: NCI:C4337 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0050748 name: marginal zone lymphoma def: "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)" [http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=562554 "DO"] synonym: "marginal zone B-cell lymphoma" EXACT [] xref: EFO:1000630 xref: MESH:D018442 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0050749 name: peripheral T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO)" [http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma "DO"] synonym: "peripheral T-cell lymphomas" EXACT [] synonym: "unspecified peripheral T-cell lymphoma" NARROW [] xref: EFO:0000211 xref: GARD:7368 xref: MESH:D016411 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma [Term] id: DOID:0050750 name: splenic marginal zone lymphoma def: "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO)" [http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma "DO"] synonym: "splenic lymphoma with villous lymphocytes" EXACT [] synonym: "splenic marginal zone B-cell lymphoma" EXACT [] xref: EFO:1000550 xref: NCI:C4663 is_a: DOID:0050748 ! marginal zone lymphoma is_a: DOID:4960 ! bone marrow cancer is_a: DOID:672 ! spleen cancer created_by: rgd creation_date: 2016-08-22T00:00:00Z [Term] id: DOID:0050751 name: T-cell large granular lymphocyte leukemia def: "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)" [http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia "DO"] synonym: "Aggressive Natural Killer Cell Leukemia" EXACT [] synonym: "Aggressive NK Cell Leukemia" EXACT [] synonym: "Large Granular Lymphocyte Leukemia" EXACT [] synonym: "Large granular lymphocytic leukaemia" EXACT [] synonym: "large granular lymphocytoses" EXACT [] synonym: "Large Granular Lymphocytosis" EXACT [] synonym: "Leukemia, Large Granular Lymphocytic" EXACT [] synonym: "LGL Leukemia" EXACT [] synonym: "LGL leukemias" EXACT [] synonym: "lymphoproliferative disease of granular lymphocytes" EXACT [] synonym: "Lymphoproliferative Disease of Large Granular Lymphocytes" EXACT [] synonym: "Natural Killer Cell Large Granular Lymphocytic Leukemia" EXACT [] synonym: "NK Cell Large Granular Lymphocytic Leukemia" EXACT [] synonym: "NK LGL leukemia" EXACT [] synonym: "NK-LGL leukemias" EXACT [] synonym: "T-cell large granular lymphocyte leukaemia" EXACT [] synonym: "T-cell large granular lymphocytic leukemia" EXACT [] synonym: "T-LGL leukemia" EXACT [] synonym: "T-LGL leukemias" EXACT [] xref: ICDO:9831/3 xref: MESH:D054066 xref: NCI:C4664 xref: NCI:C64066 is_a: DOID:1040 ! chronic lymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia [Term] id: DOID:0050752 name: amyotrophic lateral sclerosis type 8 alt_id: MIM:608627 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608627 "DO"] synonym: "ALS8" EXACT [] synonym: "amyotrophic lateral sclerosis 8" EXACT [] xref: GARD:10499 xref: MESH:C563895 xref: NCI:C168751 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0050753 name: cerebellar ataxia alt_id: OMIA:000078 alt_id: OMIA:001692 alt_id: OMIA:001913 alt_id: OMIA:001954 alt_id: OMIA:002110 def: "A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)" [http://en.wikipedia.org/wiki/Cerebellar_ataxia "DO"] synonym: "adiadochokineses" EXACT [] synonym: "Adiadochokinesis" EXACT [] synonym: "Ataxia, cerebellar, juvenile to adolescent, RAB24-related" NARROW [] synonym: "Ataxia, cerebellar, neonatal" NARROW [] synonym: "Ataxia, cerebellar, neonatal, GRM1-related" NARROW [] synonym: "Ataxia, cerebellar, progressive early-onset" NARROW [] synonym: "Ataxia, cerebellar, progressive early-onset, SEL1L-related" NARROW [] synonym: "cerebellar ataxia, juvenile to adolescent" NARROW [] synonym: "cerebellar ataxias" EXACT [] synonym: "Cerebellar Dysmetria" EXACT [] synonym: "Cerebellar Dysmetrias" EXACT [] synonym: "Cerebellar Hemiataxia" EXACT [] synonym: "Cerebellar Hemiataxias" EXACT [] synonym: "Cerebellar Incoordination" EXACT [] synonym: "Cerebellar Incoordinations" EXACT [] synonym: "Dysmetria" EXACT [] synonym: "Dysmetrias" EXACT [] synonym: "hypermetria" EXACT [] synonym: "hypermetrias" EXACT [] synonym: "neurodegenerative vacuolar storage disease" NARROW [] xref: MESH:D002524 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0050754 name: ataxia with oculomotor apraxia type 1 alt_id: MIM:208920 def: "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)" [https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 "DO"] synonym: "adult-onset ataxia with oculomotor apraxia" EXACT [] synonym: "AOA" EXACT [] synonym: "AOA1" EXACT [] synonym: "ataxia-oculomotor apraxia 1" EXACT [] synonym: "ataxia-oculomotor apraxia syndrome" EXACT [] synonym: "Ataxia-telangiectasia-like syndrome" EXACT [] synonym: "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA" NARROW [] synonym: "EAOH" EXACT [] synonym: "Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia" EXACT [] synonym: "Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia" EXACT [] synonym: "EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA" NARROW [] xref: GARD:9283 xref: MESH:C538013 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0060135 ! apraxia is_a: DOID:9007271 ! Hypoalbuminemia [Term] id: DOID:0050755 name: spinocerebellar ataxia with axonal neuropathy 2 alt_id: MIM:606002 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/19696032/ "DO", https://pubmed.ncbi.nlm.nih.gov/23786967/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1154/ "DO"] synonym: "AOA2" EXACT [] synonym: "ataxia-ocular apraxia 2" EXACT [] synonym: "ataxia-oculomotor apraxia 2" EXACT [] synonym: "ataxia with oculomotor apraxia" EXACT [] synonym: "ataxia with oculomotor apraxia type 2" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 1" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2" EXACT [] synonym: "recessive spinocerebellar ataxia, Non-Friedreich type 1" EXACT [] synonym: "SCAN2" EXACT [] synonym: "SCAR1" EXACT [] synonym: "SETX-RELATED CONDITION" BROAD [] synonym: "SETX-RELATED DISORDER" BROAD [] synonym: "SETX-RELATED DISORDERS" BROAD [] synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [] xref: GARD:12860 xref: MESH:C537308 xref: NCI:C165500 xref: ORDO:64753 is_a: DOID:0060135 ! apraxia is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050757 name: deafness-dystonia-optic neuronopathy syndrome alt_id: DOID:0050867 alt_id: MIM:304700 def: "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)" [http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome "DO", http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome "DO", http://omim.org/entry/304700 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1216/ "DO"] synonym: "DDP" EXACT [] synonym: "DDS" EXACT [] synonym: "deafness (DFN-1) dystonia, mental deficiency and blindness" EXACT [] synonym: "deafness-dystonia-optic atrophy syndrome" EXACT [] synonym: "deafness dystonia syndrome" EXACT [] synonym: "Jensen syndrome" EXACT [] synonym: "Mohr-Tranebjaerg syndrome" EXACT [] synonym: "Mohr-Tranebjærg Syndrome" EXACT [] synonym: "MTS" EXACT [] synonym: "nerve deafness, optic nerve atrophy, and dementia" EXACT [] synonym: "opticoacoustic nerve atrophy with dementia" EXACT [] synonym: "opticoacustic nerve atrophy with dementia" EXACT [] synonym: "progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency" EXACT [] synonym: "syndrome of opticoacoustic nerve atrophy with dementia" EXACT [] xref: MESH:C535808 xref: MESH:C537568 xref: ORDO:3213 is_a: DOID:0060140 ! cortical deafness is_a: DOID:1059 ! intellectual disability is_a: DOID:1307 ! dementia is_a: DOID:225 ! syndrome is_a: DOID:543 ! dystonia is_a: DOID:5723 ! optic atrophy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005165 ! Deaf-Blind Disorders created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0050758 name: metabolic acidosis def: "An acquired metabolic disease that characterized by excessive production of acid. (DO)" [http://en.wikipedia.org/wiki/Metabolic_acidosis "DO", https://medlineplus.gov/ency/article/000335.htm "DO"] synonym: "metabolic acidoses" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:9002802 ! Acidoses [Term] id: DOID:0050759 name: myotonic dystrophy type 2 def: "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)" [http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://www.ncbi.nlm.nih.gov/books/NBK1466/ "DO"] synonym: "proximal myotonic dystrophy" EXACT [] synonym: "proximal myotonic myopathy" EXACT [] synonym: "Ricker disease" EXACT [] synonym: "Ricker syndrome" EXACT [] xref: GARD:9728 xref: ICD10CM:G71.1 xref: MIM:602668 xref: NCI:C122789 xref: NCI:C122790 xref: ORDO:606 is_a: DOID:450 ! myotonic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050760 name: X-linked myopathy with excessive autophagy alt_id: MIM:310440 alt_id: RDO:0013167 def: "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)" [https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/ "DO"] synonym: "MEAX" EXACT [] synonym: "XMEA" EXACT [] xref: GARD:3892 xref: MESH:C564093 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:423 ! myopathy [Term] id: DOID:0050762 name: adenylosuccinase lyase deficiency alt_id: MIM:103050 def: "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)" [https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency "DO"] synonym: "Adenylosuccinase deficiency" EXACT [] synonym: "adenylosuccinate lyase deficiency" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 1" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 2" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 3" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 4" EXACT [] synonym: "ADSLD" EXACT [] synonym: "ADSL deficiency" EXACT [] synonym: "ADSL-RELATED CONDITION" EXACT [] synonym: "succinylpurinemic autism" EXACT [] xref: GARD:550 xref: MESH:C538235 xref: RDO:0004188 is_a: DOID:12849 ! autistic disorder is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050763 name: ARC syndrome def: "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)" [http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/16896922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22753090 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24415890 "DO"] synonym: "ARCS" EXACT [] synonym: "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis" EXACT [] synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [] synonym: "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [] synonym: "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME" EXACT [] synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [] synonym: "arthrogryposis renal dysfunction cholestasis syndrome" EXACT [] synonym: "arthrogryposis with renal dysfunction and cholestasis syndrome" EXACT [] xref: MESH:C535382 xref: MIM:PS208085 xref: ORDO:2697 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1074 ! kidney failure is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome [Term] id: DOID:0050764 name: Armfield syndrome alt_id: MIM:300261 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/10398235 "DO"] synonym: "Armfield X-Linked Mental Retardation Syndrome" EXACT [] synonym: "FAM50A-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, X-Linked, Armfield Type" EXACT [] synonym: "MRXSA" EXACT [] synonym: "X-linked intellectual disability, Armfield type" EXACT [] synonym: "X-linked mental retardation syndrome, Armfield type" EXACT [] synonym: "X-linked syndromic intellectual developmental disorder, Armfield type" EXACT [] synonym: "X-linked syndromic mental retardation, Armfield type" EXACT [] xref: MESH:C564551 xref: ORDO:85276 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome [Term] id: DOID:0050765 name: neuroacanthocytosis def: "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)" [https://en.wikipedia.org/wiki/Neuroacanthocytosis "DO", https://rarediseases.org/rare-diseases/neuroacanthocytosis/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1387/ "DO"] synonym: "acanthocytosis with neurologic disorder" EXACT [] xref: GARD:10902 xref: MESH:D054546 xref: ORDO:263440 is_a: DOID:12859 ! choreatic disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0050766 name: choreaacanthocytosis def: "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)" [https://en.wikipedia.org/wiki/Chorea_acanthocytosis "DO", https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/9382101 "DO"] synonym: "CHAC" EXACT [] synonym: "chorea acanthocytosis" EXACT [] synonym: "chorea acanthocytosis syndrome" EXACT [] synonym: "choreo-acanthocytosis" EXACT [] synonym: "choreoacanthocytosis" EXACT [] synonym: "Levine-Critchley syndrome" EXACT [] synonym: "VPS13A-RELATED CONDITION" EXACT [] xref: GARD:3956 xref: MIM:200150 xref: NCI:C84926 xref: ORDO:2388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050765 ! neuroacanthocytosis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050767 name: midface dysplasia def: "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO)" [https://en.wikipedia.org/wiki/Frontonasal_dysplasia "DO"] is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050768 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 1 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO)" [http://omim.org/entry/604273 "DO"] synonym: "MC5DN1" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type" EXACT [] xref: MIM:604273 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0050769 name: N syndrome alt_id: MIM:310465 def: "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO)" [https://rarediseases.info.nih.gov/diseases/3902/n-syndrome "DO"] synonym: "NSX" EXACT [] xref: GARD:3902 xref: MESH:C536108 xref: ORDO:2608 is_a: DOID:1059 ! intellectual disability is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:0050770 name: polycystic liver disease def: "A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)" [https://rarediseases.org/rare-diseases/polycystic-liver-disease/ "DO"] synonym: "congenital cystic disease of liver" EXACT [] synonym: "congenital cystic liver disease" EXACT [] synonym: "congenital hepatic cyst" EXACT [] synonym: "cystic liver disease" BROAD [] synonym: "fibrocystic liver disease" EXACT [] xref: EFO:1001505 xref: GARD:9457 xref: MESH:C536330 xref: MIM:PS174050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:409 ! liver disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:0050771 name: pheochromocytoma alt_id: MIM:171300 def: "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)" [https://en.wikipedia.org/wiki/Pheochromocytoma "DO", https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma "DO", https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367 "DO", https://www.omim.org/entry/171300 "DO"] synonym: "Benign Adrenal Gland Pheochromocytoma" EXACT [] synonym: "phaeochromocytoma" EXACT [] synonym: "pheochromocytomas" EXACT [] synonym: "pheochromocytoma, susceptibility to" RELATED [] xref: EFO:1000106 xref: GARD:7385 xref: MESH:D010673 xref: MONDO:0008233 is_a: DOID:0060089 ! endocrine organ benign neoplasm [Term] id: DOID:0050772 name: spastic ataxia 1 alt_id: MIM:108600 def: "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)" [https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type "DO"] synonym: "spastic ataxia 1, autosomal dominant" EXACT [] synonym: "SPAX1" EXACT [] xref: MESH:C566993 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0050773 name: paraganglioma alt_id: DOID:9000364 def: "A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO)" [https://en.wikipedia.org/wiki/Paraganglioma "DO", https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma "DO"] synonym: "Bladder Paraganglioma" NARROW [] synonym: "CBT1" EXACT [] synonym: "chemodectoma" EXACT [] synonym: "Chemodectomas" EXACT [] synonym: "Extra-Adrenal Paraganglioma" EXACT [] synonym: "Extra-Adrenal Paragangliomas" EXACT [] synonym: "extra-adrenal sympathetic paraganglioma" EXACT [] synonym: "gangliocytic paraganglioma" EXACT [] synonym: "gangliocytic paragangliomas" EXACT [] synonym: "glomus body tumor" EXACT [] synonym: "hereditary paragangliomas and pheochromocytomas" EXACT [] synonym: "Non-Chromaffin Paraganglioma" EXACT [] synonym: "Nonchromaffin Paraganglioma" EXACT [] synonym: "Non-Chromaffin Paragangliomas" EXACT [] synonym: "Nonchromaffin Paragangliomas" EXACT [] synonym: "paraganglioma, familial malignant" NARROW [] synonym: "paragangliomas" EXACT [] synonym: "paragangliomata" EXACT [] synonym: "PGL" EXACT [] synonym: "pheochromocytoma-paraganglioma" EXACT [] synonym: "Vagus Nerve Paraganglioma" NARROW [] xref: EFO:0000489 xref: EFO:0020005 xref: EFO:1000128 xref: EFO:1000453 xref: EFO:1000621 xref: ICDO:8680/3 xref: MESH:D010235 xref: MESH:D010236 xref: MIM:PS168000 xref: NCI:C3308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050771 ! pheochromocytoma [Term] id: DOID:0050774 name: rapadilino syndrome alt_id: MIM:266280 def: "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)" [https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome "DO"] synonym: "radial and patellar aplasia" EXACT [] synonym: "radial and patellar hypoplasia" EXACT [] xref: GARD:4637 xref: MESH:C535288 xref: ORDO:3021 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:2732 ! Rothmund-Thomson syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050775 name: schneckenbecken dysplasia alt_id: RDO:0002274 def: "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)" [https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia "DO"] synonym: "Chondrodysplasia, lethal neonatal, with snail-like pelvis" EXACT [] synonym: "SHNKND" EXACT [] xref: GARD:169 xref: MESH:C536637 xref: MIM:269250 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050776 name: non-syndromic X-linked intellectual disability def: "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7011032 "DO"] synonym: "X-linked non-specific mental retardation" EXACT [] xref: MESH:C564490 xref: MIM:PS309530 xref: ORDO:777 is_a: DOID:0050889 ! non-syndromic intellectual disability is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050777 name: Joubert syndrome def: "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)" [http://en.wikipedia.org/wiki/Joubert_syndrome "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "DO"] synonym: "JBTS" EXACT [] synonym: "Joubert syndrome and related disorders" EXACT [] xref: GARD:6802 xref: MIM:PS213300 xref: NCI:C74996 xref: ORDO:475 is_a: DOID:0060340 ! ciliopathy is_a: DOID:2786 ! cerebellar disease created_by: rgd creation_date: 2016-11-09T00:00:00Z [Term] id: DOID:0050778 name: Meckel syndrome def: "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)" [http://en.wikipedia.org/wiki/Meckel_syndrome "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract "DO"] synonym: "Meckel Gruber syndrome" EXACT [] xref: GARD:3436 xref: ICD9CM:753.1 xref: MIM:PS249000 xref: NCI:C98978 xref: ORDO:564 is_a: DOID:0060340 ! ciliopathy created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050779 name: hydrolethalus syndrome def: "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)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15843405 "DO"] synonym: "Salonen-Herva-Norio syndrome" EXACT [] xref: EFO:1000033 xref: GARD:6683 xref: MESH:C536079 xref: MIM:PS236680 xref: MONDO:0006037 xref: ORDO:2189 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:1148 ! polydactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0050781 name: Ogden syndrome def: "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)" [https://en.wikipedia.org/wiki/Ogden_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21700266 "DO"] synonym: "N-alpha-acetyltransferase" EXACT [] synonym: "NATD" EXACT [] synonym: "N-terminal acetyltransferase deficiency" EXACT [] synonym: "OGDNS" EXACT [] synonym: "X-linked malformation and infantile lethality syndrome" EXACT [] xref: MIM:300855 xref: NCI:C188215 xref: ORDO:276432 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9003648 ! N Acetyltransferase Deficiency is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050782 name: Zollinger-Ellison syndrome def: "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)" [http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/28949124 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome "DO"] xref: EFO:0007549 xref: GARD:7918 xref: ICD10CM:E16.4 xref: MESH:D015043 xref: NCI:C3453 is_a: DOID:750 ! peptic ulcer disease is_a: DOID:76 ! stomach disease is_a: DOID:9006730 ! Paraneoplastic Endocrine Syndromes is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:0050783 name: secondary progressive multiple sclerosis def: "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)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO", http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms "DO"] synonym: "chronic progressive multiple sclerosis" EXACT [] synonym: "Secondary-progressive MS" EXACT [] synonym: "SPMS" EXACT [] xref: EFO:0003840 xref: EFO:0008522 is_a: DOID:2377 ! multiple sclerosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050784 name: primary progressive multiple sclerosis def: "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)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO", http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx "DO"] synonym: "chronic progressive multiple sclerosis" EXACT [] synonym: "PPMS" EXACT [] synonym: "primary-progressive MS" EXACT [] synonym: "progressive remittent multiple sclerosis" EXACT [] xref: EFO:0003840 xref: EFO:0008520 xref: MESH:D020528 is_a: DOID:2377 ! multiple sclerosis [Term] id: DOID:0050785 name: progressive relapsing multiple sclerosis def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35400704/ "DO"] synonym: "PRMS" EXACT [] synonym: "progressive-relapsing MS" EXACT [] xref: EFO:0003840 is_a: DOID:2377 ! multiple sclerosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050786 name: iridogoniodysgenesis syndrome def: "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)" [http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome "DO", http://rarediseases.info.nih.gov/gard/3026/disease/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19175065 "DO"] synonym: "IGDS" EXACT [] synonym: "iridogoniodysgenesis" EXACT [] xref: MONDO:0011119 xref: ORDO:98634 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050787 name: juvenile polyposis syndrome alt_id: MIM:174900 def: "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)" [http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome "DO", http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK1469/ "DO"] synonym: "BMPR1A-related juvenile polyposis" EXACT [] synonym: "familial polyposis of entire gastrointestinal tract" EXACT [] synonym: "GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI" EXACT [] synonym: "JIP" EXACT [] synonym: "JPS" EXACT [] synonym: "juvenile intestinal polyposis" EXACT [] synonym: "Juvenile Polyp" RELATED [] synonym: "JUVENILE POLYPOSIS" EXACT [] synonym: "JUVENILE POLYPOSIS COLI" NARROW [] synonym: "Juvenile Polyposis, Infantile" EXACT [] synonym: "Juvenile Polyposis Of Infancy" EXACT [] synonym: "juvenile polyposis of stomach" EXACT [] synonym: "PJI" EXACT [] synonym: "SMAD4-related juvenile polyposis" EXACT [] xref: EFO:1000310 xref: GARD:3065 xref: MESH:C537702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6225 ! Cronkhite-Canada syndrome is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0050788 name: proximal symphalangism def: "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)" [http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1 "DO"] synonym: "Cushing's symphalangism" EXACT [] synonym: "Cushing symphalangism" EXACT [] synonym: "hereditary absence of proximal interphalangeal joints" EXACT [] synonym: "hereditary absence of the proximal interphalangeal joints" EXACT [] synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" EXACT [] synonym: "Strasburger-Hawkins-Eldridge syndrome" EXACT [] synonym: "SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER" NARROW [] synonym: "Vessel's syndrome" EXACT [] xref: GARD:8182 xref: MESH:C536223 xref: MIM:PS185800 xref: ORDO:3250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy [Term] id: DOID:0050789 name: tarsal-carpal coalition syndrome def: "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)" [http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22326510 "DO"] synonym: "NOG-Related-Symphalangism Spectrum Disorder" EXACT [] synonym: "synostosis of talus and calcaneus with short stature" RELATED [] synonym: "TCC" EXACT [] xref: GARD:9225 xref: MESH:C536943 xref: MIM:186570 xref: MONDO:0008521 xref: ORDO:1412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:11971 ! synostosis is_a: DOID:227 ! ankylosis is_a: DOID:2742 ! auditory system disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9834 ! hyperopia [Term] id: DOID:0050790 name: fibular hypoplasia and complex brachydactyly alt_id: MIM:228900 def: "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO)" [https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/16222676 "DO"] synonym: "acromesomelic dysplasia 2B" EXACT [] synonym: "AMD2B" EXACT [] synonym: "Du Pan syndrome" EXACT [] xref: MESH:C537931 xref: ORDO:2639 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0050791 name: persistent Mullerian duct syndrome alt_id: MIM:261550 alt_id: OMIA:000791 def: "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)" [http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome "DO", http://omim.org/entry/261550?search=261550&highlight=261550 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20352001 "DO"] synonym: "AMHR2-RELATED CONDITION" EXACT [] synonym: "AMH-RELATED CONDITION" NARROW [] synonym: "FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE" EXACT [] synonym: "hernia uteri inguinale" EXACT [] synonym: "Persistent M?llerian Duct Syndrome" EXACT [] synonym: "persistent Muellerian duct syndrome" EXACT [] synonym: "Persistent Mullerian duct syndrome, type I" NARROW [] synonym: "Persistent Mullerian duct syndrome, type II" NARROW [] synonym: "Persistent mullerian duct syndrome, types 1 and 2" EXACT [] synonym: "persistent Mullerian duct syndrome, types I and II" EXACT [] synonym: "persistent oviduct syndrome" EXACT [] synonym: "PMDS" EXACT [] synonym: "pseudohermaphroditism, male internal" EXACT [] xref: GARD:8435 xref: MESH:C536665 xref: MONDO:0009857 xref: NCI:C120188 xref: ORDO:2856 is_a: DOID:15 ! reproductive system disease is_a: DOID:225 ! syndrome is_a: DOID:3765 ! pseudohermaphroditism is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:0050792 name: multiple cutaneous and mucosal venous malformations alt_id: MIM:600195 def: "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)" [http://omim.org/entry/600195?search=600195&highlight=600195 "DO", https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301733 "DO"] synonym: "cutaneomucosal venous malformation" EXACT [] synonym: "CUTANEOUS VENOUS MALFORMATION" NARROW [] synonym: "mucocutaneous venous malformations" EXACT [] synonym: "SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT" NARROW [] synonym: "TEK-RELATED CONDITION" BROAD [] synonym: "VMCM" EXACT [] synonym: "VMCM1" EXACT [] xref: MESH:C563977 xref: ORDO:2451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:37 ! skin disease is_a: DOID:866 ! vein disease [Term] id: DOID:0050793 name: short QT syndrome def: "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)" [http://en.wikipedia.org/wiki/Short_QT_syndrome "DO", http://ghr.nlm.nih.gov/condition/short-qt-syndrome "DO", http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 "DO"] synonym: "SHORT QT SYNDROME 4" NARROW [] synonym: "SHORT QT SYNDROME 5" NARROW [] xref: EFO:0004690 xref: MESH:C580439 xref: MIM:PS609620 xref: MONDO:0000453 xref: NCI:C71060 is_a: DOID:10273 ! heart conduction disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0050794 name: multiple synostoses syndrome def: "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)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ "DO"] xref: MIM:PS186500 xref: ORDO:3237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050795 name: cone dystrophy def: "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)" [http://en.wikipedia.org/wiki/Cone_dystrophy "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO"] synonym: "retinal cone dystrophy" EXACT [] xref: GARD:11897 xref: MESH:D000077765 is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050796 name: achalasia microcephaly syndrome alt_id: MIM:200450 def: "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)" [http://omim.org/entry/200450 "DO", http://rarediseases.info.nih.gov/gard/456/disease/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN "DO"] synonym: "achalasia microcephaly" EXACT [] xref: GARD:456 xref: MESH:C536010 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9164 ! achalasia [Term] id: DOID:0050797 name: peroxisomal acyl-CoA oxidase deficiency alt_id: MIM:264470 def: "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)" [http://www.omim.org/entry/264470 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11815777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17458872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18536048 "DO"] synonym: "ACOX1-RELATED CONDITION" BROAD [] synonym: "ACOX1-RELATED DISORDER" BROAD [] synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT [] synonym: "pseudoneonatal adrenoleukodystrophy" EXACT [] synonym: "straight-chain ACYL-COA oxidase deficiency" EXACT [] xref: GARD:4543 xref: MESH:C536662 xref: NCI:C170437 xref: ORDO:2971 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10588 ! adrenoleukodystrophy is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050798 name: cerebral creatine deficiency syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO", https://www.omim.org/entry/300352 "DO"] xref: MIM:PS300352 is_a: DOID:225 ! syndrome is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050799 name: guanidinoacetate methyltransferase deficiency alt_id: MIM:612736 def: "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)" [https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency "DO"] synonym: "CCDS2" EXACT [] synonym: "cerebral creatine deficiency syndrome 2" EXACT [] synonym: "creatine deficiency syndrome due to GAMT deficiency" EXACT [] synonym: "GAMT deficiency" EXACT [] synonym: "GAMT-RELATED CONDITION" EXACT [] xref: GARD:2578 xref: MESH:C537622 xref: NCI:C173468 is_a: DOID:0050798 ! cerebral creatine deficiency syndrome is_a: DOID:480 ! movement disease is_a: DOID:9005466 ! Language Development Disorders [Term] id: DOID:0050800 name: cerebral creatine deficiency syndrome 1 alt_id: MIM:300352 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO", https://www.omim.org/entry/300352 "DO"] synonym: "CCDS1" EXACT [] synonym: "creatine deficiency syndrome 1" EXACT [] synonym: "Creatine Deficiency, X-Linked" EXACT [] synonym: "Creatine Transporter Defect" EXACT [] synonym: "creatine transporter deficiency" EXACT [] synonym: "SLC6A8 deficiency" EXACT [] synonym: "SLC6A8-related creatine transporter deficiency" EXACT [] synonym: "X-linked creatine deficiency syndrome" EXACT [] synonym: "X-linked creatine transporter deficiency" EXACT [] synonym: "X-linked mental retardation with creatine transport deficiency" EXACT [] synonym: "X-linked mental retardation with seizures, short stature, and midface hypoplasia" EXACT [] xref: MESH:C535598 xref: NCI:C125665 xref: ORDO:52503 is_a: DOID:0050798 ! cerebral creatine deficiency syndrome is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050801 name: androgenic alopecia def: "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO)" [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia "DO"] synonym: "alopecia androgenetica, male pattern baldness" EXACT [] synonym: "androgenetic alopecia" EXACT [] xref: EFO:0004191 xref: GARD:9269 is_a: DOID:987 ! alopecia [Term] id: DOID:0050802 name: Ehlers-Danlos syndrome spondylodysplastic type 2 def: "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)" [http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm "DO"] synonym: "EDSP2" EXACT [] synonym: "EDSSPD2" EXACT [] synonym: "Ehlers-Danlos syndrome, progeroid form" BROAD [] synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [] synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [] synonym: "progeroid variant of Ehlers-Danlos syndrome" BROAD [] xref: MIM:615349 xref: ORDO:75496 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0050803 name: glioblastoma classical subtype def: "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050804 name: glioblastoma proneural subtype def: "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050805 name: glioblastoma mesenchymal subtype def: "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050806 name: glioblastoma neural subtype def: "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)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050807 name: Kahrizi syndrome alt_id: MIM:612713 def: "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)" [http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 "DO"] synonym: "intellectual disability-cataract-coloboma-kyphosis syndrome" EXACT [] synonym: "intellectual disability, Kahrizi type" EXACT [] synonym: "KHRZ" EXACT [] synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" EXACT [] xref: MESH:C567196 xref: ORDO:168972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:4667 ! kyphosis is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies [Term] id: DOID:0050809 name: mucopolysaccharidosis IX alt_id: MIM:601492 def: "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII "DO"] synonym: "DEFICIENCY OF HYALURONOGLUCOSAMINIDASE" EXACT [] synonym: "hyaluronidase deficiency" EXACT [] synonym: "MPS9" EXACT [] synonym: "MPS IX" EXACT [] synonym: "mucopolysaccharidosis type IX" EXACT [] xref: MESH:C563209 xref: NCI:C129073 xref: ORDO:67041 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:0050810 name: biotin deficiency def: "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)" [http://en.wikipedia.org/wiki/Biotin_deficiency "DO", http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK547751/ "DO"] synonym: "B7 deficiency" EXACT [] xref: MESH:C531633 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:856 ! biotinidase deficiency [Term] id: DOID:0050811 name: congenital adrenal hyperplasia def: "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)" [http://omim.org/entry/201710 "DO", http://www.genome.jp/dbget-bin/www_bget?ds\:H00216 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0 "DO"] synonym: "adrenal hypoplasia congenita" EXACT [] synonym: "congenital adrenal hyperplasias" EXACT [] synonym: "congenital lipoid adrenal hyperplasia" EXACT [] synonym: "lipoid CAH" EXACT [] xref: GARD:1465 xref: GARD:1467 xref: ICD10CM:E25 xref: ICD9CM:255.2 xref: MESH:D000312 xref: ORDO:418 is_a: DOID:0080015 ! physical disorder is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9002128 ! Adrenogenital Syndrome is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0050812 name: spondyloepimetaphyseal dysplasia, Pakistani type alt_id: MESH:C567552 alt_id: MIM:612847 def: "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)" [http://omim.org/entry/612847 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 "DO"] synonym: "BCYM4" EXACT [] synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" EXACT [] synonym: "SEMD, Pakistani type" EXACT [] synonym: "spondylodysplasia and premature pubarche" EXACT [] xref: MESH:C567551 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:0050813 name: spondyloepiphyseal dysplasia with congenital joint dislocations alt_id: MIM:143095 def: "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)" [http://www.uniprot.org/diseases/DI-01753 "DO"] synonym: "CDMD" EXACT [] synonym: "chondrodysplasia with multiple dislocations" EXACT [] synonym: "CHST3-related skeletal dysplasia" EXACT [] synonym: "HSD" EXACT [] synonym: "humero-spinal dysostosis" EXACT [] synonym: "humerospinal dysostosis" EXACT [] synonym: "humero-spinal dysostosis with congenital heart disease" EXACT [] synonym: "Kozlowski Celermajer Tink syndrome" EXACT [] synonym: "Omani Type" EXACT [] synonym: "Omani type of spondyloepiphyseal dysplasia" EXACT [] synonym: "SEDCJD" EXACT [] synonym: "SED, Omani type" EXACT [] synonym: "SED with luxations, CHST3 type" EXACT [] synonym: "spondyloepiphyseal dysplasia" EXACT [] synonym: "spondyloepiphyseal dysplasia, CHST3-related" EXACT [] synonym: "spondyloepiphyseal dysplasia, Omani type" EXACT [] xref: MESH:C535789 is_a: DOID:0080015 ! physical disorder is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0050814 name: temtamy preaxial brachydactyly syndrome alt_id: MIM:605282 def: "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)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 "DO", http://www.sciencedirect.com/science/article/pii/S1769721213002449 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21129728 "DO"] synonym: "Preaxial brachydactyly syndrome, Temtamy type" EXACT [] synonym: "TPBS" EXACT [] xref: GARD:9679 xref: MESH:C536958 xref: ORDO:363417 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9008681 ! Deafness is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0050816 name: urofacial syndrome def: "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)" [http://en.wikipedia.org/wiki/Urofacial_syndrome "DO", http://omim.org/entry/236730 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704 "DO"] synonym: "hydronephrosis-inverted smile" EXACT [] synonym: "hydronephrosis with peculiar facial expression" EXACT [] synonym: "Inverted smile and occult neuropathic bladder" EXACT [] synonym: "inverted smile-neurogenic bladder" EXACT [] synonym: "Ochoa syndrome" EXACT [] synonym: "partial facial palsy with urinary abnormalities" EXACT [] synonym: "UFS" EXACT [] synonym: "urofacial Ochoa's syndrome" EXACT [] xref: GARD:2781 xref: MESH:C536480 xref: MIM:PS236730 xref: ORDO:2704 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:18 ! urinary system disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:0050817 name: Stargardt disease def: "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO)" [http://en.wikipedia.org/wiki/Stargardt_disease "DO"] synonym: "juvenile macular degeneration" EXACT [] synonym: "Stargardt's disease" EXACT [] synonym: "Stargardt macular degeneration" EXACT [] synonym: "STGD" EXACT [] xref: GARD:181 xref: MESH:D000080362 xref: NCI:C85078 xref: ORDO:827 is_a: DOID:10871 ! age related macular degeneration created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050818 name: transcobalamin II deficiency def: "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)" [http://omim.org/entry/275350 "DO", https://www.orpha.net/data/patho/GB/uk-TCII.pdf "DO"] synonym: "TC II DEFICIENCY" EXACT [] synonym: "TCN2 DEFICIENCY" EXACT [] xref: MIM:275350 xref: NCI:C142806 xref: RDO:0008510 is_a: DOID:0050731 ! vitamin B12 deficiency [Term] id: DOID:0050820 name: atrioventricular block def: "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)" [http://en.wikipedia.org/wiki/Atrioventricular_block "DO"] synonym: "Atrioventricular Blocks" EXACT [] synonym: "Atrioventricular Conduction Block" EXACT [] synonym: "Atrioventricular Conduction Blocks" EXACT [] synonym: "AV block" EXACT [] synonym: "AV blocks" EXACT [] synonym: "AV Block Third Degree Adverse Event" RELATED [] xref: EFO:0005305 xref: ICD10CM:I44.3 xref: ICD9CM:426.10 xref: MESH:D054537 xref: NCI:C26703 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9003163 ! Heart Block [Term] id: DOID:0050821 name: first-degree atrioventricular block def: "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)" [https://en.wikipedia.org/wiki/First-degree_atrioventricular_block "DO"] xref: RDO:9000763 is_a: DOID:0050820 ! atrioventricular block created_by: rgd creation_date: 2016-03-10T00:00:00Z [Term] id: DOID:0050822 name: second-degree atrioventricular block def: "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)" [https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block "DO"] synonym: "idiopathic second-degree atrioventricular block" EXACT [] synonym: "second-degree heart block" EXACT [] xref: RDO:9003341 is_a: DOID:0050820 ! atrioventricular block created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050823 name: third-degree atrioventricular block def: "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)" [https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block "DO"] synonym: "complete AV block" EXACT [] xref: RDO:9003343 is_a: DOID:0050820 ! atrioventricular block created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050824 name: sinoatrial node disease def: "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)" [http://en.wikipedia.org/wiki/Sinoatrial_node "DO"] synonym: "SA node" EXACT [] synonym: "sinuatrial node" EXACT [] xref: RDO:9002665 is_a: DOID:10273 ! heart conduction disease is_a: DOID:66 ! muscle tissue disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050825 name: endocardium disease def: "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO)" [http://en.wikipedia.org/wiki/Endocardium "DO"] is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050826 name: tricuspid valve disease def: "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)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/ "DO"] synonym: "disease of tricuspid valve" EXACT [] synonym: "RH. tricuspid valve disease" EXACT [] synonym: "rheumatic disease of tricuspid valve" EXACT [] synonym: "rheumatic tricuspid valve disease" EXACT [] synonym: "tricuspid disease" EXACT [] xref: EFO:0009568 xref: ICD10CM:I07 xref: ICD9CM:397.0 is_a: DOID:4079 ! heart valve disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050827 name: rheumatic heart disease def: "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)" [http://en.wikipedia.org/wiki/Rheumatic_heart_disease "DO"] synonym: "Bouillaud's Disease" EXACT [] synonym: "Bouillaud disease" EXACT [] synonym: "Bouillauds Disease" EXACT [] synonym: "rheumatic carditis" EXACT [] synonym: "rheumatic heart diseases" EXACT [] xref: EFO:1001161 xref: MESH:D012214 is_a: DOID:1586 ! rheumatic fever is_a: DOID:4079 ! heart valve disease [Term] id: DOID:0050828 name: artery disease def: "A vascular disease that is located_in an artery. (DO)" [http://en.wikipedia.org/wiki/Artery#Pathology "DO"] xref: MIM:108000 is_a: DOID:178 ! vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050829 name: pericardium disease def: "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO)" [http://en.wikipedia.org/wiki/Pericardium "DO"] xref: RDO:9002745 is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050830 name: peripheral artery disease def: "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm "DO", https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ "DO"] synonym: "peripheral arterial disease" EXACT [] synonym: "peripheral arterial diseases" EXACT [] synonym: "peripheral artery diseases" EXACT [] xref: EFO:0004265 xref: MESH:D058729 is_a: DOID:0050828 ! artery disease is_a: DOID:1936 ! atherosclerosis is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:0050831 name: familial encephalopathy with neuroserpin inclusion bodies alt_id: MIM:604218 def: "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)" [http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies "DO", http://www.jbc.org/content/277/19/17367 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport "DO"] synonym: "familial dementia with neuroserpin inclusion bodies" EXACT [] synonym: "familial encephalopathy with Collins bodies" EXACT [] synonym: "FENIB" EXACT [] xref: GARD:10037 xref: MESH:C536841 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0050832 name: pyrimidine metabolic disorder def: "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)" [http://en.wikipedia.org/wiki/Pyrimidine_metabolism "DO"] is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050833 name: orotic aciduria alt_id: MIM:258900 def: "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)" [http://en.wikipedia.org/wiki/Orotic_aciduria "DO", http://www.omim.org/entry/258900 "DO"] synonym: "hereditary orotic aciduria" EXACT [] synonym: "hereditary orotic aciduria, type 1" EXACT [] synonym: "OAWA" NARROW [] synonym: "OPRT AND ODC DEFICIENCY" EXACT [] synonym: "Orotate phosphoribosyltransferase and omp decarboxylase deficiency" EXACT [] synonym: "OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY" EXACT [] synonym: "Oroticaciduria 1" EXACT [] synonym: "OROTIC ACIDURIA I" EXACT [] synonym: "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" EXACT [] synonym: "UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA" NARROW [] synonym: "UMPS-RELATED CONDITION" EXACT [] synonym: "UMP SYNTHASE DEFICIENCY" EXACT [] synonym: "Uridine monophosphate synthase deficiency" EXACT [] synonym: "uridine monophosphate synthetase deficiency" EXACT [] xref: MESH:C537136 xref: NCI:C98944 xref: ORDO:30 is_a: DOID:0050832 ! pyrimidine metabolic disorder is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:0050834 name: CHARGE syndrome alt_id: MIM:214800 def: "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)" [http://en.wikipedia.org/wiki/CHARGE_syndrome "DO", http://ghr.nlm.nih.gov/condition/charge-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract "DO"] synonym: "CHARGE association" EXACT [] synonym: "CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies" EXACT [] synonym: "CHARGE Associations" EXACT [] synonym: "CHARGE Syndromes" EXACT [] synonym: "CHD7-RELATED CONDITION" BROAD [] synonym: "familial CHARGE syndrome" EXACT [] synonym: "familial CHARGE syndromes" EXACT [] synonym: "Hall Hittner syndrome" EXACT [] synonym: "HHS" EXACT [] xref: GARD:29 xref: MESH:D058747 xref: NCI:C75100 xref: ORDO:138 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050835 name: generalized dystonia def: "A dystonia that affects most or all of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] synonym: "fragments of torsion dystonia" EXACT [] synonym: "idiopathic familial dystonia" EXACT [] synonym: "idiopathic non-familial dystonia" EXACT [] synonym: "symptomatic torsion dystonia" EXACT [] xref: ICD10CM:G24.2 xref: ICD9CM:333.6 xref: ICD9CM:333.8 xref: NCI:C34564 xref: NCI:C35437 xref: NCI:C35438 xref: NCI:C35527 is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0050836 name: focal dystonia alt_id: MIM:611284 def: "A dystonia that is localized to a specific part of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] synonym: "focal dystonias" EXACT [] synonym: "focal dystonia, task-specific" EXACT [] synonym: "FTSD" EXACT [] synonym: "Musician's Dystonia" EXACT [] synonym: "occupational cramp" EXACT [] synonym: "occupational dystonia" EXACT [] synonym: "task-specific dystonia" EXACT [] xref: GARD:6458 xref: MESH:C566973 is_a: DOID:543 ! dystonia [Term] id: DOID:0050837 name: multifocal dystonia def: "A dystonia that involves two or more unrelated body parts. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] xref: RDO:9002844 is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050838 name: segmental dystonia def: "A dystonia that affects two or more adjacent parts of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050839 name: anismus def: "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO)" [https://en.wikipedia.org/wiki/Anismus "DO"] xref: RDO:9003190 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050840 name: cervical dystonia def: "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)" [http://en.wikipedia.org/wiki/Spasmodic_torticollis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1155/ "DO"] synonym: "intermittent torticollis" EXACT [] synonym: "Psychogenic Torticollis" EXACT [] synonym: "Spasmodic Torticollis" EXACT [] synonym: "Torticollis" EXACT [] synonym: "wryneck" EXACT [] xref: GARD:10668 xref: MESH:D014103 is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0050841 name: focal hand dystonia def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO)" [http://en.wikipedia.org/wiki/Dystonia "DO"] synonym: "organic writer's cramp" EXACT [] xref: ICD9CM:333.84 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0050842 name: oculogyric crisis def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO)" [http://en.wikipedia.org/wiki/Oculogyric_crisis "DO"] xref: RDO:9003198 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050843 name: oromandibular dystonia def: "A focal dystonia that is characterized by distortions of the mouth and tongue. (DO)" [http://en.wikipedia.org/wiki/Oromandibular_dystonia "DO"] xref: RDO:9003200 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050844 name: spasmodic dystonia def: "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO)" [http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx "DO"] synonym: "laryngeal dystonia" EXACT [] is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050845 name: cranio-facial dystonia def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] xref: RDO:9003204 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050846 name: hemidystonia def: "A multifocal dystonia that involves the arm and leg on the same side of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] is_a: DOID:0050837 ! multifocal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050847 name: sleep apnea def: "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO)" [http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ "DO"] synonym: "hypersomnia with periodic respiration" EXACT [] synonym: "sleep apneas" EXACT [] synonym: "sleep apnea syndrome" EXACT [] synonym: "sleep disordered breathing" EXACT [] synonym: "sleep hypopnea" EXACT [] xref: EFO:0003877 xref: ICD9CM:780.57 xref: MESH:D012891 xref: NCI:C26884 is_a: DOID:9000166 ! Intrinsic Sleep Disorders is_a: DOID:9004992 ! Apnea [Term] id: DOID:0050848 name: obstructive sleep apnea alt_id: MIM:107650 def: "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)" [http://en.wikipedia.org/wiki/Obstructive_sleep_apnea "DO", http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 "DO"] synonym: "obstructive sleep apneas" EXACT [] synonym: "obstructive sleep apnea syndrome" EXACT [] synonym: "OSAHS" EXACT [] synonym: "Sleep Apnea Hypopnea Syndrome" EXACT [] synonym: "upper airway resistance sleep apnea syndrome" EXACT [] xref: EFO:0003918 xref: ICD10CM:G47.33 xref: ICD9CM:327.23 xref: MESH:D020181 xref: NCI:C116337 xref: NCI:C27168 is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:0050849 name: periampullary adenoma def: "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/ "DO"] synonym: "periampullary adenoma, somatic" EXACT [] is_a: DOID:10022 ! ampulla of Vater benign neoplasm is_a: DOID:657 ! adenoma created_by: slaulederkind creation_date: 2010-03-19T00:00:00Z [Term] id: DOID:0050850 name: diabetic encephalopathy def: "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)" [http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20798963 "DO"] synonym: "diabetic encephalopathies" EXACT [] is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:936 ! brain disease [Term] id: DOID:0050851 name: glomerulosclerosis def: "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)" [http://en.wikipedia.org/wiki/Glomerulosclerosis "DO"] is_a: DOID:0050855 ! renal fibrosis is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:0050852 name: limb ischemia def: "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO)" [https://en.wikipedia.org/wiki/Ischemia "DO"] is_a: DOID:326 ! ischemia [Term] id: DOID:0050853 name: chronic venous insufficiency def: "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO)" [https://en.wikipedia.org/wiki/Chronic_venous_insufficiency "DO"] synonym: "Chronic Venous Disease" EXACT [] synonym: "Chronic Venous Insufficiencies" EXACT [] xref: EFO:0007940 xref: RDO:9000012 is_a: DOID:10128 ! venous insufficiency [Term] id: DOID:0050854 name: Muckle-Wells syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11687797 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11992256 "DO"] synonym: "CAPS2" EXACT [] synonym: "cryopyrin-associated periodic syndrome 2" EXACT [] synonym: "MWS" EXACT [] synonym: "neutrophilic urticaria" EXACT [] synonym: "UDA syndrome" EXACT [] synonym: "urticaria-deafness-amyloidosis syndrome" EXACT [] xref: GARD:8472 xref: ICD10CM:M04.2 xref: MIM:191900 xref: NCI:C119054 xref: ORDO:575 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1555 ! urticaria is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes is_a: DOID:9008681 ! Deafness is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0050855 name: renal fibrosis def: "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/ "DO"] synonym: "kidney fibrosis" EXACT [] xref: EFO:1001517 is_a: DOID:557 ! kidney disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:0050856 name: oppositional defiant disorder def: "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO)" [https://en.wikipedia.org/wiki/Oppositional_defiant_disorder "DO"] is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders [Term] id: DOID:0050857 name: Perrault syndrome def: "A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO)" [http://ghr.nlm.nih.gov/gene/LARS2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23541340 "DO"] xref: GARD:2542 xref: MIM:PS233400 xref: ORDO:2855 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0050858 name: Marshall-Smith syndrome alt_id: MIM:602535 def: "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)" [http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome "DO", http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1 "DO"] synonym: "MRSHSS" EXACT [] synonym: "NFIX-RELATED CONDITION" BROAD [] xref: GARD:6985 xref: MESH:C536026 xref: ORDO:561 is_a: DOID:0060857 ! septooptic dysplasia is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050859 name: hemorrhagic cystitis def: "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO)" [https://en.wikipedia.org/wiki/Hemorrhagic_cystitis "DO"] is_a: DOID:1679 ! cystitis [Term] id: DOID:0050860 name: colorectal adenoma def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO)" [https://en.wikipedia.org/wiki/Colorectal_adenoma "DO"] synonym: "colonic adenoma recurrence, reduced risk of" RELATED [] synonym: "Colorectal Sessile Serrated Adenoma/Polyp" NARROW [] xref: EFO:0005406 xref: EFO:1000197 xref: NCI:C5673 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9008443 ! Colorectal Neoplasms [Term] id: DOID:0050861 name: colorectal adenocarcinoma def: "A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "colorectal mucinous adenocarcinoma" NARROW [] synonym: "colorectal serrated adenocarcinoma" NARROW [] xref: EFO:0000365 xref: EFO:0009361 xref: EFO:1000196 xref: NCI:C5105 is_a: DOID:0080199 ! colorectal carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0050862 name: pyometritis def: "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16284801 "DO"] is_a: DOID:345 ! uterine disease is_a: DOID:9005889 ! Suppuration [Term] id: DOID:0050863 name: arteritic anterior ischemic optic neuropathy def: "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)" [https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy "DO"] is_a: DOID:12010 ! anterior ischemic optic neuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0050864 name: non-arteritic anterior ischemic optic neuropathy def: "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)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/ "DO"] synonym: "AION" BROAD [] synonym: "anterior ischemic optic neuropathy, susceptibility to" RELATED [] synonym: "NAION" EXACT [] synonym: "NAION, SUSCEPTIBILITY TO" RELATED [] synonym: "non-arteritic AION" EXACT [] synonym: "non-arteritic anterior ischaemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" RELATED [] xref: MIM:258660 is_a: DOID:12010 ! anterior ischemic optic neuropathy [Term] id: DOID:0050865 name: tongue squamous cell carcinoma def: "A head and neck squamous cell carcinoma that is located_in the tongue. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"] synonym: "SCCT" EXACT [] xref: EFO:1000055 xref: NCI:C4648 xref: RDO:9000054 is_a: DOID:5520 ! head and neck squamous cell carcinoma is_a: DOID:8649 ! tongue cancer [Term] id: DOID:0050866 name: oral squamous cell carcinoma def: "An oral cavity cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "mouth squamous cell carcinoma" EXACT [] synonym: "OSCC" EXACT [] xref: EFO:0000199 xref: GARD:7263 xref: NCI:C132823 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma [Term] id: DOID:0050868 name: hepatocellular adenoma def: "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)" [https://en.wikipedia.org/wiki/Hepatocellular_adenoma "DO"] synonym: "Benign Hepatoma" EXACT [] synonym: "benign hepatomas" EXACT [] synonym: "hepatocellular adenomas" EXACT [] synonym: "liver cell adenoma" EXACT [] synonym: "liver cell adenomas" EXACT [] xref: EFO:0000762 xref: MESH:D018248 is_a: DOID:657 ! adenoma is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:0050869 name: villous adenoma def: "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma "DO"] synonym: "villous adenomas" EXACT [] xref: ICDO:8261/0 xref: MESH:D018253 is_a: DOID:657 ! adenoma [Term] id: DOID:0050870 name: pulmonary adenocarcinoma in situ def: "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO)" [http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma "DO"] is_a: DOID:3910 ! lung adenocarcinoma is_a: DOID:8800 ! lung carcinoma in situ created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0050871 name: fibroma def: "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)" [https://en.wikipedia.org/wiki/Fibroma "DO"] synonym: "fibromas" EXACT [] synonym: "fibromatoses" EXACT [] synonym: "fibromatosis" EXACT [] synonym: "Fibromyxoma" EXACT [] synonym: "fibromyxomas" EXACT [] synonym: "myxofibroma" EXACT [] synonym: "myxofibromas" EXACT [] synonym: "Superficial Fibromatosis" NARROW [] xref: EFO:0000497 xref: EFO:0002424 xref: EFO:1000148 xref: EFO:1000556 xref: ICDO:8810/0 xref: MESH:D005350 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:9008446 ! Fibrous Tissue Neoplasms [Term] id: DOID:0050872 name: large cell neuroendocrine carcinoma def: "A lung large cell carcinoma that derives_from neuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15999058 "DO"] xref: EFO:0000563 xref: ICDO:8013/3 is_a: DOID:4552 ! large cell carcinoma is_a: DOID:4556 ! lung large cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0050873 name: follicular lymphoma alt_id: MIM:613024 def: "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)" [http://en.wikipedia.org/wiki/Follicular_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=428287 "DO"] synonym: "Brill Symmers Disease" EXACT [] synonym: "Cutaneous Follicular Lymphoma" NARROW [] synonym: "FL1" EXACT [] synonym: "Follicular Large Cell Lymphoma" EXACT [] synonym: "follicular large-cell lymphomas" EXACT [] synonym: "Follicular Lymphoma, Grade 1" EXACT [] synonym: "Follicular Lymphoma, Grade 2" EXACT [] synonym: "Follicular Lymphoma, Grade 3" EXACT [] synonym: "Follicular Lymphomas" EXACT [] synonym: "Follicular Lymphoma, Somatic" EXACT [] synonym: "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "Follicular Mixed Cell Lymphoma" EXACT [] synonym: "Follicular Mixed-Cell Lymphomas" EXACT [] synonym: "follicular small cleaved cell lymphoma" EXACT [] synonym: "Giant Follicular Lymphoma" EXACT [] synonym: "Giant Follicular Lymphomas" EXACT [] synonym: "Large Lymphoid Lymphoma, Nodular" EXACT [] synonym: "Lymphocytic Lymphoma, Nodular, Poorly Differentiated" EXACT [] synonym: "Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic" EXACT [] synonym: "Lymphoma, Follicular, Mixed Small and Large Lymphoid" EXACT [] synonym: "Lymphoma, Follicular, Small and Large Cleaved Cell" EXACT [] synonym: "Lymphoma, Nodular, Mixed Lymphocytic Histiocytic" EXACT [] synonym: "Lymphoma, Nodular, Mixed Small and Large Cell" EXACT [] synonym: "Lymphoma, Small Lymphoid, Follicular" EXACT [] synonym: "Nodular Histiocytic Lymphoma" EXACT [] synonym: "Nodular Histiocytic Lymphomas" EXACT [] synonym: "Nodular Large Follicular Center Cell Lymphoma" EXACT [] synonym: "Nodular Lymphoma" EXACT [] synonym: "Nodular Lymphomas" EXACT [] synonym: "small follicular center cell lymphoma" EXACT [] xref: EFO:1000211 xref: GARD:2356 xref: ICDO:9690/3 xref: MESH:D008224 xref: MONDO:0018906 xref: NCI:C3209 xref: NCI:C3465 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0050876 name: Caroli disease def: "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO)" [http://en.wikipedia.org/wiki/Caroli_disease "DO", http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract "DO"] synonym: "Caroli's disease" EXACT [] synonym: "Carolis Disease" EXACT [] xref: EFO:1001286 xref: GARD:6002 xref: MESH:D016767 xref: MONDO:0010913 xref: NCI:C84619 is_a: DOID:0060340 ! ciliopathy is_a: DOID:899 ! choledochal cyst [Term] id: DOID:0050877 name: pancreatic agenesis alt_id: MIM:PS260370 def: "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf "DO"] synonym: "congenital pancreatic agenesis" EXACT [] synonym: "congenital pancreatic hypoplasia" EXACT [] synonym: "PAGEN" EXACT [] synonym: "PANCREATIC HYPOPLASIA" EXACT [] synonym: "partial pancreatic agenesis" EXACT [] xref: GARD:4203 xref: MESH:C564908 xref: ORDO:2805 is_a: DOID:26 ! pancreas disease [Term] id: DOID:0050879 name: fragile X-associated tremor/ataxia syndrome alt_id: MIM:300623 def: "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)" [http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome "DO", http://omim.org/entry/300623 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18195136 "DO"] synonym: "Fragile X Tremor Ataxia Syndrome" EXACT [] synonym: "FXTAS" EXACT [] synonym: "FXTAS syndrome" EXACT [] xref: MESH:C564105 xref: NCI:C126566 xref: ORDO:93256 is_a: DOID:0050953 ! X-linked hereditary ataxia is_a: DOID:14261 ! fragile X syndrome is_a: DOID:9000495 ! Tremor [Term] id: DOID:0050880 name: Koolen de Vries syndrome alt_id: DOID:0070076 alt_id: MIM:610443 alt_id: RDO:0014820 def: "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)" [http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome "DO", http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome "DO", http://omim.org/entry/610443 "DO", http://www.17q21.com/en/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK24676/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19447831 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22544363 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22544367 "DO"] synonym: "17q21.31 deletion syndrome" EXACT [] synonym: "17q21.31 microdeletion syndrome" EXACT [] synonym: "Chromosome 17q21.31 Deletion Syndrome" EXACT [] synonym: "Chromosome 17q21.31 Microdeletion Syndrome" EXACT [] synonym: "KANSL1-RELATED CONDITION" EXACT [] synonym: "KANSL1-related intellectual disability syndrome" EXACT [] synonym: "KDVS" EXACT [] synonym: "Koolen syndrome" EXACT [] synonym: "monosomy 17q21.31" EXACT [] xref: GARD:10727 xref: MESH:C566476 xref: ORDO:96169 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050881 name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia def: "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)" [http://omim.org/entry/167320 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19380227 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21304887 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21892620 "DO"] synonym: "IBMPFD" EXACT [] synonym: "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA" EXACT [] synonym: "inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia" EXACT [] synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [] synonym: "Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia" EXACT [] synonym: "Lower Motor Neuron Degeneration With Paget-Like Bone Disease" EXACT [] synonym: "Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone" EXACT [] synonym: "Pagetoid Amyotrophic Lateral Sclerosis" EXACT [] synonym: "pagetoid neuroskeletal syndrome" EXACT [] xref: MESH:C563476 xref: MIM:PS167320 xref: ORDO:52430 is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:225 ! syndrome is_a: DOID:3429 ! inclusion body myositis is_a: DOID:5408 ! Paget's disease of bone is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0050882 name: spinocerebellar ataxia type 5 def: "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)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20368622 "DO"] synonym: "SCA5" EXACT [] synonym: "spinocerebellar ataxia 5" EXACT [] synonym: "SPTBN2-RELATED CONDITION" BROAD [] xref: GARD:4953 xref: MIM:600224 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050883 name: infantile cerebellar-retinal degeneration def: "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)" [http://omim.org/entry/614559 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 "DO", http://www.uniprot.org/diseases/DI-03409 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22405087 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23438437 "DO"] synonym: "ACO2-RELATED CONDITION" BROAD [] synonym: "ACO2-RELATED DISORDER" BROAD [] synonym: "ICRD" EXACT [] xref: GARD:13264 xref: MIM:614559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5723 ! optic atrophy is_a: DOID:8466 ! retinal degeneration is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008739 ! Athetosis is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:0050884 name: triosephosphate isomerase deficiency alt_id: MIM:615512 def: "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)" [http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency "DO", http://omim.org/entry/615512 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport "DO", https://www.ncbi.nlm.nih.gov/pubmed/16980388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17424909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23318931 "DO"] synonym: "TPID" EXACT [] synonym: "TPI-Hungary" RELATED [] synonym: "triose phosphate-isomerase deficiency" EXACT [] xref: GARD:5287 xref: MESH:C566029 xref: NCI:C131652 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:0050885 name: IMAGe syndrome alt_id: MIM:202155 alt_id: MIM:614732 def: "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)" [http://omim.org/entry/614732 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14760276 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22634751 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23719190 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24065356 "DO"] synonym: "Adrenal Hypoplasia, Cytomegalic Type" EXACT [] synonym: "IMAGE" EXACT [] synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [] synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" EXACT [] xref: GARD:12312 xref: MESH:C564543 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0050886 name: Troyer syndrome alt_id: MIM:275900 def: "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)" [http://en.wikipedia.org/wiki/SPG20 "DO", http://ghr.nlm.nih.gov/condition/troyer-syndrome "DO", http://ghr.nlm.nih.gov/gene/SPG20 "DO", http://omim.org/entry/275900 "DO", 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 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301556 "DO"] synonym: "autosomal recessive spastic paraplegia 20" EXACT [] synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [] synonym: "autosomal recessive spastic paraplegia type 20" EXACT [] synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [] synonym: "Cross-McKusick syndrome" EXACT [] synonym: "hereditary spastic paraplegia 20" EXACT [] synonym: "SPART-RELATED CONDITION" EXACT [] synonym: "spastic paraplegia 20" EXACT [] synonym: "spastic paraplegia type 20" EXACT [] synonym: "spastic paraplegia with distal muscle wasting" EXACT [] synonym: "SPG20" EXACT [] xref: GARD:5372 xref: MESH:C536858 xref: ORDO:101000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0050887 name: Townes-Brocks syndrome alt_id: MIM:107480 def: "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)" [http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome "DO", http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome "DO", http://www.omim.org/entry/107480 "DO", 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 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12925729 "DO"] synonym: "anal-ear-renal-radial malformation syndrome" EXACT [] synonym: "Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome" EXACT [] synonym: "imperforate anus-hand and foot anomalies syndrome" EXACT [] synonym: "imperforate anus with hand, foot, and ear anomalies" EXACT [] synonym: "REAR syndrome" EXACT [] synonym: "renal-ear-anal-radial syndrome" EXACT [] synonym: "renal-ear-anal-radial syndrome (rear)" EXACT [] synonym: "SALL1-RELATED CONDITION" EXACT [] synonym: "sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome" EXACT [] synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT [] synonym: "sensorineural deafness with imperforate anus and thumb anomalies" EXACT [] synonym: "TBS1" EXACT [] synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [] synonym: "Townes-Brocks syndrome 1" EXACT [] synonym: "Townes Syndrome" EXACT [] xref: GARD:7784 xref: MESH:C536974 xref: MIM:PS107480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10488 ! imperforate anus is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050888 name: syndromic intellectual disability def: "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)" [http://en.wikipedia.org/wiki/Intellectual_disability "DO"] is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050889 name: non-syndromic intellectual disability def: "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Intellectual_disability "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ "DO"] is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050890 name: synucleinopathy def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)" [http://en.wikipedia.org/wiki/Synucleinopathies "DO"] synonym: "α-synucleinopathy" EXACT [] synonym: "alpha synucleinopathies" EXACT [] synonym: "alpha-synucleinopathy" EXACT [] synonym: "alpha synuclein pathologies" EXACT [] synonym: "alpha synuclein pathology" EXACT [] synonym: "a-synucleinopathies" EXACT [] synonym: "a-synucleinopathy" EXACT [] synonym: "synucleinopathies" EXACT [] xref: MESH:D000080874 xref: MONDO:0000510 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9000842 ! Proteostasis Deficiencies created_by: rgd creation_date: 2017-07-13T00:00:00Z [Term] id: DOID:0050891 name: adrenal cortical adenoma def: "An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_adenoma "DO"] synonym: "adrenal cortical adenomas" EXACT [] synonym: "adrenocortical adenoma" EXACT [] synonym: "adrenocortical adenomas" EXACT [] synonym: "Aldosterone Producing Adrenal Cortex Adenoma" NARROW [] synonym: "Conn's disease" EXACT [] synonym: "Conn Adenoma" EXACT [] synonym: "Conn adenomas" EXACT [] synonym: "Conn disease" EXACT [] synonym: "Conns disease" EXACT [] synonym: "Cortisol-Producing Adrenal Cortex Adenoma" NARROW [] synonym: "Non-Functioning Adrenal Cortex Adenoma" NARROW [] synonym: "Sex Hormone-Producing Adrenal Cortex Adenoma" NARROW [] xref: EFO:0003104 xref: EFO:1000208 xref: EFO:1000399 xref: EFO:1000523 xref: ICDO:8370/0 xref: MESH:D018246 xref: NCI:C9003 is_a: DOID:656 ! adrenal adenoma is_a: DOID:9005582 ! Adrenal Cortex Neoplasms [Term] id: DOID:0050892 name: adrenal gland pheochromocytoma def: "A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma "DO", http://en.wikipedia.org/wiki/Pheochromocytoma "DO", http://www.cancer.gov/cancertopics/types/pheochromocytoma "DO"] synonym: "Malignant Adrenal Gland Pheochromocytoma" EXACT [] xref: EFO:0000239 xref: EFO:1000348 xref: NCI:C121568 xref: NCI:C134960 xref: NCI:C3326 is_a: DOID:0080347 ! malignant pheochromocytoma created_by: rgd creation_date: 2017-02-06T17:14:16Z [Term] id: DOID:0050893 name: gallbladder adenoma def: "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] xref: EFO:1000263 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050894 name: ameloblastoma def: "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO)" [http://en.wikipedia.org/wiki/Ameloblastoma "DO"] synonym: "ameloblastomas" EXACT [] synonym: "plexiform ameloblastoma" NARROW [] xref: EFO:1000487 xref: GARD:5747 xref: ICDO:9310/0 xref: MESH:D000564 xref: MONDO:0017795 xref: NCI:C4313 xref: ORDO:314419 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:9006134 ! Odontogenic Tumors is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:0050895 name: bone ameloblastoma def: "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Ameloblastoma "DO"] is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:0050896 name: bone squamous cell carcinoma def: "A bone carcinoma that derives_from squamous epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2762 ! bone carcinoma [Term] id: DOID:0050897 name: bone chondrosarcoma def: "A chondrosarcoma that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Chondrosarcoma "DO"] xref: EFO:0010832 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050898 name: phalanx chondroma def: "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO)" [http://en.wikipedia.org/wiki/Chondroma "DO"] xref: RDO:9004367 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:2602 ! chondroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050899 name: brain stem medulloblastoma def: "A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO"] is_a: DOID:0050902 ! medulloblastoma is_a: DOID:4203 ! brain stem cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050900 name: sacrum chordoma def: "A spinal chordoma that is located_in the sacrum. (DO)" [http://en.wikipedia.org/wiki/Sacrum "DO", http://www.cancer.gov/dictionary?CdrID=45297 "DO"] synonym: "sacral chordoma" EXACT [] xref: NCI:C129927 is_a: DOID:4153 ! spinal chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0050901 name: corpus callosum oligodendroglioma def: "A brain oligodendroglioma located_in the corpus callosum. (DO)" [http://en.wikipedia.org/wiki/Corpus_callosum "DO", http://en.wikipedia.org/wiki/Oligodendroglioma "DO", http://www.cancer.gov/dictionary?CdrID=46257 "DO"] is_a: DOID:3187 ! brain oligodendroglioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050902 name: medulloblastoma alt_id: MIM:155255 def: "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO", http://www.cancer.gov/dictionary?CdrID=45780 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ "DO"] synonym: "brain medulloblastoma" EXACT [] synonym: "circumscribed arachnoidal cerebellar sarcoma" EXACT [] synonym: "CLASSIC MEDULLOBLASTOMA" NARROW [] synonym: "CNS PNET" EXACT [] synonym: "CPNET" EXACT [] synonym: "desmoplastic medulloblastoma" EXACT [] synonym: "desmoplastic medulloblastomas" EXACT [] synonym: "infratentorial primitive neuroectodermal tumor" EXACT [] synonym: "localized primitive neuroectodermal tumor" EXACT [] synonym: "MBEN" NARROW [] synonym: "MDB" EXACT [] synonym: "Medulloblastoma, histologically defined" EXACT [] synonym: "medulloblastoma predisposition syndrome" EXACT [] synonym: "medulloblastomas" EXACT [] synonym: "medulloblastoma, somatic" NARROW [] synonym: "medulloblastoma with extensive nodularity" NARROW [] synonym: "melanocytic medulloblastoma" EXACT [] synonym: "melanocytic medulloblastomas" EXACT [] synonym: "PTCH2-RELATED CONDITION" BROAD [] xref: EFO:0002939 xref: GARD:7005 xref: ICDO:9470/3 xref: MESH:D008527 xref: NCI:C27294 xref: NCI:C3222 xref: NCI:C3716 xref: ORDO:616 is_a: DOID:4706 ! infratentorial cancer is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors [Term] id: DOID:0050903 name: parietal lobe ependymoma def: "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO)" [http://www.cancer.gov/dictionary?CdrID=46432 "DO"] is_a: DOID:14384 ! parietal lobe neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0050904 name: salivary gland carcinoma def: "A salivary gland cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Salivary_gland_neoplasm "DO", http://www.cancer.gov/dictionary?CdrID=45963 "DO"] synonym: "Major Salivary Gland Carcinoma" NARROW [] synonym: "Minor Salivary Gland Adenocarcinoma" NARROW [] synonym: "Salivary Gland Adenosquamous Carcinoma" NARROW [] synonym: "Salivary Gland Basal Cell Adenocarcinoma" NARROW [] synonym: "Salivary Gland Large Cell Carcinoma" NARROW [] synonym: "salivary gland squamous cell carcinoma" NARROW [] xref: EFO:1000344 xref: EFO:1000379 xref: EFO:1000514 xref: EFO:1000516 xref: EFO:1000517 xref: EFO:1001967 is_a: DOID:305 ! carcinoma is_a: DOID:8850 ! salivary gland cancer created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050905 name: inflammatory myofibroblastic tumor def: "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23091756 "DO"] synonym: "Bladder Inflammatory Myofibroblastic Tumor" NARROW [] synonym: "Lung Inflammatory Myofibroblastic Tumor" NARROW [] synonym: "myofibroblastic tumor" EXACT [] synonym: "Retroperitoneal Inflammatory Myofibroblastic Tumor" NARROW [] xref: EFO:1000127 xref: EFO:1000333 xref: EFO:1000510 xref: GARD:7146 is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:0050906 name: conjunctival nevus def: "A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO)" [http://en.wikipedia.org/wiki/Conjunctiva "DO", http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors "DO"] xref: EFO:1000205 xref: RDO:9002409 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:9008245 ! Conjunctival Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050907 name: mixed extragonadal germ cell cancer def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO", http://www.cancer.gov/dictionary?CdrID=444993 "DO"] xref: MONDO:0000524 is_a: DOID:3306 ! mixed germ cell cancer is_a: DOID:4717 ! extragonadal germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050908 name: myelodysplastic syndrome alt_id: MIM:614286 def: "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO)" [http://en.wikipedia.org/wiki/Myelodysplastic_syndrome "DO", http://www.cancer.gov/dictionary?CdrID=45266 "DO"] synonym: "ASXL1-RELATED CONDITION" BROAD [] synonym: "dysmyelopoietic syndrome" EXACT [] synonym: "dysmyelopoietic syndromes" EXACT [] synonym: "hematopoetic myelodysplasia" EXACT [] synonym: "hematopoetic myelodysplasias" EXACT [] synonym: "MDS" EXACT [] synonym: "myelodysplasia" NARROW [] synonym: "myelodysplastic syndrome progressed to acute myeloid leukemia" NARROW [] synonym: "myelodysplastic syndromes" EXACT [] synonym: "myelodysplastic syndrome, susceptibility to" RELATED [] synonym: "TET2-RELATED CONDITION" BROAD [] xref: EFO:0000198 xref: GARD:7132 xref: ICDO:9989/3 xref: MESH:D009190 xref: NCI:C3247 is_a: DOID:225 ! syndrome is_a: DOID:4960 ! bone marrow cancer [Term] id: DOID:0050909 name: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue def: "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO)" [http://www.cancer.gov/dictionary?CdrID=45774 "DO", http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt "DO"] synonym: "Breast Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW [] synonym: "LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE" EXACT [] synonym: "Lymphoma of Mucosa Associated Lymphoid Tissue" EXACT [] synonym: "MALT lymphoma" EXACT [] synonym: "MALT lymphoma of the dura" EXACT [] synonym: "mucosa associated lymphoid tissue lymphoma" EXACT [] synonym: "Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW [] synonym: "Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW [] xref: EFO:0000191 xref: EFO:1000146 xref: EFO:1000537 xref: EFO:1000591 xref: ICDO:9699/3 xref: MIM:137245 xref: NCI:C3898 is_a: DOID:0050748 ! marginal zone lymphoma created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050910 name: cecum adenoma def: "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "caecum adenoma" EXACT [] synonym: "Cecum Villous Adenoma" NARROW [] xref: EFO:1000155 is_a: DOID:1517 ! cecal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050911 name: appendix carcinoid tumor def: "An appendix cancer that has_material_basis_in neurodendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoid "DO", http://www.cancer.gov/dictionary?CdrID=44233 "DO"] synonym: "appendix carcinoid endocrine tumour" EXACT [] synonym: "Appendix Goblet Cell Carcinoid" NARROW [] synonym: "Appendix Neuroendocrine Tumor G1" NARROW [] xref: EFO:1000090 xref: EFO:1000092 is_a: DOID:11239 ! appendix cancer [Term] id: DOID:0050912 name: colon adenoma def: "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Colorectal_adenoma "DO", http://www.cancer.gov/dictionary?CdrID=46217 "DO"] is_a: DOID:235 ! colonic benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050913 name: large intestine adenocarcinoma def: "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)" [http://www.cancer.gov/dictionary?CdrID=46216 "DO"] xref: EFO:0000365 xref: RDO:9001839 is_a: DOID:299 ! adenocarcinoma is_a: DOID:5672 ! large intestine cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0050914 name: large intestine adenoma def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] xref: EFO:0005406 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050915 name: rectal adenoma def: "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "rectal traditional serrated adenoma" NARROW [] synonym: "rectal tubular adenoma" NARROW [] synonym: "Rectal Tubulovillous Adenoma" NARROW [] synonym: "rectal villous adenoma" NARROW [] synonym: "rectum adenoma" EXACT [] xref: EFO:1000503 xref: EFO:1000504 xref: EFO:1000505 xref: EFO:1000506 xref: NCI:C5546 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050916 name: bronchus mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the bronchus. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] is_a: DOID:3904 ! bronchus carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050917 name: lung combined type small cell adenocarcinoma def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=45327 "DO", http://www.cancer.gov/dictionary?CdrID=46216 "DO"] is_a: DOID:299 ! adenocarcinoma is_a: DOID:5421 ! lung combined type small cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050918 name: vaginal carcinoma def: "A vaginal cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "Vaginal Adenoid Cystic Carcinoma" NARROW [] synonym: "Vaginal Squamous Cell Carcinoma" NARROW [] xref: EFO:1000617 xref: EFO:1000620 is_a: DOID:119 ! vaginal cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0050919 name: trachea mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] is_a: DOID:4531 ! mucoepidermoid carcinoma is_a: DOID:4876 ! trachea carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:0050920 name: tonsil squamous cell carcinoma def: "A tonsil cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] xref: EFO:1000597 xref: RDO:9002338 is_a: DOID:0050921 ! pharynx squamous cell carcinoma is_a: DOID:8858 ! tonsil cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050921 name: pharynx squamous cell carcinoma def: "A pharynx cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "pharyngeal squamous cell carcinoma" EXACT [] xref: EFO:1001965 xref: NCI:C102872 xref: RDO:9002336 is_a: DOID:0060119 ! pharynx cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050922 name: gastrointestinal carcinoma def: "A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] xref: EFO:1000218 xref: RDO:9004722 is_a: DOID:305 ! carcinoma is_a: DOID:3119 ! gastrointestinal system cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0050923 name: spindle epithelial tumor with thymus-like differentiation tumor def: "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)" [http://www.pathologyoutlines.com/topic/thyroidsettle.html "DO", http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext "DO", https://www.ncbi.nlm.nih.gov/pubmed/19417583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2050369 "DO"] synonym: "SETTLE tumor" EXACT [] synonym: "SETTLE tumour" EXACT [] synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT [] xref: EFO:1000593 is_a: DOID:3963 ! thyroid gland carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050924 name: striated muscle rhabdoid tumor def: "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)" [http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour "DO", http://www.cancer.gov/dictionary?CdrID=46139 "DO"] is_a: DOID:4045 ! muscle cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:0050925 name: small intestine carcinoid neuroendocrine tumor def: "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Carcinoid "DO"] synonym: "intestinal carcinoid tumour" BROAD [] is_a: DOID:10154 ! small intestine cancer is_a: DOID:169 ! neuroendocrine tumor created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0050926 name: jejunal adenocarcinoma def: "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] is_a: DOID:13499 ! jejunal cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0050927 name: duodenum adenoma def: "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "Duodenal Villous Adenoma" NARROW [] xref: EFO:1000225 is_a: DOID:1737 ! duodenal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050928 name: ovarian melanoma def: "An ovarian cancer that has_material_basis_in melanoctyes. (DO)" [http://en.wikipedia.org/wiki/Melanoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15166669 "DO"] is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:0050929 name: mucosal melanoma def: "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic "DO"] xref: NCI:C114828 is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0050930 name: sublingual gland adenoid cystic carcinoma def: "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)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO"] is_a: DOID:8849 ! sublingual gland cancer [Term] id: DOID:0050931 name: parotid gland adenoid cystic carcinoma def: "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)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO", http://en.wikipedia.org/wiki/Parotid_gland "DO"] xref: EFO:1000459 is_a: DOID:9036 ! parotid gland cancer [Term] id: DOID:0050932 name: lung mucoepidermoid carcinoma def: "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] synonym: "pulmonary mucoepidermoid carcinoma" EXACT [] xref: EFO:0006740 xref: EFO:1000038 xref: NCI:C45544 xref: RDO:9001989 is_a: DOID:3905 ! lung carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0050933 name: ovarian serous carcinoma def: "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO)" [http://en.wikipedia.org/wiki/Serous_carcinoma "DO"] xref: EFO:0002917 xref: EFO:1001516 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:0050934 name: ovarian clear cell carcinoma def: "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma "DO"] is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:0050935 name: cervical neuroblastoma def: "An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuroblastoma "DO", http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 "DO", http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15390353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9262064 "DO"] is_a: DOID:371 ! extracranial neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050936 name: extra-adrenal pheochromocytoma def: "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)" [http://en.wikipedia.org/wiki/Pheochromocytoma "DO"] synonym: "Malignant Bladder Paraganglioma" NARROW [] xref: EFO:0000489 xref: EFO:1000349 is_a: DOID:0080347 ! malignant pheochromocytoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050937 name: retroperitoneal neuroblastoma def: "A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuroblastoma "DO", http://en.wiktionary.org/wiki/retroperitoneal "DO"] is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:0050938 name: breast lobular carcinoma def: "A breast carcinoma that derives_from breast lobules (milk glands). (DO)" [http://cancergenome.nih.gov/cancersselected/breastlobular "DO", http://www.cancer.gov/dictionary?CdrID=426416 "DO"] synonym: "lobular carcinoma" EXACT [] synonym: "lobular carcinoma of breast" EXACT [] synonym: "lobular carcinoma of the breast" EXACT [] synonym: "lobular carcinomas" EXACT [] xref: EFO:0000570 xref: EFO:0008509 xref: ICDO:8520/3 xref: MESH:D018275 xref: NCI:C3771 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3459 ! breast carcinoma is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:0050939 name: uterine corpus endometrial carcinoma def: "A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ "DO"] is_a: DOID:2871 ! endometrial carcinoma is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050940 name: endocervical adenocarcinoma def: "An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12207781 "DO"] xref: MONDO:0000554 is_a: DOID:3702 ! cervical adenocarcinoma is_a: DOID:7519 ! endocervical carcinoma created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0050941 name: spastic ataxia 2 alt_id: MIM:611302 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17273843 "DO"] synonym: "spastic ataxia 2, autosomal recessive" EXACT [] synonym: "SPAX2" EXACT [] xref: MESH:C566969 xref: NCI:C177252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0050942 name: spastic ataxia 3 alt_id: MIM:611390 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22448145 "DO", https://www.omim.org/entry/611390 "DO"] synonym: "ARSAL" EXACT [] synonym: "AUTOSOMAL RECESSIVE SPASTIC ATAXIA" EXACT [] synonym: "Autosomal Recessive Spastic Ataxia With Leukoencephalopathy" EXACT [] synonym: "spastic ataxia 3, autosomal recessive" EXACT [] synonym: "SPAX3" EXACT [] xref: MESH:C566956 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0050943 name: spastic ataxia 4 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20970105 "DO", https://www.omim.org/entry/613672 "DO"] synonym: "MTPAP-RELATED CONDITION" EXACT [] synonym: "spastic ataxia 4, autosomal recessive" EXACT [] synonym: "SPAX4" EXACT [] xref: MIM:613672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0050944 name: spastic ataxia 5 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22022284 "DO", https://www.omim.org/entry/614487 "DO"] synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [] synonym: "spastic ataxia 5, autosomal recessive" EXACT [] synonym: "SPAX5" EXACT [] xref: MIM:614487 xref: MONDO:0013776 xref: ORDO:313772 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0050945 name: spastic ataxia 7 alt_id: DOID:9000811 alt_id: MESH:C566247 def: "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6821680 "DO", https://www.omim.org/entry/108650 "DO"] synonym: "spastic ataxia 7, autosomal dominant" EXACT [] synonym: "spastic ataxia with congenital miosis" EXACT [] synonym: "SPAX7" EXACT [] xref: MIM:108650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:9003165 ! Miosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050946 name: Charlevoix-Saguenay spastic ataxia alt_id: MIM:270550 alt_id: RDO:0002476 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO", https://www.omim.org/entry/270550 "DO"] synonym: "ARSACS" EXACT [] synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" EXACT [] synonym: "SACS" EXACT [] synonym: "SACS-RELATED CONDITION" EXACT [] synonym: "Spastic ataxia 6, autosomal recessive" EXACT [] synonym: "Spastic Ataxia Charlevoix-Saguenay Type" EXACT [] synonym: "spastic ataxia of Charlevoix-Saguenay" EXACT [] synonym: "SPAX6" EXACT [] xref: GARD:4910 xref: MESH:C536787 xref: NCI:C154614 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0050947 name: hereditary hypophosphatemic rickets with hypercalciuria alt_id: MIM:241530 def: "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)" [http://www.omim.org/entry/241530?search=241530&highlight=241530 "DO", 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 "DO"] synonym: "HHRH" EXACT [] synonym: "hypercalciuric rickets" EXACT [] synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [] synonym: "SLC34A3-RELATED CONDITION" EXACT [] xref: MESH:C562793 is_a: DOID:0080578 ! digenic disease is_a: DOID:9001738 ! Hypercalciuria is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0050948 name: autosomal dominant hypophosphatemic rickets alt_id: MIM:193100 def: "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)" [http://www.omim.org/entry/193100?search=193100&highlight=193100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "DO"] synonym: "ADHR" EXACT [] synonym: "autosomal dominant hypophosphatemia" EXACT [] synonym: "hypophosphatemic rickets, dominant" EXACT [] synonym: "vitamin D-resistant rickets, autosomal dominant" EXACT [] xref: MESH:C562791 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0050949 name: autosomal recessive hypophosphatemic rickets def: "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)" [http://www.omim.org/entry/241520?search=241520&highlight=241520 "DO", 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 "DO"] synonym: "recessive hypophosphatemic rickets" EXACT [] xref: ORDO:289176 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0050950 name: autosomal recessive cerebellar ataxia def: "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO"] xref: MIM:PS213200 xref: ORDO:1172 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050951 name: hereditary ataxia def: "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)" [http://www.ncbi.nlm.nih.gov/books/NBK1138 "DO"] xref: EFO:0009671 xref: GARD:6614 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9004866 ! Ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050952 name: spastic ataxia def: "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO", https://www.omim.org/entry/270550 "DO"] xref: MESH:C564815 xref: MIM:PS108600 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:5723 ! optic atrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0050953 name: X-linked hereditary ataxia def: "A hereditary ataxia that is characterized by X-linked inheritance. (DO)" [https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ "DO"] is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050951 ! hereditary ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050954 name: spinocerebellar ataxia type 1 def: "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)" [https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 "DO"] synonym: "cerebelloparenchymal disorder I" EXACT [] synonym: "CPD1" EXACT [] synonym: "Menzel type OPCA" EXACT [] synonym: "olivopontocerebellar atrophy I" EXACT [] synonym: "olivopontocerebellar atrophy IV" EXACT [] synonym: "OPCA1" EXACT [] synonym: "OPCA4" EXACT [] synonym: "OPCA I" EXACT [] synonym: "OPCA IV" EXACT [] synonym: "SCA1" EXACT [] synonym: "Schut Haymaker type OPCA" EXACT [] synonym: "spinocerebellar ataxia 1" EXACT [] synonym: "spinocerebellar atrophy I" EXACT [] xref: EFO:0003089 xref: GARD:4071 xref: MIM:164400 xref: MONDO:0008119 xref: NCI:C129982 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050955 name: spinocerebellar ataxia type 2 def: "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)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 "DO"] synonym: "olivopontocerebellar atrophy 2" EXACT [] synonym: "olivopontocerebellar atrophy, Holguin type" EXACT [] synonym: "olivopontocerebellar atrophy II" EXACT [] synonym: "OPCA2" EXACT [] synonym: "SCA2" EXACT [] synonym: "spinocerebellar ataxia 2" EXACT [] synonym: "spinocerebellar ataxia, Cuban type" EXACT [] synonym: "spinocerebellar ataxia with slow eye movements" EXACT [] synonym: "spinocerebellar atrophy 2" EXACT [] synonym: "spinocerebellar atrophy II" EXACT [] synonym: "spinocerebellar degeneration with slow eye movements" EXACT [] xref: MIM:183090 xref: NCI:C148315 xref: ORDO:98756 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:14784 ! olivopontocerebellar atrophy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050956 name: spinocerebellar ataxia type 6 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 "DO"] synonym: "SCA6" EXACT [] synonym: "spinocerebellar ataxia 6" EXACT [] xref: GARD:10351 xref: MIM:183086 xref: MONDO:0008457 xref: NCI:C142838 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050957 name: spinocerebellar ataxia type 4 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 "DO"] synonym: "SCA4" EXACT [] synonym: "spinocerebellar ataxia 4" EXACT [] synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" EXACT [] xref: GARD:9970 xref: MIM:600223 xref: MONDO:0010847 xref: ORDO:98765 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0050958 name: spinocerebellar ataxia type 7 def: "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)" [https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 "DO"] synonym: "ADCA, type II" EXACT [] synonym: "autosomal dominant cerebellar ataxia, type II" EXACT [] synonym: "olivopontocerebellar atrophy III" EXACT [] synonym: "OPCA3" EXACT [] synonym: "OPCA III" EXACT [] synonym: "OPCA with macular degeneration and external ophthalmoplegia" EXACT [] synonym: "OPCA with retinal degeneration" EXACT [] synonym: "SCA7" EXACT [] synonym: "spinocerebellar ataxia 7" EXACT [] xref: EFO:0003090 xref: MIM:164500 xref: MONDO:0008120 xref: NCI:C126562 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0050959 name: spinocerebellar ataxia type 8 alt_id: MIM:608768 def: "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)" [https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8 "DO"] synonym: "SCA8" EXACT [] synonym: "spinocerebellar ataxia 8" EXACT [] xref: MESH:C537307 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050960 name: spinocerebellar ataxia type 10 alt_id: MIM:603516 def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK1175/ "DO"] synonym: "SCA10" EXACT [] synonym: "spinocerebellar ataxia 10" EXACT [] xref: GARD:10474 xref: MESH:C566874 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050961 name: spinocerebellar ataxia type 11 alt_id: MIM:604432 def: "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)" [https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11 "DO"] synonym: "SCA11" EXACT [] synonym: "Spinocerebellar Ataxia 11" EXACT [] synonym: "TTBK2-RELATED CONDITION" EXACT [] xref: MESH:C565772 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050962 name: spinocerebellar ataxia type 12 alt_id: MIM:604326 def: "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)" [https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12 "DO"] synonym: "PPP2R2B-RELATED DISORDER" EXACT [] synonym: "SCA12" EXACT [] synonym: "spinocerebellar ataxia 12" EXACT [] xref: MESH:C565790 xref: NCI:C154316 xref: ORDO:98762 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050963 name: spinocerebellar ataxia type 13 alt_id: MIM:605259 def: "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)" [https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13 "DO"] synonym: "Autosomal dominant cerebellar ataxia with mental retardation" EXACT [] synonym: "SCA13" EXACT [] synonym: "Spinocerebellar Ataxia 13" EXACT [] xref: MESH:C537195 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050964 name: spinocerebellar ataxia type 14 alt_id: MIM:605361 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14 "DO"] synonym: "SCA14" EXACT [] synonym: "Spinocerebellar Ataxia 14" EXACT [] xref: MESH:C537196 xref: RDO:0002985 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050965 name: spinocerebellar ataxia type 15 alt_id: DOID:0050966 alt_id: MIM:606658 def: "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)" [https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 "DO"] synonym: "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA" BROAD [] synonym: "SCA15" EXACT [] synonym: "SCA16" EXACT [] synonym: "spinocerebellar ataxia 15" EXACT [] synonym: "spinocerebellar ataxia 16" EXACT [] synonym: "spinocerebellar ataxia type 15/16" EXACT [] synonym: "spinocerebellar ataxia type 16" EXACT [] xref: MESH:C564685 xref: NCI:C150250 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050967 name: spinocerebellar ataxia type 17 alt_id: DOID:9001531 alt_id: DOID:9002725 alt_id: MESH:C563505 alt_id: MESH:C565866 alt_id: MIM:607136 def: "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)" [https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17 "DO"] synonym: "cerebelloparenchymal disorder II" EXACT [] synonym: "CPD2" EXACT [] synonym: "Cpd, Late-Onset Recessive Type" EXACT [] synonym: "HDL4" EXACT [] synonym: "Huntington's Disease-Like 4" EXACT [] synonym: "Huntington Disease-Like 4" EXACT [] synonym: "Olivopontocerebellar Atrophy V" EXACT [] synonym: "OPCA5" EXACT [] synonym: "OPCA with dementia and extrapyramidal signs" EXACT [] synonym: "SCA17" EXACT [] synonym: "spinocerebellar ataxia 17" EXACT [] xref: EFO:0003091 xref: GARD:10469 xref: MESH:C564616 xref: MONDO:0011781 xref: NCI:C179861 is_a: DOID:0080578 ! digenic disease is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:14784 ! olivopontocerebellar atrophy [Term] id: DOID:0050968 name: autosomal dominant cerebellar ataxia, deafness and narcolepsy alt_id: MIM:604121 def: "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)" [https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy "DO"] synonym: "ADCADN" EXACT [] synonym: "cerebellar ataxia, deafness, and narcolepsy" EXACT [] xref: GARD:12372 xref: MESH:C565825 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:8986 ! narcolepsy [Term] id: DOID:0050969 name: spinocerebellar ataxia type 18 alt_id: MIM:607458 alt_id: RDO:0002986 def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO)" [https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18 "DO"] synonym: "SCA18" EXACT [] synonym: "Sensorimotor Neuropathy with Ataxia, Autosomal Dominant" EXACT [] synonym: "SMNA" EXACT [] synonym: "Spinocerebellar ataxia 18" EXACT [] xref: GARD:9976 xref: MESH:C537197 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050970 name: spinocerebellar ataxia type 19/22 def: "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO)" [https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22 "DO"] synonym: "SCA19" EXACT [] synonym: "SCA22" EXACT [] synonym: "spinocerebellar ataxia 19" EXACT [] synonym: "spinocerebellar ataxia 22" EXACT [] xref: GARD:12365 xref: MESH:C537198 xref: MESH:C542540 xref: MIM:607346 xref: MONDO:0011819 xref: NCI:C163756 xref: ORDO:98772 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050971 name: spinocerebellar ataxia type 20 alt_id: MIM:608687 def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO)" [https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20 "DO"] synonym: "CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB" EXACT [] synonym: "SCA20" EXACT [] synonym: "spinocerebellar ataxia 20" EXACT [] synonym: "Spinocerebellar Ataxia With Dysphonia" EXACT [] synonym: "Spinocerebellar Ataxia With Spasmodic Cough" EXACT [] xref: GARD:9997 xref: MESH:C537199 xref: RDO:0002988 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050972 name: spinocerebellar ataxia type 21 alt_id: MIM:607454 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO)" [https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21 "DO"] synonym: "SCA21" EXACT [] synonym: "Spinocerebellar Ataxia 21" EXACT [] xref: GARD:9999 xref: MESH:C537200 xref: RDO:0002989 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050973 name: spinocerebellar ataxia type 23 alt_id: MIM:610245 alt_id: RDO:0002990 def: "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)" [https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23 "DO"] synonym: "SCA23" EXACT [] synonym: "spinocerebellar ataxia 23" EXACT [] xref: MESH:C537201 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050974 name: spinocerebellar ataxia type 25 alt_id: MIM:608703 def: "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)" [https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25 "DO"] synonym: "SCA25" EXACT [] synonym: "spinocerebellar ataxia 25" EXACT [] xref: GARD:9996 xref: MESH:C537202 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050975 name: spinocerebellar ataxia type 26 alt_id: MIM:609306 def: "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)" [https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26 "DO"] synonym: "SCA26" EXACT [] synonym: "spinocerebellar ataxia 26" EXACT [] xref: GARD:9995 xref: MESH:C537203 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050976 name: spinocerebellar ataxia type 27 alt_id: DOID:0111794 alt_id: MESH:C537856 def: "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)" [https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27 "DO"] synonym: "autosomal dominant cerebellar ataxia, FGF14-related" EXACT [] synonym: "congenital nystagmus 4" EXACT [] synonym: "congenital nystagmus 4, autosomal dominant" EXACT [] synonym: "NYS4" EXACT [] synonym: "SCA27" EXACT [] synonym: "spinocerebellar ataxia 27" EXACT [] synonym: "vestibulocerebellar disorder with predominant ocular signs" EXACT [] xref: GARD:9603 xref: MESH:C537204 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0050977 name: spinocerebellar ataxia type 28 alt_id: MIM:610246 def: "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)" [https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 "DO"] synonym: "SCA28" EXACT [] synonym: "spinocerebellar ataxia 28" EXACT [] xref: MESH:C537205 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050978 name: spinocerebellar ataxia type 29 alt_id: MIM:117360 def: "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)" [https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 "DO"] synonym: "ACV" EXACT [] synonym: "aplasia of cerebellar vermis" EXACT [] synonym: "CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT" EXACT [] synonym: "cerebellar ataxia, early-onset, nonprogressive" EXACT [] synonym: "cerebellar vermis aplasia" EXACT [] synonym: "CNPCA" EXACT [] synonym: "ITPR1-related syndromic and non-syndromic hereditary ataxia" BROAD [] synonym: "SCA29" EXACT [] synonym: "spinocerebellar ataxia 29" EXACT [] synonym: "Spinocerebellar ataxia 29, congenital nonprogressive" EXACT [] xref: MESH:C537206 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050979 name: spinocerebellar ataxia type 30 alt_id: MIM:613371 def: "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)" [https://www.omim.org/entry/613371 "DO"] synonym: "SCA30" EXACT [] synonym: "Spinocerebellar Ataxia 30" EXACT [] xref: GARD:4950 xref: MESH:C575214 xref: RDO:0015780 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050980 name: spinocerebellar ataxia type 31 def: "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)" [https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31 "DO"] synonym: "SCA31" EXACT [] synonym: "spinocerebellar ataxia, 16q22-linked" EXACT [] synonym: "spinocerebellar ataxia 31" EXACT [] xref: MESH:C566146 xref: MIM:117210 xref: MONDO:0007296 xref: NCI:C176901 xref: ORDO:217012 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050981 name: spinocerebellar ataxia type 34 alt_id: DOID:9005475 alt_id: MIM:133190 def: "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)" [https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34 "DO"] synonym: "erythrokeratodermia - ataxia" EXACT [] synonym: "erythrokeratodermia with ataxia" EXACT [] synonym: "Giroux Barbeau syndrome" EXACT [] xref: MESH:C535738 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050982 name: spinocerebellar ataxia type 35 def: "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)" [https://www.omim.org/entry/613908 "DO"] synonym: "SCA35" EXACT [] synonym: "spinocerebellar ataxia 35" EXACT [] xref: MIM:613908 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050983 name: spinocerebellar ataxia type 36 def: "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)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 "DO"] synonym: "SCA36" EXACT [] synonym: "spinocerebellar ataxia 36" EXACT [] xref: MIM:614153 xref: NCI:C148316 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050984 name: spinocerebellar ataxia type 37 def: "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)" [https://www.omim.org/entry/615945 "DO"] synonym: "SCA37" EXACT [] synonym: "spinocerebellar ataxia 37" EXACT [] xref: MIM:615945 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:0050985 name: spinocerebellar ataxia type 38 def: "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)" [https://www.omim.org/entry/615957 "DO"] synonym: "SCA38" EXACT [] synonym: "spinocerebellar ataxia 38" EXACT [] xref: EFO:0009056 xref: MIM:615957 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:0050986 name: spinocerebellar ataxia type 40 def: "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)" [https://www.omim.org/entry/616053 "DO"] synonym: "CCDC88C-RELATED CONDITION" BROAD [] synonym: "SCA40" EXACT [] synonym: "spinocerebellar ataxia 40" EXACT [] xref: EFO:0009057 xref: MIM:616053 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:0050987 name: hypomyelinating leukoencephalopathy def: "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232354 "DO"] is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0050988 name: GRID2-related spinocerebellar ataxia def: "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO)" [https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ "DO"] is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050989 name: episodic ataxia type 1 alt_id: MIM:160120 def: "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)" [https://www.omim.org/entry/160120 "DO"] synonym: "AEM" EXACT [] synonym: "AEMK" EXACT [] synonym: "EA1" EXACT [] synonym: "EAM" EXACT [] synonym: "episodic ataxia with myokymia" EXACT [] synonym: "hereditary continuous muscle fiber activity" NARROW [] synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT [] synonym: "ISAACS-MERTENS SYNDROME" NARROW [] synonym: "MYOKYMIA 1 WITH HYPOMAGNESEMIA" NARROW [] synonym: "MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA" NARROW [] synonym: "myokymia with periodic ataxia" EXACT [] synonym: "myokymia with periodic ataxia 1" NARROW [] xref: MESH:C563278 is_a: DOID:9003935 ! Myokymia is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050990 name: episodic ataxia type 2 alt_id: MIM:108500 def: "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)" [https://www.omim.org/entry/108500 "DO"] synonym: "acetazolamide-responsive episodic ataxia syndrome" EXACT [] synonym: "Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia" EXACT [] synonym: "APCA" EXACT [] synonym: "Ataxia, Familial Paroxysmal" EXACT [] synonym: "CAPA" EXACT [] synonym: "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive" EXACT [] synonym: "Cerebellopathy, hereditary paroxysmal" EXACT [] synonym: "EA2" EXACT [] synonym: "EPISODIC ATAXIA, TYPE 2, AND EPILEPSY" NARROW [] synonym: "Episodic ataxia with nystagmus" EXACT [] synonym: "nystagmus-associated episodic ataxia" EXACT [] xref: MESH:C535506 xref: NCI:C202603 is_a: DOID:963 ! episodic ataxia is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:0050991 name: episodic ataxia type 3 alt_id: MIM:606554 alt_id: RDO:0013568 def: "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/606554 "DO"] synonym: "EA3" EXACT [] synonym: "episodic ataxia with vertigo and tinnitus" EXACT [] xref: MESH:C564697 is_a: DOID:9001733 ! Tinnitus is_a: DOID:963 ! episodic ataxia is_a: DOID:9847 ! peripheral vertigo [Term] id: DOID:0050992 name: episodic ataxia type 4 alt_id: MIM:606552 def: "An episodic ataxia that is characterized by vertigo and diplopia. (DO)" [https://www.omim.org/entry/606552 "DO"] synonym: "Periodic Vestibulocerebellar Ataxia" EXACT [] xref: MESH:C564698 is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050993 name: episodic ataxia type 5 alt_id: MIM:613855 def: "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)" [https://www.omim.org/entry/613855 "DO"] synonym: "EA5" EXACT [] xref: MESH:C566601 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050994 name: episodic ataxia type 6 alt_id: MIM:612656 def: "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)" [https://www.omim.org/entry/612656 "DO"] synonym: "EA6" EXACT [] xref: MESH:C567207 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050995 name: episodic ataxia type 7 alt_id: MIM:611907 def: "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/611907 "DO"] synonym: "EA7" EXACT [] xref: MESH:C567459 is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050996 name: episodic ataxia type 8 def: "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)" [https://www.omim.org/entry/616055 "DO"] xref: MIM:616055 is_a: DOID:963 ! episodic ataxia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050997 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome def: "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO", https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia "DO", https://pubmed.ncbi.nlm.nih.gov/28013290/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1874/ "DO"] synonym: "autosomal recessive cerebellar ataxia with mental retardation" EXACT [] synonym: "autosomal recessive cerebellar hypoplasia with cerebral gyral simplification" EXACT [] synonym: "CAMRQ" EXACT [] synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT [] synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion" EXACT [] synonym: "congenital cerebellar ataxia and mental retardation, autosomal recessive" EXACT [] synonym: "DES" EXACT [] synonym: "dysequilibrium syndrome" EXACT [] synonym: "nonprogressive cerebellar disorder with mental retardation" EXACT [] synonym: "Uner Tan syndrome" EXACT [] xref: GARD:1998 xref: MESH:C535731 xref: MIM:PS224050 xref: MONDO:0009133 xref: OMIA:001947 xref: ORDO:1766 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome [Term] id: DOID:0050998 name: nonprogressive cerebellar ataxia with mental retardation def: "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)" [https://www.omim.org/entry/614756 "DO", MIM:614756] synonym: "CAMTA1-RELATED CONDITION" EXACT [] synonym: "CANPMR" EXACT [] synonym: "CECBA" EXACT [] synonym: "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES" EXACT [] synonym: "NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY" EXACT [] xref: MIM:614756 is_a: DOID:1059 ! intellectual disability is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050999 name: autosomal recessive spinocerebellar ataxia 10 def: "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)" [https://www.omim.org/entry/613728 "DO"] synonym: "SCAR10" EXACT [] synonym: "Spinocerebellar ataxia, autosomal recessive 10" EXACT [] xref: MIM:613728 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0060000 name: infective endocarditis def: "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO)" [http://en.wikipedia.org/wiki/Endocarditis "DO", http://en.wikipedia.org/wiki/Infective_endocarditis "DO"] synonym: "infective endocarditides" EXACT [] xref: GARD:6337 is_a: DOID:10314 ! endocarditis is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060001 name: withdrawal disorder def: "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)" [http://en.wikipedia.org/wiki/Withdrawal "DO"] synonym: "alcohol withdrawal" NARROW [] synonym: "Drug Withdrawal Symptom" EXACT [] synonym: "drug withdrawal symptoms" EXACT [] synonym: "Substance Withdrawal Syndrome" EXACT [] synonym: "Substance Withdrawal Syndromes" EXACT [] synonym: "Withdrawal Symptom" EXACT [] synonym: "withdrawal symptoms" EXACT [] xref: EFO:0004777 xref: EFO:0005800 xref: MESH:D013375 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:0060002 name: C1 inhibitor deficiency def: "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)" [http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease "DO"] synonym: "C1 esterase inhibitor deficiency" EXACT [] synonym: "deficiency of C1 esterase inhibitor" EXACT [] synonym: "Quincke edema" EXACT [] is_a: DOID:626 ! complement deficiency created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060004 name: autoimmune disease of central nervous system def: "An autoimmune hypersensitivity disease located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] xref: EFO:0020092 is_a: DOID:331 ! central nervous system disease is_a: DOID:438 ! autoimmune disease of the nervous system created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060005 name: autoimmune disease of endocrine system def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:28 ! endocrine system disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060007 name: CD3zeta deficiency def: "A severe combined immunodeficiency that affects the development and function of T cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"] is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060008 name: janus kinase-3 deficiency def: "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)" [https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance "DO"] xref: EFO:0005565 xref: RDO:9002904 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060009 name: MHC class I deficiency alt_id: MIM:604571 def: "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)" [https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25001848 "DO"] synonym: "BARE LYMPHOCYTE SYNDROME TYPE 1" EXACT [] synonym: "Bare Lymphocyte Syndrome, Type I" EXACT [] synonym: "BLSI" EXACT [] synonym: "BLS, Type I" EXACT [] synonym: "HLA Class I Deficiency" EXACT [] xref: MESH:C565759 xref: NCI:C171267 xref: RDO:0014312 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060010 name: Omenn syndrome alt_id: MIM:603554 def: "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)" [https://en.wikipedia.org/wiki/Omenn_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/11213808 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14328107 "DO"] synonym: "combined immunodeficiency with hypereosinophilia" EXACT [] synonym: "familial reticuloendotheliosis, with eosinophilia" EXACT [] synonym: "Omenn's syndrome" EXACT [] synonym: "Omenns syndrome" EXACT [] synonym: "severe combined immunodeficiency with hypereosinophilia" EXACT [] xref: GARD:8198 xref: ICD10CM:D81.8 xref: MESH:C538564 xref: NCI:C61240 is_a: DOID:225 ! syndrome is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:0060011 name: recombinase activating gene 1 deficiency def: "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)" [http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html "DO"] xref: MONDO:0000572 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060012 name: recombinase activating gene 2 deficiency def: "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)" [http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html "DO"] synonym: "RAG2 DEFICIENCY" EXACT [] xref: EFO:0009651 xref: RDO:9002906 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060013 name: X-linked severe combined immunodeficiency def: "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)" [http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO", https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms "DO"] synonym: "gamma chain deficiency" EXACT [] synonym: "IMD4" EXACT [] synonym: "Immunodeficiency 4" EXACT [] synonym: "SCIDX" EXACT [] synonym: "SCID-X1" EXACT [] synonym: "SCIDX1" EXACT [] synonym: "thymic epithelial hypoplasia" EXACT [] synonym: "X-linked SCID" EXACT [] synonym: "X-linked severe combined immunodeficiency disease" EXACT [] synonym: "X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative" EXACT [] synonym: "X-SCID" EXACT [] synonym: "XSCID" EXACT [] xref: EFO:0005555 xref: EFO:1001451 xref: GARD:5618 xref: MIM:300400 xref: NCI:C4682 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060014 name: CD45 deficiency def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/29366662 "DO"] is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060015 name: interleukin-7 receptor alpha deficiency def: "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15661025 "DO"] synonym: "IL-7R" EXACT [] xref: RDO:9002909 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060016 name: CD3delta deficiency def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/15640687 "DO"] synonym: "CD3D" EXACT [] is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060017 name: CD3epsilon deficiency def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060018 name: CD3gamma deficiency def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060019 name: coronin-1A deficiency def: "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)" [http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed "DO"] synonym: "IMD8" EXACT [] synonym: "immunodeficiency 8" EXACT [] synonym: "immunodeficiency-8 with lymphoproliferation" EXACT [] synonym: "T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS" RELATED [] xref: MIM:615401 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060020 name: reticular dysgenesis alt_id: MIM:242880 alt_id: MIM:267500 def: "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)" [http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO", http://www.ncbi.nlm.nih.gov/gene/204? "DO"] synonym: "aleukocytosis" EXACT [] synonym: "congenital aleukia" EXACT [] synonym: "De Vaal Disease" EXACT [] synonym: "DeVaal disease" EXACT [] synonym: "Hematopoietic Hypoplasia, Generalized" EXACT [] synonym: "Immunoerythromyeloid Hypoplasia" EXACT [] synonym: "reticular dysgenesia" EXACT [] synonym: "severe combined immunodeficiency with leukopenia" EXACT [] xref: GARD:8625 xref: MESH:C538361 xref: NCI:C27070 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:615 ! leukopenia is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060021 name: DNA ligase IV deficiency alt_id: MIM:606593 def: "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)" [http://omim.org/entry/606593 "DO", http://www.ncbi.nlm.nih.gov/gene/3981 "DO"] synonym: "DNA Ligase IV Syndrome" EXACT [] synonym: "LIG4-related disorder" EXACT [] synonym: "LIG4-related disorders" EXACT [] synonym: "LIG4 Syndrome" EXACT [] synonym: "PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS" NARROW [] xref: MESH:C564694 xref: NCI:C122657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060022 name: CD40 ligand deficiency alt_id: MIM:308230 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/30681380 "DO"] synonym: "HIGM1" EXACT [] synonym: "HIGM1 syndrome" EXACT [] synonym: "HIGM1 syndromes" EXACT [] synonym: "HIGMX-1" EXACT [] synonym: "hyper-IgM immunodeficiency syndrome, type 1" EXACT [] synonym: "Hyper IgM Syndrome 1" EXACT [] synonym: "IHIS" EXACT [] synonym: "IMD3" EXACT [] synonym: "IMMUNODEFICIENCY 3" EXACT [] synonym: "Immunodeficiency with Hyper IgM, Type 1" EXACT [] synonym: "IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM" EXACT [] synonym: "XHIGM" EXACT [] synonym: "XHIM" EXACT [] synonym: "X-linked hyper-IgM immunodeficiencies" EXACT [] synonym: "X-linked hyper-IgM immunodeficiency" EXACT [] synonym: "X-linked hyper-IgM syndrome" EXACT [] synonym: "X-linked hyper-immunoglobulin M (IgM) syndrome" EXACT [] xref: MESH:D053307 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2959 ! hyperimmunoglobulin syndrome is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0060023 name: immunodeficiency with hyper IgM type 3 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11675497 "DO"] synonym: "CD40 deficiency" EXACT [] synonym: "CD40-RELATED CONDITION" EXACT [] synonym: "HIGM3" EXACT [] synonym: "HIGM3 syndrome" EXACT [] synonym: "Hyper IgM Immunodeficiency Syndrome Type 3" EXACT [] synonym: "hyper IgM syndrome 3" EXACT [] synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [] synonym: "type 3 hyper-IgM immunodeficiency" EXACT [] xref: GARD:10579 xref: MIM:606843 xref: NCI:C176416 xref: ORDO:101090 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060024 name: lambda 5 deficiency def: "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)" [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 "DO", http://www.ncbi.nlm.nih.gov/gene/3543? "DO"] is_a: DOID:0050177 ! monogenic disease is_a: DOID:2115 ! B cell deficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060025 name: immunoglobulin alpha deficiency def: "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO)" [http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO", http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 "DO", http://www.ncbi.nlm.nih.gov/gene/973? "DO"] synonym: "gamma-A-globulin deficiency" EXACT [] synonym: "IgA deficiencies" EXACT [] synonym: "IgA deficiency" EXACT [] xref: EFO:1001929 xref: GARD:10197 xref: MESH:D017098 xref: ORDO:69127 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11702 ! dysgammaglobulinemia is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0060026 name: immunoglobulin beta deficiency def: "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)" [https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO"] synonym: "CD79B Deficiency" EXACT [] synonym: "IgB Deficiency" EXACT [] synonym: "Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells" EXACT [] xref: MESH:C567200 xref: RDO:0015341 is_a: DOID:2115 ! B cell deficiency is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0060027 name: agammaglobulinemia 4 alt_id: RDO:0009901 def: "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10583958 "DO"] synonym: "AGM4" EXACT [] synonym: "autosomal recessive agammaglobulinemia 4" EXACT [] synonym: "autosomal recessive agammaglobulinemia due to BLNK defect" EXACT [] synonym: "B cell linker protein deficiency" EXACT [] synonym: "BLNK deficiency" EXACT [] xref: MIM:613502 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0060028 name: Good syndrome def: "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)" [http://en.wikipedia.org/wiki/Good_syndrome "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102047/ "DO"] synonym: "thymoma with hypogammaglobulinemia" EXACT [] is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:3275 ! thymoma is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0060029 name: autoimmune disease of exocrine system def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060030 name: autoimmune disease of eyes, ear, nose and throat def: "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:0050155 ! sensory system disease is_a: DOID:438 ! autoimmune disease of the nervous system created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060031 name: autoimmune disease of gastrointestinal tract def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] synonym: "IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY" NARROW [] is_a: DOID:417 ! autoimmune disease is_a: DOID:77 ! gastrointestinal system disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060032 name: autoimmune disease of musculoskeletal system def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060033 name: autoimmune disease of peripheral nervous system def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] xref: RDO:9002712 is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:574 ! peripheral nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060034 name: dropped head syndrome alt_id: DOID:9009019 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/23203936/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751 "DO"] synonym: "Dropped Head Syndromes" EXACT [] synonym: "floppy head syndrome" EXACT [] xref: EFO:1001987 is_a: DOID:0060564 ! spinal disease is_a: DOID:225 ! syndrome is_a: DOID:9004757 ! Axial Myopathy, Late-Onset created_by: mtutaj creation_date: 2022-11-30T18:56:52Z [Term] id: DOID:0060036 name: intrinsic cardiomyopathy def: "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO)" [https://en.wikipedia.org/wiki/Cardiomyopathy "DO"] is_a: DOID:0050700 ! cardiomyopathy created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:0060037 name: developmental disorder of mental health def: "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)" [http://en.wikipedia.org/wiki/Developmental_disorders "DO"] xref: EFO:0005548 xref: RDO:9003240 is_a: DOID:150 ! disease of mental health created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060038 name: specific developmental disorder def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO)" [http://en.wikipedia.org/wiki/Specific_developmental_disorder "DO"] is_a: DOID:0060037 ! developmental disorder of mental health [Term] id: DOID:0060039 name: autoimmune disease of skin and connective tissue def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060040 name: pervasive developmental disorder alt_id: DOID:9000537 def: "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)" [https://www.ninds.nih.gov/Disorders/All-Disorders/Pervasive-Developmental-Disorders-Information-Page "DO"] synonym: "pervasive child development disorders" EXACT [] synonym: "pervasive development disorder" EXACT [] synonym: "pervasive development disorders" EXACT [] xref: ICD9CM:299.80 xref: MESH:D002659 xref: NCI:C97179 is_a: DOID:0060037 ! developmental disorder of mental health is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060041 name: autism spectrum disorder def: "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)" [http://en.wikipedia.org/wiki/Autism_spectrum_disorder "DO", http://www.neurodevnet.ca "DO", https://www.genome.gov/Genetic-Disorders/Autism "DO"] synonym: "ASD" EXACT [] synonym: "Autism Spectrum Disorders" EXACT [] synonym: "AUTISM, SUSCEPTIBLITY TO" RELATED [] synonym: "Autistic spectrum disorder with isolated skills" NARROW [] synonym: "familial autism spectrum disorder" NARROW [] synonym: "NRXN2-RELATED AUTISM SPECTRUM DISORDER" NARROW [] xref: EFO:0003756 xref: GARD:10248 xref: MESH:D000067877 xref: NCI:C88412 is_a: DOID:0060040 ! pervasive developmental disorder [Term] id: DOID:0060042 name: atypical autism def: "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)" [http://counsellingresource.com/distress/autistic/autism-atypical.html "DO", https://kidsbrainhealth.ca "DO", https://www.thehealthboard.com/what-is-atypical-autism.htm "DO"] synonym: "PDD" EXACT [] synonym: "pervasive developmental disorder" EXACT [] xref: EFO:0003759 xref: MONDO:0016052 is_a: DOID:0060041 ! autism spectrum disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060043 name: sexual health disorder def: "A disease of mental health that involves the impairment in normal sexual functioning. (DO)" [https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction "DO"] synonym: "Frigidity" EXACT [] synonym: "Orgasmic Disorder" EXACT [] synonym: "orgasmic disorders" EXACT [] synonym: "Sexual Arousal Disorder" EXACT [] synonym: "Sexual Arousal Disorders" EXACT [] synonym: "Sexual Aversion Disorder" EXACT [] synonym: "sexual aversion disorders" EXACT [] synonym: "sexual disorder" EXACT [] xref: MESH:D020018 is_a: DOID:150 ! disease of mental health [Term] id: DOID:0060044 name: paraphilia disorder def: "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO)" [https://en.wikipedia.org/wiki/Paraphilia "DO"] synonym: "Paraphilia" EXACT [] synonym: "paraphilias" EXACT [] synonym: "Paraphilic Disorder" EXACT [] synonym: "Paraphilic Disorders" EXACT [] synonym: "Sex Deviation" EXACT [] synonym: "sex deviations" EXACT [] xref: MESH:D010262 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:0060045 name: Munchausen by proxy def: "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)" [http://en.wikipedia.org/wiki/Munchausen_by_proxy "DO"] synonym: "Munchausen syndrome by proxy" EXACT [] xref: MESH:D016735 is_a: DOID:1766 ! factitious disorder [Term] id: DOID:0060046 name: aphasia def: "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO)" [http://en.wikipedia.org/wiki/Aphasia "DO"] synonym: "Acquired Aphasia" EXACT [] synonym: "Ageusic Aphasia" EXACT [] synonym: "ageusic aphasias" EXACT [] synonym: "Alogia" EXACT [] synonym: "alogias" EXACT [] synonym: "Anepia" EXACT [] synonym: "anepias" EXACT [] synonym: "Auditory Discriminatory Aphasia" EXACT [] synonym: "auditory discriminatory aphasias" EXACT [] synonym: "Commisural Aphasia" EXACT [] synonym: "commisural aphasias" EXACT [] synonym: "Dejerine Lichtheim Phenomenon" EXACT [] synonym: "Dysphasia" EXACT [] synonym: "Functional Aphasia" EXACT [] synonym: "Functional Aphasias" EXACT [] synonym: "Global Aphasia" EXACT [] synonym: "Global Aphasias" EXACT [] synonym: "Global Dysphasia" EXACT [] synonym: "Global Dysphasias" EXACT [] synonym: "Graphomotor Aphasia" EXACT [] synonym: "Graphomotor Aphasias" EXACT [] synonym: "Intellectual Aphasia" EXACT [] synonym: "Intellectual Aphasias" EXACT [] synonym: "Lichtheim's Sign" EXACT [] synonym: "Lichtheim Sign" EXACT [] synonym: "Lichtheims Sign" EXACT [] synonym: "Logagnosia" EXACT [] synonym: "Logagnosias" EXACT [] synonym: "Logamnesia" EXACT [] synonym: "Logamnesias" EXACT [] synonym: "Logasthenia" EXACT [] synonym: "Logasthenias" EXACT [] synonym: "Mixed Aphasia" EXACT [] synonym: "Mixed Aphasias" EXACT [] synonym: "Post-Ictal Aphasia" EXACT [] synonym: "Post-Ictal Aphasias" EXACT [] synonym: "Post-Traumatic Aphasia" EXACT [] synonym: "Post-Traumatic Aphasias" EXACT [] synonym: "Progressive Aphasia" EXACT [] synonym: "progressive aphasias" EXACT [] synonym: "semantic aphasia" EXACT [] synonym: "semantic aphasias" EXACT [] synonym: "syntactical aphasia" EXACT [] synonym: "syntactical aphasias" EXACT [] xref: MESH:D001037 xref: MONDO:0000598 is_a: DOID:93 ! language disorder [Term] id: DOID:0060047 name: writing disorder def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO)" [http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities "DO"] is_a: DOID:8927 ! learning disability created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060048 name: nosophobia def: "A specific phobia that involves an irrational fear of contracting a disease. (DO)" [http://en.wikipedia.org/wiki/Nosophobia "DO"] xref: EFO:1001903 is_a: DOID:599 ! specific phobia [Term] id: DOID:0060049 name: autoimmune disease of urogenital tract def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060050 name: autoimmune disease of blood def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060051 name: autoimmune disease of cardiovascular system def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] synonym: "autoimmune disorder of cardiovascular system" EXACT [] xref: MONDO:0000603 is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060054 name: autonomic peripheral neuropathy def: "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO)" [https://en.wikipedia.org/wiki/Autonomic_neuropathy "DO"] is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060055 name: popliteal pterygium syndrome alt_id: MIM:119500 def: "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)" [http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome "DO", https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2352260 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4384166 "DO"] synonym: "cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies" EXACT [] synonym: "facio-genito-popliteal syndrome" EXACT [] synonym: "faciogenitopopliteal syndrome" EXACT [] synonym: "popliteal web syndrome" EXACT [] synonym: "PPS" EXACT [] xref: GARD:3242 xref: MESH:C562509 xref: NCI:C118786 xref: ORDO:1300 xref: ORDO:294963 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:674 ! cleft palate is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060056 name: hypersensitivity reaction disease def: "An immune system disease that has_material_basis_in abnormal immune responses. (DO)" [http://en.wikipedia.org/wiki/Hypersensitivity "DO", http://www.ncbi.nlm.nih.gov/books/NBK27136/ "DO"] xref: EFO:1002003 is_a: DOID:2914 ! immune system disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060057 name: gluten allergy def: "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)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy "DO"] synonym: "allergy to gluten" EXACT [] synonym: "gluten allergic reaction" EXACT [] is_a: DOID:3044 ! food allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060058 name: lymphoma def: "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO)" [http://en.wikipedia.org/wiki/Lymphoma "DO", http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 "DO", http://www.nlm.nih.gov/medlineplus/lymphoma.html "DO"] synonym: "germinoblastic sarcoma" EXACT [] synonym: "germinoblastic sarcomas" EXACT [] synonym: "germinoblastoma" EXACT [] synonym: "germinoblastomas" EXACT [] synonym: "lymphoid cancer" EXACT [] synonym: "lymphomas" EXACT [] synonym: "lymphoma, somatic" NARROW [] synonym: "malignant lymphoma" EXACT [] synonym: "malignant lymphomas" EXACT [] synonym: "reticulolymphosarcoma" EXACT [] synonym: "reticulolymphosarcomas" EXACT [] xref: EFO:0000574 xref: ICD10CM:C85.9 xref: ICDO:9590/3 xref: MESH:D008223 xref: MONDO:0005062 xref: NCI:C128121 xref: NCI:C134786 xref: NCI:C21602 xref: NCI:C3208 xref: NCI:C60448 xref: NCI:C7065 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2531 ! hematologic cancer is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:0060060 name: non-Hodgkin lymphoma alt_id: MIM:605027 def: "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO)" [http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=45148 "DO"] synonym: "diffuse lymphoma" EXACT [] synonym: "diffuse lymphomas" EXACT [] synonym: "diffuse mixed cell lymphoma" EXACT [] synonym: "diffuse mixed-cell lymphomas" EXACT [] synonym: "Diffuse Mixed Small and Large Cell Lymphoma" EXACT [] synonym: "Diffuse Small Cleaved Cell Lymphoma" EXACT [] synonym: "Diffuse Undifferentiated Lymphoma" EXACT [] synonym: "diffuse undifferentiated lymphomas" EXACT [] synonym: "High-Grade Lymphoma" EXACT [] synonym: "high-grade lymphomas" EXACT [] synonym: "Intermediate-Grade Lymphoma" EXACT [] synonym: "intermediate-grade lymphomas" EXACT [] synonym: "Low-Grade Lymphoma" EXACT [] synonym: "low-grade lymphomas" EXACT [] synonym: "Lymphatic Sarcoma" EXACT [] synonym: "lymphatic sarcomas" EXACT [] synonym: "Lymphoma, Atypical Diffuse Small Lymphoid" EXACT [] synonym: "Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic" EXACT [] synonym: "Lymphoma, Nonhodgkin" EXACT [] synonym: "Lymphoma, Non-Hodgkin, Familial" EXACT [] synonym: "Lymphoma, Non-Hodgkin, Susceptibility To" RELATED [] synonym: "Lymphoma, Small and Large Cleaved-Cell, Diffuse" EXACT [] synonym: "Lymphosarcoma" EXACT [] synonym: "lymphosarcomas" EXACT [] synonym: "Mixed Cell Lymphoma" EXACT [] synonym: "mixed-cell lymphomas" EXACT [] synonym: "Mixed Lymphocytic-Histiocytic Lymphoma" EXACT [] synonym: "mixed lymphocytic-histiocytic lymphomas" EXACT [] synonym: "Mixed Lymphoma" EXACT [] synonym: "mixed lymphomas" EXACT [] synonym: "NHL" EXACT [] synonym: "non-Hodgkin's lymphoma" EXACT [] synonym: "non-Hodgkin malignant lymphoma" EXACT [] synonym: "non-Hodgkins lymphoma" EXACT [] synonym: "pleomorphic lymphoma" EXACT [] synonym: "pleomorphic lymphomas" EXACT [] synonym: "small non cleaved cell lymphoma" EXACT [] synonym: "small noncleaved cell lymphoma" EXACT [] synonym: "small non-cleaved-cell lymphomas" EXACT [] synonym: "small noncleaved-cell lymphomas" EXACT [] synonym: "undifferentiated lymphoma" EXACT [] synonym: "undifferentiated lymphomas" EXACT [] xref: EFO:0005952 xref: ICDO:9591/3 xref: MESH:D008228 xref: NCI:C179055 xref: NCI:C3211 xref: ORDO:547 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:0060061 name: primary cutaneous T-cell non-Hodgkin lymphoma def: "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO)" [http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma "DO"] synonym: "cutaneous T-cell lymphoma" EXACT [] synonym: "cutaneous T-cell lymphomas" EXACT [] synonym: "granulomatous slack skin" EXACT [] xref: EFO:0002913 xref: GARD:6226 xref: MESH:D016410 xref: MONDO:0000607 xref: NCI:C186279 xref: NCI:C3467 is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0060062 name: familial juvenile hyperuricemic nephropathy def: "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21060763 "DO"] synonym: "ADTKD" EXACT [] synonym: "autosomal dominant tubulointerstitial kidney disease" EXACT [] synonym: "FJHN" EXACT [] synonym: "GCKD" EXACT [] synonym: "glomerulocystic kidney disease" EXACT [] synonym: "hereditary interstitial kidney disease" EXACT [] synonym: "HNFJ" EXACT [] synonym: "MCKD" EXACT [] synonym: "medullary cystic kidney disease" EXACT [] synonym: "tubulointerstitial nephritis" EXACT [] xref: MIM:PS162000 xref: ORDO:209886 xref: ORDO:217330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1920 ! hyperuricemia is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0060063 name: sideroblastic anemia 1 alt_id: MIM:300751 def: "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)" [https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia "DO"] synonym: "ALAS2-RELATED CONDITION" BROAD [] synonym: "ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY" NARROW [] synonym: "ANH1" EXACT [] synonym: "congenital sideroblastic anaemia" EXACT [] synonym: "Erythroid 5-Aminolevulinate Synthase Deficiency" EXACT [] synonym: "Hereditary Iron-Loading Anemia" EXACT [] synonym: "hereditary sideroblastic anemia" EXACT [] synonym: "sex-linked hypochromic sideroblastic anemia" EXACT [] synonym: "SIDBA1" EXACT [] synonym: "sideroblastic anaemia 1" EXACT [] synonym: "sideroblastic anaemia 1, late-onset" NARROW [] synonym: "X chromosome-linked sideroblastic anemia" EXACT [] synonym: "X-linked pyridoxine-responsive sideroblastic anemia" EXACT [] synonym: "X-linked sideroblastic anaemia" EXACT [] synonym: "X-linked sideroblastic anemia" EXACT [] synonym: "XLSA" EXACT [] xref: GARD:9456 xref: MESH:C536761 is_a: DOID:0050642 ! hypochromic microcytic anemia is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060065 name: autosomal recessive pyridoxine-refractory sideroblastic anemia 2 def: "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)" [https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive "DO"] synonym: "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2" EXACT [] synonym: "pyridoxine-refractory autosomal recessive sideroblastic anaemia" EXACT [] synonym: "pyridoxine-refractory autosomal recessive sideroblastic anemia" EXACT [] synonym: "pyridoxine-refractory sideroblastic anemia 2" EXACT [] synonym: "SIDBA2" EXACT [] xref: MESH:C567145 xref: MIM:205950 xref: MONDO:0008785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060066 name: pyridoxine-responsive sideroblastic anemia alt_id: MIM:206000 def: "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)" [https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive "DO"] synonym: "Anemia, Congenital Sideroblastic, B6-Responsive" EXACT [] synonym: "pyridoxine-responsive sideroblastic anemia, autosomal recessive" EXACT [] xref: MESH:C565954 is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060067 name: Pearson syndrome def: "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)" [http://en.wikipedia.org/wiki/Pearson_syndrome "DO"] synonym: "Pearson marrow-pancreas syndrome" EXACT [] synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" EXACT [] xref: GARD:7343 xref: MIM:557000 xref: NCI:C115326 is_a: DOID:225 ! syndrome is_a: DOID:700 ! mitochondrial metabolism disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060068 name: nonbacterial thrombotic endocarditis def: "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO)" [http://en.wikipedia.org/wiki/Marantic_endocarditis "DO"] synonym: "marantic endocarditides" EXACT [] synonym: "marantic endocarditis" EXACT [] synonym: "non-bacterial thrombotic endocarditis" EXACT [] synonym: "non-infective endocarditides" EXACT [] synonym: "non-infective endocarditis" EXACT [] xref: MESH:D059905 is_a: DOID:10314 ! endocarditis [Term] id: DOID:0060071 name: pre-malignant neoplasm def: "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)" [http://en.wikipedia.org/wiki/Neoplasm "DO"] synonym: "Clonal Hematopoiesis" NARROW [] synonym: "cutaneous precancerous condition" NARROW [] synonym: "Gallbladder Biliary Intraepithelial Neoplasia" NARROW [] synonym: "Pancreatic Precancerous Condition" NARROW [] synonym: "Precancerous Condition" EXACT [] synonym: "precancerous conditions" EXACT [] synonym: "Preneoplastic Condition" EXACT [] synonym: "preneoplastic conditions" EXACT [] synonym: "Small Intestinal Intraepithelial Neoplasia" NARROW [] xref: EFO:0006892 xref: EFO:1000265 xref: EFO:1000443 xref: EFO:1000536 xref: MESH:D011230 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:0060072 name: benign neoplasm def: "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO)" [http://en.wikipedia.org/wiki/Benign_neoplasm "DO", http://www.nlm.nih.gov/medlineplus/benigntumors.html "DO"] synonym: "benign neoplasms" EXACT [] xref: EFO:0002422 xref: MONDO:0005165 is_a: DOID:14566 ! disease of cellular proliferation created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060073 name: lymphatic system cancer def: "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO)" [http://en.wikipedia.org/wiki/Lymphatic_system "DO"] is_a: DOID:0060083 ! immune system cancer is_a: DOID:75 ! lymphatic system disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060074 name: ductal carcinoma in situ def: "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)" [https://www.breastcancer.org/symptoms/types/dcis "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma "DO"] synonym: "Atypical Ductal Hyperplasia" RELATED [] synonym: "Atypical Ductal Hyperplasias" RELATED [] synonym: "DCIS" EXACT [] synonym: "Intraductal Carcinoma" EXACT [] synonym: "Intraductal Carcinomas" EXACT [] synonym: "noninfiltrating intraductal carcinoma" EXACT [] synonym: "noninfiltrating intraductal carcinomas" EXACT [] xref: EFO:0000432 xref: EFO:0008491 xref: MESH:D002285 is_a: DOID:8791 ! breast carcinoma in situ is_a: DOID:9008138 ! Ductal Carcinoma [Term] id: DOID:0060075 name: estrogen-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of estrogen receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] xref: EFO:1000649 xref: RDO:9001776 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060076 name: estrogen-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of estrogen receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] xref: EFO:1000650 xref: RDO:9001777 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060077 name: progesterone-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of progesterone receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] xref: EFO:0009782 xref: RDO:9001778 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060078 name: progesterone-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of progesterone receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] xref: EFO:0009781 xref: RDO:9001779 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060079 name: Her2-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of Her2 receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.sciencedirect.com/science/article/pii/S1470204511703369 "DO"] xref: EFO:1000294 xref: RDO:9001780 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060080 name: Her2-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of Her2 receptors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25682076 "DO"] xref: EFO:0009780 xref: RDO:9001781 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060081 name: triple-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22826413 "DO"] xref: EFO:0005537 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060082 name: breast benign neoplasm def: "A thoracic benign neoplasm that is characterized by lack of malignancy. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html "DO"] xref: RDO:9003366 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:0060083 name: immune system cancer def: "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"] is_a: DOID:0050686 ! organ system cancer is_a: DOID:2914 ! immune system disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0060084 name: cell type benign neoplasm def: "A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"] xref: EFO:0002422 is_a: DOID:0060072 ! benign neoplasm is_a: DOID:9002052 ! Neoplasms by Histologic Type created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060085 name: organ system benign neoplasm alt_id: DOID:1789 def: "A benign neoplasm that is classified by the organ system from which it is arising from. (DO)" [http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367 "DO"] xref: EFO:0002422 is_a: DOID:0060072 ! benign neoplasm is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:0060086 name: female reproductive organ benign neoplasm def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK9559/ "DO"] is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:0060087 name: male reproductive organ benign neoplasm def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK9556/ "DO"] xref: RDO:9002414 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:9003125 ! Male Genital Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060088 name: vestibular gland benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO)" [https://en.wikipedia.org/wiki/Bartholin%27s_gland "DO", https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4 "DO"] is_a: DOID:0060086 ! female reproductive organ benign neoplasm created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060089 name: endocrine organ benign neoplasm def: "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)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9007803 ! Endocrine Gland Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060090 name: central nervous system benign neoplasm def: "A nervous system benign neoplasm that is characterized by lack of malignancy. (DO)" [https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq "DO"] is_a: DOID:0060115 ! nervous system benign neoplasm is_a: DOID:9007701 ! Central Nervous System Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060091 name: cardiovascular organ benign neoplasm def: "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:1287 ! cardiovascular system disease created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060092 name: immune system organ benign neoplasm def: "An organ system benign neoplasm located_in the immune system organs. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"] xref: RDO:9002422 is_a: DOID:0060085 ! organ system benign neoplasm [Term] id: DOID:0060094 name: bone benign neoplasm def: "A connective tissue benign neoplasm that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_tumor "DO"] is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:0080001 ! bone disease [Term] id: DOID:0060095 name: uterine benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the uterus. (DO)" [https://en.wikipedia.org/wiki/Uterine_fibroid "DO", https://www.ncbi.nlm.nih.gov/books/NBK9559/ "DO"] xref: RDO:9002424 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9004268 ! Uterine Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060096 name: sensory organ benign neoplasm def: "A nervous system benign neoplasm that is located_in a sensory organ. (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"] is_a: DOID:0050155 ! sensory system disease is_a: DOID:0060115 ! nervous system benign neoplasm [Term] id: DOID:0060097 name: thoracic benign neoplasm def: "An organ system benign neoplam that is located_in the thoracic cavity. (DO)" [http://en.wikipedia.org/wiki/Thoracic_cavity "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:0060118 ! thoracic disease [Term] id: DOID:0060098 name: osteoblastoma def: "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO)" [https://en.wikipedia.org/wiki/Osteoblastoma "DO"] synonym: "giant osteoid osteoma" EXACT [] synonym: "giant osteoid osteomas" EXACT [] synonym: "osteoblastomas" EXACT [] xref: EFO:1000410 xref: ICDO:9200/0 xref: MESH:D018215 xref: NCI:C3294 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:0060099 name: musculoskeletal system benign neoplasm def: "An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO)" [http://en.wikipedia.org/wiki/Musculoskeletal_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0060100 name: musculoskeletal system cancer def: "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO)" [http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders "DO"] synonym: "skeletal system cancer" EXACT [] is_a: DOID:0050686 ! organ system cancer is_a: DOID:17 ! musculoskeletal system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0060102 name: cartilage cancer def: "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO)" [https://en.wikipedia.org/wiki/Cartilage_tumor "DO"] is_a: DOID:1222 ! cartilage disease is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:0060103 name: central nervous system embryonal tumor def: "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)" [http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 "DO", https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor "DO"] synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "CNS embryonal tumour, NEC/NOS" EXACT [] xref: ICDO:9473/3 xref: NCI:C5398 is_a: DOID:368 ! cerebrum cancer is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors [Term] id: DOID:0060104 name: cerebellar medulloblastoma def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO"] xref: EFO:0002939 is_a: DOID:0050902 ! medulloblastoma is_a: DOID:4205 ! cerebellum cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060106 name: brain meningioma def: "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)" [https://en.wikipedia.org/wiki/Meningioma "DO"] is_a: DOID:1319 ! brain cancer is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060108 name: brain glioma def: "A brain cancer that has_material_basis_in glial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/lowergradeglioma "DO", http://www.cancer.gov/dictionary?CdrID=45700 "DO"] synonym: "Familial Glioma of Brain" EXACT [] synonym: "lower grade glioma" RELATED [] xref: MESH:C564230 is_a: DOID:1319 ! brain cancer is_a: DOID:3070 ! high grade glioma [Term] id: DOID:0060109 name: vulvar benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25220103 "DO"] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9005804 ! Vulvar Neoplasms [Term] id: DOID:0060110 name: cervical benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8400047 "DO"] is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:9003373 ! Uterine Cervical Neoplasms [Term] id: DOID:0060111 name: fallopian tube benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO)" [http://www.glowm.com/section_view/item/8 "DO"] synonym: "Borderline Fallopian Tube Serous Neoplasm" NARROW [] xref: EFO:1000134 xref: RDO:9003381 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9000189 ! Fallopian Tube Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060112 name: ovarian benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24992780 "DO"] synonym: "Benign Ovarian Endometrioid Tumor" NARROW [] synonym: "Benign Ovarian Surface Epithelial-Stromal Tumor" NARROW [] synonym: "ovarian adenoma benign" NARROW [] xref: EFO:0002507 xref: EFO:1000113 xref: EFO:1000116 xref: EFO:1000117 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9002762 ! Ovarian Neoplasms [Term] id: DOID:0060114 name: vaginal benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vagina. (DO)" [https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 "DO"] synonym: "vaginal benign neoplasms" EXACT [] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9006698 ! Vaginal Neoplasms [Term] id: DOID:0060115 name: nervous system benign neoplasm def: "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9006557 ! Nervous System Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060116 name: sensory system cancer def: "A nervous system cancer that is located in the sensory system. (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"] is_a: DOID:0050155 ! sensory system disease is_a: DOID:3093 ! nervous system cancer is_a: DOID:9008625 ! Somatosensory Disorders created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0060117 name: peritoneal benign neoplasm def: "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO)" [http://en.wikipedia.org/wiki/Peritoneal "DO"] is_a: DOID:0060097 ! thoracic benign neoplasm [Term] id: DOID:0060118 name: thoracic disease def: "A disease of anatomical entity that is located_in the thoracic cavity. (DO)" [http://en.wikipedia.org/wiki/Thoracic_cavity "DO"] synonym: "thoracic diseases" EXACT [] xref: MESH:D013896 is_a: DOID:1579 ! respiratory system disease is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:0060119 name: pharynx cancer def: "A gastrointestinal system cancer that is located_in the pharynx. (DO)" [http://en.wikipedia.org/wiki/Pharynx "DO"] synonym: "Pharyngeal Adenoid Cystic Carcinoma" NARROW [] synonym: "pharyngeal cancer" EXACT [] xref: EFO:0005577 xref: EFO:1000472 xref: NCI:C3325 xref: RDO:9002335 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9002346 ! Pharyngeal Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0060121 name: integumentary system benign neoplasm def: "An organ system benign neoplasm located_in the integumentary system organs. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:16 ! integumentary system disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060122 name: integumentary system cancer def: "An organ system cancer that is located_in the skin, hair and nails. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"] is_a: DOID:0050686 ! organ system cancer is_a: DOID:16 ! integumentary system disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060123 name: connective tissue benign neoplasm def: "A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Connective_tissue_neoplasm "DO"] synonym: "mesenchymal tissue neoplasm" EXACT [] synonym: "neoplasm of soft tissue" EXACT [] synonym: "neoplasm of soft tissues" EXACT [] synonym: "soft tissue benign neoplasm" EXACT [] synonym: "tumor of the soft tissue" EXACT [] xref: NCI:C3377 is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:9003944 ! Connective Tissue Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060125 name: heavy chain disease def: "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] synonym: "gamma Chain Disease" EXACT [] synonym: "gamma-Chain Diseases" EXACT [] synonym: "Heavy Chain Diseases" EXACT [] xref: EFO:1001341 xref: ICD10CM:C88.2 xref: ICDO:9762/3 xref: MESH:D006362 xref: NCI:C3082 xref: NCI:C3083 xref: NCI:C3892 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2916 ! hypersensitivity reaction type IV disease is_a: DOID:9003571 ! Paraproteinemias [Term] id: DOID:0060126 name: alpha chain disease def: "A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] synonym: "alpha-chain diseases" EXACT [] synonym: "alpha heavy chain disease" EXACT [] synonym: "heavy chain disease, IgA type" EXACT [] synonym: "immunoproliferative small intestinal disease" EXACT [] synonym: "IPSID" EXACT [] synonym: "mediterranean lymphoma" EXACT [] synonym: "Seligmann's disease" EXACT [] xref: EFO:1001798 xref: MESH:D007161 is_a: DOID:0060058 ! lymphoma is_a: DOID:0060125 ! heavy chain disease is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:0060127 name: gamma heavy chain disease def: "A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO)" [http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx "DO"] synonym: "Franklin's disease" EXACT [] synonym: "Franklin disease" EXACT [] synonym: "Franklins disease" EXACT [] xref: GARD:10346 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:0060128 name: mu chain disease def: "A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] synonym: "mu-chain diseases" EXACT [] is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:0060129 name: delta chain disease def: "A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:0060130 name: akinetopsia def: "An agnosia that is a loss of motion perception. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060131 name: alexithymia def: "An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060132 name: amusia alt_id: MIM:191200 def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "congenital amusia" EXACT [] synonym: "dysmelodia" EXACT [] synonym: "receptive amusia" EXACT [] synonym: "tone deafness" EXACT [] synonym: "tune deafness" EXACT [] xref: MESH:C566019 is_a: DOID:4090 ! agnosia is_a: DOID:9002886 ! Auditory Perceptual Disorders [Term] id: DOID:0060133 name: anosognosia def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "anosognosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060134 name: apperceptive agnosia def: "An agnosia that is a loss of the ability to distinguish visual shapes. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060135 name: apraxia def: "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "apraxia of phonation" EXACT [] synonym: "apraxias" EXACT [] synonym: "articulatory apraxia" EXACT [] synonym: "articulatory apraxias" EXACT [] synonym: "Articulatory Dyspraxia" EXACT [] synonym: "articulatory dyspraxias" EXACT [] synonym: "CAS" EXACT [] synonym: "Developmental Verbal Apraxia" EXACT [] synonym: "developmental verbal apraxias" EXACT [] synonym: "developmental verbal dyspraxia" EXACT [] synonym: "developmental verbal dyspraxias" EXACT [] synonym: "Dressing Apraxia" EXACT [] synonym: "dressing apraxias" EXACT [] synonym: "DVD" EXACT [] synonym: "Dyspraxia" EXACT [] synonym: "Dyspraxias" EXACT [] synonym: "Facial-Oral Apraxia" EXACT [] synonym: "Facial-Oral Apraxias" EXACT [] synonym: "Gestural Apraxia" EXACT [] synonym: "Gestural Apraxias" EXACT [] synonym: "Ideational Apraxia" EXACT [] synonym: "Ideational Apraxias" EXACT [] synonym: "Motor Apraxia" EXACT [] synonym: "Motor Apraxias" EXACT [] synonym: "Oral Apraxia" EXACT [] synonym: "Oral Apraxias" EXACT [] synonym: "Oral Dyspraxia" EXACT [] synonym: "Oral Dyspraxias" EXACT [] synonym: "phonation apraxia" EXACT [] synonym: "phonation apraxias" EXACT [] synonym: "verbal apraxia" EXACT [] synonym: "verbal apraxias" EXACT [] synonym: "verbal dyspraxia" EXACT [] synonym: "verbal dyspraxias" EXACT [] xref: GARD:5838 xref: ICD10CM:R48.2 xref: MESH:D001072 xref: NCI:C180557 is_a: DOID:4090 ! agnosia is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0060136 name: associative agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060137 name: auditory agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "congenital auditory agnosia" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060138 name: autotopagnosia def: "An agnosia that is a loss of the ability to orient parts of the body. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060139 name: color agnosia def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060140 name: cortical deafness def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "central hearing loss" EXACT [] xref: MESH:D006313 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:4090 ! agnosia is_a: DOID:9008117 ! Central Auditory Diseases [Term] id: DOID:0060141 name: finger agnosia def: "An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060142 name: form agnosia def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060143 name: integrative agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060144 name: mirror agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060145 name: pain agnosia def: "An agnosia that is a loss of the ability to perceive and process pain. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "analgesia" EXACT [] xref: EFO:1001484 is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060146 name: phonagnosia def: "An agnosia that is a loss of the ability to recognize familiar voices. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060147 name: semantic agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060148 name: simultanagnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] xref: GARD:11943 xref: MONDO:0000678 is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060149 name: social emotional agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "expressive agnosia" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060150 name: astereognosia def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "somatosensory agnosia" EXACT [] synonym: "somatosensory agnosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060151 name: tactile agnosia def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "tactile agnosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060152 name: time agnosia def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "time agnosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060153 name: topographical agnosia def: "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)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "topographical agnosias" EXACT [] is_a: DOID:0060155 ! visual agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060154 name: verbal auditory agnosia def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060155 name: visual agnosia def: "An agnosia that is a loss of the ability to visually recognize objects. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "monomodal visual amnesia" EXACT [] synonym: "primary visual agnosia" EXACT [] synonym: "visual agnosia for objects" EXACT [] synonym: "visual agnosias" EXACT [] synonym: "visual amnesia" EXACT [] xref: MESH:C531604 is_a: DOID:4090 ! agnosia [Term] id: DOID:0060156 name: visual verbal agnosia def: "An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "Alexia, Pure" EXACT [] synonym: "Alexia Syndrome Without Agraphia" EXACT [] synonym: "Alexia Without Agraphia" EXACT [] synonym: "alexia without agraphias" EXACT [] synonym: "Pure Alexias" EXACT [] synonym: "Pure Alexia Without Agraphia" EXACT [] synonym: "Pure Word Blindness" EXACT [] synonym: "Pure Word Blindnesses" EXACT [] synonym: "visual verbal agnosias" EXACT [] xref: MESH:D020237 is_a: DOID:0060155 ! visual agnosia is_a: DOID:13417 ! alexia [Term] id: DOID:0060157 name: diffuse alopecia areata def: "An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO)" [http://en.wikipedia.org/wiki/Alopecia_areata "DO"] synonym: "alopecia celsi" EXACT [] synonym: "Cazenave's vitiligo" EXACT [] synonym: "Celsus' Vitiligo" EXACT [] synonym: "diffuse alopecia" EXACT [] synonym: "Jonston's Alopecia" EXACT [] synonym: "marginal alopecia" EXACT [] synonym: "patchy alopecia" EXACT [] xref: MESH:C531609 xref: MONDO:0000687 is_a: DOID:986 ! alopecia areata [Term] id: DOID:0060158 name: acquired metabolic disease def: "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)" [http://en.wikipedia.org/wiki/Inborn_error_of_metabolism "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO"] xref: EFO:1000639 is_a: DOID:0014667 ! disease of metabolism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060159 name: organic acidemia def: "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)" [http://en.wikipedia.org/wiki/Aciduria "DO"] synonym: "organic acid metabolism disorder" EXACT [] synonym: "organic aciduria" EXACT [] xref: GARD:9433 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060160 name: childhood spinal muscular atrophy def: "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)" [http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy "DO"] synonym: "juvenile muscular atrophy" EXACT [] synonym: "juvenile spinal muscular atrophy" EXACT [] synonym: "spinal muscular atrophies of childhood" EXACT [] synonym: "spinal muscular atrophy 1" EXACT [] synonym: "spinal muscular atrophy of childhood" EXACT [] synonym: "survival motor neuron spinal muscular atrophy" EXACT [] xref: MESH:D014897 xref: NCI:C85076 xref: ORDO:70 is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0060161 name: Kennedy's disease alt_id: MESH:C537017 alt_id: MIM:313200 def: "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)" [http://en.wikipedia.org/wiki/Kennedy_disease "DO"] synonym: "KD" EXACT [] synonym: "Kennedy disease" EXACT [] synonym: "Kennedys disease" EXACT [] synonym: "Kennedy spinal and bulbar muscular atrophy" EXACT [] synonym: "Kennedy Syndrome" EXACT [] synonym: "SBMA" EXACT [] synonym: "SMAX1" EXACT [] synonym: "spinal and bulbar muscular atrophy" EXACT [] synonym: "spinal bulbar muscular atrophy" EXACT [] synonym: "spinobulbar muscular atrophy" EXACT [] synonym: "XBSN" EXACT [] synonym: "X-linked bulbo-spinal atrophies" EXACT [] synonym: "X-linked bulbo-spinal atrophy" EXACT [] synonym: "X linked bulbospinal muscular atrophy" EXACT [] synonym: "X-linked bulbospinal neuronopathy, recessive" EXACT [] synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [] synonym: "X-linked spinal and bulbar muscular atrophy 1" EXACT [] xref: GARD:6818 xref: MESH:D055534 xref: NCI:C85233 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0060162 name: dentatorubral-pallidoluysian atrophy alt_id: MIM:125370 def: "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)" [http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy "DO"] synonym: "ataxia, chorea, seizures, and dementia" EXACT [] synonym: "ATN1-RELATED DISORDERS" BROAD [] synonym: "congenital ATN1-related disorder" BROAD [] synonym: "DRPLA" EXACT [] synonym: "Haw River syndrome" EXACT [] synonym: "HRS" EXACT [] synonym: "myoclonic epilepsy with choreoathetosis" EXACT [] synonym: "Naito Oyanagi disease" EXACT [] xref: GARD:5643 xref: MESH:C538427 xref: NCI:C122653 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:891 ! progressive myoclonus epilepsy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060163 name: body dysmorphic disorder def: "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO)" [http://en.wikipedia.org/wiki/Body_dysmorphic_disorder "DO"] synonym: "body dysmorphia" EXACT [] synonym: "body dysmorphic disorders" EXACT [] synonym: "Body Image Disfunction" EXACT [] synonym: "Body Image Disfunctions" EXACT [] synonym: "body image disorder" EXACT [] synonym: "body image disorders" EXACT [] synonym: "dysmorphic features" RELATED [] synonym: "dysmorphic syndrome" EXACT [] synonym: "dysmorphophobia" EXACT [] xref: MESH:D057215 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:0060164 name: pain disorder def: "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO)" [http://en.wikipedia.org/wiki/Pain_disorder "DO"] is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:0060165 name: Kleine-Levin syndrome alt_id: MIM:148840 def: "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO)" [http://en.wikipedia.org/wiki/Kleine-Levin_syndrome "DO"] synonym: "familial hibernation (Kleine-Levin) syndrome" EXACT [] synonym: "Familial Kleine Levin Syndrome" EXACT [] synonym: "Kleine Levin Critchley Syndrome" EXACT [] synonym: "Kleine Levin Hibernation Syndrome" EXACT [] synonym: "Periodic Hypersomnia" EXACT [] synonym: "periodic hypersomnias" EXACT [] xref: EFO:1001354 xref: MESH:D017593 is_a: DOID:225 ! syndrome is_a: DOID:8619 ! recurrent hypersomnia [Term] id: DOID:0060166 name: bipolar ll disorder alt_id: DOID:0080221 alt_id: MIM:309200 def: "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)" [http://en.wikipedia.org/wiki/Bipolar_II "DO"] synonym: "MAFD2" EXACT [] synonym: "major affective disorder 2" EXACT [] synonym: "manic-depressive illness" EXACT [] synonym: "manic-depressive psychosis, X-linked" EXACT [] synonym: "MDI" EXACT [] synonym: "MDX" EXACT [] xref: EFO:0009964 xref: MESH:C564108 is_a: DOID:3312 ! bipolar disorder created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060167 name: seasonal affective disorder def: "A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO)" [http://en.wikipedia.org/wiki/Seasonal_affective_disorder "DO"] synonym: "seasonal affective disorders" EXACT [] synonym: "seasonal mood disorder" EXACT [] synonym: "seasonal mood disorders" EXACT [] synonym: "winter depression" EXACT [] xref: MESH:D016574 is_a: DOID:1596 ! depressive disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0060168 name: histidinemia alt_id: MIM:235800 def: "A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)" [http://en.wikipedia.org/wiki/Histidinemia "DO", https://ghr.nlm.nih.gov/condition/histidinemia "DO"] synonym: "deficiency in histidase" EXACT [] synonym: "HAL Deficiency" EXACT [] synonym: "HIS DEFICIENCY" EXACT [] synonym: "Histidase deficiency" EXACT [] synonym: "Histidine ammonia-lyase deficiency" EXACT [] synonym: "histidinuria" EXACT [] synonym: "hyperhistidinemia" EXACT [] synonym: "increased histidine" EXACT [] xref: GARD:6661 xref: MESH:C538320 is_a: DOID:9265 ! histidine metabolism disease [Term] id: DOID:0060169 name: benign familial infantile epilepsy def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/12503648 "DO"] synonym: "benign familial infantile convulsion" EXACT [] synonym: "benign familial infantile convulsions" EXACT [] synonym: "benign familial infantile convulsions syndrome" EXACT [] synonym: "benign familial infantile seizures" EXACT [] synonym: "BFIC" EXACT [] synonym: "BFIE" EXACT [] xref: GARD:1518 xref: GARD:857 xref: MIM:PS601764 xref: NCI:C183308 xref: ORDO:306 is_a: DOID:0050703 ! infancy electroclinical syndrome created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060170 name: generalized epilepsy with febrile seizures plus def: "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22011963 "DO"] synonym: "GEFS+" EXACT [] xref: ICD10CM:G40.3 xref: MESH:C565808 xref: MIM:PS604233 xref: ORDO:36387 is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:9007956 ! Febrile Seizures [Term] id: DOID:0060172 name: juvenile absence epilepsy def: "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27986418 "DO"] synonym: "JAE" EXACT [] synonym: "juvenile absence epilepsies" EXACT [] xref: MIM:PS607631 xref: NCI:C129868 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060173 name: Timothy syndrome alt_id: MIM:601005 def: "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)" [http://www.ncbi.nlm.nih.gov/books/NBK1403/ "DO", https://ghr.nlm.nih.gov/condition/timothy-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15863612 "DO"] synonym: "CACNA1C-related disorder" BROAD [] synonym: "long QT syndrome with syndactyly" EXACT [] synonym: "TIMOTHY SYNDROME TYPE 1" NARROW [] synonym: "TS" EXACT [] xref: GARD:9294 xref: MESH:C536962 xref: ORDO:65283 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:12849 ! autistic disorder is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0060174 name: GABA aminotransferase deficiency alt_id: MIM:613163 def: "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)" [https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms "DO"] synonym: "4 alpha aminobutyrate transaminase deficiency" EXACT [] synonym: "GABA-transaminase deficiency" EXACT [] synonym: "Gamma aminobutyrate transaminase deficiency" EXACT [] synonym: "gamma aminobutyric acid transaminase deficiency" EXACT [] synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [] xref: MESH:C535407 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060175 name: succinic semialdehyde dehydrogenase deficiency alt_id: MIM:271980 def: "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)" [http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism "DO"] synonym: "4-hydroxybutyric aciduria" EXACT [] synonym: "4-hydroxybutyricaciduria" EXACT [] synonym: "GABA metabolic defect" EXACT [] synonym: "gamma-hydroxybutyric acidemia" EXACT [] synonym: "gamma-hydroxybutyric aciduria" EXACT [] synonym: "SSADH" EXACT [] synonym: "SSADHD" EXACT [] synonym: "SSADH deficiency" EXACT [] synonym: "succinate-semialdehyde dehydrogenase deficiency" EXACT [] xref: MESH:C535803 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060176 name: gamma-amino butyric acid metabolism disorder def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12891648 "DO"] xref: RDO:9003115 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060177 name: homocarnosinosis alt_id: MIM:212200 alt_id: MIM:236130 def: "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)" [http://en.wikipedia.org/wiki/Carnosinemia "DO", http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf "DO"] synonym: "carnosinase deficiency" EXACT [] synonym: "carnosinemia" EXACT [] synonym: "homocarnosinase deficiency" EXACT [] xref: GARD:2730 xref: MESH:C535328 xref: NCI:C125661 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:0060178 name: familial hemiplegic migraine def: "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)" [http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine "DO"] synonym: "familial hemiplegic migraines" EXACT [] xref: GARD:10975 xref: ICD10CM:G43.8 xref: ICD9CM:346.8 xref: MIM:PS141500 xref: ORDO:569 is_a: DOID:10024 ! migraine with aura created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060179 name: Renpenning syndrome alt_id: MIM:309500 def: "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)" [http://en.wikipedia.org/wiki/Renpenning%27s_syndrome "DO"] synonym: "Golabi-Ito-Hall syndrome" EXACT [] synonym: "Hamel Cerebropalatocardiac Syndrome" EXACT [] synonym: "MRX55" EXACT [] synonym: "MRXS3" EXACT [] synonym: "MRXS8" EXACT [] synonym: "Porteous Syndrome" EXACT [] synonym: "Renpenning syndrome 1" EXACT [] synonym: "RENS1" EXACT [] synonym: "SHS" EXACT [] synonym: "Sutherland-Haan syndrome" EXACT [] synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked mental retardation 8" EXACT [] synonym: "X-linked intellectual deficit due to PQBP1 mutations" EXACT [] synonym: "X-linked intellectual deficit, Renpenning type" EXACT [] synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [] synonym: "X-linked intellectual disability, Renpenning type" EXACT [] synonym: "X-linked mental retardation, 55" EXACT [] synonym: "X-linked mental retardation Renpenning type" EXACT [] synonym: "X-linked mental retardation syndromic 3" EXACT [] synonym: "X-linked mental retardation with spastic diplegia" EXACT [] xref: ICD10CM:Q87.5 xref: MESH:C537761 xref: NCI:C165533 xref: ORDO:3242 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1969 ! cerebral palsy [Term] id: DOID:0060180 name: colitis def: "An inflammatory bowel disease that involves inflammation located_in colon. (DO)" [http://en.wikipedia.org/wiki/Colitis "DO"] synonym: "colitides" EXACT [] xref: EFO:0003872 xref: MESH:D003092 xref: NCI:C26723 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:5353 ! colonic disease [Term] id: DOID:0060181 name: ischemic colitis def: "A colitis caused_by inadequate blood supply to the colon. (DO)" [http://en.wikipedia.org/wiki/Ischemic_colitis "DO", http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 "DO"] xref: ICD10CM:K55.9 xref: MESH:D017091 is_a: DOID:0060180 ! colitis is_a: DOID:178 ! vascular disease [Term] id: DOID:0060182 name: microscopic colitis def: "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO)" [http://en.wikipedia.org/wiki/Microscopic_colitis "DO", http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis "DO"] xref: EFO:1001295 xref: ICD10CM:K52.83 xref: MESH:D046728 xref: NCI:C38504 xref: ORDO:58220 is_a: DOID:0060180 ! colitis [Term] id: DOID:0060183 name: collagenous colitis def: "A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO)" [http://en.wikipedia.org/wiki/Collagenous_colitis "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts "DO"] xref: EFO:1001293 xref: GARD:6135 xref: ICD10CM:K52.831 xref: MESH:D046729 xref: NCI:C27021 is_a: DOID:0060182 ! microscopic colitis [Term] id: DOID:0060184 name: lymphocytic colitis def: "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO)" [http://en.wikipedia.org/wiki/Lymphocytic_colitis "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts "DO"] xref: EFO:1001294 xref: GARD:6939 xref: ICD10CM:K52.832 xref: MESH:D046730 xref: MONDO:0000704 xref: NCI:C27147 xref: ORDO:65279 is_a: DOID:0060182 ! microscopic colitis [Term] id: DOID:0060185 name: Clostridium difficile colitis def: "A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO)" [http://en.wikipedia.org/wiki/Clostridium_difficile_colitis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm "DO"] synonym: "antibiotic associated colitis" EXACT [] synonym: "clostridium enterocolitis" EXACT [] synonym: "pseudomembranous colitis" EXACT [] synonym: "pseudomembranous enteritis" EXACT [] synonym: "pseudomembranous enterocolitis" EXACT [] xref: EFO:1001314 xref: ICD10CM:A04.7 xref: MESH:D004761 xref: NCI:C128347 is_a: DOID:0060180 ! colitis is_a: DOID:9002805 ! Enterocolitis is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:0060186 name: chemical colitis def: "A colitis caused_by introduction of various chemicals. (DO)" [http://en.wikipedia.org/wiki/Chemical_colitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/18209577 "DO"] xref: ICD10CM:K52 xref: ICD9CM:558 is_a: DOID:0060180 ! colitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060187 name: diversion colitis def: "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO)" [http://en.wikipedia.org/wiki/Diversion_colitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/1916483 "DO"] is_a: DOID:0060180 ! colitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060188 name: jejunoileitis def: "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)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO", https://www.ncbi.nlm.nih.gov/pubmed/15973125 "DO"] xref: ICD10CM:K50.0 is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060189 name: ileitis def: "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)" [http://en.wikipedia.org/wiki/Ileitis "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO"] synonym: "Crohn's ileitis" EXACT [] xref: MESH:D007079 xref: NCI:C84782 is_a: DOID:8778 ! Crohn's disease is_a: DOID:9001261 ! Ileal Diseases is_a: DOID:9007156 ! Enteritis [Term] id: DOID:0060190 name: ileocolitis def: "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. (DO)" [https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO"] xref: EFO:0005624 is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060191 name: gastroduodenal Crohn's disease def: "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)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO", https://www.ncbi.nlm.nih.gov/pubmed/12769447 "DO"] synonym: "upper GI Crohn's disease" EXACT [] is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060192 name: Crohn's colitis def: "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)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO"] xref: EFO:0005622 xref: ICD10CM:K50.1 xref: ICD9CM:555.1 xref: NCI:C35211 xref: NCI:C37262 is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060193 name: amyotrophic lateral sclerosis type 1 alt_id: MIM:105400 def: "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)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO"] synonym: "ALS1" EXACT [] synonym: "amyotrophic lateral sclerosis 1" EXACT [] synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" NARROW [] synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" NARROW [] synonym: "amyotrophic lateral sclerosis 1, familial" EXACT [] synonym: "amyotrophic lateral sclerosis, autosomal dominant" NARROW [] synonym: "amyotrophic lateral sclerosis, dominant" NARROW [] synonym: "amyotrophic lateral sclerosis, familial" EXACT [] synonym: "amyotrophic lateral sclerosis, sporadic" NARROW [] synonym: "FALS" EXACT [] synonym: "NEFH-RELATED CONDITION" RELATED [] xref: MESH:C531617 xref: NCI:C168749 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060194 name: juvenile amyotrophic lateral sclerosis 2 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO)" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", url:http\://omim.org/entry/205100 "DO"] synonym: "ALS2" EXACT [] synonym: "ALS2-related spectrum disorders" RELATED [] synonym: "ALSJ" BROAD [] synonym: "amyotrophic lateral sclerosis 2" EXACT [] synonym: "amyotrophic lateral sclerosis type 2" EXACT [] synonym: "juvenile ALS" BROAD [] xref: GARD:9470 xref: MESH:C565957 xref: MIM:205100 xref: MONDO:0008780 is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0060195 name: amyotrophic lateral sclerosis type 3 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/606640 "DO"] synonym: "ALS3" EXACT [] synonym: "amyotrophic lateral sclerosis 3" EXACT [] xref: GARD:10501 xref: MESH:C564688 xref: MIM:606640 xref: MONDO:0011691 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060196 name: juvenile amyotrophic lateral sclerosis 4 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", url:http\://omim.org/entry/602433 "DO"] synonym: "ALS 4" EXACT [] synonym: "ALS4" EXACT [] synonym: "amyotrophic lateral sclerosis 4" EXACT [] synonym: "amyotrophic lateral sclerosis type 4" EXACT [] synonym: "dHMN with upper motor neuron signs" EXACT [] synonym: "distal hereditary motor neuronopathy with pyramidal features" EXACT [] synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [] synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [] synonym: "SETX-RELATED CONDITION" BROAD [] synonym: "SETX-related disorder" BROAD [] synonym: "SETX-related disorders" BROAD [] xref: GARD:10502 xref: ICD10CM:G12.2 xref: MESH:C566550 xref: MIM:602433 xref: MONDO:0011223 xref: ORDO:357043 is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0060197 name: juvenile amyotrophic lateral sclerosis 5 alt_id: MIM:602099 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", url:http\://omim.org/entry/602099 "DO"] synonym: "ALS5" EXACT [] synonym: "amyotrophic lateral sclerosis 5" EXACT [] synonym: "amyotrophic lateral sclerosis type 5" EXACT [] xref: GARD:10503 xref: MESH:C566576 is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0060198 name: amyotrophic lateral sclerosis type 6 alt_id: MESH:C567699 alt_id: MIM:608030 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608030 "DO"] synonym: "ALS6" EXACT [] synonym: "amyotrophic lateral sclerosis 6" EXACT [] synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [] synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [] synonym: "FUS-RELATED CONDITION" BROAD [] xref: GARD:9874 xref: MESH:C538251 xref: NCI:C168750 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060199 name: amyotrophic lateral sclerosis type 7 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608031 "DO"] synonym: "ALS7" EXACT [] synonym: "amyotrophic lateral sclerosis 7" EXACT [] xref: GARD:10500 xref: MESH:C564300 xref: MIM:608031 xref: MONDO:0011952 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060200 name: amyotrophic lateral sclerosis type 9 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/611895 "DO"] synonym: "ALS9" EXACT [] synonym: "amyotrophic lateral sclerosis 9" EXACT [] synonym: "ANG-related condition" BROAD [] xref: GARD:10498 xref: MESH:C567499 xref: MIM:611895 xref: MONDO:0012753 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060201 name: amyotrophic lateral sclerosis type 10 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/612069 "DO"] synonym: "ALS10" EXACT [] synonym: "amyotrophic lateral sclerosis 10" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" EXACT [] synonym: "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED" RELATED [] synonym: "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED" RELATED [] synonym: "FTLD-TDP, TARDBP-related" RELATED [] synonym: "TARDBP-related condition" BROAD [] synonym: "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions" RELATED [] xref: GARD:10497 xref: MESH:C567429 xref: MIM:612069 xref: MONDO:0012790 xref: NCI:C168752 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060202 name: amyotrophic lateral sclerosis type 11 alt_id: MIM:612577 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/612577 "DO"] synonym: "ALS11" EXACT [] synonym: "amyotrophic lateral sclerosis 11" EXACT [] xref: GARD:10496 xref: MESH:C567244 xref: NCI:C168753 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060203 name: amyotrophic lateral sclerosis type 12 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/613435 "DO"] synonym: "ALS12" EXACT [] synonym: "amyotrophic lateral sclerosis 12" EXACT [] synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT [] xref: MIM:613435 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060204 name: amyotrophic lateral sclerosis type 13 def: "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/183090 "DO"] synonym: "ALS13" EXACT [OMIM:183090] synonym: "amyotrophic lateral sclerosis 13" EXACT [OMIM:183090] xref: RDO:9004682 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0060205 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/613954 "DO"] synonym: "ALS14" EXACT [] synonym: "amyotrophic lateral sclerosis 14" EXACT [] synonym: "amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 14 without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis type 14" EXACT [] synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [] synonym: "FTDALS6" EXACT [] xref: MIM:613954 xref: NCI:C168754 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0060206 name: amyotrophic lateral sclerosis type 15 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/300857 "DO"] synonym: "ALS15" EXACT [] synonym: "amyotrophic lateral sclerosis 15" EXACT [] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [] xref: MIM:300857 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060207 name: amyotrophic lateral sclerosis type 16 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/614373 "DO"] synonym: "ALS16" EXACT [] synonym: "amyotrophic lateral sclerosis 16" EXACT [] xref: MIM:614373 xref: MONDO:0013715 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060209 name: amyotrophic lateral sclerosis type 18 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/614808 "DO"] synonym: "ALS18" EXACT [] synonym: "amyotrophic lateral sclerosis 18" EXACT [] synonym: "PFN1-RELATED CONDITION" EXACT [] xref: MIM:614808 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060210 name: amyotrophic lateral sclerosis type 19 alt_id: RDO:9000975 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/615515 "DO"] synonym: "ALS19" EXACT [] synonym: "amyotrophic lateral sclerosis 19" EXACT [] synonym: "ERBB4-RELATED CONDITION" EXACT [] xref: MIM:615515 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060211 name: amyotrophic lateral sclerosis type 20 alt_id: RDO:9000807 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/615426 "DO"] synonym: "ALS20" EXACT [] synonym: "amyotrophic lateral sclerosis 20" EXACT [] xref: MIM:615426 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060212 name: amyotrophic lateral sclerosis type 21 alt_id: MIM:606070 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO)" [http://omim.org/entry/606070 "DO"] synonym: "ALS21" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 21" EXACT [] synonym: "amyotropic lateral sclerosis 21" EXACT [] synonym: "distal myopathy 2" EXACT [] synonym: "distal myopathy with vocal cord and pharyngeal signs" EXACT [] synonym: "Distal Myopathy with Vocal Cord Weakness" EXACT [] synonym: "Matrin 3 Distal Myopathy" EXACT [] synonym: "Mpd2" EXACT [] synonym: "Myopathia Distalis Type 2" EXACT [] synonym: "VCPDM" EXACT [] synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" EXACT [] synonym: "vocal cord and pharyngeal weakness with distal myopathy" EXACT [] xref: MESH:C565262 xref: NCI:C168755 is_a: DOID:11720 ! distal myopathy is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:786 ! laryngeal disease is_a: DOID:9004130 ! Pharyngeal Diseases [Term] id: DOID:0060213 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1 alt_id: MIM:105550 def: "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)" [http://omim.org/entry/105550 "DO"] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [] synonym: "FTDALS1" EXACT [] xref: MESH:C566288 xref: NCI:C168756 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0060214 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2 def: "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)" [http://omim.org/entry/615911 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24934289 "DO"] synonym: "FTDALS2" EXACT [] xref: MIM:615911 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0060215 name: Balo concentric sclerosis def: "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)" [http://en.wikipedia.org/wiki/Balo_concentric_sclerosis "DO", https://pubmed.ncbi.nlm.nih.gov/32140322/ "DO", https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/ "DO"] synonym: "Balo's concentric sclerosis" EXACT [] synonym: "Balo disease" EXACT [] synonym: "Tumefactive multiple sclerosis" EXACT [] xref: GARD:5885 xref: ICD10CM:G37.0 xref: ICD9CM:341.1 xref: NCI:C84670 is_a: DOID:2377 ! multiple sclerosis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060216 name: Cogan syndrome def: "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO)" [http://en.wikipedia.org/wiki/Cogan_syndrome "DO"] synonym: "Cogan's Syndrome" EXACT [] synonym: "Cogans Syndrome" EXACT [] synonym: "diffuse interstitual keratitis" RELATED [] xref: GARD:1421 xref: ICD10CM:H16.32 xref: MESH:D055952 xref: ORDO:1467 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:225 ! syndrome is_a: DOID:5614 ! eye disease is_a: DOID:865 ! vasculitis [Term] id: DOID:0060217 name: Cogan-Reese syndrome def: "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)" [http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome "DO", http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1 "DO"] xref: GARD:6125 xref: NCI:C84644 xref: ORDO:98980 xref: RDO:9003134 is_a: DOID:9003072 ! Iridocorneal Endothelial Syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060218 name: CREST syndrome def: "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO)" [http://en.wikipedia.org/wiki/CREST_syndrome "DO"] synonym: "Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome" EXACT [] synonym: "Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia" EXACT [] synonym: "CREST syndromes" EXACT [] synonym: "CRST Syndrome" EXACT [] synonym: "CRST syndromes" EXACT [] xref: GARD:12430 xref: ICD10CM:M34.1 xref: MESH:D017675 xref: NCI:C70646 is_a: DOID:10300 ! Raynaud disease is_a: DOID:1272 ! telangiectasis is_a: DOID:1577 ! limited scleroderma is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:9192 ! dyskinesia of esophagus [Term] id: DOID:0060219 name: lymph node adenoid cystic carcinoma def: "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)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/ "DO"] synonym: "lymph node adenoid cystic cancer" EXACT [] is_a: DOID:0080202 ! adenoid cystic carcinoma is_a: DOID:0080618 ! lymph node carcinoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060220 name: physical urticaria def: "An urticaria induced by external physical influences. (DO)" [http://en.wikipedia.org/wiki/Physical_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"] synonym: "acquired cold urticaria" NARROW [] synonym: "cold urticaria" NARROW [] xref: EFO:1000754 xref: EFO:1001871 xref: EFO:1001881 xref: RDO:9003995 is_a: DOID:1555 ! urticaria created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060221 name: Maffucci syndrome alt_id: RDO:9003248 def: "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO)" [http://en.wikipedia.org/wiki/Maffucci_syndrome "DO", http://ghr.nlm.nih.gov/condition/maffucci-syndrome "DO"] synonym: "MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE" EXACT [] xref: GARD:6958 xref: MIM:614569 xref: ORDO:163634 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060222 name: Scheie syndrome def: "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO)" [http://en.wikipedia.org/wiki/Scheie_syndrome "DO"] synonym: "MPS1-S" EXACT [] synonym: "MPS5" EXACT [] synonym: "MPS V" EXACT [] synonym: "mucopolysaccharidosis 5" EXACT [] synonym: "mucopolysaccharidosis I S" EXACT [] synonym: "mucopolysaccharidosis Is" EXACT [] synonym: "mucopolysaccharidosis type 1S" EXACT [] synonym: "mucopolysaccharidosis type IS" EXACT [] synonym: "mucopolysaccharidosis type V" EXACT [] synonym: "Scheie's syndrome" EXACT [] xref: GARD:12561 xref: ICD10CM:E76.0 xref: MIM:607016 xref: NCI:C61265 xref: ORDO:93474 is_a: DOID:12802 ! mucopolysaccharidosis I is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060223 name: agraphia def: "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)" [http://en.wikipedia.org/wiki/Agraphia "DO", https://www.ncbi.nlm.nih.gov/pubmed/21507544 "DO"] synonym: "Acquired Agraphia" EXACT [] synonym: "acquired agraphias" EXACT [] synonym: "Acquired Dysgraphia" EXACT [] synonym: "acquired dysgraphias" EXACT [] synonym: "Agraphias" EXACT [] synonym: "Constructional Agraphia" EXACT [] synonym: "constructional agraphias" EXACT [] synonym: "Developmental Agraphia" EXACT [] synonym: "Developmental Agraphias" EXACT [] synonym: "Developmental Dysgraphia" EXACT [] synonym: "developmental dysgraphias" EXACT [] synonym: "pure agraphia" EXACT [] synonym: "pure agraphias" EXACT [] xref: MESH:D000381 is_a: DOID:0060047 ! writing disorder is_a: DOID:93 ! language disorder [Term] id: DOID:0060224 name: atrial fibrillation def: "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)" [http://en.wikipedia.org/wiki/Atrial_fibrillation "DO", http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/af "DO"] synonym: "A-fib" EXACT [] synonym: "AFib" EXACT [] synonym: "atrial fibrillation, association with" RELATED [] synonym: "atrial fibrillations" EXACT [] synonym: "ATRIAL FIBRILLATION, SOMATIC" NARROW [] synonym: "auricular fibrillation" EXACT [] synonym: "auricular fibrillations" EXACT [] synonym: "persistent atrial fibrillation" EXACT [] synonym: "persistent atrial fibrillations" EXACT [] xref: EFO:0000275 xref: ICD9CM:427.31 xref: MESH:D001281 xref: NCI:C50466 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0060225 name: 3MC syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16096999 "DO"] synonym: "craniofacial-ulnar-renal syndrome" EXACT [] synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT [] xref: GARD:1118 xref: MIM:PS257920 xref: ORDO:293843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2017-07-24T00:00:00Z [Term] id: DOID:0060226 name: acrofrontofacionasal dysostosis alt_id: MIM:201180 alt_id: RDO:0004129 def: "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)" [http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/2986457 "DO"] synonym: "acro fronto facio nasal dysostosis" EXACT [] synonym: "acrofrontofacionasal dysostosis 1" EXACT [] synonym: "Acrofrontofacionasal Dysostosis Syndrome" EXACT [] synonym: "AFFN dysostosis" EXACT [] synonym: "cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly" EXACT [] synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate" EXACT [] synonym: "Richieri-Costa-Colletto syndrome" EXACT [] xref: MESH:C538186 xref: ORDO:1784 is_a: DOID:1934 ! dysostosis is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060227 name: Adams-Oliver syndrome def: "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO)" [http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome "DO", http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18000904 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract "DO"] synonym: "absence defect of limbs, scalp, and skull" EXACT [] synonym: "AOS" EXACT [] synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" EXACT [] synonym: "aplasia cutis congenita with terminal transverse limb defects" EXACT [] synonym: "aplasia cutis of the scalp" EXACT [] synonym: "congenital defect of skull and scalp" EXACT [] synonym: "congenital scalp defect" EXACT [] synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [] synonym: "familial aplasia cutis congenita of the scalp" EXACT [] synonym: "scalp and head syndrome" EXACT [] synonym: "scalp defects with ectrodactyly" EXACT [] xref: GARD:5739 xref: MESH:C538225 xref: MIM:PS100300 xref: ORDO:974 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:3136 ! scalp dermatosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0060228 name: intracranial berry aneurysm def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO)" [http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms "DO", http://radiopaedia.org/articles/saccular-cerebral-aneurysm "DO"] synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [] synonym: "familial berry aneurysm" EXACT [] synonym: "familial intracranial saccular aneurysm" EXACT [] synonym: "saccular cerebral aneurysm" EXACT [] xref: MIM:PS105800 xref: ORDO:231160 is_a: DOID:10941 ! intracranial aneurysm created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060229 name: Baraitser-Winter syndrome def: "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)" [http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome "DO"] synonym: "cerebrofrontofacial syndrome" EXACT [] synonym: "cerebrooculofacial lymphatic syndrome" EXACT [] synonym: "Fryns-Aftimos Syndrome" EXACT [] synonym: "mental retardation with epilepsy and characteristic facies" EXACT [] synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" EXACT [] xref: GARD:5279 xref: MESH:C563904 xref: MESH:C565258 xref: MIM:PS243310 xref: ORDO:2995 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0060260 ! ptosis is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060230 name: basal ganglia calcification def: "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)" [http://en.wikipedia.org/wiki/Fahr%27s_syndrome "DO", http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract "DO"] synonym: "Fahr disease" EXACT [] xref: MIM:PS213600 xref: NCI:C129973 xref: RDO:9004937 is_a: DOID:182 ! calcinosis is_a: DOID:679 ! basal ganglia disease created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060231 name: Bruck syndrome def: "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)" [http://en.wikipedia.org/wiki/Bruck_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/9129737 "DO"] synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [] xref: ICD10CM:M21.8 xref: ORDO:2771 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060232 name: branchiootic syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22901925 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract "DO"] synonym: "BOR" EXACT [] synonym: "BO syndrome" EXACT [] synonym: "Branchiootic dysplasia" EXACT [] synonym: "INNER EAR MALFORMATION" NARROW [] xref: GARD:10148 xref: MESH:C537104 xref: ORDO:52429 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0060233 name: cardiofaciocutaneous syndrome def: "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)" [http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome "DO", http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract "DO"] synonym: "cardio-facial-cutaneous syndrome" EXACT [] synonym: "cardio-facio-cutaneous syndrome" EXACT [] synonym: "CFCS" EXACT [] synonym: "CFC syndrome" EXACT [] xref: GARD:9146 xref: MESH:C535579 xref: MIM:PS115150 xref: NCI:C84617 xref: ORDO:1340 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080690 ! RASopathy is_a: DOID:1682 ! congenital heart disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9001487 ! Facies [Term] id: DOID:0060234 name: Carpenter syndrome def: "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)" [http://en.wikipedia.org/wiki/Carpenter_syndrome "DO", http://ghr.nlm.nih.gov/condition/carpenter-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract "DO"] synonym: "ACPS 2" EXACT [] synonym: "ACPS II" EXACT [] synonym: "acrocephalopolysyndactyly type 2" EXACT [] synonym: "acrocephalopolysyndactyly type II" EXACT [] xref: GARD:6003 xref: MESH:C563187 xref: MIM:PS201000 xref: NCI:C98873 xref: ORDO:65759 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060235 name: carnitine palmitoyltransferase II deficiency alt_id: RDO:0000806 def: "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)" [http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency "DO", http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency "DO"] synonym: "CARNITINE DEFICIENCY" BROAD [] synonym: "carnitine palmitoyl transferase 2 deficiency" EXACT [] synonym: "carnitine palmitoyltransferase 2 deficiency" EXACT [] synonym: "carnitine palmitoyltransferase deficiency type 2" EXACT [] synonym: "CPT2 deficiency" EXACT [] synonym: "CPT-II" EXACT [] synonym: "CPT II deficiency" EXACT [] synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "muscle form of carnitine palmitoyltransferase deficiency" EXACT [] xref: MESH:C535589 xref: NCI:C114766 xref: ORDO:157 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0060236 name: xanthinuria def: "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)" [http://en.wikipedia.org/wiki/Xanthinuria "DO", https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/4369449 "DO"] synonym: "classic xanthinuria" EXACT [] synonym: "deficiency of xanthine oxidase" EXACT [] synonym: "hereditary xanthinuria" EXACT [] synonym: "xanthine dehydrogenase deficiency" EXACT [] synonym: "xanthine oxidase deficiency" EXACT [] synonym: "XDH deficiency" EXACT [] xref: MIM:PS278300 xref: ORDO:3467 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060237 name: Warburg micro syndrome alt_id: OMIA:001970 def: "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO)" [http://en.wikipedia.org/wiki/Micro_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22768674 "DO"] synonym: "micro syndrome" EXACT [] synonym: "polyneuropathy, ocular abnormalities and neuronal vacuolation" EXACT [] synonym: "WARBM" EXACT [] synonym: "Warburg Sjo Fledelius syndrome" EXACT [] xref: MESH:C536681 xref: MIM:PS600118 xref: ORDO:2510 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:83 ! cataract is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060238 name: Van Maldergem syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/1633641 "DO"] synonym: "Cerebrofacioarticular syndrome" EXACT [] synonym: "cerebro-facio-articular syndrome" EXACT [] synonym: "Cerebro-facio-articular syndrome of Van Maldergem" EXACT [] synonym: "Van Maldergem Wetzburger Verloes syndrome" EXACT [] xref: GARD:5456 xref: MESH:C536530 xref: MIM:PS601390 xref: ORDO:314679 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060239 name: Van der Woude syndrome alt_id: MIM:119300 def: "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO)" [http://en.wikipedia.org/wiki/Van_der_Woude_syndrome "DO", http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome "DO"] synonym: "Cleft lip and-or palate with mucous cysts of lower lip" EXACT [] synonym: "Lip pit syndrome" EXACT [] synonym: "LPS" EXACT [] synonym: "PIT" EXACT [] synonym: "VAN DER WOUDE SYNDROME 1" EXACT [] synonym: "VDWS" EXACT [] synonym: "VWS1" EXACT [] xref: GARD:8414 xref: ICD10CM:Q38.0 xref: MESH:C536528 xref: NCI:C74986 xref: ORDO:888 is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007583 ! Cysts is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060240 name: UV-sensitive syndrome def: "A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO)" [http://en.wikipedia.org/wiki/UV-sensitive_syndrome "DO", http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome "DO"] xref: MESH:C563466 xref: MIM:PS600630 xref: ORDO:178338 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:0060241 name: 3-M syndrome def: "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)" [http://en.wikipedia.org/wiki/3-M_syndrome "DO", http://ghr.nlm.nih.gov/condition/3-m-syndrome "DO"] synonym: "3M syndrome" EXACT [] synonym: "dolichospondylic dysplasia" EXACT [] synonym: "Gloomy Face Syndrome" EXACT [] synonym: "GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME" NARROW [] synonym: "Le Merrer syndrome" EXACT [] synonym: "Miller-McKusick-Malvaux syndrome" EXACT [] synonym: "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)" EXACT [] synonym: "Three-M Slender-Boned Nanism" EXACT [] synonym: "three-M syndrome" EXACT [] synonym: "Yakut short stature syndrome" EXACT [] xref: GARD:5667 xref: MESH:C535314 xref: MIM:PS273750 xref: ORDO:2616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0060242 name: synpolydactyly def: "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO)" [http://en.wikipedia.org/wiki/Synpolydactyly "DO", https://www.ncbi.nlm.nih.gov/pubmed/18177473 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8817328 "DO"] synonym: "syndactyly type 2" EXACT [] xref: GARD:5087 xref: NCI:C75003 xref: ORDO:295195 xref: ORDO:93403 is_a: DOID:11193 ! syndactyly created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060243 name: stuttering def: "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO)" [http://en.wikipedia.org/wiki/Stuttering "DO", http://www.asha.org/public/speech/disorders/stuttering.htm "DO", http://www.merriam-webster.com/dictionary/stutter "DO"] synonym: "acquired stuttering" EXACT [] synonym: "adult stuttering" EXACT [] synonym: "childhood stuttering" EXACT [] synonym: "developmental stuttering" EXACT [] synonym: "familial persistent stuttering" EXACT [] synonym: "stammering" EXACT [] xref: ICD10CM:F80.81 xref: MESH:D013342 xref: MIM:PS184450 xref: NCI:C35043 is_a: DOID:4186 ! articulation disorder [Term] id: DOID:0060244 name: specific language impairment def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO)" [http://en.wikipedia.org/wiki/Specific_language_impairment "DO", https://www.ncbi.nlm.nih.gov/pubmed/19646677 "DO"] synonym: "specific language disorder" EXACT [] synonym: "specific language disorders" EXACT [] xref: EFO:1001510 xref: MESH:D000080888 xref: MIM:PS606711 is_a: DOID:9005466 ! Language Development Disorders created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0060245 name: MAST syndrome alt_id: MIM:248900 def: "A hereditary spastic paraplegia associated with dementia. (DO)" [http://ghr.nlm.nih.gov/gene/SPG21 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6024251 "DO"] synonym: "autosomal recessive spastic paraplegia 21" EXACT [] synonym: "autosomal recessive spastic paraplegia type 21" EXACT [] synonym: "hereditary spastic paraplegia 21" EXACT [] synonym: "SPG21" EXACT [] xref: MESH:C565409 xref: ORDO:101001 is_a: DOID:1307 ! dementia is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0060246 name: MASA syndrome alt_id: MIM:303350 def: "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)" [http://en.wikipedia.org/wiki/MASA_syndrome "DO", http://ghr.nlm.nih.gov/condition/l1-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract "DO"] synonym: "adducted thumb with mental retardation" EXACT [] synonym: "clasped thumb and mental retardation" EXACT [] synonym: "congenital clasped thumb with mental retardation" EXACT [] synonym: "Crash syndrome" EXACT [] synonym: "Gareis-Mason syndrome" EXACT [] synonym: "hereditary spastic paraplegia 1" EXACT [] synonym: "L1 syndrome" EXACT [] synonym: "MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome" EXACT [] synonym: "Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)" EXACT [] synonym: "Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs" EXACT [] synonym: "SPASTIC PARAPLEGIA 1, X-LINKED" EXACT [] synonym: "Spastic paraplegia, type 1" EXACT [] synonym: "Spg1" EXACT [] synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [] synonym: "X-linked corpus callosum agenesis" EXACT [] synonym: "X-linked hydrocephalus syndrome" EXACT [] synonym: "X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas)" EXACT [] xref: GARD:6986 xref: MESH:C536029 xref: NCI:C129930 xref: ORDO:2466 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0060247 name: Smith-McCort dysplasia def: "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO)" [https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/1216821 "DO"] synonym: "SMC" EXACT [] xref: GARD:10620 xref: MESH:C564589 xref: MIM:PS607326 xref: ORDO:178355 is_a: DOID:0111167 ! Dyggve-Melchior-Clausen disease [Term] id: DOID:0060248 name: Simpson-Golabi-Behmel syndrome type 1 alt_id: MIM:312870 def: "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)" [http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome "DO", http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/36720533/ "DO"] synonym: "bulldog syndrome" EXACT [] synonym: "DGSX" EXACT [] synonym: "DGSX Golabi-Rosen syndrome" EXACT [] synonym: "dysplasia gigantism syndrome, X-linked" EXACT [] synonym: "Golabi-Rosen syndrome" EXACT [] synonym: "mental retardation-overgrowth syndrome" EXACT [] synonym: "Sara Angers syndrome" EXACT [] synonym: "SDYS" EXACT [] synonym: "SGBS" EXACT [] synonym: "SGBS1" EXACT [] synonym: "SGB syndrome" EXACT [] synonym: "Simpson dysmorphia syndrome" EXACT [] synonym: "Simpson dysplasia syndrome" EXACT [] synonym: "Simpson-Golabi-Behmel syndrome" EXACT [] synonym: "Simpson syndrome" EXACT [] xref: GARD:7649 xref: MESH:C537340 xref: NCI:C118787 xref: ORDO:373 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9006084 ! Gigantism [Term] id: DOID:0060249 name: scoliosis def: "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)" [http://en.wikipedia.org/wiki/Scoliosis "DO", http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 "DO"] synonym: "congenital scoliosis" NARROW [] synonym: "scolioses" EXACT [] xref: EFO:0004273 xref: ICD10CM:M41.9 xref: MESH:D012600 xref: MONDO:0005392 xref: NCI:C78603 is_a: DOID:0080010 ! bone structure disease is_a: DOID:9002608 ! Spinal Curvatures [Term] id: DOID:0060250 name: idiopathic scoliosis alt_id: MIM:181800 alt_id: MIM:607354 alt_id: MIM:608765 alt_id: MIM:612238 alt_id: MIM:612239 def: "A scoliosis with no known cause. (DO)" [http://en.wikipedia.org/wiki/Scoliosis "DO"] synonym: "ADOLESCENT IDIOPATHIC SCOLIOSIS" NARROW [] synonym: "ADOLESCENT ISOLATED SCOLIOSIS" NARROW [] synonym: "AIS" NARROW [] synonym: "idiopathic scoliosis, 3" RELATED [] synonym: "IS1" RELATED [] synonym: "IS2" RELATED [] synonym: "IS3" RELATED [] synonym: "IS4" RELATED [] synonym: "IS5" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 1" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 2" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 3" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 4" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 5" RELATED [] xref: EFO:0005423 xref: GARD:552 is_a: DOID:0060249 ! scoliosis created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060251 name: sclerosteosis alt_id: RDO:0003382 def: "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)" [http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance "DO", https://www.ncbi.nlm.nih.gov/pubmed/11836356 "DO"] synonym: "Cortical hyperostosis with syndactyly" EXACT [] synonym: "SOST" EXACT [] xref: GARD:4771 xref: MESH:C537525 xref: MIM:PS269500 xref: NCI:C131133 is_a: DOID:11193 ! syndactyly is_a: DOID:205 ! hyperostosis [Term] id: DOID:0060252 name: sclerocornea def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)" [http://en.wikipedia.org/wiki/Sclerocornea "DO", https://www.ncbi.nlm.nih.gov/pubmed/3994576 "DO"] synonym: "isolated congenital sclerocornea" EXACT [] synonym: "SCLEROCORNEA, AUTOSOMAL RECESSIVE" NARROW [] xref: MESH:C565209 xref: ORDO:91490 xref: RDO:0013918 is_a: DOID:10124 ! corneal disease [Term] id: DOID:0060253 name: scapuloperoneal myopathy def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28179901 "DO"] synonym: "MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY" NARROW [] synonym: "scapuloperoneal muscular dystrophy" EXACT [] synonym: "scapuloperoneal syndrome, myopathic type" EXACT [] xref: MESH:C536624 is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0060254 name: Robinow syndrome alt_id: RDO:0012199 def: "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)" [http://en.wikipedia.org/wiki/Robinow_syndrome "DO", http://ghr.nlm.nih.gov/condition/robinow-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract "DO"] synonym: "acral dysostosis with facial and genital abnormalities" EXACT [] synonym: "autosomal dominant Robinow syndrome" EXACT [] synonym: "fetal face syndrome" EXACT [] synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [] synonym: "Robinow dwarfism" EXACT [] synonym: "Robinow-Silverman-Smith syndrome" EXACT [] xref: GARD:312 xref: MESH:C562492 xref: MIM:PS268310 xref: NCI:C85048 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060255 name: rippling muscle disease 2 alt_id: DOID:0110302 alt_id: MIM:606072 def: "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)" [http://ghr.nlm.nih.gov/condition/rippling-muscle-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537420 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1C" EXACT [] synonym: "caveolinopathy" EXACT [] synonym: "LGMD1C" EXACT [] synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 1C" EXACT [] synonym: "limb-girdle muscular dystrophy type 1C, autosomal recessive" EXACT [] synonym: "muscular dystrophy limb-girdle type IC" EXACT [] synonym: "rippling muscle disease 2, autosomal recessive" NARROW [] synonym: "RMD" EXACT [] synonym: "RMD2" EXACT [] xref: GARD:9164 xref: MESH:C563362 xref: NCI:C148318 xref: NCI:C148325 xref: ORDO:265 xref: ORDO:97238 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0060256 name: Dowling-Degos disease def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)" [http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures "DO", http://ghr.nlm.nih.gov/condition/dowling-degos-disease "DO"] synonym: "acropigmentatio reticularis" EXACT [] synonym: "dark dot disease" EXACT [] synonym: "DDD" EXACT [] synonym: "Dowling-Degos-Kitamura disease" EXACT [] synonym: "reticular pigment anomaly of flexures" EXACT [] synonym: "RPK" EXACT [] xref: GARD:9775 xref: MESH:C562924 xref: MIM:PS179850 xref: ORDO:79145 is_a: DOID:9003984 ! Hyperpigmentation is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:0060257 name: dyschromatosis symmetrica hereditaria def: "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO)" [http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria "DO", https://www.ncbi.nlm.nih.gov/pubmed/22974014 "DO"] synonym: "DSH" EXACT [] synonym: "DSH1" EXACT [] synonym: "Dyschromatosis Symmetrica Hereditaria 1" EXACT [] synonym: "Familial reticulate acropigmentation of Dohi" EXACT [] synonym: "RAD" EXACT [] synonym: "reticulate acropigmentation of Dohi" EXACT [] synonym: "symmetrical dyschromatosis of extremities" EXACT [] synonym: "symmetric dyschromatosis of the extremities" EXACT [] xref: MESH:C535729 xref: MIM:127400 xref: MONDO:0007483 xref: NCI:C118435 xref: ORDO:41 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:0060258 name: reticulate acropigmentation of Kitamura def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22808308 "DO"] synonym: "Acropigmentatio Reticularis" EXACT [] synonym: "Kitamura Reticulate Acropigmentation" EXACT [] synonym: "RAK" EXACT [] synonym: "RAPK" EXACT [] synonym: "Reticulate Pigmentation of Kitamura" EXACT [] synonym: "RPK" EXACT [] xref: MIM:615537 xref: ORDO:178307 is_a: DOID:0060256 ! Dowling-Degos disease [Term] id: DOID:0060259 name: renal-hepatic-pancreatic dysplasia def: "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO)" [http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17605805 "DO"] synonym: "Ivemark's syndrome" EXACT [] synonym: "RHPD" EXACT [] xref: MESH:C567142 xref: MIM:PS208540 xref: ORDO:294415 is_a: DOID:26 ! pancreas disease is_a: DOID:2975 ! cystic kidney disease is_a: DOID:409 ! liver disease is_a: DOID:758 ! situs inversus created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060260 name: ptosis def: "An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO"] synonym: "blepharoptoses" EXACT [] synonym: "blepharoptosis" EXACT [] synonym: "drooping eyelid" EXACT [] synonym: "Eyelid Ptoses" EXACT [] synonym: "eyelid ptosis" EXACT [] xref: ICD10CM:H02.4 xref: ICD9CM:374.3 xref: MESH:D001763 xref: NCI:C27298 is_a: DOID:530 ! eyelid disease [Term] id: DOID:0060261 name: congenital ptosis def: "A ptosis characterized by eyelid drop present at birth. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO", https://eyewiki.aao.org/Ptosis\,_Congenital "DO"] xref: ICD10CM:Q10.0 xref: ICD9CM:743.61 xref: NCI:C27049 is_a: DOID:0060260 ! ptosis is_a: DOID:0080015 ! physical disorder created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060262 name: gallbladder disease alt_id: RDO:0002740 def: "A gastrointestinal system disease that is located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Gallbladder_disease "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null "DO"] synonym: "gall bladder disease" EXACT [] synonym: "Gall Bladder Diseases" EXACT [] synonym: "gallbladder diseases" EXACT [] xref: EFO:0003832 xref: ICD10CM:K82.9 xref: ICD9CM:575.9 xref: MESH:D005705 xref: MIM:PS600803 xref: NCI:C34631 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:0060263 name: porencephaly def: "A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)" [https://en.wikipedia.org/wiki/Cerebral_softening "DO", https://en.wikipedia.org/wiki/Porencephaly "DO"] synonym: "ADT1P" EXACT [] synonym: "autosomal dominant porencephaly type 1" EXACT [] synonym: "congenital porencephaly" EXACT [] synonym: "developmental porencephaly" EXACT [] synonym: "encephaloclastic porencephaly" EXACT [] synonym: "Familial Porencephalic White Matter Disease" EXACT [] synonym: "Familial Porencephaly" EXACT [] synonym: "HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1" EXACT [] synonym: "Infantile Hemiplegia with Porencephaly" EXACT [] synonym: "POREN1" EXACT [] synonym: "porencephalies" EXACT [] synonym: "porencephaly 1" EXACT [] synonym: "porencephaly type 1" EXACT [] synonym: "post traumatic porencephaly" EXACT [] synonym: "T1P" EXACT [] xref: GARD:7430 xref: ICD10CM:Q04.6 xref: MESH:D065708 xref: ORDO:2940 is_a: DOID:10907 ! microcephaly is_a: DOID:9001684 ! Malformations of Cortical Development, Group III [Term] id: DOID:0060264 name: pontocerebellar hypoplasia def: "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)" [https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition "DO"] synonym: "congenital pontocerebellar hypoplasia" EXACT [] synonym: "HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA" NARROW [] synonym: "PCH" EXACT [] xref: GARD:10977 xref: MESH:C580383 xref: MIM:PS607596 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:0060265 name: pontocerebellar hypoplasia type 1A def: "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)" [https://www.omim.org/entry/607596 "DO"] synonym: "CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1" BROAD [] synonym: "DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS" RELATED [] synonym: "PCH1A" EXACT [] synonym: "pontocerebellar hypoplasia with anterior horn cell disease" EXACT [] synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" EXACT [] xref: MIM:607596 xref: ORDO:2254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0060266 name: pontocerebellar hypoplasia type 1B def: "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)" [https://www.omim.org/entry/614678 "DO"] synonym: "NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA" BROAD [] synonym: "PCH1B" EXACT [] xref: MIM:614678 xref: NCI:C190872 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0060267 name: pontocerebellar hypoplasia type 2A def: "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)" [https://www.omim.org/entry/277470 "DO"] synonym: "PCH2A" EXACT [] synonym: "Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy" EXACT [] synonym: "Volendam Neurodegenerative Disease" EXACT [] xref: GARD:3631 xref: MESH:C564738 xref: MIM:277470 xref: MONDO:0010190 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060268 name: pontocerebellar hypoplasia type 2B def: "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)" [https://www.omim.org/entry/612389 "DO"] synonym: "PCH2B" EXACT [] xref: MESH:C567325 xref: MIM:612389 xref: MONDO:0012890 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060269 name: pontocerebellar hypoplasia type 2C alt_id: MIM:612390 def: "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)" [https://www.omim.org/entry/612390 "DO"] synonym: "PCH2C" EXACT [] xref: MESH:C567324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060270 name: pontocerebellar hypoplasia type 2D def: "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)" [https://www.omim.org/entry/613811 "DO"] synonym: "CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE" EXACT [] synonym: "PCCA" EXACT [] synonym: "PCH2D" EXACT [] xref: MIM:613811 xref: ORDO:2524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060271 name: pontocerebellar hypoplasia type 2E def: "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 VPS53 gene. (DO)" [https://www.omim.org/entry/615851 "DO"] synonym: "PCH2E" EXACT [] xref: MIM:615851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060272 name: pontocerebellar hypoplasia type 3 alt_id: MIM:608027 def: "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)" [https://www.omim.org/entry/608027 "DO"] synonym: "cerebellar atrophy with progressive microcephaly" EXACT [] synonym: "CLAM" EXACT [] synonym: "PCH3" EXACT [] synonym: "PCH with optic atrophy" EXACT [] synonym: "PCLO-RELATED CONDITION" EXACT [] xref: GARD:10708 xref: MESH:C548072 xref: ORDO:97249 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060273 name: pontocerebellar hypoplasia type 4 alt_id: MIM:225753 def: "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)" [https://www.omim.org/entry/225753 "DO"] synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [] synonym: "olivopontocerebellar hypoplasia lethal type" EXACT [] synonym: "PCH4" EXACT [] synonym: "Young McKeever Squier syndrome" EXACT [] xref: GARD:343 xref: MESH:C536716 xref: ORDO:166063 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060274 name: pontocerebellar hypoplasia type 5 def: "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)" [https://www.omim.org/entry/610204 "DO"] synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [] synonym: "PCH5" EXACT [] xref: GARD:10709 xref: MESH:C537745 xref: MIM:610204 xref: MONDO:0012438 xref: ORDO:166068 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060275 name: pontocerebellar hypoplasia type 6 alt_id: MIM:611523 def: "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)" [https://www.omim.org/entry/611523 "DO"] synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [] synonym: "PCH6" EXACT [] synonym: "RARS2-RELATED CONDITION" EXACT [] xref: GARD:10710 xref: MESH:C548074 xref: ORDO:166073 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060276 name: pontocerebellar hypoplasia type 7 def: "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)" [https://www.omim.org/entry/614969 "DO", MIM:614969] synonym: "PCH7" EXACT [] xref: MIM:614969 xref: MONDO:0013993 xref: ORDO:284339 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060277 name: pontocerebellar hypoplasia type 8 def: "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)" [https://www.omim.org/entry/614961 "DO"] synonym: "PCH8" EXACT [] xref: MIM:614961 xref: ORDO:324569 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060278 name: pontocerebellar hypoplasia type 9 def: "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)" [https://www.omim.org/entry/615809 "DO"] synonym: "PCH9" EXACT [] xref: MIM:615809 xref: MONDO:0014351 xref: ORDO:369920 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060279 name: pontocerebellar hypoplasia type 10 alt_id: RDO:9001048 def: "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)" [https://www.omim.org/entry/615803 "DO"] synonym: "PCH10" EXACT [] xref: MIM:615803 xref: ORDO:411493 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060280 name: primary pigmented nodular adrenocortical disease def: "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2212318 "DO"] synonym: "PPNAD" EXACT [] xref: GARD:10906 xref: MIM:PS610489 xref: MONDO:0015999 xref: ORDO:189439 xref: ORDO:647772 is_a: DOID:3952 ! adrenal cortex disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060281 name: photosensitive epilepsy def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO)" [http://en.wikipedia.org/wiki/Photosensitive_epilepsy "DO"] synonym: "photogenic epilepsy" EXACT [] synonym: "photoparoxysmal response" EXACT [] synonym: "photosensitive epilepsies" EXACT [] synonym: "PSE" EXACT [] xref: GARD:5648 xref: MIM:PS132100 xref: ORDO:166409 xref: RDO:9004946 is_a: DOID:2548 ! reflex epilepsy is_a: DOID:3159 ! photosensitivity disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060282 name: persistent hyperplastic primary vitreous def: "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)" [https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous "DO"] synonym: "persistent fetal vasculature syndrome" EXACT [] synonym: "persistent hyaloid arteries" EXACT [] synonym: "Persistent Hyaloid Artery" EXACT [] synonym: "persistent hyaloid vasculature" EXACT [] synonym: "persistent hyaloid vasculatures" EXACT [] xref: MESH:D054514 xref: MIM:PS221900 xref: NCI:C161554 xref: ORDO:91495 is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9720 ! vitreous disease [Term] id: DOID:0060283 name: peeling skin syndrome def: "A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO)" [https://rarediseases.org/rare-diseases/peeling-skin-syndrome/ "DO"] synonym: "deciduous skin" EXACT [] synonym: "familial continuous generalized skin peeling" EXACT [] synonym: "familial continuous skin peeling syndrome" EXACT [] synonym: "keratolysis exfoliativa congenita" EXACT [] synonym: "keratosis exfoliativa congenita" EXACT [] synonym: "peeling skin disease" EXACT [] synonym: "PSS" EXACT [] xref: GARD:7347 xref: MESH:C564818 xref: MIM:PS270300 xref: ORDO:263543 xref: ORDO:817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9006215 ! Exfoliative Dermatitis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060284 name: paroxysmal nocturnal hemoglobinuria alt_id: MIM:615749 def: "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)" [https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria "DO"] synonym: "C5-RELATED CONDITION" BROAD [] synonym: "cold paroxysmal hemoglobinuria" EXACT [] synonym: "ECULIZUMAB, POOR RESPONSE TO" RELATED [] synonym: "Marchiafava Micheli Syndrome" EXACT [] synonym: "paroxysmal hemoglobinuria" EXACT [] xref: GARD:7337 xref: ICD10CM:D59.5 xref: ICD10CM:D59.6 xref: MESH:D006457 xref: MIM:PS300818 xref: NCI:C61233 xref: ORDO:447 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:582 ! hemoglobinuria [Term] id: DOID:0060285 name: parietal foramina def: "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)" [https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina "DO"] synonym: "Caitlin marks" EXACT [] synonym: "Catlin marks" EXACT [] synonym: "Cranium Bifidum, Hereditary" EXACT [] synonym: "Cranium Bifidum Occultum" EXACT [] synonym: "Enlarged Parietal Foramina" EXACT [] synonym: "foramina parietalia permagna" EXACT [] synonym: "FPP" EXACT [] synonym: "PFM" EXACT [] synonym: "symmetric parietal foramina" EXACT [] xref: MESH:C566826 xref: MIM:PS168500 xref: MONDO:0018953 xref: ORDO:60015 is_a: DOID:0080074 ! neural tube defect is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0060286 name: combined oxidative phosphorylation deficiency def: "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)" [https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency "DO"] xref: GARD:12893 xref: MIM:PS609060 is_a: DOID:700 ! mitochondrial metabolism disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060287 name: cornea plana def: "A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO)" [https://disorders.eyes.arizona.edu/handouts/cornea-plana "DO"] synonym: "flat cornea" EXACT [] xref: MIM:PS121400 xref: MONDO:0000733 xref: ORDO:53691 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0060288 name: omodysplasia def: "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12210345/ "DO"] xref: MIM:PS258315 xref: ORDO:2733 is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060289 name: Ohdo syndrome def: "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16700052/ "DO"] synonym: "Blepharophimosis Syndrome Ohdo Type" EXACT [] synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth" EXACT [] synonym: "Ohdo Blepharophimosis syndrome" EXACT [] synonym: "Ohdo Madokoro Sonoda syndrome" EXACT [] synonym: "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" EXACT [] xref: GARD:3348 xref: MESH:C536232 xref: MESH:C537838 xref: MIM:249620 xref: ORDO:2728 is_a: DOID:0060260 ! ptosis is_a: DOID:10348 ! blepharophimosis is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:0060290 name: Ohdo syndrome, SBBYS variant alt_id: MIM:603736 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/22077973/ "DO", https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes "DO"] synonym: "AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS" BROAD [] synonym: "blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type" EXACT [] synonym: "blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type" EXACT [] synonym: "BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "blepharophimosis-intellectual disability syndrome, SBBYS type" EXACT [] synonym: "KAT6B-RELATED SPECTRUM DISORDER" BROAD [] synonym: "KAT6B-RELATED SPECTRUM DISORDERS" BROAD [] synonym: "Mental retardation unusual facies hypothyroidism" EXACT [] synonym: "Ohdo Syndrome, Say-Barber-Biesecker Variant" EXACT [] synonym: "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant" EXACT [] synonym: "Say-Barber-Biesecker-Young-Simpson Syndrome" EXACT [] synonym: "Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome" EXACT [] synonym: "SBBYSS" EXACT [] synonym: "SBBYS variant of Ohdo syndrome" EXACT [] synonym: "Young Simpson syndrome" EXACT [] synonym: "YSS" EXACT [] xref: MESH:C536717 xref: ORDO:3047 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0060289 ! Ohdo syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:0060291 name: oculodentodigital dysplasia alt_id: MIM:164200 def: "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)" [http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia "DO", https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/12021949 "DO"] synonym: "oculo-dento-digital dysplasia" EXACT [] synonym: "Oculodentodigital Syndrome" EXACT [] synonym: "Oculo-Dento-Osseous Dysplasia" EXACT [] synonym: "Oculodentoosseous Dysplasia" EXACT [] synonym: "ODDD" EXACT [] synonym: "ODD Syndrome" EXACT [] synonym: "ODOD" EXACT [] synonym: "osseous-oculo-dental dysplasia" EXACT [] xref: GARD:7239 xref: MESH:C563160 xref: ORDO:2710 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0060292 name: X-linked chondrodysplasia punctata 1 alt_id: MIM:302950 alt_id: MIM:602497 def: "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)" [https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata "DO"] synonym: "arylsulfatase E deficiency" EXACT [] synonym: "Brachytelephalangic Chondrodysplasia Punctata" EXACT [] synonym: "brachytelephalangic chondrodysplasia punctata, autosomal" RELATED [] synonym: "CDPX1" EXACT [] synonym: "chondrodystrophia calcificans congenita" EXACT [] synonym: "CPXR" EXACT [] synonym: "X-linked recessive chondrodysplasia punctata 1" EXACT [] xref: ICD10CM:Q77.3 xref: MESH:C580533 xref: ORDO:35173 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2581 ! chondrodysplasia punctata created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060293 name: autosomal dominant chondrodysplasia punctata alt_id: MIM:118650 alt_id: RDO:0012576 def: "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)" [https://www.omim.org/entry/118650 "DO"] synonym: "chondrodysplasia punctata due to vitamin K deficiency" EXACT [] synonym: "chondrodysplasia punctata due to warfarin teratogenicity" EXACT [] xref: MESH:C563248 xref: ORDO:79344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:0060294 name: cold-induced sweating syndrome def: "A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO)" [http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome "DO"] synonym: "CISS" EXACT [] synonym: "CNTF receptor-related disorders" EXACT [] synonym: "cold-induced sweating" EXACT [] synonym: "Crisponi syndrome" EXACT [] synonym: "Sohar-Crisponi syndrome" EXACT [] synonym: "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death" EXACT [] xref: MESH:C536214 xref: MIM:PS272430 xref: ORDO:157820 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9000972 ! Fever is_a: DOID:9001487 ! Facies is_a: DOID:9004062 ! Hyperhidrosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006588 ! Trismus is_a: DOID:9007820 ! Sudden Death is_a: DOID:9008675 ! Dyskinesias created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060295 name: complement component 2 deficiency alt_id: RDO:0008253 def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency "DO"] synonym: "C2D" EXACT [] synonym: "C2 DEFICIENCY" EXACT [] synonym: "C2 DEFICIENCY, TYPE I" NARROW [] synonym: "C2 DEFICIENCY, TYPE II" NARROW [] synonym: "C2-RELATED DISORDER" BROAD [] xref: GARD:1452 xref: MIM:217000 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060296 name: congenital secretory chloride diarrhea 1 alt_id: MIM:214700 def: "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. (DO)" [https://omim.org/entry/214700 "DO"] synonym: "congenital chloride diarrhea" EXACT [] synonym: "congenital chloride diarrhea, Finnish type" EXACT [] synonym: "congenital chloride diarrhoea Finnish type" EXACT [] synonym: "congenital chloridorrhea" EXACT [] synonym: "congenital secretory chloride diarrhoea 1" EXACT [] synonym: "CONGENITAL SECRETORY DIARRHEA, CHLORIDE TYPE" EXACT [] synonym: "Darrow-Gamble disease" EXACT [] synonym: "DIAR1" EXACT [] synonym: "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL" EXACT [] synonym: "SLC26A3-RELATED CONDITION" EXACT [] xref: MESH:C536210 xref: ORDO:53689 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060297 name: complement component 4A deficiency alt_id: MIM:614380 def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO)" [https://www.omim.org/entry/614380 "DO"] synonym: "C4AD" EXACT [] synonym: "C4A Deficiency" EXACT [] xref: MESH:C565167 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060298 name: complement component 4B deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO)" [https://www.omim.org/entry/614379 "DO"] synonym: "C4BD" EXACT [] synonym: "C4B DEFICIENCY" EXACT [] xref: MIM:614379 xref: ORDO:169147 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060299 name: complement component 6 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)" [https://www.omim.org/entry/612446 "DO"] synonym: "C6D" EXACT [] synonym: "C6 Deficiency" EXACT [] synonym: "C6 deficiency, subtotal" NARROW [] synonym: "complement component 6 deficiency, subtotal" NARROW [] xref: MESH:C567307 xref: MIM:612446 xref: MONDO:0012908 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060300 name: complement component 7 deficiency alt_id: MIM:610102 def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO)" [https://www.omim.org/entry/610102 "DO"] synonym: "C7D" EXACT [] synonym: "C7 deficiency" EXACT [] synonym: "C7-RELATED CONDITION" EXACT [] xref: MESH:C566443 xref: ORDO:1695150 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060301 name: type I complement component 8 deficiency def: "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)" [https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO"] synonym: "C8AG DEFICIENCY" EXACT [] synonym: "C8 ALPHA-GAMMA DEFICIENCY" EXACT [] synonym: "C8D1" EXACT [] synonym: "C8 deficiency type I" EXACT [] synonym: "complement component 8, alpha subunit, A/B polymorphism" RELATED [] xref: MIM:613790 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060302 name: type II complement component 8 deficiency def: "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)" [https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO"] synonym: "C8B DEFICIENCY" EXACT [] synonym: "C8 BETA DEFICIENCY" EXACT [] synonym: "C8B-RELATED CONDITION" EXACT [] synonym: "C8D2" EXACT [] synonym: "C8 deficiency type II" EXACT [] synonym: "COMPLEMENT COMPONENT 8B DEFICIENCY" EXACT [] xref: MIM:613789 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060303 name: complement component 9 deficiency alt_id: MIM:613825 def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)" [https://www.omim.org/entry/613825 "DO"] synonym: "C9D" EXACT [] synonym: "C9 deficiency" EXACT [] synonym: "C9-RELATED CONDITION" BROAD [] xref: ICD10CM:D84.1 xref: MESH:C565165 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060304 name: dyschromatosis universalis hereditaria def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO)" [http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria "DO", https://www.ncbi.nlm.nih.gov/pubmed/12372090 "DO"] xref: GARD:1996 xref: MESH:C535730 xref: MIM:PS127500 xref: NCI:C173131 xref: ORDO:241 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060305 name: megalocornea alt_id: MIM:249300 alt_id: MIM:309300 def: "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)" [http://en.wikipedia.org/wiki/Megalocornea "DO", http://ghr.nlm.nih.gov/gene/CHRDL1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6849653 "DO"] synonym: "anterior megalophthalmos" EXACT [] synonym: "congenital anterior megalophthalmia" EXACT [] synonym: "ISOLATED CONGENITAL MEGALOCORNEA" NARROW [] synonym: "MGC1" EXACT [] synonym: "MGCN" EXACT [] synonym: "X-linked megalocornea 1" NARROW [] xref: MESH:C562829 xref: ORDO:91489 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10124 ! corneal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060306 name: Meier-Gorlin syndrome def: "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)" [http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome "DO", http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14564153 "DO"] synonym: "DONSON-RELATED MEIER-GORLIN SYNDROME" NARROW [] synonym: "ear, patella, short stature syndrome" EXACT [] synonym: "EPS" EXACT [] synonym: "microtia, absent patellae, micrognathia syndrome" EXACT [] xref: GARD:2033 xref: MESH:C538012 xref: MIM:PS224690 xref: ORDO:2554 is_a: DOID:225 ! syndrome is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0060307 name: autosomal dominant intellectual developmental disorder def: "A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21124998 "DO"] synonym: "autosomal dominant mental retardation" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability" EXACT [] synonym: "autosomal dominant non-syndromic mental retardation" EXACT [] xref: GARD:12107 xref: MIM:PS156200 xref: ORDO:178469 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060308 name: autosomal recessive intellectual developmental disorder def: "A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21124998 "DO"] synonym: "autosomal recessive mental retardation" EXACT [] synonym: "autosomal recessive non-syndromic intellectual disability" EXACT [] synonym: "autosomal recessive non-syndromic mental retardation" EXACT [] xref: MIM:PS249500 xref: ORDO:88616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060309 name: syndromic X-linked intellectual disability def: "A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/X-linked_intellectual_disability "DO"] synonym: "syndromic X-linked mental retardation" EXACT [] xref: MIM:PS309510 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060310 name: uvulitis def: "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO)" [http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation "DO", https://www.ncbi.nlm.nih.gov/pubmed/8285973 "DO"] synonym: "acute uvulitis" EXACT [] xref: ICD10CM:K12.2 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060311 name: adenoid hypertrophy def: "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)" [http://en.wikipedia.org/wiki/Adenoid_hypertrophy "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/21126775 "DO"] synonym: "adenoidal hypertrophy" EXACT [] synonym: "enlarged adenoids" EXACT [] xref: ICD10CM:J35.2 xref: ICD9CM:474.12 xref: RDO:9004969 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060312 name: angular cheilitis def: "A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO)" [http://en.wikipedia.org/wiki/Angular_cheilitis "DO"] synonym: "angular cheilosis" EXACT [] synonym: "angular stomatitis" EXACT [] synonym: "cheilosis" EXACT [] synonym: "commissural cheilitis" EXACT [] xref: NCI:C112198 is_a: DOID:1762 ! cheilitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060313 name: tracheomalacia def: "A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO)" [http://en.wikipedia.org/wiki/Tracheomalacia "DO"] synonym: "Chondromalacia of Trachea" EXACT [] synonym: "Congenital Tracheomalacia" EXACT [] synonym: "Trachea Chondromalacia" EXACT [] synonym: "Trachea Chondromalacias" EXACT [] synonym: "Tracheomalacias" EXACT [] synonym: "Type 1 tracheomalacia" EXACT [] xref: ICD10CM:Q32.0 xref: MESH:C557675 xref: MESH:D055090 xref: ORDO:95430 is_a: DOID:9003700 ! Tracheobronchomalacia [Term] id: DOID:0060314 name: persistent generalized lymphadenopathy def: "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)" [http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy "DO"] synonym: "PGL" EXACT [] xref: RDO:9003464 is_a: DOID:9004150 ! Lymphadenopathy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060315 name: oral hairy leukoplakia def: "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)" [http://en.wikipedia.org/wiki/Hairy_leukoplakia "DO"] synonym: "hairy leukoplakia" EXACT [] synonym: "hairy leukoplakias" EXACT [] synonym: "oral hairy leukoplakias" EXACT [] xref: EFO:1001360 xref: ICD10CM:K13.3 xref: MESH:D017733 xref: NCI:C3722 is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:403 ! mouth disease is_a: DOID:9655 ! oral mucosa leukoplakia [Term] id: DOID:0060316 name: orofaciodigital syndrome I alt_id: MIM:311200 def: "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)" [http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 "DO", https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance "DO"] synonym: "OFD1" EXACT [] synonym: "OFDS I" EXACT [] synonym: "oral-facial-digital syndrome, type 1" EXACT [] synonym: "oral facial digital syndrome, type I" EXACT [] synonym: "orofaciodigital syndrome 1" EXACT [] synonym: "orofaciodigital syndrome type1" EXACT [] synonym: "orofaciodigital syndrome type I" EXACT [] synonym: "Papillon-Leage and Psaume syndrome" EXACT [] synonym: "Papillon-Leage-Psaume syndrome" EXACT [] synonym: "Papillon-League-Psaume syndrome" EXACT [] xref: MESH:C537134 xref: NCI:C75481 xref: ORDO:2750 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060317 name: lung abscess def: "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)" [http://en.wikipedia.org/wiki/Lung_abscess "DO"] synonym: "lung abscesses" EXACT [] synonym: "Pulmonary Abscess" EXACT [] synonym: "pulmonary abscesses" EXACT [] xref: EFO:1001362 xref: ICD10CM:J85.2 xref: ICD9CM:513.0 xref: MESH:D008169 xref: NCI:C99090 is_a: DOID:850 ! lung disease is_a: DOID:9000325 ! Abscess is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:0060318 name: acute promyelocytic leukemia alt_id: MIM:612376 def: "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO)" [http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia "DO", http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia "DO"] synonym: "acute myeloblastic leukaemia type 3" EXACT [] synonym: "acute myeloblastic leukemia type 3" EXACT [] synonym: "acute myeloid leukaemia M3" EXACT [] synonym: "acute myeloid leukemia, M3" EXACT [] synonym: "acute promyelocytic leukaemia" EXACT [] synonym: "acute promyelocytic leukemias" EXACT [] synonym: "AML M3" EXACT [] synonym: "APL" EXACT [] synonym: "DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE" RELATED [] synonym: "M3 ANLL" EXACT [] synonym: "progranulocytic leukemia" EXACT [] xref: EFO:0000224 xref: GARD:538 xref: ICD10CM:C92.4 xref: MESH:D015473 xref: NCI:C3182 xref: ORDO:520 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0060319 name: cardiac arrest def: "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)" [http://en.wikipedia.org/wiki/Cardiac_arrest "DO", http://www.nlm.nih.gov/medlineplus/cardiacarrest.html "DO"] synonym: "Asystole" EXACT [] synonym: "asystoles" EXACT [] synonym: "Cardiopulmonary Arrest" EXACT [] synonym: "circulatory arrest" EXACT [] synonym: "heart arrest" EXACT [] xref: EFO:0009492 xref: ICD10CM:I46 xref: ICD9CM:427.5 xref: MESH:D006323 xref: NCI:C50479 xref: NCI:C50483 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:0060320 name: inguinal hernia def: "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO)" [http://en.wikipedia.org/wiki/Inguinal_hernia "DO"] synonym: "Direct Inguinal Hernia" EXACT [] synonym: "Direct Inguinal Hernias" EXACT [] synonym: "Indirect Inguinal Hernia" EXACT [] synonym: "Indirect Inguinal Hernias" EXACT [] synonym: "Inguinal Hernias" EXACT [] xref: ICD10CM:K40 xref: ICD10CM:K40.90 xref: ICD9CM:550 xref: MESH:D006552 xref: NCI:C34690 xref: NCI:C34691 xref: NCI:C34692 is_a: DOID:5295 ! intestinal disease is_a: DOID:9004681 ! Abdominal Hernia [Term] id: DOID:0060321 name: umbilical hernia def: "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO)" [http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 "DO", https://en.wikipedia.org/wiki/Umbilical_hernia "DO"] synonym: "Umbilical Hernias" EXACT [] xref: ICD10CM:Q79.2 xref: ICD9CM:756.72 xref: MESH:D006554 xref: NCI:C98997 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9006325 ! Ventral Hernia [Term] id: DOID:0060322 name: mastoiditis def: "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)" [http://en.wikipedia.org/wiki/Mastoiditis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm "DO"] synonym: "mastoiditides" EXACT [] xref: ICD10CM:H70.9 xref: ICD9CM:383.9 xref: MESH:D008417 xref: NCI:C128368 is_a: DOID:1019 ! osteomyelitis is_a: DOID:10754 ! otitis media [Term] id: DOID:0060323 name: breast abscess def: "A breast disease characterized by a collection of pus in the breast. (DO)" [http://en.wikipedia.org/wiki/Mastitis#Breast_abscess "DO"] is_a: DOID:3463 ! breast disease is_a: DOID:9000325 ! Abscess created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060324 name: dental abscess def: "A tooth disease characterized by a localized collection of pus associated with a tooth. (DO)" [http://en.wikipedia.org/wiki/Dental_abscess "DO"] xref: ICD10CM:K04.6 is_a: DOID:1091 ! tooth disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060325 name: cervical polyp def: "A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO)" [http://en.wikipedia.org/wiki/Cervical_polyp "DO"] xref: EFO:0009475 xref: ICD10CM:D26.9 xref: ICD9CM:219 is_a: DOID:2253 ! cervix disease [Term] id: DOID:0060326 name: myelomeningocele def: "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO)" [http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm "DO"] synonym: "acquired meningomyelocele" EXACT [] synonym: "acquired meningomyeloceles" EXACT [] synonym: "Acquired Myelomeningocele" EXACT [] synonym: "acquired myelomeningoceles" EXACT [] synonym: "meningomyelocele" EXACT [] synonym: "Meningomyeloceles" EXACT [] synonym: "myelocele" EXACT [] synonym: "myeloceles" EXACT [] synonym: "myelomeningoceles" EXACT [] xref: EFO:1001369 xref: ICD10CM:Q05 xref: MESH:D008591 xref: NCI:C101201 xref: NCI:C98874 is_a: DOID:0080016 ! spina bifida is_a: DOID:0080074 ! neural tube defect is_a: DOID:319 ! spinal cord disease [Term] id: DOID:0060327 name: omphalocele def: "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)" [http://en.wikipedia.org/wiki/Omphalocele "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm "DO"] synonym: "exomphalos" EXACT [] synonym: "omphalocoele" EXACT [] xref: ICD10CM:Q79.2 xref: ICD9CM:756.72 xref: MIM:164750 xref: MIM:310980 xref: MONDO:0019015 xref: NCI:C98997 xref: ORDO:660 is_a: DOID:0080015 ! physical disorder is_a: DOID:9005214 ! Anatomical Pathological Conditions created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060328 name: anal fistula def: "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO)" [http://en.wikipedia.org/wiki/Anal_fistula "DO"] synonym: "rectal fistula" EXACT [] xref: ICD10CM:K60.3 xref: MESH:D012003 is_a: DOID:1285 ! rectal disease is_a: DOID:9001015 ! Intestinal Fistula [Term] id: DOID:0060329 name: ectopic pregnancy def: "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO)" [http://en.wikipedia.org/wiki/Ectopic_pregnancy "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm "DO"] synonym: "eccyesis" EXACT [] synonym: "ectopic pregnancies" EXACT [] synonym: "extrauterine pregnancies" EXACT [] synonym: "extrauterine pregnancy" EXACT [] xref: GARD:6318 xref: ICD10CM:O00 xref: ICD9CM:633 xref: MESH:D011271 xref: NCI:C34945 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:0060330 name: Rapp-Hodgkin syndrome alt_id: MIM:129400 def: "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)" [http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1 "DO"] synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [] synonym: "ectodermal dysplasia, Rapp-Hodgkin type" EXACT [] synonym: "ectodermal dysplasia syndrome, Rapp-Hodgkin type" EXACT [] synonym: "nonsyndromic cleft lip with or without cleft palate, 8" NARROW [] synonym: "OFC8" NARROW [] synonym: "RHS" EXACT [] xref: GARD:5690 xref: MESH:C535289 xref: ORDO:3022 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060331 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 alt_id: MIM:614052 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)" [http://omim.org/entry/614052 "DO"] synonym: "MC5DN2" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, TMEM70 type" EXACT [] synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [] synonym: "nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2" EXACT [] xref: GARD:12965 xref: MESH:C567528 xref: ORDO:1194 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0060332 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20566710/ "DO"] synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX" EXACT [] synonym: "MC5DN3" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATP5E type" EXACT [] xref: MIM:614053 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0060333 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599390/ "DO", https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO"] synonym: "ATP5F1A-RELATED CONDITION" BROAD [] synonym: "MC5DN4" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATP5A1 type" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, encephalopathic, ATP5A1 type" EXACT [] is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0060334 name: transient neonatal diabetes mellitus def: "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)" [http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus "DO", https://www.ncbi.nlm.nih.gov/pubmed/17349054 "DO"] synonym: "autosomal recessive transient neonatal diabetes mellitus" NARROW [] synonym: "DMTN" EXACT [] synonym: "TNDM" EXACT [] synonym: "transient neonatal diabetes, dominant" NARROW [] synonym: "transient neonatal diabetes, dominant/recessive" NARROW [] synonym: "transient neonatal diabetes, recessive" NARROW [] xref: EFO:0020032 xref: EFO:0020040 xref: GARD:1839 xref: ORDO:99886 is_a: DOID:11717 ! neonatal diabetes created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060335 name: autosomal dominant sideroblastic anemia 4 alt_id: MIM:182170 def: "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/Sideroblastic_anemia "DO"] synonym: "SIDBA4" EXACT [] synonym: "sideroblastic anemia 4" EXACT [] xref: MESH:C567160 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060336 name: 3-methylglutaconic aciduria def: "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO)" [https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria "DO"] synonym: "3mga (3-Methylglutaconic Aciduria)" EXACT [] xref: ICD10CM:E71.111 xref: MESH:C579867 xref: MIM:PS250950 xref: ORDO:289902 is_a: DOID:0060159 ! organic acidemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060337 name: CEDNIK syndrome alt_id: MIM:609528 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/21073448 "DO"] synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [] synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" EXACT [] xref: MESH:C537943 xref: ORDO:66631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:0060338 name: parameningeal embryonal rhabdomyosarcoma def: "An embryonal rhabdomyosarcoma located in the parameningeal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10717216 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23021437 "DO"] is_a: DOID:3246 ! embryonal rhabdomyosarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060339 name: chronic atrial and intestinal dysrhythmia alt_id: RDO:9000750 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/25282101 "DO"] synonym: "CAID" EXACT [] synonym: "CAID syndrome" EXACT [] xref: MIM:616201 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:114 ! heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0060340 name: ciliopathy def: "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)" [http://en.wikipedia.org/wiki/Ciliopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/18178628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21210154 "DO"] synonym: "ciliopathies" EXACT [] xref: EFO:0003900 xref: MESH:D000072661 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060341 name: agnathia-otocephaly complex alt_id: MIM:202650 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17438667 "DO"] synonym: "agnathia-holoprosencephaly" EXACT [] synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [] synonym: "AGOTC" EXACT [] synonym: "dysgnathia complex" EXACT [] synonym: "dysgnathia complex, agnathia-holoprosencephaly" EXACT [] synonym: "otocephaly" EXACT [] xref: ICD10CM:Q18.2 xref: MESH:C537996 xref: MESH:C562503 xref: ORDO:990 is_a: DOID:0080015 ! physical disorder is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9000066 ! Jaw Abnormalities [Term] id: DOID:0060342 name: acromelic frontonasal dysostosis alt_id: MIM:603671 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/15264282 "DO"] synonym: "AFND" EXACT [] synonym: "ZSWIM6-RELATED CONDITION" BROAD [] xref: GARD:5539 xref: MESH:C566345 xref: ORDO:1827 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060343 name: glucocorticoid-induced osteoporosis def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17566815 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22870429 "DO"] synonym: "steroid-induced osteoporosis" RELATED [] xref: RDO:9002014 is_a: DOID:11476 ! osteoporosis created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0060344 name: acrodermatitis chronica atrophicans def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO)" [http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans "DO", http://www.dermis.net/dermisroot/en/35111/diagnose.htm "DO"] synonym: "Herxheimer disease" EXACT [] synonym: "primary diffuse atrophy" EXACT [] xref: EFO:1000665 xref: ICD9CM:701.8 is_a: DOID:2722 ! acrodermatitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060345 name: bacillary angiomatosis def: "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)" [http://en.wikipedia.org/wiki/Bacillary_angiomatosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/9407154 "DO"] synonym: "bacillary angiomatoses" EXACT [] synonym: "Bacillary Epithelioid Angiomatoses" EXACT [] synonym: "Bacillary Epithelioid Angiomatosis" EXACT [] synonym: "Epithelioid Angiomatoses" EXACT [] synonym: "epithelioid angiomatosis" EXACT [] xref: MESH:D016917 xref: NCI:C3477 is_a: DOID:11102 ! bartonellosis is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9004079 ! Angiomatosis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:0060346 name: Native American myopathy def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/18553514 "DO"] synonym: "Bailey-Bloch congenital myopathy" EXACT [] synonym: "Baily-Bloch congenital myopathy" EXACT [] synonym: "CMYO13" EXACT [] synonym: "CMYP13" EXACT [] synonym: "congenital myopathy 13" EXACT [] synonym: "congenital myopathy cleft palate and malignant hyperthermia" EXACT [] synonym: "congenital myopathy, with cleft palate and malignant hyperthermia" EXACT [] synonym: "congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia" EXACT [] synonym: "MYPBB" EXACT [] synonym: "NAM" EXACT [] xref: GARD:8432 xref: MESH:C538343 xref: MIM:255995 xref: MONDO:0009722 xref: ORDO:168572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:2106 ! myotonia congenita is_a: DOID:674 ! cleft palate is_a: DOID:8545 ! malignant hyperthermia [Term] id: DOID:0060347 name: acrorenal syndrome alt_id: MIM:102520 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/26019842 "DO"] xref: MESH:C563159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0060348 name: hypoparathyroidism-retardation-dysmorphism syndrome alt_id: MIM:241410 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/15645691 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24339556 "DO"] synonym: "congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay" EXACT [] synonym: "HRDS" EXACT [] synonym: "HRD syndrome" EXACT [] synonym: "Hypoparathyroidism with short stature, mental retardation, and seizures" EXACT [] synonym: "Sanjad-Sakati syndrome" EXACT [] xref: GARD:411 xref: MESH:C537157 xref: NCI:C133727 xref: ORDO:2323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060349 name: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation alt_id: MIM:152950 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/10482868 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11302131 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124931 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5936364 "DO"] synonym: "CDMMR syndrome" EXACT [] synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT [] synonym: "KIF11-RELATED CONDITION" EXACT [] synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [] synonym: "lymphedema and retinal folds with microcephaly and microphthalmos" EXACT [] synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [] synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" EXACT [] synonym: "MCLMR" EXACT [] synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" EXACT [] synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [] synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [] synonym: "microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development" EXACT [] synonym: "MLCRD syndrome" EXACT [] xref: MESH:C537711 xref: ORDO:2526 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:9001487 ! Facies is_a: DOID:9006597 ! Retinal Dysplasia [Term] id: DOID:0060350 name: adenine phosphoribosyltransferase deficiency alt_id: MIM:614723 def: "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)" [http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency "DO", https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/22700886/ "DO", https://pubmed.ncbi.nlm.nih.gov/8864750/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20150536 "DO"] synonym: "2,8-Dihydroxyadenine Urolithiasis" EXACT [] synonym: "2,8-Dihydroxyadeninuria" EXACT [] synonym: "APRTD" EXACT [] synonym: "APRT Deficiency" EXACT [] synonym: "DHA Crystalline Nephropathy" EXACT [] synonym: "Nephrolithiasis, DHA" EXACT [] synonym: "Urolithiasis, DHA" EXACT [] xref: GARD:10666 xref: GARD:546 xref: MESH:C538228 xref: NCI:C121564 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080653 ! urolithiasis is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:0060351 name: mitochondrial complex III deficiency nuclear type 2 def: "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)" [http://www.omim.org/entry/615157 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21278747 "DO"] synonym: "MC3DN2" EXACT [] xref: MIM:615157 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0060352 name: Kleefstra syndrome 1 alt_id: DOID:0070075 alt_id: MIM:610253 def: "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)" [https://en.wikipedia.org/wiki/9q34_deletion_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15264279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16826528 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21245904 "DO"] synonym: "9q34.3 deletion syndrome" EXACT [] synonym: "9q34.3 microdeletion syndrome" EXACT [] synonym: "9q34 deletion syndrome" EXACT [] synonym: "9q subtelomeric deletion syndrome" EXACT [] synonym: "9q- syndrome" EXACT [] synonym: "chromosome 9q34.3 deletion syndrome" EXACT [] synonym: "chromosome 9Q deletion syndrome" EXACT [] synonym: "EHMT1-RELATED CONDITION" EXACT [] xref: GARD:8672 xref: MESH:C563043 xref: ORDO:261494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:0080597 ! Kleefstra syndrome [Term] id: DOID:0060353 name: acrofacial dysostosis Cincinnati type def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/25913037 "DO"] synonym: "AFDCIN" EXACT [] synonym: "Cincinnati type of acrofacial dysostosis" EXACT [] synonym: "POLR1A-RELATED CONDITION" BROAD [] xref: MIM:616462 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060354 name: Stormorken syndrome alt_id: MIM:185070 def: "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)" [http://ghr.nlm.nih.gov/condition/stormorken-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/24619930 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25577287 "DO"] synonym: "thrombocytopathy, asplenia, and miosis" EXACT [] xref: MESH:C566108 xref: ORDO:3204 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis is_a: DOID:2218 ! blood platelet disease is_a: DOID:225 ! syndrome is_a: DOID:4428 ! dyslexia is_a: DOID:6364 ! migraine is_a: DOID:9003165 ! Miosis [Term] id: DOID:0060355 name: amyotrophic lateral sclerosis type 22 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO)" [http://omim.org/entry/616208 "DO"] synonym: "ALS 22" EXACT [] synonym: "ALS22" EXACT [] synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 22" EXACT [] synonym: "amyotrophic lateral sclerosis 22 with frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [] xref: MIM:616208 xref: MONDO:0014531 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060356 name: Vici syndrome alt_id: MIM:242840 def: "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)" [https://en.wikipedia.org/wiki/Vici_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21965116 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23222957 "DO"] synonym: "Absent Corpus Callosum Cataract Immunodeficiency" EXACT [] synonym: "EPG5-RELATED CONDITION" EXACT [] synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [] synonym: "VICIS" EXACT [] xref: GARD:448 xref: MESH:C535566 xref: MONDO:0009452 xref: NCI:C138174 xref: ORDO:1493 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0060357 name: chylomicron retention disease alt_id: MIM:246700 def: "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)" [https://en.wikipedia.org/wiki/Chylomicron_retention_disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/10521380 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20920215 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3430059 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3792776 "DO"] synonym: "ANDD" EXACT [] synonym: "Anderson disease" EXACT [] synonym: "Anderson Syndrome" EXACT [] synonym: "CMRD" EXACT [] synonym: "Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells" EXACT [] synonym: "lipid transport defect of intestine" EXACT [] xref: GARD:9683 xref: MESH:C535460 xref: ORDO:71 is_a: DOID:1390 ! hypobetalipoproteinemia is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0060358 name: multiple acyl-CoA dehydrogenase deficiency alt_id: MIM:231680 def: "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)" [http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii "DO", https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22580358 "DO"] synonym: "electron transfer flavoprotein alpha subunit deficiency" NARROW [] synonym: "Electron Transfer Flavoprotein Beta Subunit Deficiency" NARROW [] synonym: "Electron Transfer Flavoprotein Deficiency" EXACT [] synonym: "Electron Transfer Flavoprotein Dehydrogenase Deficiency" NARROW [] synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [] synonym: "EMA GLUTARIC ACIDEMIA IIA" NARROW [] synonym: "ETFA deficiencies" NARROW [] synonym: "ETFA DEFICIENCY" NARROW [] synonym: "ETFB Deficiencies" NARROW [] synonym: "ETFB DEFICIENCY" NARROW [] synonym: "ETFDH Deficiencies" NARROW [] synonym: "ETFDH DEFICIENCY" NARROW [] synonym: "ETHYLMALONIC-ADIPICACIDURIA" EXACT [] synonym: "Ethylmalonic Adipic Aciduria" EXACT [] synonym: "Ethylmalonic-Adipic Acidurias" EXACT [] synonym: "GA II" NARROW [] synonym: "GLUTARIC ACIDEMIA II" NARROW [] synonym: "GLUTARIC ACIDEMIA IIB" NARROW [] synonym: "GLUTARIC ACIDEMIA IIC" NARROW [] synonym: "GLUTARIC ACIDEMIA IIC, LATE-ONSET" NARROW [] synonym: "Glutaric Acidemia, Type 2" NARROW [] synonym: "GLUTARIC ACIDEMIA TYPE 2C" NARROW [] synonym: "Glutaric Acidemia Type II" NARROW [] synonym: "Glutaric Aciduria II" NARROW [] synonym: "Glutaric Aciduria IIA" NARROW [] synonym: "Glutaric Aciduria IIB" NARROW [] synonym: "Glutaric Aciduria IIC" NARROW [] synonym: "Glutaric Aciduria Type 2" NARROW [] synonym: "Glutaric Aciduria Type II" NARROW [] synonym: "MADD" EXACT [] synonym: "MADD (multiple acyl-CoA dehydrogenase deficiency)" EXACT [] synonym: "MAD deficiency" EXACT [] synonym: "MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE" NARROW [] synonym: "multiple FAD dehydrogenase deficiency" EXACT [] xref: ICD10CM:E71.313 xref: MESH:D054069 xref: NCI:C84907 xref: ORDO:26791 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060359 name: Sakati-Nyhan syndrome alt_id: MIM:101120 def: "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)" [https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome "DO"] synonym: "ACPS III" EXACT [] synonym: "ACPS with leg hypoplasia" EXACT [] synonym: "acrocephalopolysyndactyly type 3" EXACT [] synonym: "acrocephalopolysyndactyly type III" EXACT [] synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [] synonym: "Sakati syndrome" EXACT [] xref: GARD:115 xref: MESH:C537227 xref: ORDO:3128 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome [Term] id: DOID:0060360 name: hereditary papulotranslucent acrokeratoderma alt_id: MIM:101840 alt_id: RDO:0014709 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16409913 "DO"] xref: EFO:1000708 xref: MESH:C566323 is_a: DOID:161 ! keratosis is_a: DOID:869 ! cholesteatoma is_a: DOID:9003842 ! Foot Dermatoses [Term] id: DOID:0060361 name: punctate palmoplantar keratoderma def: "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)" [https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate "DO"] synonym: "punctate keratosis palmoplantaris" RELATED [] synonym: "punctate palmoplantar hyperkeratosis" EXACT [] xref: ORDO:307967 is_a: DOID:3390 ! palmoplantar keratosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060362 name: punctate palmoplantar keratoderma type III def: "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)" [https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i "DO"] synonym: "acrokeratoelastoidosis of Costa" EXACT [] synonym: "collagenous plaques of hand and feet" EXACT [] synonym: "collagenous plaques of hands and feet" EXACT [] synonym: "palmoplantar keratoderma, punctate type 3" EXACT [] synonym: "PPKP3" EXACT [] synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [] xref: EFO:1000758 xref: MESH:C535653 xref: MIM:101850 xref: MONDO:0007047 xref: ORDO:38 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0060363 name: glycerol kinase deficiency def: "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)" [https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/22427807 "DO"] synonym: "DEFICIENCY OF GLYCEROL KINASE" EXACT [] synonym: "GK1 deficiency" EXACT [] synonym: "GKD" EXACT [] synonym: "GK deficiency" EXACT [] synonym: "GK-RELATED CONDITION" EXACT [] synonym: "hyperglycerolemia" EXACT [] xref: MIM:307030 xref: NCI:C124845 xref: ORDO:408 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0060364 name: Galloway-Mowat syndrome 1 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO)" [https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/26123727/ "DO"] synonym: "autosomal recessive spinocerebellar ataxia 5" EXACT [] synonym: "Galloway syndrome" EXACT [] synonym: "GAMOS1" EXACT [] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] synonym: "nephrosis-microcephaly syndrome" EXACT [] synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [] synonym: "SCAR5" EXACT [] synonym: "WDR73-RELATED CONDITION" EXACT [] xref: MIM:251300 xref: MONDO:0033005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: gthayman creation_date: 2019-03-13T00:00:00Z [Term] id: DOID:0060365 name: mandibulofacial dysostosis with alopecia def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25772936 "DO"] synonym: "MFDA" EXACT [] xref: MIM:616367 is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis is_a: DOID:987 ! alopecia created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:0060366 name: Hennekam syndrome def: "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)" [http://ghr.nlm.nih.gov/condition/hennekam-syndrome "DO", https://en.wikipedia.org/wiki/Hennekam_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14564208 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24870712 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2624276 "DO"] synonym: "generalized lymphatic dysplasia" EXACT [] synonym: "Hennekam Lymphangiectasia Lymphedema Syndrome" EXACT [] synonym: "Lymphangiectasies and lymphedema Hennekam type" EXACT [] synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT [] synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [] xref: GARD:3318 xref: MESH:C537255 xref: MIM:PS235510 xref: ORDO:2136 is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:75 ! lymphatic system disease is_a: DOID:9005821 ! Intestinal Lymphangiectasis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060367 name: Parkinson's disease 1 alt_id: MIM:168601 def: "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO)" [http://www.omim.org/entry/168601 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "atypical Parkinson's disease" EXACT [] synonym: "atypical Parkinson disease" EXACT [] synonym: "autosomal dominant Parkinson's disease" EXACT [] synonym: "autosomal dominant Parkinson's disease 1" EXACT [] synonym: "autosomal dominant Parkinson's disease 1, Lewy body" EXACT [] synonym: "autosomal dominant Parkinson disease" EXACT [] synonym: "autosomal dominant Parkinson disease 1" EXACT [] synonym: "familial Parkinson's disease, type 1" EXACT [] synonym: "Lewy Body Parkinsonism" EXACT [] synonym: "PARK1" EXACT [] synonym: "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY" EXACT [] synonym: "Parkinson Disease, Familial, Type 1" EXACT [] xref: MESH:C566823 xref: NCI:C198602 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060368 name: Parkinson's disease 2 alt_id: MIM:600116 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive juvenile Parkinson's disease 2" EXACT [] synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT [] synonym: "autosomal recessive Parkinson disease, early onset" EXACT [] synonym: "early onset Parkinsonism with diurnal fluctuation" EXACT [] synonym: "PARK2" EXACT [] synonym: "Parkinson disease 2" EXACT [] synonym: "young-onset Parkinson disease" EXACT [] xref: NCI:C198603 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060369 name: Parkinson's disease 6 alt_id: MIM:605909 def: "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 6" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT [] synonym: "early-onset Parkinson disease 6" EXACT [] synonym: "PARK6" EXACT [] synonym: "PARKINSON'S DISEASE 6, EARLY-ONSET" NARROW [] synonym: "PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO" NARROW [] synonym: "PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1" NARROW [] synonym: "Parkinson disease 6" EXACT [] synonym: "PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO" NARROW [] synonym: "PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1" NARROW [] synonym: "PINK1-related parkinsonism" EXACT [] xref: MESH:C565276 xref: NCI:C184990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0060370 name: Parkinson's disease 7 alt_id: MIM:606324 def: "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 7" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT [] synonym: "PARK7" EXACT [] synonym: "Parkinson disease 7" EXACT [] xref: MESH:C565238 xref: NCI:C198606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060371 name: Parkinson's disease 8 alt_id: MIM:607060 def: "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal dominant Parkinson's disease 8" EXACT [] synonym: "autosomal dominant Parkinson disease 8" EXACT [] synonym: "LRRK2-RELATED CONDITION" EXACT [] synonym: "PARK8" EXACT [] synonym: "Parkinson disease 8" EXACT [] xref: MESH:C564631 xref: NCI:C198605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060372 name: Parkinson's disease 15 alt_id: MIM:260300 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 15" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [] synonym: "pallido-pyramidal disease" EXACT [] synonym: "Pallidopyramidal Syndrome" EXACT [] synonym: "pallido-pyramidal syndrome" EXACT [] synonym: "PARK15" EXACT [] synonym: "Parkinson's disease 15, autosomal recessive" EXACT [] synonym: "PARKINSON DISEASE 15" EXACT [] synonym: "Parkinson Disease 15, Autosomal Recessive" EXACT [] synonym: "parkinsonian-pyramidal syndrome" EXACT [] synonym: "PKPS" EXACT [] xref: MESH:C538104 xref: NCI:C198607 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:225 ! syndrome is_a: DOID:529 ! blepharospasm [Term] id: DOID:0060373 name: orofaciodigital syndrome III alt_id: MIM:258850 def: "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 "DO"] synonym: "brachydactyly of the hands and feet with duplication of the first toes" EXACT [] synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [] synonym: "OFDS III" EXACT [] synonym: "oral-facial-digital syndrome 3" EXACT [] synonym: "oral-facial-digital syndrome, type III" EXACT [] synonym: "orofaciodigital syndrome 3" EXACT [] synonym: "Sugarman syndrome" EXACT [] xref: MESH:C557817 xref: ORDO:2752 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060374 name: orofaciodigital syndrome IV alt_id: MIM:258860 def: "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)" [https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 "DO"] synonym: "Baraitser-Burn syndrome" EXACT [] synonym: "Mohr-Majewski Syndrome" EXACT [] synonym: "OFD4" EXACT [] synonym: "OFDS IV" EXACT [] synonym: "OFD Syndrome, Baraitser-Burn Type" EXACT [] synonym: "OFD syndrome with tibial defects" EXACT [] synonym: "oral-facial-digital syndrome, type IV" EXACT [] synonym: "orofacial-digital syndrome IV" EXACT [] synonym: "orofaciodigital syndrome 4" EXACT [] synonym: "orofaciodigital syndrome with tibial dysplasia" EXACT [] xref: MESH:C537133 xref: ORDO:2753 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060375 name: orofaciodigital syndrome V alt_id: MIM:174300 def: "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)" [https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23972372 "DO"] synonym: "OFD5" EXACT [] synonym: "OFDS V" EXACT [] synonym: "oral-facial-digital syndrome 5" EXACT [] synonym: "oral-facial-digital syndrome, type V" EXACT [] synonym: "orofaciodigital syndrome 5" EXACT [] synonym: "orofaciodigital syndrome Thurston type" EXACT [] synonym: "postaxial polydactyly with median cleft of upper lip" EXACT [] synonym: "Thurston syndrome" EXACT [] xref: MESH:C557819 xref: ORDO:2919 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060376 name: Joubert syndrome with orofaciodigital defect alt_id: MIM:277170 def: "A Joubert syndrome that is characterized by orofaciodigital defect. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716954 "DO"] synonym: "CPLANE1-RELATED CONDITION" BROAD [] synonym: "OFD6" EXACT [] synonym: "OFDS VI" EXACT [] synonym: "oral-facial-digital syndrome, type 6" EXACT [] synonym: "Oral-Facial-Digital Syndrome, Type VI" EXACT [] synonym: "Orofaciodigital syndrome 6" EXACT [] synonym: "Orofaciodigital Syndrome VI" EXACT [] synonym: "Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation" EXACT [] synonym: "polydactyly, cleft lip palate, psychomotor retardation" EXACT [] synonym: "Varadi Papp syndrome" EXACT [] synonym: "Varadi syndrome" EXACT [] xref: GARD:4412 xref: MESH:C536531 xref: NCI:C124841 xref: ORDO:2754 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060377 name: orofaciodigital syndrome VII alt_id: MIM:608518 def: "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://omim.org/entry/608518 "DO"] synonym: "OFD7" EXACT [] synonym: "OFDS VII" EXACT [] synonym: "oral-facial-digital syndrome, type VII" EXACT [] synonym: "orofaciodigital syndrome 7" EXACT [] synonym: "Whelan syndrome" EXACT [] xref: MESH:C563104 xref: ORDO:90649 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060378 name: orofaciodigital syndrome VIII alt_id: MIM:300484 def: "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)" [https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8 "DO"] synonym: "OFD8" EXACT [] synonym: "OFDS 8" EXACT [] synonym: "OFDS VIII" EXACT [] synonym: "OFD syndrome 8" EXACT [] synonym: "oral-facial-digital syndrome 8" EXACT [] synonym: "oral-facial-digital syndrome, Edwards type" EXACT [] synonym: "oral-facial-digital syndrome type 8" EXACT [] synonym: "oral-facial-digital syndrome with hypoplastic epiglottis" EXACT [] synonym: "orofaciodigital syndrome 8" EXACT [] synonym: "orofaciodigital syndrome, Edwards type" EXACT [] xref: GARD:4060 xref: MESH:C557820 xref: ORDO:2755 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060379 name: acrofacial dysostosis def: "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)" [https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis "DO"] is_a: DOID:1934 ! dysostosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060380 name: orofaciodigital syndrome X alt_id: MIM:165590 def: "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)" [https://omim.org/entry/165590 "DO"] synonym: "OFD10" EXACT [] synonym: "oral-facial-digital syndrome, type X" EXACT [] synonym: "Oral-Facial-Digital Syndrome with Fibular Aplasia" EXACT [] synonym: "orofaciodigital syndrome 10" EXACT [] synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [] xref: MESH:C563491 xref: ORDO:2756 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060381 name: orofaciodigital syndrome XI alt_id: MIM:612913 def: "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)" [https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 "DO"] synonym: "Gabrielli syndrome" EXACT [] synonym: "OFD11" EXACT [] synonym: "OFDS XI" EXACT [] synonym: "oral-facial-digital syndrome 11" EXACT [] synonym: "Oral-Facial-Digital Syndrome, Type XI" EXACT [] synonym: "Oral-Facial-Digital Syndrome with Skeletal Anomalies" EXACT [] synonym: "orofaciodigital syndrome 11" EXACT [] xref: MESH:C557821 xref: ORDO:141000 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060382 name: orofaciodigital syndrome IX alt_id: MIM:258865 def: "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)" [https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18000902 "DO"] synonym: "OFD9" EXACT [] synonym: "OFDS IX" EXACT [] synonym: "oral-facial-digital syndrome 9" EXACT [] synonym: "oral facial digital syndrome, type IX" EXACT [] synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [] synonym: "orofaciodigital syndrome 9" EXACT [] synonym: "orofaciodigital syndrome, type 9" EXACT [] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [] xref: GARD:10520 xref: MESH:C557818 xref: ORDO:141007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060383 name: acrofacial dysostosis Rodriguez type alt_id: MIM:201170 alt_id: RDO:0004126 def: "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)" [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type "DO"] synonym: "Acrofacial Dysostosis Syndrome Of Rodriguez" EXACT [] synonym: "Rodriguez lethal acrofacial dysostosis syndrome" EXACT [] xref: GARD:496 xref: MESH:C538183 xref: ORDO:1788 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060384 name: acrofacial dysostosis, Catania type alt_id: MIM:101805 alt_id: RDO:0004125 def: "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)" [https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type "DO"] synonym: "Acrofacial Dysostosis Catania Form" EXACT [] synonym: "Opitz-Caltabiano syndrome" EXACT [] synonym: "Opitz Mollica Sorge syndrome" EXACT [] xref: GARD:494 xref: MESH:C538182 xref: ORDO:1786 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9007917 ! Supernumerary Tooth is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060385 name: acrofacial dysostosis, Patagonia type alt_id: MIM:601829 alt_id: RDO:0004128 def: "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)" [https://omim.org/entry/601829 "DO"] synonym: "Palagonia type of acrofacial dysostosis" EXACT [] xref: MESH:C538185 xref: ORDO:1787 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007917 ! Supernumerary Tooth is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060386 name: Chilblain lupus def: "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)" [https://www.omim.org/entry/610448 "DO"] synonym: "CHILBLAIN LUPUS ERYTHEMATOSUS" EXACT [] xref: MIM:PS610448 xref: ORDO:90280 is_a: DOID:0050169 ! cutaneous lupus erythematosus created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060387 name: chondrodysplasia Blomstrand type alt_id: MIM:215045 def: "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)" [https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type "DO"] synonym: "Blomstrand lethal chondrodysplasia" EXACT [] synonym: "Blomstrand lethal osteochondrodysplasia" EXACT [] synonym: "Blomstrand osteochondrodysplasia" EXACT [] synonym: "Blomstrand syndrome" EXACT [] synonym: "BOCD" EXACT [] synonym: "lethal congenital dwarfism with accelerated skeletal maturation" EXACT [] xref: GARD:914 xref: MESH:C537914 xref: NCI:C131420 xref: ORDO:50945 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0060388 name: chromosomal deletion syndrome def: "A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)" [https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome "DO", https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK23758/ "DO"] synonym: "chromosome deletion syndrome" EXACT [] is_a: DOID:225 ! syndrome is_a: DOID:9008165 ! Chromosome Deletion created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060389 name: chromosome 10q23 deletion syndrome alt_id: MIM:612242 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/21248748 "DO"] xref: MESH:C567385 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9001441 ! Adenomatous Polyps [Term] id: DOID:0060390 name: distal 10q deletion syndrome alt_id: MIM:609625 alt_id: RDO:0015324 def: "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)" [https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion "DO"] synonym: "chromosome 10q26 deletion syndrome" EXACT [] synonym: "distal monosomy 10q" EXACT [] synonym: "monosomy 10qter" EXACT [] synonym: "telomeric deletion 10q" EXACT [] synonym: "Terminal Chromosome 10q26 Deletion Syndrome" EXACT [] xref: MESH:C567182 xref: ORDO:96148 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:8927 ! learning disability is_a: DOID:9001487 ! Facies [Term] id: DOID:0060391 name: chromosome 13q14 deletion syndrome def: "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)" [https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/ "DO"] synonym: "deletion 13q14" EXACT [] xref: MIM:613884 xref: ORDO:1587 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:768 ! retinoblastoma is_a: DOID:9007657 ! Chromosome 13q Deletion Syndrome is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060392 name: chromosome 14q11-q22 deletion syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/21744488 "DO"] synonym: "14q11.2 microdeletion syndrome" EXACT [] synonym: "Zahir-Friedman syndrome" EXACT [] xref: MIM:613457 xref: ORDO:261120 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060393 name: chromosome 15q11.2 deletion syndrome alt_id: MIM:615656 def: "A chromosomal deletion syndrome that is characterized by intellectual disbaility, 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)" [https://www.omim.org/entry/615656 "DO"] synonym: "15q11.2 microdeletion" EXACT [] synonym: "15q11.2 microdeletion syndrome" EXACT [] synonym: "chromosome 15q11-q13 duplication syndrome" EXACT [] synonym: "duplication 15q11-q13 syndrome" EXACT [] xref: MESH:C557830 xref: ORDO:261183 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0060394 name: chromosome 15q13.3 microdeletion syndrome alt_id: MIM:612001 def: "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)" [https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome "DO"] synonym: "15q13.3 microdeletion" EXACT [] synonym: "15q13.3 microdeletion syndrome" EXACT [] synonym: "chromosome 15q13.3 deletion syndrome" EXACT [] xref: GARD:10296 xref: MESH:C567439 xref: ORDO:199318 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy [Term] id: DOID:0060395 name: chromosome 15q24 deletion syndrome alt_id: MIM:613406 def: "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)" [https://www.omim.org/entry/613406 "DO"] synonym: "15q24 deletion" EXACT [] synonym: "15q24 microdeletion" EXACT [] synonym: "15q24 microdeletion syndrome" EXACT [] synonym: "interstitial deletion of chromosome 15q24" EXACT [] synonym: "SIN3A-RELATED CONDITION" EXACT [] synonym: "SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "WITKOS" EXACT [] synonym: "Witteveen-Kolk syndrome" EXACT [] xref: GARD:12219 xref: MESH:C579849 xref: ORDO:94065 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0060396 name: chromosome 15q25 deletion syndrome def: "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)" [https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion "DO"] xref: MIM:614294 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060397 name: chromosome 15q26-qter deletion syndrome alt_id: MIM:612626 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/18651844 "DO"] synonym: "15q26 deletion syndrome" EXACT [] synonym: "distal 15q deletion syndrome" EXACT [] synonym: "distal monosomy 15q" EXACT [] synonym: "Drayer Syndrome" EXACT [] synonym: "telomeric 15q deletion syndrome" EXACT [] xref: MESH:C567232 xref: ORDO:1596 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060398 name: chromosome 16p11.2 deletion syndrome, 220-kb def: "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)" [https://pubmed.ncbi.nlm.nih.gov/20808231 "DO"] synonym: "chromosome 16p11.2 deletion syndrome" EXACT [] synonym: "distal 16p11.2 microdeletion syndrome" EXACT [] xref: MIM:613444 xref: NCI:C120408 xref: ORDO:261222 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060399 name: chromosome 16p12.1 deletion syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20154674 "DO"] synonym: "chromosome 16p12.1 deletion syndrome, 520kb" EXACT [] xref: MIM:136570 xref: NCI:C129875 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060400 name: chromosome 16p12.2-p11.2 deletion syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/19449418 "DO"] synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [] synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [] xref: MIM:613604 xref: ORDO:261211 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060401 name: chromosome 16q22 deletion syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/1605249 "DO"] xref: MIM:614541 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060402 name: chromosome 17p13.1 deletion syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/19617690 "DO"] xref: GARD:10996 xref: MIM:613776 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:92 ! speech disorder [Term] id: DOID:0060403 name: chromosome 17q11.2 deletion syndrome alt_id: MIM:613675 alt_id: MIM:614192 def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10631140/ "DO"] synonym: "17q11 microdeletion syndrome" EXACT [] synonym: "chromosome 17q11.2 deletion syndrome, 1.4Mb" EXACT [] synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT [] synonym: "macrocephaly, macrosomia, facial dysmorphism syndrome" EXACT [] synonym: "MMFD" EXACT [] synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [] synonym: "NF1 microdeletion syndrome" EXACT [] synonym: "Van Asperen syndrome" EXACT [] xref: ICD10CM:Q85.0 xref: MESH:C563524 xref: ORDO:97685 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:8712 ! neurofibromatosis is_a: DOID:8927 ! learning disability is_a: DOID:9001487 ! Facies is_a: DOID:9002427 ! Fetal Macrosomia is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060404 name: chromosome 17q12 deletion syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome "DO"] synonym: "17q12 microdeletion syndrome" EXACT [] xref: GARD:13297 xref: MIM:614527 xref: ORDO:261265 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2015-11-10T00:00:00Z [Term] id: DOID:0060405 name: chromosome 17q23.1-q23.2 deletion syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/20598276 "DO"] synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [] synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [] xref: GARD:10936 xref: MIM:613355 xref: ORDO:261279 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060406 name: chromosome 18p deletion syndrome alt_id: MIM:146390 def: "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16691587 "DO"] synonym: "18p deletion syndrome" EXACT [] synonym: "18p minus syndrome" EXACT [] synonym: "18p- syndrome" EXACT [] synonym: "De Grouchy syndrome" EXACT [] synonym: "Del(18p) syndrome" EXACT [] synonym: "monosomy 18p" EXACT [] xref: GARD:8631 xref: MESH:C538309 xref: NCI:C84521 xref: ORDO:1598 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060407 name: chromosome 18q deletion syndrome alt_id: MIM:601808 def: "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)" [https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome "DO", https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome "DO"] synonym: "18q syndrome" EXACT [] synonym: "chromosome 18, monosomy 18Q" EXACT [] synonym: "chromosome 18q syndrome" EXACT [] synonym: "deletion 18q" EXACT [] synonym: "monosomy 18q" EXACT [] synonym: "monosomy 18q, deletion 18q" EXACT [] synonym: "monosomy 18q syndrome" EXACT [] xref: MESH:C536580 xref: ORDO:1600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060408 name: chromosome 19q13.11 deletion syndrome alt_id: MIM:613026 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/24243649 "DO"] synonym: "19q13.11 microdeletion syndrome" EXACT [] synonym: "chromosome 19q13.11 deletion syndrome, distal" EXACT [] synonym: "monosomy 19q13.11" EXACT [] xref: GARD:10592 xref: MESH:C567810 xref: ORDO:217346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060409 name: NFIA-related disorder def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK542336/ "DO"] synonym: "1p31p32 microdeletion syndrome" RELATED [] synonym: "brain malformations with or without urinary tract defects" EXACT [] synonym: "BRMUTD" EXACT [] synonym: "chromosome 1p32-p31 deletion syndrome" RELATED [] synonym: "NFIA-RELATED CONDITION" EXACT [] xref: MIM:613735 xref: ORDO:401986 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008657 ! Urinary Tract Abnormalities [Term] id: DOID:0060410 name: chromosome 1p36 deletion syndrome alt_id: MIM:607872 def: "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)" [https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome "DO"] synonym: "1p36.33 deletion" EXACT [] synonym: "1p36 deletion syndrome" EXACT [] synonym: "chromosome 1, 1p36 deletion syndrome" EXACT [] synonym: "chromosome 1p36 deletion syndrome, distal" EXACT [] synonym: "deletion 1p36" EXACT [] synonym: "monosomy 1p36" EXACT [] synonym: "monosomy 1p36 syndrome" EXACT [] synonym: "subtelomeric 1p36 deletion" RELATED [] xref: GARD:6082 xref: MESH:C535362 xref: NCI:C74983 xref: ORDO:1606 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060411 name: chromosome 1q21.1 deletion syndrome alt_id: MIM:612474 def: "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)" [https://ghr.nlm.nih.gov/condition/1q211-microdeletion "DO"] synonym: "1q21.1 contiguous gene deletion" EXACT [] synonym: "1q21.1 Deletion" EXACT [] synonym: "1q21.1 Microdeletion" EXACT [] synonym: "1q21.1 microdeletion syndrome" EXACT [] synonym: "chromosome 1q21.1 deletion syndrome, 1.35-Mb" EXACT [] synonym: "monosomy 1q21.1" RELATED [] xref: GARD:10813 xref: MESH:C567291 xref: ORDO:250989 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060412 name: chromosome 1q41-q42 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736036/ "DO"] synonym: "1q41-q42 microdeletion syndrome" EXACT [] synonym: "1q41q42 microdeletion syndrome" EXACT [] xref: GARD:3738 xref: MIM:612530 xref: MONDO:0012927 xref: ORDO:250999 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:4621 ! holoprosencephaly created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060413 name: chromosome 22q11.2 deletion syndrome, distal alt_id: MIM:611867 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18179902/ "DO", https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome "DO"] synonym: "DiGeorge syndrome and Velocardiofacial syndrome" EXACT [] synonym: "distal 22q11.2 microdeletion syndrome" EXACT [] xref: MESH:C567511 xref: ORDO:261330 is_a: DOID:9001460 ! 22q11 Deletion Syndrome [Term] id: DOID:0060414 name: chromosome 2p12-p11.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19764038/ "DO"] xref: MIM:613564 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060415 name: chromosome 2p16.1-p15 deletion syndrome alt_id: MIM:612513 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/26019277/ "DO"] synonym: "2p15-p16.1 microdeletion syndrome" EXACT [] synonym: "2p15p16.1 microdeletion syndrome" EXACT [] xref: GARD:13391 xref: ICD10CM:Q93.5 xref: MESH:C567289 xref: ORDO:261349 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060416 name: chromosome 2q31.2 deletion syndrome alt_id: MIM:612345 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19248183/ "DO"] xref: MESH:C567344 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060417 name: 3p deletion syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/19760623 "DO"] synonym: "3p- syndrome" EXACT [] synonym: "chromosome 3pter-P25 deletion syndrome" EXACT [] synonym: "distal monosomy 3p" EXACT [] xref: MIM:613792 xref: ORDO:1620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0060418 name: chromosome 3q13.31 deletion syndrome alt_id: MIM:615433 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/22180640/ "DO"] synonym: "3q13 microdeletion syndrome" EXACT [] synonym: "chromosome 3, monosomy 3q13" EXACT [] synonym: "deletion 3q13" EXACT [] synonym: "monosomy 3q13" EXACT [] xref: MESH:C536808 xref: ORDO:1621 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060419 name: chromosome 3q29 microdeletion syndrome alt_id: MIM:609425 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO)" [https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK385289/ "DO"] synonym: "3q29 recurrent deletion" EXACT [] synonym: "3q subtelomere deletion syndrome" EXACT [] synonym: "3qter deletion" EXACT [] synonym: "microdeletion 3q29 syndrome" EXACT [] xref: GARD:11974 xref: MESH:C567184 xref: ORDO:65286 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060420 name: chromosome 4q21 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20522426/ "DO"] synonym: "4q21 microdeletion syndrome" EXACT [] synonym: "monosomy 4q21" EXACT [] xref: MIM:613509 xref: ORDO:238750 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060421 name: chromosome 5q12 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24203977/ "DO"] xref: MIM:615668 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060422 name: chromosome 6pter-p24 deletion syndrome alt_id: MIM:612582 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18629875/ "DO"] synonym: "6p25 microdeletion syndrome" EXACT [] synonym: "6p subtelomeric deletion syndrome" EXACT [] synonym: "distal monosomy 6p" EXACT [] xref: MESH:C567239 xref: ORDO:96125 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1682 ! congenital heart disease is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060423 name: chromosome 6q11-q14 deletion syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/19213033/ "DO"] xref: MIM:613544 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060424 name: chromosome 6q24-q25 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17512813/ "DO"] synonym: "6q25 microdeletion syndrome" EXACT [] synonym: "monosomy 6q25" EXACT [] xref: MIM:612863 xref: ORDO:251056 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060425 name: chromosome 8q21.11 deletion syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/21802062/ "DO"] synonym: "8q21.11 microdeletion syndrome" EXACT [] xref: MIM:614230 xref: ORDO:284160 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9005401 ! Chromosome 8 Deletion is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060426 name: chromosome 19p13.13 deletion syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome "DO"] xref: MIM:613638 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060427 name: chromosome Xp21 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17089405/ "DO"] synonym: "complex glycerol kinase deficiency" EXACT [] synonym: "monosomy Xp21" EXACT [] synonym: "Xp21 microdeletion syndrome" EXACT [] xref: MIM:300679 xref: ORDO:261476 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060428 name: SATB2-associated syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK458647/ "DO"] synonym: "2q32-q33 microdeletion syndrome" EXACT [] synonym: "2q32q33 microdeletion syndrome" EXACT [] synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [] synonym: "Glass" EXACT [] synonym: "Glass Syndrome" EXACT [] synonym: "monosomy 2q32" EXACT [] synonym: "monosomy 2q32-q33" EXACT [] synonym: "monosomy 2q32q33" EXACT [] synonym: "SATB2 ASSOCIATED DISORDER" EXACT [] synonym: "SATB2-RELATED CONDITION" EXACT [] synonym: "SATB2-related disorder" EXACT [] xref: MESH:C567350 xref: MIM:612313 xref: MONDO:0012864 xref: ORDO:251019 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060429 name: chromosomal duplication syndrome def: "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)" [https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ "DO"] synonym: "Chromosomal Duplication" EXACT [] synonym: "chromosomal duplications" EXACT [] synonym: "Chromosome Duplication" EXACT [] synonym: "chromosome duplications" EXACT [] xref: MESH:D058674 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:0060430 name: chromosome 16p11.2 duplication syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/16p112-duplication "DO"] synonym: "proximal 16p11.2 microduplication syndrome" EXACT [] synonym: "proximal dup(16)(p11.2)" EXACT [] synonym: "proximal trisomy 16p11.2" EXACT [] xref: GARD:12388 xref: MIM:614671 xref: MONDO:0013847 xref: ORDO:370079 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060431 name: chromosome 16p13.3 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19833603/ "DO"] synonym: "16p13.3 microduplication syndrome" EXACT [] synonym: "distal duplication 16p" EXACT [] synonym: "distal trisomy 16p" EXACT [] synonym: "telomeric duplication 16p" EXACT [] xref: MIM:613458 xref: ORDO:96078 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060432 name: chromosome 17p13.3 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19136950/ "DO"] synonym: "17p13.3 duplication syndrome" EXACT [] synonym: "17p13.3 microduplication syndrome" EXACT [] synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [] synonym: "trisomy 17p13.3" EXACT [] xref: MESH:C567705 xref: MIM:613215 xref: MONDO:0013182 xref: ORDO:217385 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060433 name: chromosome 17q12 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO)" [https://ghr.nlm.nih.gov/condition/17q12-duplication "DO", https://www.ncbi.nlm.nih.gov/books/NBK344340/ "DO"] synonym: "17q12 microduplication syndrome" EXACT [] synonym: "trisomy 17q12" EXACT [] xref: GARD:13296 xref: MIM:614526 xref: ORDO:261272 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060434 name: chromosome 17q21.31 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19502243/ "DO"] synonym: "17q21.31 microduplication syndrome" EXACT [] synonym: "trisomy 17q21.31" EXACT [] xref: ICD10CM:Q92.3 xref: MIM:613533 xref: ORDO:217340 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060435 name: chromosome 1q21.1 duplication syndrome alt_id: MIM:612475 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO)" [https://ghr.nlm.nih.gov/condition/1q211-microduplication "DO"] synonym: "1q21.1 microduplication syndrome" EXACT [] synonym: "trisomy 1q21.1" EXACT [] xref: GARD:10591 xref: MESH:C567290 xref: ORDO:250994 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0060436 name: chromosome 22q11.2 microduplication syndrome alt_id: MIM:608363 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO)" [https://ghr.nlm.nih.gov/condition/22q112-duplication "DO"] synonym: "22q11.2 duplication" EXACT [] synonym: "22q11.2 microduplication syndrome" EXACT [] synonym: "chromosome 22q11.2 duplication syndrome" EXACT [] synonym: "trisomy 22q11.2" EXACT [] xref: MESH:C567224 xref: ORDO:1727 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:11198 ! DiGeorge syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060437 name: chromosome 22q13 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24153177/ "DO"] xref: MIM:615538 xref: MONDO:0014235 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060438 name: Cole-Carpenter syndrome def: "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10842295 "DO"] synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features" EXACT [] xref: MESH:C535963 xref: MIM:PS112240 xref: NCI:C130985 xref: ORDO:2050 is_a: DOID:10908 ! hydrocephalus is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060439 name: lysinuric protein intolerance alt_id: MIM:222700 def: "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)" [http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance "DO", http://www.ncbi.nlm.nih.gov/books/NBK1361/ "DO", https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance "DO", https://www.ncbi.nlm.nih.gov/pubmed/1155480 "DO"] synonym: "Dibasic Amino Aciduria II" EXACT [] synonym: "Hyperdibasic Aminoaciduria" EXACT [] synonym: "LPI" EXACT [] synonym: "LPI - Lysinuric Protein Intolerance" EXACT [] synonym: "SLC7A7-RELATED CONDITION" EXACT [] xref: GARD:3335 xref: MESH:C562687 xref: NCI:C121563 xref: ORDO:470 xref: RDO:0012291 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060440 name: epithelial and subepithelial dystrophy def: "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"] xref: RDO:9004322 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060441 name: epithelial-stromal TGFBI dystrophy def: "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)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO"] xref: RDO:9004323 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060442 name: stromal dystrophy def: "A corneal dystrophy that affects the corneal stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"] xref: RDO:9004324 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060443 name: corneal endothelial dystrophy def: "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"] synonym: "dystrophy of corneal endothelium" EXACT [] synonym: "endothelial dystrophy" EXACT [] is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060444 name: granular corneal dystrophy 2 alt_id: MIM:607541 def: "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)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO", https://www.omim.org/entry/607541 "DO"] synonym: "ACD" EXACT [] synonym: "Avellino corneal dystrophy" EXACT [] synonym: "CDA" EXACT [] synonym: "CGD2" EXACT [] synonym: "combined granular-lattice corneal dystrophies" EXACT [] synonym: "combined granular-lattice corneal dystrophy" EXACT [] synonym: "corneal dystrophy, Avellino type" EXACT [] synonym: "granular and lattice corneal dystrophies" EXACT [] synonym: "granular corneal dystrophy type 2" EXACT [] synonym: "granular corneal dystrophy type II" EXACT [] synonym: "granular-lattice (Avellino) corneal dystrophy" EXACT [] xref: EFO:0004882 xref: MESH:C535474 xref: MONDO:0011855 xref: ORDO:98963 is_a: DOID:12318 ! granular corneal dystrophy [Term] id: DOID:0060445 name: congenital stromal corneal dystrophy alt_id: MIM:610048 def: "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy "DO", https://www.ncbi.nlm.nih.gov/books/NBK2690/ "DO"] synonym: "congenital hereditary stromal dystrophy" EXACT [] synonym: "congenital hereditary stromal dystrophy of the cornea" EXACT [] synonym: "congenital stromal dystrophy of the cornea" EXACT [] synonym: "CSCD" EXACT [] synonym: "decorin-associated congenital stromal corneal dystrophy" EXACT [] synonym: "dystrophia corneae parenchymatosa congenita" EXACT [] xref: MESH:C566452 xref: ORDO:101068 is_a: DOID:0060442 ! stromal dystrophy is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060446 name: X-linked endothelial corneal dystrophy alt_id: MIM:300779 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/16490493/ "DO"] synonym: "XECD" EXACT [] xref: ICD10CM:H18.5 xref: MESH:C567587 xref: ORDO:293621 is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0060447 name: epithelial basement membrane dystrophy alt_id: MIM:121820 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/16652336/ "DO"] synonym: "anterior basement membrane corneal dystrophy" EXACT [] synonym: "Cogan corneal dystrophy" EXACT [] synonym: "corneal dystrophy, Cogan type" EXACT [] synonym: "Corneal Dystrophy, Map-Dot-Fingerprint Type" EXACT [] synonym: "EBMD" EXACT [] synonym: "map-dot-fingerprint dystrophy of cornea" EXACT [] synonym: "microcystic corneal dystrophy" EXACT [] synonym: "microcystic dystrophy of the cornea" EXACT [] xref: MESH:C535477 xref: ORDO:98956 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060216 ! Cogan syndrome is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0060448 name: Fleck corneal dystrophy alt_id: MIM:121850 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/23288988/ "DO", https://pubmed.ncbi.nlm.nih.gov/26396486 "DO"] synonym: "CFD" EXACT [] synonym: "FCD" EXACT [] synonym: "Francois-Neetens corneal dystrophy, speckled or flecked" EXACT [] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [] xref: MESH:C563256 xref: ORDO:98970 is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:0060449 name: gelatinous drop-like corneal dystrophy alt_id: MIM:204870 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/10192395/ "DO"] synonym: "amyloid corneal dystrophy, Japanese type" EXACT [] synonym: "CDGDL" EXACT [] synonym: "Corneal amyloidosis" EXACT [] synonym: "GDCD" EXACT [] synonym: "GDLD" EXACT [] synonym: "lattice corneal dystrophy type3" EXACT [] synonym: "lattice corneal dystrophy, type 3" EXACT [] synonym: "lattice corneal dystrophy type III" EXACT [] synonym: "primary familial amyloidosis of the cornea" EXACT [] synonym: "subepithelial amyloidosis of the cornea" EXACT [] xref: MESH:C535480 xref: NCI:C142805 xref: ORDO:98957 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:0060450 name: Lisch epithelial corneal dystrophy alt_id: MIM:620763 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/11024418/ "DO", https://pubmed.ncbi.nlm.nih.gov/37972748/ "DO"] synonym: "band-shaped and whorled microcystic" RELATED [] synonym: "band-shaped and whorled microcystic corneal epithelial dystrophy" EXACT [] synonym: "LECD" EXACT [] xref: MESH:C567588 xref: ORDO:98955 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0060451 name: Meesmann corneal dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO)" [https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy "DO"] synonym: "juvenile epithelial corneal dystrophy of Meesmann" EXACT [] synonym: "Juvenile Hereditary Epithelial Dystrophy" EXACT [] synonym: "MECD" EXACT [] synonym: "Meesman's corneal dystrophy" EXACT [] synonym: "Meesmann corneal dystrophies" EXACT [] synonym: "Meesmann corneal epithelial dystrophy" EXACT [] synonym: "Stocker-Holt dystrophy" EXACT [] xref: GARD:9688 xref: ICD10CM:H18.52 xref: ICD9CM:371.51 xref: MESH:D053559 xref: MIM:PS122100 xref: NCI:C84795 xref: ORDO:98954 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0060452 name: posterior amorphous corneal dystrophy def: "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)" [https://pubmed.ncbi.nlm.nih.gov/27096414/ "DO"] synonym: "chromosome 12q21.33 deletion syndrome" EXACT [] synonym: "PACD" EXACT [] xref: MESH:C567546 xref: MIM:612868 xref: MONDO:0013027 xref: ORDO:98971 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:0060453 name: Reis-Bucklers corneal dystrophy alt_id: MIM:608470 def: "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)" [https://www.omim.org/entry/608470 "DO"] synonym: "anterior limiting membrane dystrophy type I" EXACT [] synonym: "CDB1" EXACT [] synonym: "CDRB" EXACT [] synonym: "corneal dystrophy of Bowman layer, type 1" EXACT [] synonym: "corneal dystrophy of Bowman layer, type I" EXACT [] synonym: "corneal dystrophy, Reis-Bucklers type" EXACT [] synonym: "geographic corneal dystrophy" EXACT [] synonym: "granular corneal dystrophy type III" EXACT [] synonym: "RBCD" EXACT [] synonym: "Reis-Bucklers dystrophy" EXACT [] xref: MESH:C535476 xref: ORDO:98961 is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:0060454 name: subepithelial mucinous corneal dystrophy alt_id: MIM:612867 def: "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8352693/ "DO"] synonym: "SMCD" EXACT [] xref: MESH:C567547 xref: ORDO:98959 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0060455 name: Thiel-Behnke corneal dystrophy alt_id: MIM:602082 def: "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)" [https://www.omim.org/entry/602082 "DO"] synonym: "anterior limiting membrane dystrophy type II" EXACT [] synonym: "CDB2" EXACT [] synonym: "CDTB" EXACT [] synonym: "corneal dystrophy honeycomb-shaped" EXACT [] synonym: "corneal dystrophy of Bowman layer, type II" EXACT [] synonym: "corneal dystrophy of the Bowman layer, type 2" EXACT [] synonym: "corneal dystrophy, Thiel-Behnke type" EXACT [] synonym: "TBCD" EXACT [] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [] xref: MESH:C535942 xref: ORDO:98960 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy [Term] id: DOID:0060456 name: Schnyder corneal dystrophy alt_id: MIM:121800 def: "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)" [https://pubmed.ncbi.nlm.nih.gov/23169578/ "DO"] synonym: "corneal dystrophy crystalline of Schnyder" EXACT [] synonym: "crystalline stromal dystrophy" EXACT [] synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [] synonym: "SCCD" EXACT [] synonym: "Schnyder crystalline corneal dystrophy" EXACT [] xref: GARD:9277 xref: MESH:C535475 xref: ORDO:98967 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:0060457 name: posterior polymorphous corneal dystrophy def: "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO)" [https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy "DO"] synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [] synonym: "PPCD" EXACT [] synonym: "Schlichting dystrophy" EXACT [] xref: MIM:PS122000 xref: ORDO:98973 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060458 name: chromosome 2q31.1 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20577005/ "DO"] xref: MIM:613681 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060459 name: chromosome 3q29 microduplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO)" [https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome "DO"] synonym: "3q29 microduplication" EXACT [] synonym: "chromosome 3q29 duplication syndrome" EXACT [] synonym: "microduplication 3q29 syndrome" EXACT [] synonym: "trisomy 3q29" EXACT [] xref: GARD:10360 xref: MESH:C567626 xref: MIM:611936 xref: ORDO:251038 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0060460 name: chromosome 5p13 duplication syndrome alt_id: MIM:613174 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19052029/ "DO"] synonym: "5p13 microduplication syndrome" EXACT [] synonym: "trisomy 5p13" EXACT [] xref: MESH:C567717 xref: ORDO:329802 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060461 name: chromosome Xp11.23-p11.22 duplication syndrome alt_id: MIM:300801 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19716111/ "DO"] synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [] synonym: "trisomy Xp11.22-p11.23" EXACT [] xref: ICD10CM:Q99.8 xref: MESH:C567585 xref: ORDO:217377 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060462 name: Desbuquois dysplasia def: "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853239 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21037275 "DO"] synonym: "Desbuquois dysplasia, Kim variant" NARROW [] synonym: "Desbuquois Syndrome" EXACT [] synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [] xref: GARD:1818 xref: MESH:C535943 xref: MIM:PS251450 xref: NCI:C124056 xref: ORDO:1425 is_a: DOID:1148 ! polydactyly is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9003295 ! Heterotopic Ossification is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060463 name: NUT midline carcinoma def: "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)" [https://en.wikipedia.org/wiki/NUT_midline_carcinoma "DO", https://omim.org/entry/608749 "DO", https://omim.org/entry/608963 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21221870 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25685583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26378054 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26402248 "DO"] synonym: "nuclear protein in testis midline carcinoma" EXACT [] xref: EFO:0005783 xref: NCI:C45716 xref: ORDO:443167 is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0060464 name: Feingold syndrome def: "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO)" [http://ghr.nlm.nih.gov/condition/feingold-syndrome "DO", https://en.wikipedia.org/wiki/Feingold_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14518066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16906565 "DO"] synonym: "Brunner Winter syndrome" EXACT [] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [] synonym: "FGLDS" EXACT [] synonym: "microcephaly and digital abnormalities with normal intelligence" EXACT [] synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [] synonym: "Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome" EXACT [] synonym: "Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome" EXACT [] synonym: "Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome" EXACT [] synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT [] synonym: "MMT syndrome" EXACT [] synonym: "MODED" EXACT [] synonym: "MODED syndrome" EXACT [] synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [] synonym: "oculodigitoesophagoduodenal syndrome" EXACT [] synonym: "oculo-digito-esophagoduodental (ODED) syndrome" EXACT [] synonym: "ODED" EXACT [] synonym: "ODED syndrome" EXACT [] xref: GARD:8407 xref: MESH:C537734 xref: MIM:PS164280 xref: ORDO:1305 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008498 ! Tracheoesophageal Fistula [Term] id: DOID:0060465 name: fibrochondrogenesis def: "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)" [https://ghr.nlm.nih.gov/condition/fibrochondrogenesis "DO"] xref: GARD:2321 xref: MESH:C562524 xref: MIM:PS228520 xref: ORDO:2021 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0060466 name: gingival fibromatosis def: "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11868160 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17385395 "DO"] synonym: "fibromatosis gingivae" EXACT [] synonym: "gingival fibromatoses" EXACT [] synonym: "hereditary gingival fibromatosis" EXACT [] synonym: "hereditary gingival hyperplasia" EXACT [] xref: MESH:D005351 xref: MIM:PS135300 xref: ORDO:2024 is_a: DOID:3086 ! gingival overgrowth is_a: DOID:9001018 ! Mouth Abnormalities [Term] id: DOID:0060467 name: humeroradial synostosis alt_id: MIM:143050 alt_id: MIM:236400 def: "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)" [https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis "DO"] synonym: "humero-radial fusion" EXACT [] synonym: "humero-radial synostosis" EXACT [] synonym: "Ramer Ladda syndrome" EXACT [] xref: GARD:2748 xref: MESH:C535284 xref: ORDO:3265 is_a: DOID:11971 ! synostosis [Term] id: DOID:0060468 name: Holt-Oram syndrome alt_id: MIM:142900 alt_id: MIM:314600 def: "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO)" [http://ghr.nlm.nih.gov/condition/holt-oram-syndrome "DO", https://en.wikipedia.org/wiki/Holt-Oram_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12223419 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12436037 "DO"] synonym: "atriodigital dysplasia" EXACT [] synonym: "Atrio-Digital Syndrome" EXACT [] synonym: "Cardiac-Limb Syndrome" EXACT [] synonym: "Cervico-Oculo-Acoustic Syndrome" EXACT [] synonym: "CervicoOculoAcoustic Syndrome" EXACT [] synonym: "Heart-hand syndrome" EXACT [] synonym: "Heart-Hand Syndrome, Type 1" EXACT [] synonym: "HOS" EXACT [] synonym: "HOS1" EXACT [] synonym: "TBX5-RELATED CONDITION" EXACT [] synonym: "ventriculo-radial syndrome" EXACT [] synonym: "Wildervanck syndrome" EXACT [] xref: GARD:6666 xref: ICD10CM:Q87.2 xref: MESH:C535326 xref: NCI:C125592 xref: ORDO:392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:0060469 name: Miller-Dieker lissencephaly syndrome alt_id: RDO:9004023 def: "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)" [http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome "DO", https://en.wikipedia.org/wiki/Miller-Dieker_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21239872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9473821 "DO"] synonym: "chromosome 17p13.3 deletion syndrome" EXACT [] synonym: "MDCR" EXACT [] synonym: "MDLS" EXACT [] synonym: "MDS" EXACT [] synonym: "MDS chromosome 17p13.3 deletion syndrome" EXACT [] synonym: "Miller-Dieker lissencephaly" EXACT [] synonym: "Miller-Dieker syndrome" EXACT [] synonym: "Miller-Dieker syndrome chromosome region" EXACT [] xref: ICD10CM:Q93.88 xref: MIM:247200 xref: NCI:C124852 xref: ORDO:531 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060470 name: salt and pepper syndrome alt_id: MIM:609056 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/24026681 "DO"] synonym: "Amish infantile epilepsy syndrome" EXACT [] synonym: "GM3 Synthase Deficiency" EXACT [] synonym: "INFANTILE EPILEPSY SYNDROME" EXACT [] synonym: "infantile-onset symptomatic epilepsy syndrome" EXACT [] synonym: "salt & pepper syndrome" EXACT [] synonym: "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME" EXACT [] synonym: "salt and pepper mental retardation syndrome" EXACT [] synonym: "SPDRS" EXACT [] xref: MESH:C563799 xref: ORDO:370938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:0060471 name: fetal valproate syndrome alt_id: MIM:609442 def: "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17090909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25400349 "DO"] synonym: "fetal effects from dalpro" EXACT [] synonym: "fetal effects from epival" EXACT [] synonym: "fetal valproic acid syndrome" EXACT [] synonym: "fetal valproic syndrome" EXACT [] synonym: "foetal valproate syndrome" EXACT [] synonym: "foetal valproic acid syndrome" EXACT [] synonym: "Valproic Acid Antenatal Infection" EXACT [] synonym: "valproic acid embryopathy" EXACT [] xref: MESH:C536525 xref: NCI:C98930 xref: ORDO:1906 is_a: DOID:225 ! syndrome is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:0060472 name: Kindler syndrome alt_id: MIM:173650 def: "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO)" [https://en.wikipedia.org/wiki/Kindler_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12668616 "DO"] synonym: "Bullous acrokeratotic poikiloderma of kindler and weary" EXACT [] synonym: "Congenital bullous poikiloderma" EXACT [] synonym: "FERMT1-RELATED CONDITION" EXACT [] synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" EXACT [] synonym: "Kindler's syndrome" EXACT [] synonym: "KNDLRS" EXACT [] synonym: "Poikiloderma, congenital, with bullae, weary type" EXACT [] synonym: "Poikiloderma, hereditary acrokeratotic" EXACT [] synonym: "poikiloderma of Kindler" EXACT [] xref: GARD:4391 xref: MESH:C536321 xref: ORDO:306539 is_a: DOID:2730 ! epidermolysis bullosa is_a: DOID:3159 ! photosensitivity disease is_a: DOID:3388 ! periodontal disease is_a: DOID:9008110 ! Blister [Term] id: DOID:0060473 name: Kabuki syndrome def: "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)" [http://ghr.nlm.nih.gov/condition/kabuki-syndrome "DO", https://en.wikipedia.org/wiki/Kabuki_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25281733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25972376 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26512256 "DO"] synonym: "Kabuki make up syndrome" EXACT [] synonym: "Kabuki makeup syndrome" EXACT [] synonym: "KMS" EXACT [] synonym: "Niikawa-Kuroki syndrome" EXACT [] xref: GARD:6810 xref: MESH:C537705 xref: MIM:PS147920 xref: NCI:C124837 xref: ORDO:2322 is_a: DOID:225 ! syndrome is_a: DOID:3426 ! vestibular disease is_a: DOID:74 ! hematopoietic system disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060474 name: familial erythrocytosis 2 alt_id: MIM:263400 def: "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15725900 "DO"] synonym: "autosomal recessive benign erythrocytosis" EXACT [] synonym: "Chuvash erythromatosis" EXACT [] synonym: "Chuvash polycythemia" EXACT [] synonym: "Chuvash type polycythemia" EXACT [] synonym: "ECYT2" EXACT [] synonym: "familial erythrocytosis 2, autosomal recessive" EXACT [] synonym: "polycythemia, VHL-dependent" EXACT [] xref: MESH:C563918 xref: ORDO:238557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0060475 name: myoclonic-atonic epilepsy alt_id: DOID:9002731 def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK589173/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23708187 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24207121 "DO"] synonym: "childhood onset epileptic encephalopathy" EXACT [] synonym: "early life seizures" EXACT [] synonym: "early onset epileptic encephalopathy" EXACT [] synonym: "EEOC" EXACT [] synonym: "ELS" EXACT [] synonym: "GENERALIZED MYOCLONIC-ATONIC SEIZURE" EXACT [] synonym: "IECEE" EXACT [] synonym: "infantile epileptic encephalopathy" NARROW [] synonym: "infantile or early childhood epileptic encephalopathy" EXACT [] synonym: "infantile spasm" NARROW [] synonym: "MAE" EXACT [] synonym: "myoclonic-atonic seizure" EXACT [] synonym: "SLC6A1-RELATED CONDITION" EXACT [] synonym: "SLC6A1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY" NARROW [] xref: MIM:616421 xref: NCI:C165674 xref: NCI:C172100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0060476 name: Perlman syndrome alt_id: MIM:267000 def: "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)" [https://en.wikipedia.org/wiki/Perlman_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18780370 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22306653 "DO"] synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [] synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [] synonym: "PREDISPOSITION TO WILMS TUMOR" NARROW [] synonym: "PRLMNS" EXACT [] synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" EXACT [] xref: GARD:3936 xref: MESH:C536399 xref: NCI:C103144 xref: ORDO:2849 is_a: DOID:2154 ! nephroblastoma is_a: DOID:225 ! syndrome is_a: DOID:9002427 ! Fetal Macrosomia [Term] id: DOID:0060478 name: Zika fever def: "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)" [http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx "DO", http://www.who.int/mediacentre/factsheets/zika/en/ "DO", https://en.wikipedia.org/wiki/Zika_fever "DO", https://www.cdc.gov/zika/about/ "DO"] synonym: "Zika virus disease" EXACT [] synonym: "Zika virus infection" EXACT [] xref: ICD10CM:A92.8 xref: MESH:D000071243 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007579 ! Arbovirus Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0060479 name: Shwachman-Diamond syndrome alt_id: DOID:0080023 alt_id: MIM:260400 def: "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)" [http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome "DO", https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18356737 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22201042 "DO"] synonym: "congenital lipomatosis of pancreas" EXACT [] synonym: "metaphyseal chondrodysplasia, Shwachman type" EXACT [] synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [] synonym: "SDS" EXACT [] synonym: "SDS1" EXACT [] synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [] synonym: "Shwachman-Bodian syndrome" EXACT [] synonym: "Shwachman-Diamond-Oski syndrome" EXACT [] synonym: "Shwachman-Diamond syndrome 1" EXACT [] synonym: "Shwachman-Diamond type metaphyseal dysplasia" EXACT [] synonym: "Shwachman syndrome" EXACT [] xref: GARD:4863 xref: MESH:D000081003 xref: MIM:PS260400 xref: NCI:C61235 is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:13316 ! exocrine pancreatic insufficiency is_a: DOID:3153 ! lipomatosis is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes [Term] id: DOID:0060480 name: left ventricular noncompaction def: "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16567565 "DO"] synonym: "left ventricular hypertrabeculation" EXACT [] synonym: "LVNC" EXACT [] synonym: "ncCM" EXACT [] synonym: "non-compaction cardiomyopathy" EXACT [] xref: EFO:0002632 xref: EFO:0004686 xref: GARD:10985 xref: HP:0011664 xref: MIM:PS604169 xref: MONDO:0018901 xref: ORDO:54260 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:9000596 ! Isolated Noncompaction of the Ventricular Myocardium [Term] id: DOID:0060481 name: Goldberg-Shprintzen syndrome alt_id: MIM:609460 def: "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)" [https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15883926 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23427148 "DO"] synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [] synonym: "GOSHS" EXACT [] xref: GARD:9849 xref: MESH:C537279 xref: ORDO:66629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060482 name: oculoauricular syndrome alt_id: MIM:612109 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/18423520 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25574057 "DO"] synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear" EXACT [] synonym: "OCACS" EXACT [] synonym: "SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME" EXACT [] xref: MESH:C567416 xref: ORDO:157962 is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060483 name: MEDNIK syndrome alt_id: MIM:609313 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/23423674 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24754424 "DO"] synonym: "EKV3" EXACT [] synonym: "erythrokeratodermia variabilis 3" EXACT [] synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [] synonym: "impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" EXACT [] synonym: "MEDNIK" EXACT [] synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [] synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" EXACT [] xref: MESH:C563739 xref: ORDO:171851 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:225 ! syndrome [Term] id: DOID:0060484 name: EAST syndrome alt_id: MIM:612780 alt_id: OMIA:002089 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/19289823 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19420365 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23471908 "DO"] synonym: "cerebellar ataxia, KCNJ10-related" NARROW [] synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [] synonym: "KCNJ10-related disorder" BROAD [] synonym: "KCNJ10-related disorders" BROAD [] synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome" EXACT [] synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT [] synonym: "SESAME-LIKE SYNDROME" RELATED [] synonym: "SESAMES" EXACT [] synonym: "SeSAME syndrome" EXACT [] xref: MESH:C557674 xref: ORDO:199343 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:0060485 name: Mowat-Wilson syndrome alt_id: MIM:235730 def: "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)" [https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17958891 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23466526 "DO"] synonym: "Hirschsprung disease mental retardation syndrome" EXACT [] synonym: "Hirschsprung disease-mental retardation syndrome, late infantile" NARROW [] synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT [] synonym: "microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease" EXACT [] synonym: "MOWS" EXACT [] synonym: "ZEB2-RELATED CONDITION" EXACT [] xref: GARD:9673 xref: MESH:C536990 xref: NCI:C74999 xref: ORDO:2152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:0060486 name: Perry syndrome alt_id: MIM:168605 def: "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)" [http://www.ncbi.nlm.nih.gov/books/NBK47027/ "DO", https://ghr.nlm.nih.gov/condition/perry-syndrome "DO"] synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [] xref: GARD:10453 xref: MESH:C566822 xref: ORDO:178509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080855 ! Parkinsonism is_a: DOID:225 ! syndrome is_a: DOID:9003671 ! Hypoventilation [Term] id: DOID:0060488 name: Pitt-Hopkins syndrome def: "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)" [http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome "DO", https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17436255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26621827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/728011 "DO"] synonym: "Pitt-Hopkins-like syndrome" RELATED [] synonym: "PTHS" EXACT [] synonym: "severe epileptic encephalopathy, with autonomic dysfunction" EXACT [] synonym: "syndromal mental retardation, with intermittent hyperventilation" EXACT [] xref: GARD:4372 xref: MESH:C537403 xref: MIM:610954 xref: MONDO:0012589 xref: NCI:C129872 xref: ORDO:2896 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9006680 ! Hyperventilation [Term] id: DOID:0060490 name: Schimke immuno-osseous dysplasia alt_id: MIM:242900 def: "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)" [http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1376/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10653321 "DO"] synonym: "immunoosseous dysplasia Schimke type" EXACT [] synonym: "Schimke immunoosseous dysplasia" EXACT [] synonym: "Schimke syndrome" EXACT [] synonym: "SIOD" EXACT [] synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [] xref: GARD:4984 xref: MESH:C536629 xref: NCI:C135087 xref: ORDO:1830 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:2349 ! arteriosclerosis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9477 ! pulmonary embolism [Term] id: DOID:0060491 name: SPOAN syndrome alt_id: MIM:609541 alt_id: RDO:0012893 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/15852396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26385635 "DO"] synonym: "spastic paraplegia, optic atrophy, and neuropathy" EXACT [] synonym: "spastic paraplegia, optic atrophy, and neuropathy syndrome" EXACT [] synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT [] synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [] xref: MESH:C563702 xref: ORDO:320406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:5723 ! optic atrophy is_a: DOID:607 ! paraplegia [Term] id: DOID:0060492 name: chicken egg allergy def: "An egg allergy triggered by Gallus gallus eggs. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001 "DO", https://en.wikipedia.org/wiki/Egg_allergy "DO"] synonym: "Gallus gallus egg allergy" EXACT [] xref: RDO:9003473 is_a: DOID:4377 ! egg allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060495 name: shellfish allergy def: "A food allergy triggered by Crustacea or Mollusca. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"] synonym: "shellfish allergies" EXACT [] synonym: "shellfish hypersensitivities" EXACT [] synonym: "shellfish hypersensitivity" EXACT [] xref: MESH:D000067208 is_a: DOID:3044 ! food allergy [Term] id: DOID:0060496 name: respiratory allergy def: "An allergic disease that is located_in the respiratory tract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25006500 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28187789 "DO"] synonym: "airway allergy" EXACT [] synonym: "airway hyper responsiveness" EXACT [] synonym: "allergic lung disease" RELATED [] synonym: "respiratory hypersensitivities" EXACT [] synonym: "respiratory hypersensitivity" EXACT [] xref: MESH:D012130 is_a: DOID:1205 ! allergic disease is_a: DOID:1579 ! respiratory system disease is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:0060497 name: pollen allergy def: "A respiratory allergy triggered by pollen. (DO)" [https://acaai.org/allergies/types-allergies/pollen-allergy "DO", https://www.aafa.org/pollen-allergy/ "DO"] synonym: "pollen allergies" EXACT [] is_a: DOID:9008103 ! Seasonal Allergic Rhinitis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060498 name: Timothy grass allergy def: "A pollen allergy triggered by Phleum pratense pollen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25685162 "DO"] is_a: DOID:0060497 ! pollen allergy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060499 name: autoimmune neuropathy def: "An autoimmune disease of central nervous system caused by an autoimmune response. (DO)" [https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders "DO", https://www.ncbi.nlm.nih.gov/pubmed/28601415 "DO"] xref: RDO:9002713 is_a: DOID:0060004 ! autoimmune disease of central nervous system created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060500 name: drug allergy def: "An allergic disease that is triggered by a drug. (DO)" [https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 "DO"] synonym: "Drug Allergies" EXACT [] synonym: "Drug Hypersensitivities" EXACT [] synonym: "Drug Hypersensitivity" EXACT [] xref: EFO:0009482 xref: MESH:D004342 is_a: DOID:1205 ! allergic disease is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:0060501 name: metal allergy def: "An allergic disease that is triggered by a metal. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27228132 "DO"] is_a: DOID:1205 ! allergic disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060502 name: gastrointestinal allergy def: "An allergic disease that is located_in the gastrointestinal tract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18721321 "DO"] is_a: DOID:1205 ! allergic disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060503 name: fruit allergy def: "A food allergy triggered by a plant fruit product. (DO)" [https://en.wikipedia.org/wiki/Fruit_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO"] is_a: DOID:3044 ! food allergy [Term] id: DOID:0060504 name: apple allergy def: "A fruit allergy triggered by Malus domestica plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29130794 "DO"] synonym: "Malus domestica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060505 name: apricot allergy def: "A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30611476 "DO"] synonym: "Prunus armeniaca fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060506 name: cherry allergy def: "A fruit allergy triggered by Prunus avium plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30093847 "DO"] synonym: "Prunus avium fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060507 name: Indian plum allergy def: "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO)" [https://en.wikipedia.org/wiki/Fruit_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/14976388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24696647 "DO"] synonym: "Ziziphus mauritiana fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060508 name: orange allergy def: "A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30099793 "DO"] synonym: "Citrus sinensis fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060509 name: melon allergy def: "A fruit allergy triggered by Cucumis melo plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO"] synonym: "Cucumis melo fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060510 name: peach allergy def: "A fruit allergy triggered by Prunus persica plant fruit food product. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30672059 "DO"] synonym: "Prunus persica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060511 name: plum allergy def: "A fruit allergy triggered by Prunus domestica plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27 "DO"] synonym: "Prunus domestica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060512 name: tomato allergy def: "A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12001794 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23653972 "DO"] synonym: "Solanum lycopersicum fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060513 name: fish allergy def: "A food allergy triggered by fish. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] is_a: DOID:3044 ! food allergy [Term] id: DOID:0060514 name: Atlantic cod allergy def: "A fish allergy triggered by Gadus morhua. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Gadus morhua fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060515 name: Atlantic salmon allergy def: "A fish allergy triggered by Salmo salar. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Salmo salar fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060516 name: carp allergy def: "A fish allergy triggered by Cyprinus carpio. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Cyprinus carpio fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060517 name: zebrafish allergy def: "A fish allergy triggered by Danio rerio. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy "DO"] synonym: "Danio rerio allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060518 name: rainbow trout allergy def: "A fish allergy triggered by Oncorhynchus mykiss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26111497 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Oncorhynchus mykiss allergy" EXACT [] is_a: DOID:0060513 ! fish allergy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060519 name: beta-lactam allergy def: "A drug allergy triggered by a beta-lactam. (DO)" [https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity "DO", https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/31009700 "DO"] xref: RDO:9003962 is_a: DOID:0060500 ! drug allergy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060520 name: penicillin allergy def: "A beta-lactam allergy triggered by penicillin. (DO)" [https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities "DO", https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222 "DO"] is_a: DOID:0060519 ! beta-lactam allergy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060521 name: cow milk allergy def: "A milk allergy triggered by Bos taurus milk. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31083388 "DO"] synonym: "Bos taurus milk allergy" EXACT [] is_a: DOID:4376 ! milk allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060522 name: goat milk allergy def: "A milk allergy triggered by Capra hircus milk. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17002714 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24372684 "DO"] synonym: "Capra hircus milk allergy" EXACT [] is_a: DOID:4376 ! milk allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060523 name: mollusc allergy def: "A shellfish allergy triggered by Mollusca. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"] is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060524 name: crustacean allergy def: "A shellfish allergy triggered by Crustacea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"] is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060525 name: brown shrimp allergy def: "A crustacean allergy triggered by Farfantepenaeus aztecus. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "Farfantepenaeus aztecus allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060526 name: crab allergy def: "A crustacean allergy triggered by Scylla paramamosain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25728640 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "green mud crab allergy" EXACT [] synonym: "Scylla paramamosain allergy" EXACT [] is_a: DOID:0060524 ! crustacean allergy [Term] id: DOID:0060527 name: Indian prawn allergy def: "A crustacean allergy triggered by Fenneropenaeus indicus. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "Fenneropenaeus indicus allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060528 name: tiger prawn allergy def: "A crustacean allergy triggered by Penaeus monodon. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22135598 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29178679 "DO"] synonym: "Penaeus monodon allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060529 name: white shrimp allergy def: "A crustacean allergy triggered by Litopenaeus vannamei. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20471069 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "Litopenaeus vannamei allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060530 name: snail allergy def: "A mollusc allergy triggered by snails. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15591808 "DO"] is_a: DOID:0060523 ! mollusc allergy [Term] id: DOID:0060531 name: horned turban snail allergy def: "A snail allergy triggered by the horned turban snail. (DO)" [https://farrp.unl.edu/informallmollshellfish "DO"] synonym: "Turbo cornutus allergy" EXACT [] is_a: DOID:0060530 ! snail allergy [Term] id: DOID:0060532 name: latex allergy def: "An allergic disease that is triggered by latex. (DO)" [https://en.wikipedia.org/wiki/Latex_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/27010091 "DO"] synonym: "latex allergies" EXACT [] synonym: "Latex Hypersensitivities" EXACT [] synonym: "Latex Hypersensitivity" EXACT [] synonym: "Natural Rubber Latex Allergy" EXACT [] synonym: "Rubber Allergies" EXACT [] synonym: "Rubber Allergy" EXACT [] synonym: "Rubber Latex Allergies" EXACT [] synonym: "rubber latex allergy" EXACT [] xref: MESH:D020315 is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060534 name: hepatoid adenocarcinoma def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO"] xref: EFO:1000293 xref: ICDO:8576/3 xref: NCI:C66950 xref: RDO:9001983 is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0060535 name: Warsaw breakage syndrome def: "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)" [https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20137776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21490908 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23033317 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26089203 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31169992 "DO"] synonym: "WABS" EXACT [] xref: GARD:13708 xref: MIM:613398 xref: NCI:C164675 xref: ORDO:280558 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004203 ! Chromosome Breakage [Term] id: DOID:0060536 name: mitochondrial complex I deficiency def: "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)" [http://www.omim.org/entry/252010 "DO"] synonym: "deficiency of mitochondrial NADH dehydrogenase component of complex I" EXACT [] synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [] synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [] synonym: "isolated NADH-CoQ reductase deficiency" EXACT [] synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [] synonym: "mitochondrial oxidative phosphorylation disorder" EXACT [] synonym: "NADH:Q(1) oxidoreductase deficiency" EXACT [] synonym: "NADH-coenzyme Q reductase deficiency" EXACT [] synonym: "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT" NARROW [] synonym: "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I" NARROW [] xref: GARD:3908 xref: MESH:C537475 xref: ORDO:2609 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060537 name: mitochondrial complex II deficiency def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/23322652 "DO"] synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [] synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [] synonym: "isolated succinate-CoQ reductase deficiency" EXACT [] synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [] synonym: "succinate CoQ reductase deficiency" EXACT [] xref: GARD:5053 xref: ICD10CM:G71.3 xref: MESH:C565375 xref: MIM:PS252011 xref: ORDO:3208 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060538 name: purpura fulminans def: "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)" [https://en.wikipedia.org/wiki/Purpura_fulminans "DO", https://www.ncbi.nlm.nih.gov/pubmed/26955583 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 "DO"] synonym: "purpura gangrenosa" EXACT [] xref: EFO:1001913 xref: ICD10CM:D65 xref: MESH:D055665 xref: ORDO:49566 is_a: DOID:3326 ! purpura [Term] id: DOID:0060539 name: Hermansky-Pudlak syndrome 1 alt_id: MIM:203300 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)" [http://omim.org/entry/203300 "DO"] synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" EXACT [] synonym: "delta storage pool disease" EXACT [] synonym: "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS" BROAD [] synonym: "HPS1" EXACT [] synonym: "HPS1-RELATED CONDITION" EXACT [] xref: MESH:C538539 xref: NCI:C150367 is_a: DOID:3753 ! Hermansky-Pudlak syndrome is_a: DOID:9001386 ! Albinism [Term] id: DOID:0060540 name: Hermansky-Pudlak syndrome 2 alt_id: MIM:608233 def: "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)" [http://omim.org/entry/608233 "DO"] synonym: "Hermansky-Pudlak syndrome with neutropenia" EXACT [] synonym: "HPS2" EXACT [] synonym: "Platelet defects and oculocutaneous albinism" EXACT [] xref: MESH:C537709 xref: NCI:C150368 xref: ORDO:183678 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060541 name: Hermansky-Pudlak syndrome 3 def: "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO)" [http://omim.org/entry/614072 "DO"] synonym: "HPS3" EXACT [] xref: MIM:614072 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060542 name: Hermansky-Pudlak syndrome 4 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)" [http://omim.org/entry/614073 "DO"] synonym: "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS" BROAD [] synonym: "HPS4" EXACT [] synonym: "HPS4-RELATED CONDITION" EXACT [] xref: MIM:614073 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060543 name: Hermansky-Pudlak syndrome 5 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO)" [http://omim.org/entry/614074 "DO"] synonym: "HPS5" EXACT [] synonym: "HPS5-RELATED CONDITION" EXACT [] xref: MIM:614074 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060544 name: Hermansky-Pudlak syndrome 6 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)" [http://omim.org/entry/614075 "DO"] synonym: "HPS6" EXACT [] synonym: "HPS6-RELATED CONDITION" EXACT [] xref: MIM:614075 xref: NCI:C150369 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060545 name: Hermansky-Pudlak syndrome 7 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO)" [http://omim.org/entry/614076 "DO"] synonym: "DTNBP1-RELATED CONDITION" EXACT [] synonym: "HPS7" EXACT [] xref: MIM:614076 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060546 name: Hermansky-Pudlak syndrome 8 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO)" [http://omim.org/entry/614077 "DO"] synonym: "BLOC1S3-RELATED CONDITION" EXACT [] synonym: "HPS8" EXACT [] xref: MIM:614077 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060547 name: Hermansky-Pudlak syndrome 9 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO)" [http://omim.org/entry/614171 "DO"] synonym: "HPS9" EXACT [] xref: MIM:614171 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060548 name: luminal breast carcinoma A def: "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)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ "DO"] synonym: "breast tumor luminal" BROAD [] synonym: "luminal breast cancer" BROAD [] xref: EFO:0000306 xref: NCI:C53554 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060549 name: Barber-Say syndrome alt_id: MIM:209885 def: "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)" [https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27196381 "DO"] synonym: "BBRSAY" EXACT [] synonym: "BSS" EXACT [] synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" EXACT [] xref: GARD:819 xref: MESH:C537908 xref: ORDO:1231 is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:530 ! eyelid disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004507 ! Hirsutism is_a: DOID:9008205 ! Macrostomia [Term] id: DOID:0060550 name: ablepharon macrostomia syndrome alt_id: MIM:200110 def: "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)" [http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ "DO", https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/27196381 "DO"] synonym: "AMS" EXACT [] xref: GARD:3 xref: MESH:C535557 xref: ORDO:920 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008205 ! Macrostomia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060551 name: poikiloderma with neutropenia alt_id: MESH:C538345 alt_id: MIM:604173 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20734427 "DO"] synonym: "Navajo immune deficient poikiloderma" EXACT [] synonym: "Navajo Poikiloderma" EXACT [] synonym: "PN" EXACT [] synonym: "poikiloderma with neutropenia, Clericuzio-type" EXACT [] xref: GARD:4085 xref: MESH:C565820 xref: NCI:C177535 xref: ORDO:221046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1227 ! neutropenia is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060556 name: Kufor-Rakeb syndrome alt_id: MIM:606693 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/15986421 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23791710 "DO"] synonym: "ATP13A2-RELATED CONDITION" BROAD [] synonym: "autosomal recessive Parkinson's disease 9, juvenile-onset" EXACT [] synonym: "autosomal recessive Parkinson disease 9" EXACT [] synonym: "autosomal recessive Parkinson disease 9, juvenile onset" EXACT [] synonym: "KRPPD" EXACT [] synonym: "KRS" EXACT [] synonym: "pallidopyramidal degeneration with supranuclear upgaze paresis and dementia" EXACT [] synonym: "PARK9" EXACT [] synonym: "Parkinson's disease 9" EXACT [] synonym: "Parkinson disease 9" EXACT [] xref: MESH:C537177 xref: NCI:C203534 xref: ORDO:306674 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060557 name: ataxia with oculomotor apraxia type 3 def: "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)" [https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO"] synonym: "AOA3" EXACT [] synonym: "ataxia-oculomotor apraxia 3" EXACT [] xref: MIM:615217 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0060135 ! apraxia is_a: DOID:12704 ! ataxia telangiectasia is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060558 name: lethal congenital contracture syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22610851 "DO"] xref: GARD:12643 xref: ICD10CM:Q68.8 xref: MIM:PS253310 xref: ORDO:294965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0060559 name: lethal congenital contracture syndrome 1 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/9683599 "DO"] synonym: "GLE1-RELATED CONDITION" BROAD [] synonym: "GLE1-RELATED DISORDER" BROAD [] synonym: "LCCS" EXACT [] synonym: "LCCS1" EXACT [] synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" EXACT [] synonym: "LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE" EXACT [] synonym: "multiple contracture syndrome, Finnish type" EXACT [] xref: GARD:3227 xref: MESH:C537194 xref: MIM:253310 xref: MONDO:0009670 xref: ORDO:1486 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060560 name: lethal congenital contracture syndrome 2 alt_id: MIM:607598 def: "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15378541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17701904 "DO"] synonym: "LCCS2" EXACT [] synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [] synonym: "multiple contracture syndrome, Israeli Bedouin type A" EXACT [] xref: GARD:9177 xref: MESH:C564369 xref: ORDO:137776 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060562 name: anomalous left coronary artery from the pulmonary artery alt_id: MESH:D000080038 def: "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO)" [https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery "DO"] synonym: "ALCAPA" EXACT [] synonym: "ALCAPA syndrome" EXACT [] synonym: "ALCAPA syndromes" EXACT [] synonym: "Bland White Garland syndrome" EXACT [] synonym: "White-Garland syndrome" EXACT [] xref: MESH:D063748 is_a: DOID:11843 ! coronary artery anomaly is_a: DOID:9000018 ! Coronary Vessel Anomalies is_a: DOID:9003403 ! Arterio-Arterial Fistula [Term] id: DOID:0060563 name: Char syndrome alt_id: MIM:169100 def: "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)" [https://omim.org/entry/169100 "DO"] synonym: "CHAR" EXACT [] synonym: "Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits" EXACT [] xref: GARD:1237 xref: MESH:C566815 is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060564 name: spinal disease def: "A bone disease that is located_in the spine. (DO)" [https://en.wikipedia.org/wiki/Spinal_disease "DO"] synonym: "spinal diseases" EXACT [] xref: MESH:D013122 is_a: DOID:0080001 ! bone disease [Term] id: DOID:0060565 name: Ritscher-Schinzel syndrome def: "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)" [https://en.wikipedia.org/wiki/3C_syndrome "DO"] synonym: "3C syndrome" EXACT [] synonym: "CCC dysplasia" EXACT [] synonym: "Craniocerebellocardiac dysplasia" EXACT [] synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" EXACT [] synonym: "RTSC" EXACT [] xref: MESH:C535313 xref: MIM:PS220210 xref: ORDO:7 is_a: DOID:0050177 ! monogenic disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060566 name: Holzgreve-Wagner-Rehder syndrome alt_id: MIM:236110 alt_id: RDO:0000383 def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3232694 "DO"] synonym: "Complex congenital heart defect, renal agenesis, and cleft lip and palate" EXACT [] synonym: "Holzgreve syndrome" EXACT [] xref: MESH:C535327 xref: ORDO:2167 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060567 name: erythema elevatum diutinum def: "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)" [http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html "DO"] synonym: "Extracellular cholesterosis" EXACT [] synonym: "Leukocytoclastic vasculitis" EXACT [] xref: GARD:8653 xref: ICD10CM:L95.1 xref: MESH:C535509 xref: ORDO:90000 xref: RDO:0000655 is_a: DOID:11450 ! allergic cutaneous vasculitis [Term] id: DOID:0060569 name: hypertrichotic osteochondrodysplasia Cantu type alt_id: MIM:239850 def: "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO)" [https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome "DO", https://ghr.nlm.nih.gov/condition/cantu-syndrome "DO"] synonym: "Cantu syndrome" EXACT [] synonym: "Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome" EXACT [] synonym: "Hypertrichotic osteochondrodysplasia" EXACT [] xref: GARD:8585 xref: MESH:C535572 xref: RDO:0000771 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:420 ! hypertrichosis is_a: DOID:9003936 ! Cardiomegaly [Term] id: DOID:0060570 name: cardiac tuberculosis def: "A tuberculosis located in the heart. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28814447/ "DO"] synonym: "cardiovascular tuberculoses" EXACT [] synonym: "cardiovascular tuberculosis" EXACT [] xref: EFO:1001442 xref: MESH:D014381 is_a: DOID:114 ! heart disease is_a: DOID:399 ! tuberculosis is_a: DOID:9003237 ! Cardiovascular Infections [Term] id: DOID:0060571 name: Ritscher-Schinzel syndrome 1 def: "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24065355 "DO"] synonym: "RTSC1" EXACT [] synonym: "WASHC5-RELATED CONDITION" BROAD [] xref: MIM:220210 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060565 ! Ritscher-Schinzel syndrome created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060572 name: Ritscher-Schinzel syndrome 2 def: "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24916641 "DO"] synonym: "CCDC22-RELATED CONDITION" EXACT [] synonym: "RTSC2" EXACT [] xref: MIM:300963 is_a: DOID:0060565 ! Ritscher-Schinzel syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:0060573 name: von Willebrand's disease 1 alt_id: MIM:193400 alt_id: OMIA:001057 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16889557 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8456432 "DO"] synonym: "von Willebrand disease I" EXACT [] synonym: "von Willebrand disease type 1" EXACT [] synonym: "von Willebrand disease type 1, susceptibility to" RELATED [] synonym: "von Willebrand disease type I" EXACT [] synonym: "VWD1" EXACT [] synonym: "VWD, TYPE 1" EXACT [] xref: ICD10CM:D68.01 xref: MESH:D056725 xref: NCI:C131685 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0060574 name: von Willebrand's disease 2 alt_id: MIM:613554 alt_id: OMIA:001339 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20409624 "DO"] synonym: "Type IIA von Willebrand Disease" EXACT [] synonym: "Type IIB von Willebrand Disease" EXACT [] synonym: "Type IIM von Willebrand Disease" EXACT [] synonym: "Type IIN von Willebrand Disease" EXACT [] synonym: "Type II von Willebrand Disease" EXACT [] synonym: "Von Willebrand disease II" EXACT [] synonym: "von Willebrand disease, type 2" EXACT [] synonym: "von Willebrand disease, type 2A" NARROW [] synonym: "von Willebrand disease, type 2B" NARROW [] synonym: "von Willebrand disease, type 2M" NARROW [] synonym: "von Willebrand disease, type 2N" NARROW [] synonym: "VON WILLEBRAND FACTOR POLYMORPHISM" RELATED [] synonym: "VWD2" EXACT [] synonym: "VWD2A" NARROW [] synonym: "VWD2B" NARROW [] synonym: "VWD2M" NARROW [] synonym: "VWD2N" NARROW [] synonym: "VWD type 2" EXACT [] xref: ICD10CM:D68.02 xref: MESH:D056728 xref: ORDO:166081 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0060575 name: 3MC syndrome 1 alt_id: MIM:257920 def: "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)" [https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO", https://www.omim.org/entry/257920 "DO"] synonym: "3MC1" EXACT [] synonym: "craniosynostosis with lid anomalies" EXACT [] synonym: "Michels syndrome" EXACT [] synonym: "oculopalatoskeletal syndrome" EXACT [] xref: EFO:1001978 xref: MESH:C537738 is_a: DOID:0060225 ! 3MC syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060576 name: 3MC syndrome 2 alt_id: MIM:265050 def: "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)" [https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO", https://www.omim.org/entry/265050 "DO"] synonym: "3MC2" EXACT [] synonym: "Carnevale Krajewska Fischetto syndrome" EXACT [] synonym: "Carnevale Syndrome" EXACT [] synonym: "oculo-skeletal-abdominal syndrome" EXACT [] synonym: "OSA Syndrome" EXACT [] synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" EXACT [] xref: EFO:1001977 xref: MESH:C535586 is_a: DOID:0060225 ! 3MC syndrome is_a: DOID:0060260 ! ptosis is_a: DOID:11383 ! cryptorchidism is_a: DOID:540 ! strabismus is_a: DOID:9005560 ! Congenital Hip Dislocation [Term] id: DOID:0060577 name: 3MC syndrome 3 def: "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258343 "DO"] synonym: "3MC3" EXACT [] synonym: "facial clefting syndrome, Gypsy type" EXACT [] synonym: "Malpuech facial clefting syndrome" EXACT [] synonym: "Malpuech syndrome" EXACT [] xref: MESH:C535704 xref: MIM:248340 xref: MONDO:0009554 is_a: DOID:0060225 ! 3MC syndrome is_a: DOID:1682 ! congenital heart disease is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060578 name: Noonan syndrome 1 def: "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18203203 "DO"] synonym: "Noonan syndrome type 1" EXACT [] synonym: "NS1" EXACT [] xref: MIM:163950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0060580 name: Noonan syndrome 2 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/5782826 "DO"] synonym: "Noonan syndrome, autosomal recessive" BROAD [] synonym: "NS2" EXACT [] xref: MESH:C548081 xref: MIM:605275 xref: MONDO:0011531 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060581 name: Noonan syndrome 3 alt_id: MIM:609942 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474405 "DO"] synonym: "NS3" EXACT [] xref: MESH:C537847 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060582 name: Noonan syndrome 4 alt_id: MIM:610733 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19438935 "DO"] synonym: "NS4" EXACT [] synonym: "SOS1-RELATED CONDITION" BROAD [] xref: MESH:C548082 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060583 name: Noonan syndrome 5 alt_id: MIM:611553 def: "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603483 "DO"] synonym: "NS5" EXACT [] xref: MESH:C548083 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060584 name: Noonan syndrome 6 alt_id: MIM:613224 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19966803 "DO"] synonym: "NS6" EXACT [] xref: MESH:C548084 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060585 name: Noonan syndrome 7 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19206169 "DO"] synonym: "NS7" EXACT [] xref: MIM:613706 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060586 name: Noonan syndrome 8 def: "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24939608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124994 "DO"] synonym: "NS8" EXACT [] synonym: "RIT1-RELATED CONDITION" EXACT [] xref: MIM:615355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060587 name: Noonan syndrome 9 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25795793 "DO"] synonym: "NS9" EXACT [] synonym: "SOS2-RELATED CONDITION" EXACT [] xref: MIM:616559 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060588 name: Noonan syndrome 10 alt_id: RDO:9001517 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25795793 "DO"] synonym: "AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1" EXACT [] synonym: "LZTR1-related disorder" RELATED [] synonym: "NS10" EXACT [] xref: MIM:616564 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060589 name: Yunis-Varon syndrome alt_id: MIM:216340 alt_id: RDO:0002382 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/23623387 "DO"] synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [] synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [] synonym: "YVS" EXACT [] xref: GARD:331 xref: MESH:C536719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13994 ! cleidocranial dysplasia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0060590 name: XFE progeroid syndrome alt_id: MIM:610965 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17183314 "DO"] synonym: "XFEPS" EXACT [] synonym: "XPF-ERCC1 Progeroid Syndrome" EXACT [] xref: GARD:10628 xref: MESH:C567043 xref: NCI:C173111 is_a: DOID:0050427 ! xeroderma pigmentosum is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:2962 ! Cockayne syndrome [Term] id: DOID:0060591 name: WHIM syndrome 1 def: "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)" [https://en.wikipedia.org/wiki/WHIM_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10767001 "DO"] synonym: "CXCR4-RELATED CONDITION" EXACT [] synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1" EXACT [] synonym: "WHIMS1" EXACT [] synonym: "WHIM syndrome 1" EXACT [] xref: GARD:9297 xref: MESH:C536697 xref: MIM:193670 xref: MONDO:8000006 xref: NCI:C176819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3178 ! skin papilloma is_a: DOID:9004715 ! WHIM Syndrome [Term] id: DOID:0060592 name: B-cell adult acute lymphocytic leukemia def: "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 "DO"] synonym: "adult B acute lymphoblastic leukaemia" EXACT [] synonym: "adult B acute lymphoblastic leukemia" EXACT [] synonym: "adult b-cell acute lymphoblastic leukaemia" EXACT [] synonym: "adult b-cell acute lymphoblastic leukemia" EXACT [] synonym: "adult b-cell lymphocytic leukaemia" EXACT [] synonym: "adult b-cell lymphocytic leukemia" EXACT [] synonym: "adult B-lymphoblastic leukaemia" EXACT [] synonym: "adult B-lymphoblastic leukemia" EXACT [] synonym: "B-cell adult acute lymphocytic leukaemia" EXACT [] xref: EFO:1001935 xref: NCI:C9143 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma is_a: DOID:5604 ! adult acute lymphocytic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0060597 name: atypical chronic myeloid leukemia alt_id: DOID:8747 def: "A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL). (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29226717 "DO"] synonym: "aCML" EXACT [] synonym: "atypical chronic myeloid leukaemia" EXACT [] synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT [] synonym: "atypical chronic myeloid leukemia BCR-ABL1 negative" EXACT [] synonym: "atypical CML" EXACT [] synonym: "Ph1-negative myelogenous leukemia" EXACT [] synonym: "Ph1-negative myelogenous leukemias" EXACT [] synonym: "Ph1-negative myeloid leukemia" EXACT [] synonym: "Ph1-negative myeloid leukemias" EXACT [] synonym: "Philadelphia-negative myeloid leukemia" EXACT [] synonym: "Philadelphia-negative myeloid leukemias" EXACT [] synonym: "subacute myeloid leukemia" EXACT [] xref: ICD10CM:C92.2 xref: ICD9CM:205.2 xref: MESH:D054438 xref: NCI:C3176 xref: NCI:C3519 xref: ORDO:98824 is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:0060599 name: Nance-Horan syndrome alt_id: MIM:302350 def: "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)" [https://en.wikipedia.org/wiki/Nance-Horan_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2246772 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6467651 "DO"] synonym: "cataract-dental syndrome" EXACT [] synonym: "Mesiodens-Cataract syndrome" EXACT [] synonym: "NHS" EXACT [] synonym: "NHS-RELATED CONDITION" BROAD [] synonym: "X-linked cataract, with Hutchinsonian teeth" EXACT [] xref: GARD:7161 xref: MESH:C538336 xref: ORDO:627 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0060601 name: alpha-2-plasmin inhibitor deficiency alt_id: MIM:262850 alt_id: RDO:0003676 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11472338 "DO", https://www.ncbi.nlm.nih.gov/pubmed/156196 "DO"] synonym: "antiplasmin deficiency" EXACT [] synonym: "Anti-Plasmin Deficiency, Congenital" EXACT [] synonym: "Antiplasmin deficiency, congenital" EXACT [] synonym: "antiplasmin defiency" RELATED [] synonym: "plasmin inhibitor deficiency" EXACT [] xref: ICD10CM:D68.8 xref: MESH:C537777 xref: ORDO:79 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:0060602 name: alpha-methylacyl-CoA racemase deficiency alt_id: MIM:614307 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11861706 "DO"] synonym: "AMACRD" EXACT [] synonym: "AMACR Deficiency" EXACT [] xref: EFO:1001980 xref: MESH:C565768 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:863 ! nervous system disease is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0060603 name: isolated anhidrosis with normal sweat glands def: "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2401610 "DO"] synonym: "ANHD" EXACT [] synonym: "Dann-Epstein-Sohar syndrome" EXACT [] xref: MIM:106190 is_a: DOID:11156 ! anhidrosis [Term] id: DOID:0060604 name: ankyloglossia alt_id: MIM:106280 def: "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)" [https://en.wikipedia.org/wiki/Ankyloglossia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18983637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5251442 "DO"] synonym: "Ankyloglossias" EXACT [] synonym: "partial ankyloglossia" EXACT [] synonym: "partial ankyloglossias" EXACT [] synonym: "tongue tie" EXACT [] synonym: "tongue ties" EXACT [] xref: ICD10CM:Q38.1 xref: MESH:D000072676 is_a: DOID:10944 ! tongue disease [Term] id: DOID:0060606 name: fetal nicotine spectrum disorder def: "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20363831 "DO"] is_a: DOID:0060038 ! specific developmental disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060608 name: microcephalic osteodysplastic primordial dwarfism type I alt_id: MIM:210710 def: "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)" [http://omim.org/entry/210710 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22302400 "DO"] synonym: "brachymelic primordial dwarfism" EXACT [] synonym: "cephaloskeletal dysplasia" EXACT [] synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism type 1" EXACT [] synonym: "Mopd 1" EXACT [] synonym: "Mopd1" EXACT [] synonym: "Mopd I" EXACT [] synonym: "MopdI" EXACT [] synonym: "osteodysplastic primordial dwarfism, type 1" EXACT [] synonym: "osteodysplastic primordial dwarfism, type I" EXACT [] synonym: "TALS" EXACT [] synonym: "Taybi Linder syndrome" EXACT [] xref: GARD:5120 xref: MESH:C537577 xref: ORDO:2636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism [Term] id: DOID:0060609 name: microcephalic osteodysplastic primordial dwarfism type II alt_id: MIM:210720 def: "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)" [http://omim.org/entry/210720 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7551160 "DO"] synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" EXACT [] synonym: "MOPD2" EXACT [] synonym: "MOPD II" EXACT [] synonym: "MOPDII" EXACT [] synonym: "osteodysplastic primordial dwarfism, type 2" EXACT [] synonym: "osteodysplastic primordial dwarfism type II" EXACT [] synonym: "PCNT-RELATED CONDITION" EXACT [] xref: MESH:C565898 xref: ORDO:2637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism [Term] id: DOID:0060610 name: megacystis-microcolon-intestinal hypoperistalsis syndrome alt_id: MESH:C563597 alt_id: MIM:155310 def: "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO)" [https://en.wikipedia.org/wiki/Berdon_syndrome "DO", https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21792650 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25407000 "DO"] synonym: "Berdon syndrome" EXACT [] synonym: "idiopathic intestinal pseudoobstruction" EXACT [] synonym: "infantile visceral myopathy" EXACT [] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT [] synonym: "megaduodenum and/or megacystis" EXACT [] synonym: "MMIH" EXACT [] synonym: "visceral myopathy" EXACT [] synonym: "VSCM" EXACT [] xref: MESH:C536138 xref: MIM:PS249210 xref: NCI:C98982 xref: ORDO:2241 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:225 ! syndrome is_a: DOID:9002025 ! Familial Visceral Myopathy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060611 name: abdominal obesity-metabolic syndrome def: "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)" [https://pubmed.ncbi.nlm.nih.gov/17167477/ "DO"] xref: MESH:C535554 xref: MIM:PS605552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006646 ! Metabolic Syndrome is_a: DOID:9007772 ! Abdominal Obesity [Term] id: DOID:0060612 name: abdominal obesity-metabolic syndrome 3 alt_id: RDO:9001051 def: "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO)" [http://omim.org/entry/615812 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24827035 "DO"] synonym: "AOMS3" EXACT [] synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" EXACT [] synonym: "DYRK1B-RELATED CONDITION" EXACT [] xref: MIM:615812 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome [Term] id: DOID:0060613 name: X-linked cleft palate with or without ankyloglossia alt_id: MIM:303400 def: "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14729838 "DO"] synonym: "CPX" EXACT [] synonym: "X-linked cleft palate" EXACT [] synonym: "X-linked cleft palate and ankyloglossia" EXACT [] xref: MESH:C536426 xref: ORDO:324601 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:674 ! cleft palate [Term] id: DOID:0060614 name: ulnar-mammary syndrome alt_id: MIM:181450 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/8595424 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8923944 "DO"] synonym: "Pallister ulnar-mammary syndrome" EXACT [] synonym: "Schinzel syndrome" EXACT [] synonym: "TBX3-RELATED CONDITION" EXACT [] synonym: "ulnar-mammary syndrome of Pallister" EXACT [] synonym: "UMS" EXACT [] xref: GARD:118 xref: MESH:C536937 xref: ORDO:3138 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:3463 ! breast disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060638 name: neonatal diabetes mellitus with congenital hypothyroidism alt_id: MIM:610199 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16715098 "DO"] synonym: "NDH" EXACT [] synonym: "NDH syndrome" EXACT [] xref: MESH:C565705 xref: ORDO:79118 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060639 name: permanent neonatal diabetes mellitus def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17213273 "DO"] synonym: "DEND" NARROW [] synonym: "developmental delay, epilepsy, and neonatal diabetes" NARROW [] synonym: "PDMI" EXACT [] synonym: "permanent diabetes mellitus, of infancy" EXACT [] synonym: "permanent neonatal diabetes mellitus (PNDM)" EXACT [] synonym: "permanent neonatal diabetes mellitus, with neurologic features" NARROW [] synonym: "PNDM" EXACT [] xref: GARD:10457 xref: MESH:C563425 xref: MIM:PS606176 xref: NCI:C114902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060640 name: ethylmalonic encephalopathy alt_id: MIM:602473 def: "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)" [https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy "DO", https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/20528888 "DO"] synonym: "EE" EXACT [] synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" EXACT [] synonym: "Epema Syndrome" EXACT [] synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" EXACT [] xref: GARD:2198 xref: MESH:C535737 xref: ORDO:51188 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060641 name: endocrine-cerebro-osteodysplasia syndrome alt_id: MIM:612651 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/19185282 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24853502 "DO"] synonym: "DYSPLASTIC CORPUS CALLOSUM" NARROW [] synonym: "ECO" EXACT [] synonym: "ECO syndrome" EXACT [] synonym: "endocrine-cerebroosteodysplasia" EXACT [] xref: MESH:C567210 xref: ORDO:199332 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0060642 name: recessive dystrophic epidermolysis bullosa def: "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)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa "DO", https://www.ncbi.nlm.nih.gov/pubmed/3307723 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8513326 "DO"] synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [] synonym: "autosomal recessive epidermolysis bullosa dystrophica inversa" EXACT [] synonym: "RDEB, Hallopeau-Siemens type" EXACT [] synonym: "severe generalized RDEB" NARROW [] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [] xref: ICD10CM:Q81.2 xref: MESH:C567122 xref: ORDO:79408 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0060643 name: primary sclerosing cholangitis def: "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7877651 "DO"] synonym: "primary sclerosing cholangitides" EXACT [] synonym: "PSC" EXACT [] xref: GARD:1280 xref: ICD10CM:K83.01 xref: MIM:613806 xref: NCI:C4828 xref: ORDO:171 is_a: DOID:14268 ! sclerosing cholangitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060644 name: chondrodysplasia-pseudohermaphroditism syndrome def: "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1342874 "DO"] synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [] synonym: "chondrodysplasia pseudohermaphrodism syndrome" EXACT [] synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [] synonym: "NNMS" EXACT [] synonym: "pseudohermaphrodism and chondrodysplasia" EXACT [] xref: MESH:C536123 xref: MIM:600092 xref: MONDO:0010814 xref: ORDO:1422 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:0060645 name: chronic recurrent multifocal osteomyelitis def: "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)" [https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/11973628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4403064 "DO", https://www.nomidalliance.org/crmo.php "DO"] synonym: "chronic multifocal osteomyelitis" EXACT [] synonym: "chronic osteomyelitis" EXACT [] synonym: "CMO" EXACT [] synonym: "CRMO" EXACT [] xref: GARD:6108 xref: ICD10CM:M86.3 xref: MESH:C535456 xref: MIM:PS609628 xref: MONDO:0009813 xref: ORDO:324964 is_a: DOID:0060564 ! spinal disease is_a: DOID:1019 ! osteomyelitis [Term] id: DOID:0060646 name: congenital chylothorax alt_id: MIM:603523 def: "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)" [https://en.wikipedia.org/wiki/Chylothorax "DO", https://www.ncbi.nlm.nih.gov/pubmed/416049 "DO"] synonym: "congenital hydrothorax" EXACT [] xref: MESH:C535461 xref: ORDO:264688 is_a: DOID:0080015 ! physical disorder is_a: DOID:9007840 ! Chylothorax [Term] id: DOID:0060647 name: fetal encasement syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20961246 "DO"] synonym: "cocoon syndrome" EXACT [] xref: MIM:613630 xref: ORDO:465824 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060648 name: anterior segment dysgenesis alt_id: DOID:0060605 def: "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)" [https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "DO"] synonym: "anterior segment anomalies" EXACT [] synonym: "anterior segment anomalies and cataract" NARROW [] synonym: "anterior segment developmental anomaly" EXACT [] synonym: "anterior segment mesenchymal dysgenesis" EXACT [] synonym: "anterior segment ocular dysgenesis" EXACT [] synonym: "ASMD" EXACT [] synonym: "ASOD" EXACT [] synonym: "corneal opacification and other ocular anomalies" EXACT [] synonym: "corneal opacification with other ocular anomalies" EXACT [] synonym: "sclerocornea with other ocular anomalie" EXACT [] synonym: "sclerocornea with other ocular anomalies" EXACT [] xref: GARD:10025 xref: MESH:C537775 xref: MIM:PS107250 xref: ORDO:88632 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060252 ! sclerocornea is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060649 name: congenital hereditary endothelial dystrophy of cornea alt_id: MIM:217700 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16767101 "DO"] synonym: "CHED" EXACT [] synonym: "CHED2" EXACT [] synonym: "congenital hereditary endothelial dystrophy of the cornea" EXACT [] synonym: "corneal dystrophy, congenital hereditary endothelial" EXACT [] synonym: "corneal endothelial dystrophy 2" EXACT [] synonym: "corneal endothelial dystrophy 2, autosomal recessive" EXACT [] synonym: "corneal endothelial dystrophy type 2" EXACT [] xref: MESH:C536439 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060650 name: dicarboxylic aminoaciduria alt_id: MIM:222730 def: "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18200002/ "DO"] synonym: "DCBXA" EXACT [] synonym: "Dicarboxylic amino aciduria" EXACT [] synonym: "Dicarboxylicamino Aciduria" EXACT [] synonym: "dicarboxylicaminoaciduria" EXACT [] synonym: "Glutamate and aspartate transport defect" EXACT [] synonym: "glutamate-aspartate transport defect" EXACT [] synonym: "inborn error of glutamic and aspartate transport" EXACT [] xref: GARD:1855 xref: MESH:C536171 xref: ORDO:2195 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060651 name: MYH-9 related disease alt_id: MIM:155100 alt_id: OMIA:001608 def: "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)" [https://ghr.nlm.nih.gov/condition/myh9-related-disorder "DO", https://www.ncbi.nlm.nih.gov/pubmed/21567368 "DO"] synonym: "Alport syndrome with leukocyte inclusions and macrothrombocytopenia" EXACT [] synonym: "Alport syndrome with macrothrombocytopenia" EXACT [] synonym: "APSM" EXACT [] synonym: "autosomal dominant MYH9 spectrum disorders" EXACT [] synonym: "BDPLT6" EXACT [] synonym: "bleeding disorder, platelet-type, 6" EXACT [] synonym: "Brodie Chole Griffin syndrome" EXACT [] synonym: "Dohle leukocyte inclusions with giant platelets" EXACT [] synonym: "Epstein syndrome" EXACT [] synonym: "EPSTNS" EXACT [] synonym: "Fechtner's syndrome" EXACT [] synonym: "Fechtner syndrome" EXACT [] synonym: "FTNS" EXACT [] synonym: "macrothrombocytopathy, nephritis, and deafness" EXACT [] synonym: "Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions" EXACT [] synonym: "MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS" EXACT [] synonym: "Macrothrombocytopenia and Progressive Sensorineural Deafness" EXACT [] synonym: "macrothrombocytopenia, nephritis, and deafness" EXACT [] synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" EXACT [] synonym: "macrothrombocytopenia, progressive deafness" EXACT [] synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" EXACT [] synonym: "macrothrombocytopenia with leukocyte inclusions" EXACT [] synonym: "MATINS" EXACT [] synonym: "May-Hegglin anomaly" EXACT [] synonym: "MHA" EXACT [] synonym: "MYH9 gene-related autosomal macrothrombocytopenias" EXACT [] synonym: "MYH9RD" EXACT [] synonym: "MYH9-RELATED CONDITION" BROAD [] synonym: "MYH9-related disorder" EXACT [] synonym: "MYH9-related disorders" EXACT [] synonym: "MYH9-related macrothrombocytopenias" EXACT [] synonym: "SBS" EXACT [] synonym: "Sebastian platelet syndrome" EXACT [] synonym: "Sebastian syndrome" EXACT [] xref: EFO:0009646 xref: MESH:C535507 xref: MESH:C537831 xref: NCI:C158788 xref: ORDO:182050 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0060652 name: familial erythrocytosis 1 alt_id: MIM:133100 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/9292543 "DO"] synonym: "autosomal dominant benign erythrocytosis" EXACT [] synonym: "benign familial polycythemia" EXACT [] synonym: "congenital erythrocytosis" EXACT [] synonym: "ECYT1" EXACT [] synonym: "hereditary erythrocytosis" EXACT [] synonym: "PFCP" EXACT [] synonym: "primary familial and congenital polycythemia" EXACT [] synonym: "primary familial polycythemia" EXACT [] xref: ICD10CM:D75.0 xref: MESH:C536842 xref: ORDO:90042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0060653 name: lethal congenital contracture syndrome 3 alt_id: MIM:611369 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701898 "DO"] synonym: "LCCS3" EXACT [] synonym: "multiple contractural syndrome, Israeli Bedouin type B" EXACT [] synonym: "multiple contracture syndrome, Israeli Bedouin type B" EXACT [] xref: MESH:C566961 xref: ORDO:137783 is_a: DOID:0060558 ! lethal congenital contracture syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:9006836 ! Contracture [Term] id: DOID:0060654 name: lethal congenital contracture syndrome 4 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22610851 "DO"] synonym: "LCCS4" EXACT [] xref: GARD:12645 xref: MIM:614915 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060655 name: autosomal recessive congenital ichthyosis alt_id: DOID:1699 def: "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)" [https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "DO"] synonym: "alligator skin" EXACT [] synonym: "ARCI" EXACT [] synonym: "congenital ichthyosiform erythroderma" EXACT [] synonym: "congenital ichthyosiform erythroderma, dry type" EXACT [] synonym: "congenital ichthyosiform erythrodermas" EXACT [] synonym: "congenital ichthyosiform erythroderma, wet type" EXACT [] synonym: "CONGENITAL ICHTHYOSIS OF SKIN" BROAD [] synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [] synonym: "congenital nonbullous ichthyosiform erythroderma" EXACT [] synonym: "ichthyosiform erythroderma" EXACT [] synonym: "lamellar desquamation of the newborn" RELATED [] synonym: "lamellar ichthyose" EXACT [] synonym: "lamellar ichthyoses" EXACT [] synonym: "lamellar ichthyosis" EXACT [] synonym: "nonbullous congenital lamellar ichthyosis" EXACT [] synonym: "nonbullous erythroderma ichthyosiforme" EXACT [] xref: MESH:D016113 xref: MIM:PS242300 xref: NCI:C84805 xref: ORDO:281097 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1697 ! ichthyosis is_a: DOID:9007168 ! Genetic Skin Diseases created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060656 name: autosomal recessive congenital ichthyosis 1 alt_id: MIM:242300 alt_id: OMIA:000546 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/7824952 "DO"] synonym: "ARCI1" EXACT [] synonym: "AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1" EXACT [] synonym: "bathing suit ichthyosis" EXACT [] synonym: "collodion baby syndrome" EXACT [] synonym: "collodion baby syndromes" EXACT [] synonym: "collodion fetus" EXACT [] synonym: "desquamation of newborn" EXACT [] synonym: "ichthyosis congenita" EXACT [] synonym: "ichthyosis congenita I" EXACT [] synonym: "Ichthyosis Congenita II" EXACT [] synonym: "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION" EXACT [] synonym: "Ichthyosis, Lamellar, 1" EXACT [] synonym: "Ichthyosis, TGM1-related" EXACT [] synonym: "ICR2" EXACT [] synonym: "Lamellar Exfoliation of Newborn" EXACT [] synonym: "lamellar ichthyosis type 1" EXACT [] synonym: "LI1" EXACT [] synonym: "newborn desquamation" EXACT [] synonym: "newborn desquamations" EXACT [] synonym: "newborn lamellar exfoliation" EXACT [] synonym: "newborn lamellar exfoliations" EXACT [] synonym: "self-healing collodion baby" EXACT [] synonym: "SHCB" EXACT [] xref: GARD:3170 xref: MESH:D017490 xref: ORDO:100976 xref: ORDO:281122 xref: ORDO:313 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060668 name: anencephaly def: "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)" [https://en.wikipedia.org/wiki/Anencephaly "DO", https://ghr.nlm.nih.gov/condition/anencephaly "DO"] synonym: "anencephalia" EXACT [] synonym: "anencephalias" EXACT [] synonym: "anencephalus" EXACT [] synonym: "ANPH" EXACT [] synonym: "aprosencephalies" EXACT [] synonym: "Aprosencephaly" EXACT [] synonym: "brain congenital absence" EXACT [] synonym: "congenital absence of brain" EXACT [] synonym: "hemicranial anencephaly" EXACT [] synonym: "incomplete anencephaly" EXACT [] synonym: "partial anencephalies" EXACT [] synonym: "partial anencephaly" EXACT [] xref: GARD:5808 xref: ICD10CM:Q00.0 xref: MESH:D000757 xref: MIM:PS206500 xref: NCI:C84560 xref: ORDO:1048 is_a: DOID:0080074 ! neural tube defect is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004061 ! Abnormalities, Severe Teratoid [Term] id: DOID:0060669 name: cerebral cavernous malformation def: "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)" [http://hmg.oxfordjournals.org/content/18/5/919.long "DO", https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation "DO"] synonym: "brain cavernous hemangioma" EXACT [] synonym: "brain cavernous hemangiomas" EXACT [] synonym: "CAM" EXACT [] synonym: "Cavernous Angioma, Central Nervous System" EXACT [] synonym: "Cavernous Angiomatous Malformation" EXACT [] synonym: "cavernous angiomatous malformations" EXACT [] synonym: "cavernous hemangioma, central nervous system" EXACT [] synonym: "Cavernous Hemangioma of Brain" EXACT [] synonym: "CAVERNOUS MALFORMATIONS OF CNS AND RETINA" NARROW [] synonym: "CCM" EXACT [] synonym: "Cerebral Capillary Malformation" EXACT [] synonym: "cerebral capillary malformations" EXACT [] synonym: "Cerebral Cavernous Hemangioma" EXACT [] synonym: "cerebral cavernous hemangiomas" EXACT [] synonym: "cerebral cavernous malformations" EXACT [] synonym: "extracerebral cavernous hemangioma" EXACT [] synonym: "extracerebral cavernous hemangiomas" EXACT [] synonym: "familial cavernous angioma" EXACT [] synonym: "familial cavernous angiomas" EXACT [] synonym: "familial cavernous malformation" EXACT [] synonym: "familial cavernous malformations" EXACT [] synonym: "HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS" NARROW [] synonym: "intracerebral cavernous hemangioma" EXACT [] synonym: "intracerebral cavernous hemangiomas" EXACT [] xref: EFO:1001343 xref: MESH:D020786 xref: MIM:PS116860 xref: NCI:C84626 is_a: DOID:483 ! cavernous hemangioma is_a: DOID:501 ! central nervous system hemangioma is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:0060670 name: cerebral cavernous malformation 2 alt_id: MIM:603284 def: "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14624391 "DO"] synonym: "CCM2" EXACT [] synonym: "cerebral cavernous malformations 2" EXACT [] xref: MESH:C566394 xref: ORDO:221061 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0060671 name: cerebral cavernous malformation 3 alt_id: MIM:603285 def: "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15543491 "DO"] synonym: "CCM3" EXACT [] synonym: "cerebral cavernous malformations 3" EXACT [] xref: ICD10CM:Q28.3 xref: MESH:C566393 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0060672 name: GRN-related frontotemporal lobar degeneration with TDP43 inclusions def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16862116 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16983677 "DO"] synonym: "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED" EXACT [] synonym: "frontotemporal lobar degeneration with ubiquitin positive inclusions" EXACT [] synonym: "FTDU" EXACT [] synonym: "FTLD-TDP, GRN-related" EXACT [] synonym: "FTLDU" EXACT [] synonym: "HDDD aphasia, primary progressive" NARROW [] synonym: "hereditary dysphasic disinhibition dementia" NARROW [] synonym: "PPA" NARROW [] synonym: "ubiquitin-positive frontotemporal dementia" EXACT [] xref: ICD10CM:G31.0 xref: MIM:607485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060673 name: Peters anomaly def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11403040 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12614756 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8162071 "DO"] synonym: "irido-corneo-trabecular dysgenesis" NARROW [] xref: GARD:7377 xref: ICD10CM:Q13.4 xref: MESH:C537884 xref: ORDO:708 is_a: DOID:0080610 ! anterior segment dysgenesis 5 is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:0060674 name: catecholaminergic polymorphic ventricular tachycardia def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK1289 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "DO"] synonym: "bidirectional tachycardia induced by catecholamines" EXACT [] synonym: "catecholamine-induced polymorphic ventricular tachycardia" EXACT [] synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [] synonym: "VTSIP" RELATED [] xref: EFO:0004692 xref: MESH:C536334 xref: MIM:PS604772 xref: ORDO:3286 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:9005141 ! Ventricular Tachycardia [Term] id: DOID:0060675 name: catecholaminergic polymorphic ventricular tachycardia 1 alt_id: DOID:0110071 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/12093772 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy type 2" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT [] synonym: "ARVC2" EXACT [] synonym: "ARVD2" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [] synonym: "CPVT1" EXACT [] synonym: "CVPT1" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT [] synonym: "RYR2-RELATED CONDITION" BROAD [] synonym: "stress-induced polymorphic ventricular tachycardia 1" EXACT [] synonym: "VTSIP1" EXACT [] xref: MESH:C563409 xref: MIM:604772 xref: MONDO:0011484 xref: NCI:C123414 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0060676 name: catecholaminergic polymorphic ventricular tachycardia 2 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11401939 "DO"] synonym: "CPVT2" EXACT [] synonym: "CVPT2" EXACT [] synonym: "ventricular tachycardia, stress-induced polymorphic 2" EXACT [] synonym: "VTSIP2" EXACT [] xref: ICD10CM:I47.2 xref: MIM:611938 xref: MONDO:0012762 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060677 name: catecholaminergic polymorphic ventricular tachycardia 3 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17666061 "DO"] synonym: "CPVT3" EXACT [] synonym: "CVPT3" EXACT [] synonym: "TECRL-RELATED CONDITION" EXACT [] xref: MIM:614021 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060678 name: catecholaminergic polymorphic ventricular tachycardia 4 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/23040497 "DO"] synonym: "CPVT4" EXACT [] synonym: "CVPT4" EXACT [] xref: MIM:614916 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060679 name: catecholaminergic polymorphic ventricular tachycardia 5 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22422768 "DO"] synonym: "CARDAR" EXACT [] synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness" EXACT [] synonym: "CPVT5" EXACT [] synonym: "CVPT5" EXACT [] xref: MIM:615441 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0060680 name: pigment dispersion syndrome alt_id: MIM:600510 def: "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192392 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3947295 "DO"] synonym: "glaucoma-related pigment dispersion syndrome" EXACT [] synonym: "GPDS1" EXACT [] synonym: "PDS" EXACT [] synonym: "pigment-dispersion type glaucoma" EXACT [] xref: MESH:C563184 xref: MONDO:0010896 is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:225 ! syndrome [Term] id: DOID:0060681 name: autosomal dominant nocturnal frontal lobe epilepsy def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/7895015 "DO"] synonym: "Adnfle" EXACT [] synonym: "autosomal dominant epilepsy" EXACT [] synonym: "ENFL" EXACT [] synonym: "nocturnal epilepsy, frontal lobe type" EXACT [] synonym: "nocturnal frontal lobe epilepsy" EXACT [] xref: GARD:11918 xref: MESH:C579932 xref: MIM:PS600513 xref: ORDO:98784 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3331 ! frontal lobe epilepsy [Term] id: DOID:0060682 name: autosomal dominant nocturnal frontal lobe epilepsy 1 alt_id: MIM:600513 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7550350 "DO"] synonym: "CHRNA4-RELATED CONDITION" BROAD [] synonym: "ENFL1" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, 1" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 1" EXACT [] xref: MESH:C563930 xref: RDO:0013054 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060683 name: autosomal dominant nocturnal frontal lobe epilepsy 2 alt_id: MIM:603204 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9758605 "DO"] synonym: "ENFL2" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, 2" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 2" EXACT [] xref: MESH:C566400 xref: RDO:0014765 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060684 name: autosomal dominant nocturnal frontal lobe epilepsy 3 alt_id: RDO:0014001 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062464 "DO"] synonym: "ENFL3" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3" EXACT [] synonym: "nocturnal frontal lobe epilepsy 3" EXACT [] xref: MESH:C565334 xref: MIM:605375 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060685 name: autosomal dominant nocturnal frontal lobe epilepsy 4 alt_id: MIM:610353 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826524 "DO"] synonym: "ENFL4" EXACT [] synonym: "familial epilepsy with nocturnal wandering and ictal fear" EXACT [] synonym: "nocturnal frontal lobe epilepsy 4" EXACT [] synonym: "nocturnal frontal lobe epilepsy type 4" EXACT [] xref: MESH:C563679 is_a: DOID:0060169 ! benign familial infantile epilepsy is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy is_a: DOID:9007418 ! Somnambulism [Term] id: DOID:0060686 name: autosomal dominant nocturnal frontal lobe epilepsy 5 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23086396 "DO"] synonym: "ENFL5" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, 5" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 5" EXACT [] xref: MIM:615005 xref: RDO:9000290 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060688 name: arteriovenous malformations of the brain alt_id: MIM:108010 def: "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7193302 "DO"] synonym: "BAVM" EXACT [] synonym: "Cerebral Arteriovenous Malformation" EXACT [] synonym: "cerebral arteriovenous malformations" EXACT [] synonym: "CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO" NARROW [] synonym: "congenital intracranial arteriovenous malformations" EXACT [] synonym: "intracranial arteriovenous malformation" EXACT [] synonym: "intracranial arteriovenous malformations" EXACT [] synonym: "intracranial AVM (arteriovenous malformation)" EXACT [] synonym: "ruptured intracranial arteriovenous malformation" EXACT [] xref: EFO:0003916 xref: ICD10CM:Q28.2 xref: MESH:D002538 xref: MONDO:0007154 xref: ORDO:46724 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:13089 ! intracranial arterial disease is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:0060689 name: atrichia with papular lesions alt_id: MIM:209500 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/10205263 "DO"] synonym: "APL" EXACT [] synonym: "papular atrichia" EXACT [] xref: ICD10CM:L65.8 xref: MESH:C565924 xref: ORDO:86819 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:987 ! alopecia [Term] id: DOID:0060690 name: autosomal dominant auditory neuropathy 1 alt_id: MIM:609129 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/15520414 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20624953 "DO"] synonym: "auditory neuropathy, nonsyndromic dominant" EXACT [] synonym: "AUNA1" EXACT [] synonym: "DIAPH3-RELATED CONDITION" EXACT [] synonym: "NSDAN" EXACT [] xref: MESH:C563790 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy [Term] id: DOID:0060691 name: platelet-type bleeding disorder 16 alt_id: MIM:187800 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/18065693 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21454453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9834222 "DO"] synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT [] synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT [] synonym: "BDPLT16" EXACT [] synonym: "Glanzmann thrombasthenia-like with macrothromocytopenia 1" EXACT [] xref: MESH:C566061 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2219 ! Glanzmann's thrombasthenia [Term] id: DOID:0060692 name: platelet-type bleeding disorder 8 alt_id: MIM:609821 alt_id: OMIA:001564 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11196645 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20966167 "DO"] synonym: "ADP platelet receptor P2Y12 defect" EXACT [] synonym: "BDPLT8" EXACT [] synonym: "bleeding disorder due to P2RY12 defect" EXACT [] synonym: "bleeding disorder, P2RY12" EXACT [] synonym: "bleeding disorder, P2RY12-related" EXACT [] synonym: "IMPAIRED ADP-INDUCED PLATELET AGGREGATION" EXACT [] synonym: "P2Y12 defect" EXACT [] xref: MESH:C565220 xref: ORDO:36355 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0060693 name: Brunner syndrome alt_id: MIM:300615 alt_id: RDO:0012534 def: "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8211186 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8503438 "DO"] synonym: "ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO" NARROW [] synonym: "BRNRS" EXACT [] synonym: "MAOA-RELATED CONDITION" EXACT [] synonym: "monoamine oxidase A deficiency" EXACT [] xref: ICD10CM:E70.8 xref: MESH:C563156 xref: ORDO:3057 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10937 ! impulse control disorder is_a: DOID:225 ! syndrome is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060694 name: Cayman type cerebellar ataxia alt_id: MIM:601238 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/14556008 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8845847 "DO"] synonym: "ATCAY" EXACT [] synonym: "Cayman ataxia" EXACT [] synonym: "Cayman cerebellar ataxia" EXACT [] xref: ICD10CM:G11.0 xref: MESH:C563363 xref: ORDO:94122 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0060695 name: hyperekplexia alt_id: OMIA:001594 def: "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12427512 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1334371 "DO"] synonym: "congenital stiff man syndrome" EXACT [] synonym: "exagerrated startle reflex" EXACT [] synonym: "exaggerated startle reaction" EXACT [] synonym: "hyperekplexias" EXACT [] synonym: "Kok disease" EXACT [] synonym: "startle disease" EXACT [] synonym: "STHE" EXACT [] xref: GARD:3129 xref: MESH:D000071017 xref: MIM:PS149400 is_a: DOID:331 ! central nervous system disease is_a: DOID:9001480 ! Muscle Rigidity [Term] id: DOID:0060696 name: hyperekplexia 1 def: "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7881416 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8298642 "DO"] synonym: "GLRA1-RELATED CONDITION" EXACT [] synonym: "hereditary hyperekplexia 1" EXACT [] synonym: "HKPX1" EXACT [] xref: MIM:149400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060697 name: hyperekplexia 2 def: "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11929858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21391991 "DO"] synonym: "GLRB-RELATED CONDITION" EXACT [] synonym: "HKPX2" EXACT [] xref: ICD10CM:G25.8 xref: MIM:614619 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060698 name: hyperekplexia 3 def: "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16751771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22700964 "DO"] synonym: "HKPX3" EXACT [] xref: MIM:614618 xref: ORDO:3197 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060699 name: familial hypocalciuric hypercalcemia def: "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19809483 "DO"] synonym: "familial benign hypercalcemia" EXACT [] synonym: "familial benign hypocalciuric hypercalcemia" EXACT [] synonym: "FBH" EXACT [] synonym: "FBHH" EXACT [] synonym: "FHH" EXACT [] synonym: "NEPHROLITHIASIS/NEPHROCALCINOSIS" NARROW [] xref: GARD:10828 xref: MIM:PS145980 xref: NCI:C123262 xref: ORDO:405 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12678 ! hypercalcemia is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060700 name: familial hypocalciuric hypercalcemia 1 alt_id: MIM:145980 alt_id: RDO:0002925 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7916660 "DO"] synonym: "familial benign hypercalcemia 1" EXACT [] synonym: "familial benign hypercalcemia type 1" EXACT [] synonym: "familial hypocalciuric hypercalcemia, type 1" EXACT [] synonym: "familial hypocalciuric hypercalcemia, type I" EXACT [] synonym: "FBH1" EXACT [] synonym: "FHH1" EXACT [] synonym: "FHH type 1" EXACT [] synonym: "HHC1" EXACT [] synonym: "hypocalciuric hypercalcemia type I" EXACT [] xref: ICD10CM:E83.5 xref: MESH:C537145 xref: ORDO:93372 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060701 name: familial hypocalciuric hypercalcemia 2 alt_id: MIM:145981 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23802516 "DO"] synonym: "familial benign hypercalcemia, type 2" EXACT [] synonym: "familial benign hypercalcemia, type II" EXACT [] synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [] synonym: "familial hypocalciuric hypercalcemia, type II" EXACT [] synonym: "FBH2" EXACT [] synonym: "FHH type 2" EXACT [] synonym: "HHC2" EXACT [] synonym: "hypocalciuric hypercalcemia type II" EXACT [] xref: GARD:9758 xref: MESH:C537146 xref: ORDO:101049 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060702 name: familial hypocalciuric hypercalcemia 3 alt_id: MIM:600740 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23222959 "DO"] synonym: "familial benign hypercalcemia, Oklahoma type" EXACT [] synonym: "familial benign hypercalcemia, Oklahoma variant" EXACT [] synonym: "familial benign hypercalcemia, type III" EXACT [] synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [] synonym: "familial hypocalciuric hypercalcemia type III" EXACT [] synonym: "FBH3" EXACT [] synonym: "FHH type 3" EXACT [] synonym: "HHC3" EXACT [] synonym: "hypocalciuric hypercalcemia type III" EXACT [] xref: GARD:2878 xref: MESH:C537147 xref: ORDO:101050 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060703 name: Muenke syndrome alt_id: MIM:602849 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/18000976 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9042914 "DO"] synonym: "FGFR3-associated coronal synostosis" EXACT [] synonym: "FGFR3-related craniosynostosis" EXACT [] synonym: "MNKES" EXACT [] synonym: "Muenke nonsyndromic coronal craniosynostosis" EXACT [] synonym: "syndrome of coronal craniosynostosis" EXACT [] xref: GARD:7097 xref: MESH:C537369 xref: NCI:C84904 xref: ORDO:53271 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0060704 name: lymphoproliferative syndrome def: "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/198660 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22197273 "DO"] synonym: "Combined immunodeficiency due to ITK deficiency" EXACT [] synonym: "Duncan's syndrome" EXACT [] synonym: "Duncan disease" EXACT [] synonym: "EBV infection, severe, susceptibility to" RELATED [] synonym: "EBVS" EXACT [] synonym: "Epstein Barr Virus Induced Lymphoproliferative Disease In Males" EXACT [] synonym: "Epstein Barr Virus Infection, Familial Fatal" EXACT [] synonym: "Familial Fatal Epstein Barr Infection" EXACT [] synonym: "IMD5" EXACT [] synonym: "Immunodeficiency 5" EXACT [] synonym: "Immunodeficiency, X Linked Progressive Combined Variable" EXACT [] synonym: "INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO" EXACT [] synonym: "Lymphoproliferative Disorder" EXACT [] synonym: "lymphoproliferative disorders" EXACT [] synonym: "Lymphoproliferative disorders, susceptibility to" RELATED [] synonym: "LYP" EXACT [] synonym: "Purtilo Syndrome" EXACT [] synonym: "Purtilo Syndromes" EXACT [] synonym: "X Linked Lymphoproliferative Disease" EXACT [] synonym: "X-linked lymphoproliferative diseases" EXACT [] synonym: "X-linked lymphoproliferative disorder" EXACT [] synonym: "X-linked lymphoproliferative disorders" EXACT [] synonym: "X-linked lymphoproliferative syndrome" EXACT [] synonym: "X-linked lymphoproliferative syndromes" EXACT [] synonym: "XLP" EXACT [] synonym: "XLPD" EXACT [] xref: MESH:D008232 xref: MIM:PS308240 xref: ORDO:538963 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:75 ! lymphatic system disease is_a: DOID:9008463 ! Immunoproliferative Disorders [Term] id: DOID:0060705 name: X-linked lymphoproliferative syndrome 1 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/6283885 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9771704 "DO"] synonym: "SH2D1A-RELATED CONDITION" EXACT [] synonym: "XLP1" EXACT [] xref: GARD:7906 xref: MIM:308240 xref: NCI:C170434 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060706 name: X-linked lymphoproliferative syndrome 2 alt_id: MIM:300635 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17080092 "DO"] synonym: "XIAP deficiency" EXACT [] synonym: "XLP2" EXACT [] xref: GARD:10916 xref: ICD10CM:D82.3 xref: MESH:C564469 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060707 name: lymphoproliferative syndrome 1 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/19425169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21109689 "DO"] synonym: "EBV-associated lymphoproliferative syndrome, autosomal 1" EXACT [] synonym: "LPFS1" EXACT [] xref: MESH:C567815 xref: MIM:613011 xref: MONDO:0013081 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0060708 name: lymphoproliferative syndrome 2 alt_id: RDO:9000525 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22197273 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22801960 "DO"] synonym: "CD27 deficiency" EXACT [] synonym: "LPFS2" EXACT [] xref: ICD10CM:D47.9 xref: MIM:615122 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0060710 name: autosomal recessive congenital ichthyosis 2 alt_id: MIM:242100 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16116617 "DO"] synonym: "ALOX12B-RELATED CONDITION" EXACT [] synonym: "ARCI2" EXACT [] synonym: "COLLODION BABY, SELF-HEALING" EXACT [] synonym: "ichthyosiform erythroderma, BROCQ congenital, nonbullous form" EXACT [] synonym: "NCIE1" EXACT [] synonym: "Nonbullous congenital ichthyosiform erythroderma 1" EXACT [] xref: MESH:C538603 xref: NCI:C132827 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060711 name: autosomal recessive congenital ichthyosis 3 alt_id: MIM:606545 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11398099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO"] synonym: "ARCI3" EXACT [] synonym: "COLLODION BABY, SELF-HEALING" EXACT [] synonym: "Ichthyosis, congenital, autosomal recessive 3" EXACT [] synonym: "lamellar ichthyosis 5" EXACT [] synonym: "lamellar ichthyosis type 5" EXACT [] synonym: "LI5" EXACT [] xref: MESH:C564699 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060712 name: autosomal recessive congenital ichthyosis 4A alt_id: MIM:601277 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/10094194 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20672373 "DO"] synonym: "ARCI4A" EXACT [] synonym: "Ichthyosis congenita 2B" EXACT [] synonym: "ichthyosis congenita IIB" EXACT [] synonym: "ICR2B" EXACT [] synonym: "lamellar ichthyosis 2" EXACT [] synonym: "lamellar ichthyosis, type 2" EXACT [] synonym: "LI2" EXACT [] xref: MESH:C537264 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060713 name: autosomal recessive congenital ichthyosis 4B alt_id: MIM:242500 def: "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)" [https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21339420 "DO"] synonym: "ARCI4B" EXACT [] synonym: "harlequin baby syndrome" EXACT [] synonym: "harlequin fetus" EXACT [] synonym: "harlequin ichthyoses" EXACT [] synonym: "harlequin ichthyosis" EXACT [] synonym: "harlequin type ichthyosis" EXACT [] synonym: "harlequin type ichthyosis congenita" EXACT [] synonym: "harlequin type ichthyosis fetalis" EXACT [] synonym: "HI" EXACT [] synonym: "ichthyosis congenita, harlequin fetus type" EXACT [] synonym: "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN)" EXACT [] xref: ICD10CM:Q80.4 xref: MESH:C538424 xref: NCI:C98934 xref: ORDO:457 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060714 name: autosomal recessive congenital ichthyosis 5 alt_id: MESH:C565749 alt_id: MIM:604777 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/10712223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO"] synonym: "ARCI5" EXACT [] synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [] synonym: "ichthyosis congenita 3" EXACT [] synonym: "ichthyosis congenita III" EXACT [] synonym: "lamellar ichthyosis 3" EXACT [] synonym: "lamellar ichthyosis, type 3" EXACT [] synonym: "LI3" EXACT [] synonym: "NNCI" EXACT [] xref: MESH:C537265 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060715 name: autosomal recessive congenital ichthyosis 6 alt_id: OMIA:001980 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17557927 "DO"] synonym: "ARCI6" EXACT [] synonym: "autosomal recessive congenital ichthyosis, NIPAL4-related" EXACT [] synonym: "ichthyosis, NIPAL4-related" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:612281 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060716 name: autosomal recessive congenital ichthyosis 7 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16117785 "DO"] synonym: "ARCI7" EXACT [] xref: MIM:615022 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060717 name: autosomal recessive congenital ichthyosis 8 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/21439540 "DO"] synonym: "ARCI8" EXACT [] synonym: "lamellar ichthyosis 4" EXACT [] synonym: "late-onset lamellar ichthyosis" EXACT [] synonym: "LI4" EXACT [] xref: MIM:613943 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060718 name: autosomal recessive congenital ichthyosis 9 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/21093221 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23754960 "DO"] synonym: "ARCI9" EXACT [] xref: MIM:615023 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060719 name: autosomal recessive congenital ichthyosis 10 alt_id: OMIA:001588 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/22246504 "DO"] synonym: "ARCI10" EXACT [] synonym: "Ichthyosis, Golden Retriever" NARROW [] synonym: "Ichthyosis, PNPLA1-related" EXACT [] synonym: "PNPLA1-RELATED CONDITION" EXACT [] xref: MIM:615024 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060720 name: autosomal recessive congenital ichthyosis 11 alt_id: MESH:C536273 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/17273967 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18843291 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9450882 "DO"] synonym: "ARCI11" EXACT [] synonym: "ARIH" EXACT [] synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [] synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [] synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [] synonym: "ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis" EXACT [] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [] synonym: "ichthyosis-hypotrichosis syndrome" EXACT [] synonym: "IFAH" EXACT [] synonym: "IFAH syndrome" EXACT [] synonym: "IHS" EXACT [] xref: MIM:602400 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0060728 name: NGLY1-deficiency alt_id: MIM:615273 def: "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 1p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24651605 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27388694 "DO"] synonym: "CDDG" EXACT [] synonym: "CDDG1" EXACT [] synonym: "CDG1V" RELATED [] synonym: "CDG IV" RELATED [] synonym: "CDGIV" RELATED [] synonym: "congenital disorder of deglycosylation" EXACT [] synonym: "congenital disorder of deglycosylation 1" EXACT [] synonym: "congenital disorder of glycosylation 1V" RELATED [] synonym: "congenital disorder of glycosylation type Iv" RELATED [] synonym: "deficiency of N-glycanase 1" EXACT [] synonym: "NGLY1-CDDG" EXACT [] synonym: "NGLY1-RELATED CONDITION" EXACT [] xref: ICD10CM:E77.8 xref: MESH:C000626124 xref: NCI:C126746 xref: ORDO:404454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:0060730 name: torsion dystonia 1 alt_id: MIM:128100 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11912106 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288096 "DO"] synonym: "DYSTONIA 1, TORSION, LATE-ONSET" NARROW [] synonym: "DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES" NARROW [] synonym: "dystonia musculorum deformans 1" EXACT [] synonym: "dystonia musculorum deformans type 1" EXACT [] synonym: "DYT1" EXACT [] synonym: "early-onset generalized torsion dystonia" EXACT [] synonym: "Early-Onset Primary Dystonia" EXACT [] synonym: "Early onset torsion dystonia" EXACT [] synonym: "EOTD" EXACT [] synonym: "Oppenheim's dystonia" EXACT [] synonym: "Oppenheim dystonia" EXACT [] synonym: "primary torsion dystonia" EXACT [] synonym: "torsion dystonia 1, autosomal dominant" EXACT [] xref: MESH:C538005 xref: NCI:C118780 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0060731 name: congenital central hypoventilation syndrome def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11840487 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12640453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8135282 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696331 "DO"] synonym: "CCHS" EXACT [] synonym: "central hypoventilation syndrome, late-onset" NARROW [] synonym: "congenital central alveolar hypoventilation syndrome" EXACT [] synonym: "congenital central hypoventilation" EXACT [] synonym: "congenital failure of autonomic control" EXACT [] synonym: "congenital Ondine curse" EXACT [] synonym: "idiopathic congenital central alveolar hypoventilation" EXACT [] synonym: "OHD" NARROW [] synonym: "Ondine curse" EXACT [] synonym: "Ondine-Hirschsprung disease" EXACT [] synonym: "Ondine syndrome" EXACT [] synonym: "primary alveolar hypoventilation" EXACT [] xref: EFO:0020025 xref: GARD:8535 xref: ICD10CM:G47.3 xref: MESH:C536209 xref: MIM:PS209880 xref: NCI:C98889 xref: ORDO:661 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:9003671 ! Hypoventilation is_a: DOID:9220 ! central sleep apnea [Term] id: DOID:0060732 name: chromosome 9p deletion syndrome alt_id: MIM:158170 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/18452192 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4541805 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6985017 "DO"] synonym: "9p syndrome" EXACT [] synonym: "Alfi syndrome" EXACT [] synonym: "chromosome 9, monosomy 9p" EXACT [] synonym: "Monosomy 9p" EXACT [] synonym: "monosomy 9p syndrome" EXACT [] xref: MESH:C538024 xref: ORDO:261112 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060733 name: junctional epidermolysis bullosa with pyloric atresia alt_id: MIM:226730 alt_id: MIM:619817 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/16473856 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7545057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9185503 "DO"] synonym: "aplasia cutis congenita with gastrointestinal atresia" EXACT [] synonym: "Carmi syndrome" EXACT [] synonym: "EB-PA" EXACT [] synonym: "EB-PA-ACC" EXACT [] synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [] synonym: "epidermolysis bullosa with pyloric atresia" EXACT [] synonym: "ITGB4-RELATED CONDITION" BROAD [] synonym: "JEB5B" EXACT [] synonym: "JEB6" EXACT [] synonym: "JEB-PA" EXACT [] synonym: "junctional epidermolysis bullosa 5B, with pyloric atresia" EXACT [] synonym: "junctional epidermolysis bullosa 6 with pyloric atresia" EXACT [] synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [] synonym: "junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita" EXACT [] xref: ICD10CM:Q81.8 xref: MESH:C535377 xref: NCI:C162474 xref: ORDO:79403 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060735 name: epidermolysis bullosa simplex Dowling-Meara type def: "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)" [https://www.ncbi.nlm.nih.gov/books/NBK1369/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/1372711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1717157 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO"] synonym: "EBS-DM" EXACT [] synonym: "EBSDM" EXACT [] synonym: "EBS-gen sev" EXACT [] synonym: "epidermolysis bullosa herpetiformis Dowling Meara" EXACT [] synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [] synonym: "epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma" EXACT [] synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [] xref: ORDO:79396 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060736 name: epidermolysis bullosa simplex Ogna type alt_id: MIM:131950 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/11851880 "DO"] synonym: "EBS5A" EXACT [] synonym: "EBS-O" EXACT [] synonym: "EBSOG" EXACT [] synonym: "Ebs-Og" EXACT [] synonym: "Epidermolysis bullosa simplex 1" EXACT [] synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [] xref: ICD10CM:Q81.0 xref: MESH:C535962 xref: ORDO:79401 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0060737 name: junctional epidermolysis bullosa Herlitz type def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8012393 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8586427 "DO"] synonym: "epidermolysis bullosa junctionalis, Herlitz type" EXACT [] synonym: "Epidermolysis Bullosa Letali" EXACT [] synonym: "epidermolysis bullosa letalis" EXACT [] synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [] synonym: "JEB-H" EXACT [] synonym: "JEB-Herlitz type" EXACT [] synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [] synonym: "junctional epidermolysis bullosa, generalized severe" EXACT [] synonym: "junctional epidermolysis bullosa gravis of Herlitz" EXACT [] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [] synonym: "lethal junctional epidermolysis bullosa" EXACT [] xref: ICD10CM:Q81.1 xref: ORDO:79404 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060738 name: junctional epidermolysis bullosa non-Herlitz type def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/10792571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11810295 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550320 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7706760 "DO"] synonym: "epidermolysis bullosa junctionalis, Disentis type" EXACT [] synonym: "epidermolysis bullosa junctionalis, non-Herlitz type" EXACT [] synonym: "epidermolysis bullosa junctionalis, severe nonlethal" EXACT [] synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [] synonym: "JEB-nH gen" EXACT [] synonym: "JEN-nH" EXACT [] synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [] synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [] synonym: "progressive epidermolysis bullosa junctionalis" EXACT [] xref: MESH:C562639 xref: ORDO:79402 xref: ORDO:89840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060739 name: hand-foot-genital syndrome alt_id: MIM:140000 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/5450271 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9020844 "DO"] synonym: "hand-foot-uterus syndrome" EXACT [] synonym: "HFG" EXACT [] synonym: "HFGS" EXACT [] synonym: "HFG syndrome" EXACT [] synonym: "HFU" EXACT [] synonym: "HFU syndrome" EXACT [] xref: GARD:2594 xref: ICD10CM:Q51.2 xref: MESH:C535627 xref: ORDO:2438 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060740 name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency alt_id: MIM:251000 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/1975493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1977311 "DO"] synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [] synonym: "METHYLMALONIC ACIDURIA DUE TO COMPLETE METHYLMALONYL-COA MUTASE DEFICIENCY" NARROW [] synonym: "methylmalonic aciduria, mut(-) type" RELATED [] synonym: "methylmalonic aciduria, mut(0) type" RELATED [] synonym: "methylmalonic aciduria, mut type" NARROW [] synonym: "MMA due to MCM Deficiency" EXACT [] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [] xref: ICD10CM:E71.1 xref: MESH:C565390 xref: NCI:C148366 xref: ORDO:27 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060741 name: methylmalonic acidemia due to transcobalamin receptor defect def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/20524213 "DO"] synonym: "methylmalonic acidemia, TCblR type" EXACT [] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [] xref: MIM:613646 xref: NCI:C183527 xref: ORDO:280183 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060742 name: methylmalonic acidemia cblA type alt_id: MIM:251100 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/12438653 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5686220 "DO"] synonym: "CblA methylmalonic acidemia" EXACT [] synonym: "cobalamin A disease" EXACT [] synonym: "methylmalonic acidemia cb1A type" EXACT [] synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [] synonym: "methylmalonic aciduria (cobalamin deficiency) cblA type" EXACT [] synonym: "methylmalonic aciduria cb1A type" EXACT [] synonym: "methylmalonic aciduria cblA type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [] synonym: "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" EXACT [] synonym: "MMA due to MCM deficiency" EXACT [] xref: EFO:0009073 xref: MESH:C537360 xref: NCI:C142171 xref: ORDO:79310 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060743 name: methylmalonic acidemia cblB type alt_id: MIM:251110 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/12471062 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7213387 "DO"] synonym: "CblB methylmalonic acidemia" EXACT [] synonym: "Cobalamin B disease" EXACT [] synonym: "methylmalonic aciduria cb1B type" RELATED [] synonym: "methylmalonic aciduria cblB type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" EXACT [] xref: EFO:0009074 xref: MESH:C537361 xref: NCI:C142172 xref: ORDO:79311 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060744 name: Pendred syndrome alt_id: MIM:274600 def: "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)" [https://www.ncbi.nlm.nih.gov/pubmed/9398842 "DO"] synonym: "autosomal recessive sensorineural hearing impairment and goiter" EXACT [] synonym: "congenital hypothyroidism due to dyshormonogenesis, 2B" EXACT [] synonym: "deafness with goiter" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [] synonym: "Goiter-deafness syndrome" EXACT [] synonym: "PDS" EXACT [] synonym: "Pendred's syndrome" EXACT [] synonym: "SLC26A4-RELATED CONDITION" BROAD [] synonym: "SLC26A4-related disorder" BROAD [] synonym: "TDH2B" EXACT [] synonym: "thyroid dyshormonogenesis 2B" EXACT [] xref: GARD:4271 xref: ICD10CM:E07.1 xref: MESH:C536648 xref: NCI:C121745 xref: ORDO:705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13197 ! nodular goiter is_a: DOID:225 ! syndrome [Term] id: DOID:0060745 name: Doyne honeycomb retinal dystrophy alt_id: MIM:126600 def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369267 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11384588 "DO"] synonym: "DHRD" EXACT [] synonym: "Doyne honeycomb degeneration of retina" NARROW [] synonym: "Malattia Leventinese" EXACT [] synonym: "MLVT" NARROW [] synonym: "radial drusen, autosomal dominant" NARROW [] xref: GARD:1912 xref: MESH:C535602 xref: ORDO:75376 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13561 ! optic disk drusen is_a: DOID:2569 ! retinal drusen [Term] id: DOID:0060746 name: basal laminar drusen alt_id: MIM:126700 def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252232 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5448127 "DO"] synonym: "cuticular drusen" EXACT [] synonym: "drusen of Bruch membrane" EXACT [] synonym: "grouped drusen, early adult-onset" EXACT [] xref: MESH:C563034 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2569 ! retinal drusen is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060747 name: Duane-radial ray syndrome def: "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393809 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12843316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8882787 "DO"] synonym: "acro-renal-ocular syndrome" EXACT [] synonym: "acrorenocular syndrome" EXACT [] synonym: "DRRS" EXACT [] synonym: "DR syndrome" EXACT [] synonym: "Duane anomaly with radial abnormalities and deafness" EXACT [] synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [] synonym: "Okihiro syndrome" EXACT [] synonym: "SALL4-RELATED CONDITION" EXACT [] synonym: "SALL4-RELATED DISORDER" BROAD [] xref: GARD:9182 xref: MIM:607323 xref: MONDO:0011812 xref: ORDO:93293 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060748 name: familial temporal lobe epilepsy 1 alt_id: MIM:600512 alt_id: RDO:0003114 alt_id: RDO:0008760 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10851389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12205652 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15079010 "DO"] synonym: "ADLTE" EXACT [] synonym: "ADPEAF" EXACT [] synonym: "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES" EXACT [] synonym: "Autosomal Dominant Lateral Temporal Lobe Epilepsy" EXACT [] synonym: "Autosomal dominant partial epilepsy with auditory features" EXACT [] synonym: "ETL1" EXACT [] synonym: "LGI1-RELATED CONDITION" EXACT [] synonym: "partial epilepsy with auditory features" EXACT [] xref: MESH:C537297 xref: NCI:C141441 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:535 ! sleep disorder is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060749 name: familial temporal lobe epilepsy 6 alt_id: RDO:9002965 def: "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24021842 "DO"] synonym: "ETL6" EXACT [] xref: MIM:615697 xref: ORDO:163717 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060750 name: familial temporal lobe epilepsy 3 alt_id: MIM:611630 alt_id: RDO:0009548 alt_id: RDO:0015117 def: "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17377072 "DO"] synonym: "EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE" EXACT [] synonym: "ETL3" EXACT [] synonym: "FMTLE" EXACT [] synonym: "MDR1 POLYMORPHISM" RELATED [] xref: MESH:C566903 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy is_a: DOID:9004798 ! Drug Resistant Epilepsy [Term] id: DOID:0060751 name: familial temporal lobe epilepsy 7 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26046367 "DO"] synonym: "ETL7" EXACT [] synonym: "RELN-RELATED CONDITION" BROAD [] xref: MIM:616436 xref: ORDO:101046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060752 name: familial temporal lobe epilepsy 5 alt_id: RDO:9000289 def: "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922598 "DO"] synonym: "CPA6-RELATED CONDITION" BROAD [] synonym: "ETL5" EXACT [] xref: MIM:614417 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060753 name: familial temporal lobe epilepsy 4 alt_id: MIM:611631 alt_id: RDO:0015116 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17460155 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18332351 "DO"] synonym: "Epilepsy, Occipitotemporal Lobe, And Migraine With Aura" EXACT [] synonym: "EPOLM" EXACT [] synonym: "ETL4" EXACT [] xref: MESH:C566902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060754 name: familial temporal lobe epilepsy 8 alt_id: RDO:9001450 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25691535 "DO"] synonym: "ETL8" EXACT [] xref: MIM:616461 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060755 name: familial temporal lobe epilepsy 2 alt_id: RDO:0009163 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12011300 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15342703 "DO"] synonym: "ETL2" EXACT [] synonym: "FTLE" EXACT [] xref: MIM:608096 xref: ORDO:98819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060756 name: sclerosteosis 1 def: "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179006 "DO"] synonym: "SOST1" EXACT [] synonym: "SOST-RELATED CONDITION" BROAD [] xref: ICD10CM:M85.2 xref: MIM:269500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060251 ! sclerosteosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060757 name: sclerosteosis 2 def: "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21471202 "DO"] synonym: "SOST2" EXACT [] xref: MIM:614305 xref: ORDO:3152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060251 ! sclerosteosis [Term] id: DOID:0060758 name: immunodeficiency with hyper-IgM type 2 def: "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11007475 "DO"] synonym: "activation-induced cytidine deaminase deficiency" EXACT [] synonym: "AID deficiency" EXACT [] synonym: "HIGM2" EXACT [] synonym: "HIGM2 syndrome" EXACT [] synonym: "hyper IgM immunodeficiency syndrome type 2" EXACT [] synonym: "hyper IgM syndrome 2" EXACT [] synonym: "hyper-IgM syndrome type 2" EXACT [] xref: GARD:10578 xref: MIM:605258 xref: MONDO:0011528 xref: NCI:C129074 xref: ORDO:101089 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060759 name: immunodeficiency with hyper IgM type 5 def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12958596 "DO"] synonym: "HIGM5" EXACT [] synonym: "HIGM5 syndrome" EXACT [] synonym: "hyper IgM immunodeficiency syndrome type 5" EXACT [] synonym: "hyper-IgM syndrome 5" EXACT [] synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [] synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [] xref: GARD:10581 xref: MIM:608106 xref: ORDO:101092 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060760 name: immunodeficiency with hyper-IgM type 4 alt_id: MIM:608184 def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12840068 "DO"] synonym: "HIGM4" EXACT [] synonym: "Hyper-Igm Syndrome 4" EXACT [] synonym: "hyper-IgM syndrome type 4" EXACT [] xref: GARD:10580 xref: MESH:C564277 xref: NCI:C564277 xref: ORDO:101091 is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia [Term] id: DOID:0060761 name: familial chronic myelocytic leukemia-like syndrome alt_id: MIM:600080 def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8086739 "DO"] synonym: "Cml-Like Syndrome, Familial" EXACT [] xref: MESH:C536093 is_a: DOID:8552 ! chronic myeloid leukemia is_a: DOID:8692 ! myeloid leukemia is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0060762 name: restrictive dermopathy def: "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101687 "DO"] synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [] synonym: "hyperkeratosis-contracture syndrome" EXACT [] synonym: "infantile restrictive dermopathy" EXACT [] synonym: "lethal restrictive dermopathy" EXACT [] synonym: "lethal tight skin contracture syndrome" EXACT [] synonym: "tight skin contracture syndrome" EXACT [] xref: GARD:1516 xref: MESH:C536920 xref: MIM:PS275210 xref: ORDO:1662 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006138 ! Laminopathies is_a: DOID:9006836 ! Contracture [Term] id: DOID:0060763 name: X-linked juvenile retinoschisis 1 alt_id: RDO:9003957 def: "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17172462 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9326935 "DO"] synonym: "congenital X-linked retinoschisis" EXACT [] synonym: "juvenile retinoschisis, X chromosome-linked" EXACT [] synonym: "RS1" EXACT [] synonym: "X-linked juvenile retinoschisis" EXACT [] synonym: "X-linked retinoschisis" EXACT [] synonym: "XLRS" EXACT [] synonym: "XLRS1" EXACT [] xref: ICD10CM:Q14.1 xref: MIM:312700 xref: NCI:C75483 xref: ORDO:792 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8465 ! retinoschisis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060764 name: autosomal recessive Robinow syndrome alt_id: MIM:268310 def: "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10932186 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10932187 "DO"] synonym: "autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" NARROW [] synonym: "autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1" NARROW [] synonym: "autosomal recessive Robinow syndrome, with brachy-syn-polydactyly" NARROW [] synonym: "BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE" NARROW [] synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [] synonym: "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA" EXACT [] synonym: "Covesdem Syndrome" NARROW [] synonym: "ROR2-RELATED CONDITION" BROAD [] synonym: "ROR2-related disorder" BROAD [] synonym: "RRS" EXACT [] xref: MESH:C535863 xref: ORDO:1507 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060254 ! Robinow syndrome is_a: DOID:9004563 ! Maxillofacial Abnormalities [Term] id: DOID:0060765 name: autosomal dominant Robinow syndrome 2 def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25817014 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26924530 "DO"] synonym: "DRS2" EXACT [] xref: MIM:616331 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome created_by: rgd creation_date: 2017-04-03T00:00:00Z [Term] id: DOID:0060766 name: autosomal dominant Robinow syndrome 1 def: "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19918918 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24716670 "DO"] synonym: "DRS1" EXACT [] xref: MIM:180700 xref: ORDO:3107 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060767 name: autosomal dominant Robinow syndrome 3 def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26924530 "DO"] synonym: "DRS3" EXACT [] synonym: "DVL3-RELATED CONDITION" EXACT [] xref: MIM:616894 xref: ORDO:97360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome created_by: rgd creation_date: 2016-04-19T00:00:00Z [Term] id: DOID:0060768 name: Smith-Magenis syndrome alt_id: MIM:182290 def: "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1310/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16845274 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21844811 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6745947 "DO"] synonym: "17p11.2 microdeletion syndrome" EXACT [] synonym: "17p11.2 Monosomy" EXACT [] synonym: "Chromosome 17p11.2 Deletion Syndrome" EXACT [] synonym: "RAI1-RELATED CONDITION" EXACT [] synonym: "SMCR" EXACT [] synonym: "Smith-Magenis syndrome chromosome region" EXACT [] synonym: "SMITH-MAGENIS SYNDROME-LIKE" RELATED [] synonym: "SMS" EXACT [] xref: GARD:8197 xref: MESH:D058496 xref: NCI:C75469 xref: ORDO:819 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9004980 ! Chronobiology Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060769 name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy alt_id: MIM:601705 def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)" [https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/10206641 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8911612 "DO"] synonym: "alymphoid cystic thymic dysgenesis" EXACT [] synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" EXACT [] synonym: "Pignata Guarino syndrome" EXACT [] synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [] synonym: "winged helix deficiency" EXACT [] xref: ICD10CM:D82.8 xref: MESH:C536781 xref: ORDO:169095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:4123 ! nail disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:987 ! alopecia [Term] id: DOID:0060770 name: dextro-looped transposition of the great arteries alt_id: DOID:0060771 alt_id: MESH:C563853 alt_id: MIM:608808 def: "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11799476 "DO"] synonym: "congenitally uncorrected transposition of the great arteries" EXACT [] synonym: "congenitally uncorrected transposition of the great vessels" EXACT [] synonym: "dextro-looped transposition of the great arteries 1" EXACT [] synonym: "D-TGA" EXACT [] synonym: "DTGA1" EXACT [] synonym: "great arteries transposition" EXACT [] synonym: "great arteries transpositions" EXACT [] synonym: "great vessels transposition" EXACT [] synonym: "great vessels transpositions" EXACT [] synonym: "isolated ventriculoarterial discordance" EXACT [] synonym: "MED13L-RELATED CONDITION" BROAD [] synonym: "MED13L-related disorder" BROAD [] synonym: "transposition of great arteries" EXACT [] synonym: "transposition of great vessels" EXACT [] synonym: "TRANSPOSITION OF THE GREAT ARTERIES" EXACT [] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [] xref: ICD10CM:Q20.3 xref: MESH:D014188 xref: MONDO:0000153 xref: NCI:C84742 xref: ORDO:860 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0060772 name: multiple types of congenital heart defects 6 def: "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17924340 "DO"] synonym: "CHTD6" EXACT [] synonym: "congenital heart defects, multiple types, 6" EXACT [] synonym: "dextro-looped transposition of the great arteries 3" EXACT [] synonym: "DTGA3" EXACT [] synonym: "GDF1-RELATED CONDITION" BROAD [] synonym: "GDF1-RELATED DISORDERS" BROAD [] xref: MIM:613854 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060770 ! dextro-looped transposition of the great arteries is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types [Term] id: DOID:0060773 name: cleft lip-palate-ectodermal dysplasia syndrome alt_id: MIM:225060 def: "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3035184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9758630 "DO"] synonym: "autosomal recessive ectodermal dysplasia" EXACT [] synonym: "Bustos Simosa Pinto Cisternas syndrome" EXACT [] synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [] synonym: "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7" NARROW [] synonym: "CLPED1" EXACT [] synonym: "Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" EXACT [] synonym: "ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7" NARROW [] synonym: "Ectodermal dysplasia Margarita island type" EXACT [] synonym: "ectodermal dysplasia type 4" EXACT [] synonym: "ED4" EXACT [] synonym: "Margarita type of ectodermal dysplasia" EXACT [] synonym: "OFC7" NARROW [] synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [] synonym: "Zlotogora-Ogur syndrome" EXACT [] synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [] xref: GARD:375 xref: MESH:C536726 xref: NCI:C122656 xref: ORDO:3253 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080400 ! orofacial cleft 7 is_a: DOID:1059 ! intellectual disability is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:0060774 name: congenital diarrhea def: "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22605972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30894704 "DO"] xref: MIM:PS214700 is_a: DOID:0080015 ! physical disorder is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0060775 name: microvillus inclusion disease alt_id: MIM:251850 def: "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18724368 "DO"] synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [] synonym: "congenital microvillous atrophy" EXACT [] synonym: "congenital microvillus atrophy" EXACT [] synonym: "Davidson disease" EXACT [] synonym: "DIAR2" EXACT [] synonym: "diarrhea 2 with microvillus atrophy" EXACT [] synonym: "diarrhea with microvillus atrophy" EXACT [] synonym: "intractable diarrhea of infancy" EXACT [] synonym: "microvillus inclusion disease 1" EXACT [] synonym: "MVD" EXACT [] synonym: "MVID" EXACT [] synonym: "MVID1" EXACT [] synonym: "MYO5B-RELATED CONDITION" BROAD [] xref: GARD:7039 xref: MESH:C537470 xref: ORDO:2290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:3343 ! glycoproteinosis is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0060776 name: congenital diarrhea 5 with tufting enteropathy alt_id: MIM:613217 def: "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18572020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23462293 "DO"] synonym: "congenital diarrhoea 5 with tufting enteropathy" EXACT [] synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [] synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT [] synonym: "congenital tufting enteropathy" EXACT [] synonym: "CTE" EXACT [] synonym: "DIAR5" EXACT [] synonym: "intestinal epithelial cell dysplasia" EXACT [] synonym: "tufting enteropathy" EXACT [] xref: MESH:C567703 xref: NCI:C183530 xref: ORDO:92050 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9002984 ! Malabsorption Syndromes is_a: DOID:9007847 ! Infantile Diarrhea [Term] id: DOID:0060777 name: congenital secretory sodium diarrhea 8 def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26358773 "DO"] synonym: "congenital sodium diarrhea" EXACT [] synonym: "CSD" EXACT [] synonym: "DIAR8" EXACT [] xref: MIM:616868 xref: ORDO:103908 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060778 name: congenital diarrhea 7 with exudative enteropathy alt_id: DOID:9009029 def: "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23114594 "DO"] synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [] synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT [] synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT [] synonym: "congenital diarrhoea 7 with exudative enteropathy" EXACT [] synonym: "DIAR7" EXACT [] synonym: "diarrhea 7" EXACT [] xref: ICD10CM:P78.3 xref: MIM:615863 xref: ORDO:329242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9007847 ! Infantile Diarrhea created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060779 name: congenital malabsorptive diarrhea 4 alt_id: MIM:610370 def: "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16855267 "DO"] synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [] synonym: "congenital malabsorptive diarrhoea 4" EXACT [] synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT [] synonym: "DIAR4" EXACT [] synonym: "enteric anendocrinosis" EXACT [] xref: MESH:C563673 xref: ORDO:83620 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0060780 name: congenital diarrhea 6 alt_id: DOID:9004022 def: "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22436048 "DO"] synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [] synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT [] synonym: "congenital diarrhoea 6" EXACT [] synonym: "DIAR6" EXACT [] synonym: "Diarrhea 6" EXACT [] xref: MIM:614616 xref: ORDO:314373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060774 ! congenital diarrhea created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060781 name: congenital secretory sodium diarrhea 3 alt_id: MIM:270420 def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19185281 "DO"] synonym: "congenital secretory sodium diarrhea 3, syndromic" EXACT [] synonym: "congenital secretory sodium diarrhea 3, with or without other congenital anomalies" EXACT [] synonym: "congenital secretory sodium diarrhoea 3" EXACT [] synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT [] synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT [] synonym: "congenital sodium diarrhea" EXACT [] synonym: "CSD" EXACT [] synonym: "DIAR3" EXACT [] xref: MESH:C562576 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060782 name: EEC syndrome def: "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO)" [https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome "DO"] synonym: "cleft lip-cleft palate-lobster claw deformity syndrome" EXACT [] synonym: "ectrodactyly-cleft lip/palate syndrome" EXACT [] synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [] synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" EXACT [] synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [] synonym: "Rudiger syndrome 1" EXACT [] synonym: "Walker-Clodius syndrome" EXACT [] xref: MESH:C536189 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060783 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 alt_id: MIM:604292 def: "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10535733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8737655 "DO"] synonym: "EEC3" EXACT [] synonym: "EEC Syndrome 3" EXACT [] xref: MESH:C565799 xref: NCI:C148261 is_a: DOID:0060782 ! EEC syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0060784 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 alt_id: MIM:129900 def: "An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1424230 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5454938 "DO"] synonym: "EEC" EXACT [] synonym: "EEC1" EXACT [] synonym: "EEC Syndrome 1" EXACT [] xref: MESH:C565062 xref: ORDO:1896 is_a: DOID:0060782 ! EEC syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0060785 name: adult-onset autosomal dominant demyelinating leukodystrophy alt_id: MIM:169500 def: "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16951681 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19151023 "DO"] synonym: "ADLD" EXACT [] synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [] synonym: "adult-onset leukodystrophy" EXACT [] synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [] synonym: "LMNB1-RELATED CONDITION" BROAD [] synonym: "multiple sclerosis-like disorder" EXACT [] synonym: "SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE" NARROW [] xref: GARD:10587 xref: MESH:C566813 xref: ORDO:99027 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0060786 name: hypomyelinating leukodystrophy def: "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24916848/ "DO", https://pubmed.ncbi.nlm.nih.gov/25649058/ "DO", https://pubmed.ncbi.nlm.nih.gov/27234264/ "DO"] synonym: "HLD" EXACT [] xref: MIM:PS312080 is_a: DOID:10579 ! leukodystrophy is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060787 name: hypomyelinating leukodystrophy 2 alt_id: MIM:608804 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15192806 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18094336 "DO"] synonym: "HLD2" EXACT [] synonym: "Pelizaeus-Merzbacher-Like disease, 1" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [] synonym: "PMLD1" EXACT [] xref: MESH:C563855 xref: ORDO:280282 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060788 name: hypomyelinating leukodystrophy 10 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25865492 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27130255 "DO"] synonym: "HLD10" EXACT [] xref: MIM:616420 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060789 name: hypomyelinating leukodystrophy 4 alt_id: MIM:612233 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18571143 "DO"] synonym: "HLD4" EXACT [] synonym: "MITCHAP60 disease" EXACT [] synonym: "mitochondrial HSP60 chaperonopathy" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [] xref: MESH:C567390 xref: ORDO:280288 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060790 name: hypomyelinating leukodystrophy 3 alt_id: MIM:260600 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21092922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24958424 "DO"] synonym: "HLD3" EXACT [] synonym: "Leukodystrophy, hypomyelinating, 3" EXACT [] synonym: "Pelizaeus-Merzbacher-like Disease, Autosomal Recessive, 2" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [] synonym: "Perinatal Sudanophilic leukodystrophy" EXACT [] xref: MESH:C536319 xref: ORDO:280293 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060791 name: hypomyelinating leukodystrophy 9 def: "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24777941 "DO"] synonym: "HLD9" EXACT [] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [] xref: MIM:616140 xref: ORDO:438114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060792 name: hypomyelinating leukodystrophy 11 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26151409 "DO"] synonym: "4H leukodystrophy 3" EXACT [] synonym: "HLD11" EXACT [] synonym: "POLR1C-related disorder" BROAD [] synonym: "POLR1C-related disorders" BROAD [] xref: MIM:616494 xref: MONDO:0014666 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060793 name: hypomyelinating leukodystrophy 5 alt_id: MIM:610532 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16951682 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17683097 "DO"] synonym: "HLD5" EXACT [] synonym: "hypomyelination and congenital cataract" EXACT [] synonym: "hypomyelination and congenital cataract: HCC" EXACT [] synonym: "hypomyelination-congenital cataract syndrome" EXACT [] xref: ICD10CM:G37.8 xref: MESH:C567166 xref: ORDO:85163 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:83 ! cataract [Term] id: DOID:0060794 name: hypomyelinating leukodystrophy 7 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12605447 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21855841 "DO"] synonym: "4H leukodystrophy 1" EXACT [] synonym: "4H syndrome" EXACT [] synonym: "ADDH" EXACT [] synonym: "ataxia, delayed dentition, and hypomyelination" EXACT [] synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [] synonym: "dentoleukoencephalopathy" EXACT [] synonym: "HLD7" EXACT [] synonym: "hypomyelinating leukodystrophy 7, with hypodontia and hypogonadotropic hypogonadism" EXACT [] synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" EXACT [] synonym: "hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism" EXACT [] synonym: "hypomyelinating leukoencephalopathy with ataxia and delayed dentition" EXACT [] synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" EXACT [] synonym: "HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME" EXACT [] synonym: "leukodystrophy with oligodontia" EXACT [] synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [] synonym: "POL III-related leukodystrophy" EXACT [] synonym: "POLR3A-RELATED DISORDERS" BROAD [] synonym: "POLR3A-RELATED NEUROLOGICAL DISORDER" BROAD [] synonym: "POLR3-RELATED LEUKODYSTROPHY" EXACT [] synonym: "TACH syndrome" EXACT [] synonym: "tremor-ataxia-central hypomyelination syndrome" EXACT [] xref: ICD10CM:G11.1 xref: MESH:C567313 xref: MIM:607694 xref: MONDO:0019505 xref: ORDO:137639 xref: ORDO:447893 xref: ORDO:447896 xref: ORDO:77295 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:13714 ! anodontia is_a: DOID:1924 ! hypogonadism is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0060795 name: hypomyelinating leukodystrophy 13 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26545878 "DO"] synonym: "HIKESHI-RELATED CONDITION" EXACT [] synonym: "HLD13" EXACT [] xref: MIM:616881 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060796 name: hypomyelinating leukodystrophy 12 alt_id: OMIA:002152 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26307567 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27120463 "DO"] synonym: "HLD12" EXACT [] synonym: "neuroaxonal dystrophy, VPS11-related" EXACT [] xref: MIM:616683 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060797 name: hypomyelinating leukodystrophy 8 alt_id: DOID:9003813 alt_id: MIM:614381 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22036171 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22036172 "DO"] synonym: "4H leukodystrophy 2" EXACT [] synonym: "cerebellar hypoplasia with endosteal sclerosis" EXACT [] synonym: "ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME" EXACT [] synonym: "HLD8" EXACT [] synonym: "hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism" NARROW [] synonym: "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" EXACT [] xref: MESH:C535353 xref: NCI:C180850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:4254 ! osteosclerosis is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:0060798 name: hypomyelinating leukodystrophy 6 alt_id: MIM:612438 def: "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23582646 "DO"] synonym: "H-ABC" EXACT [] synonym: "HABC" EXACT [] synonym: "HLD6" EXACT [] synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [] synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [] xref: MESH:C567314 xref: NCI:C183310 xref: ORDO:139441 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060799 name: syndromic X-linked intellectual disability Lubs type alt_id: DOID:0080713 alt_id: MIM:300260 def: "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15689435 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425814 "DO"] synonym: "Lubs X-linked mental retardation syndrome" EXACT [] synonym: "MECP2 duplication syndrome" EXACT [] synonym: "MRXSL" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Lubs type" EXACT [] synonym: "syndromic X-linked mental retardation, Lubs type" EXACT [] synonym: "trisomy Xq28" EXACT [] synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT [] synonym: "X-linked mental retardation, Lubs type" EXACT [] synonym: "X-linked mental retardation with recurrent respiratory infections" EXACT [] synonym: "XLMR syndrome, Lubs type" EXACT [] xref: GARD:9781 xref: MESH:C537723 xref: NCI:C126747 xref: ORDO:85281 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0080712 ! gene duplication disease [Term] id: DOID:0060800 name: syndromic X-linked intellectual disability 5 alt_id: MIM:304340 alt_id: RDO:0001074 alt_id: RDO:0013418 def: "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19377476 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23756445 "DO"] synonym: "Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures" EXACT [] synonym: "Fried syndrome" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED 59" EXACT [] synonym: "mental retardation, X-linked syndromic 21" EXACT [] synonym: "mental retardation, X-linked syndromic 5" EXACT [] synonym: "mental retardation, X-linked syndromic, Fried type" EXACT [] synonym: "MRX59" EXACT [] synonym: "MRXS21" EXACT [] synonym: "MRXS5" EXACT [] synonym: "MRXSF" EXACT [] synonym: "Pettigrew syndrome" EXACT [] synonym: "PGS" EXACT [] synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [] synonym: "X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [] xref: MESH:C535773 xref: MESH:C564470 xref: NCI:C124839 xref: ORDO:1568 xref: ORDO:85335 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0060801 name: MEHMO syndrome def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032729 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9781023 "DO"] synonym: "Borck type of X-linked syndromic mental retardation" EXACT [] synonym: "MEHMO" EXACT [] synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [] synonym: "MRXS20" EXACT [] synonym: "MRXS25" EXACT [] synonym: "MRXSBRK" EXACT [] synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [] synonym: "X-linked MEHMO syndrome" EXACT [] synonym: "X-linked mental retardation, syndromic, Borck type" EXACT [] synonym: "X-linked syndromic mental retardation 20" EXACT [] synonym: "X-linked syndromic mental retardation 25" EXACT [] xref: MESH:C537451 xref: MIM:300148 xref: MONDO:0010258 xref: ORDO:85282 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:0060802 name: syndromic X-linked intellectual disability Snyder type alt_id: MIM:309583 def: "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23696453 "DO"] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE" EXACT [] synonym: "MRXSSR" EXACT [] synonym: "SMS-RELATED DISORDER" EXACT [] synonym: "Snyder-Robinson mental retardation syndrome" EXACT [] synonym: "Snyder-Robinson syndrome" EXACT [] synonym: "spermine synthase deficiency" EXACT [] synonym: "SRS" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Snyder-Robinson type" EXACT [] synonym: "X-linked mental retardation, Snyder-Robinson type" EXACT [] xref: GARD:5615 xref: MESH:C536678 xref: ORDO:3063 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060803 name: syndromic X-linked intellectual disability 17 def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21744492 "DO"] synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [] synonym: "MRXS17" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 17" EXACT [] synonym: "syndromic X-linked mental retardation 17" EXACT [] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT [] xref: MIM:300858 xref: ORDO:289483 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060804 name: syndromic X-linked intellectual disability 12 alt_id: MIM:309545 def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1357179 "DO"] synonym: "MRXS12" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 12" EXACT [] synonym: "syndromic X-linked mental retardation 12" EXACT [] synonym: "X-linked intellectual disability, Wilson type" EXACT [] xref: MESH:C564106 xref: ORDO:85290 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060805 name: Prieto syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1673297 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3121220 "DO"] synonym: "MRXS2" EXACT [] synonym: "Prieto-Badia-Mulas syndrome" EXACT [] synonym: "Prieto X-linked mental retardation syndrome" EXACT [] synonym: "PRS" EXACT [] synonym: "X-linked dysmorphic syndrome with mental retardation" EXACT [] synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [] synonym: "X-linked mental retardation, syndromic 2" EXACT [] synonym: "X-linked mental retardation, with dysmorphism and cerebral atrophy" EXACT [] xref: MESH:C535274 xref: MIM:309610 xref: MONDO:0010667 xref: ORDO:2958 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060806 name: syndromic X-linked intellectual disability Hedera type alt_id: MIM:300423 def: "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11782983 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15746149 "DO"] synonym: "MRXE" EXACT [] synonym: "MRXSH" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Hedera type" EXACT [] synonym: "syndromic X-linked mental retardation, Hedera type" EXACT [] synonym: "X-linked mental retardation with epilepsy" EXACT [] xref: MESH:C564516 xref: ORDO:93952 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:0060807 name: syndromic X-linked intellectual disability Najm type def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19165920 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21954287 "DO"] synonym: "CASK-RELATED DISORDER" BROAD [] synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia" EXACT [] synonym: "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED" BROAD [] synonym: "Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia" EXACT [] synonym: "MICPCH" EXACT [] synonym: "MICPCH syndrome" EXACT [] synonym: "MRXSNA" EXACT [] synonym: "syndromic X-linked mental retardation, Najm type" EXACT [] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [] xref: EFO:0010954 xref: GARD:12669 xref: MESH:C567466 xref: MIM:300749 xref: MONDO:0010417 xref: ORDO:163937 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:0060808 name: syndromic X-linked intellectual disability 7 alt_id: MIM:300218 def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10573017 "DO"] synonym: "Ahmad X-linked mental retardation syndrome" EXACT [] synonym: "MRXS7" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 7" EXACT [] synonym: "syndromic X-linked mental retardation 7" EXACT [] synonym: "X-linked intellectual disability, Ahmad type" EXACT [] xref: GARD:9156 xref: MESH:C537449 xref: ORDO:85274 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060809 name: syndromic X-linked intellectual disability Claes-Jensen type def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10982473 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15586325 "DO"] synonym: "KDM5C-RELATED CONDITION" EXACT [] synonym: "MRXSCJ" EXACT [] synonym: "MRXSJ" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Claes-Jensen type" EXACT [] synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [] synonym: "syndromic X-linked mental retardation, Claes-Jensen type" EXACT [] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT [] xref: MESH:C564494 xref: MIM:300534 xref: MONDO:0010355 xref: ORDO:85279 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060810 name: syndromic X-linked intellectual disability type 10 alt_id: MIM:300438 def: "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10521307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236142 "DO"] synonym: "17beta-hydroxysteroid dehydrogenase type 10 deficiency" EXACT [] synonym: "17-Beta-Hydroxysteroid Dehydrogenase X Deficiency" EXACT [] synonym: "2-Methyl-3-Hydroxybutyric Aciduria" EXACT [] synonym: "2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency" EXACT [] synonym: "3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency" EXACT [] synonym: "3-Hydroxyacyl-CoA Dehydrogenase II Deficiency" EXACT [] synonym: "3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency" EXACT [] synonym: "CAMR" EXACT [] synonym: "Chorioathetosis With Mental Retardation And Abnormal Behavior" EXACT [] synonym: "HSD10 deficiency, atypical type" EXACT [] synonym: "HSD10 disease, atypical type" EXACT [] synonym: "HSD10MD" EXACT [] synonym: "HSD10 MITOCHONDRIAL DISEASE" EXACT [] synonym: "HSD17B10 Deficiency" EXACT [] synonym: "HSD17B10-RELATED DISORDER" EXACT [] synonym: "Hydroxyacyl-CoA Dehydrogenase II Deficiency" EXACT [] synonym: "hydroxyacyl-CoA dehydrogenase type 2 deficiency" EXACT [] synonym: "MHBD deficiency" EXACT [] synonym: "MRXS10" EXACT [] synonym: "syndromic X-linked mental retardation 10" EXACT [] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" EXACT [] xref: ICD10CM:G25.5 xref: MESH:C564560 xref: ORDO:85295 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:0060811 name: syndromic X-linked intellectual disability Turner type alt_id: DOID:0060829 alt_id: MIM:300612 alt_id: MIM:309590 def: "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7943042 "DO"] synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [] synonym: "HUWE1-RELATED CONDITION" EXACT [] synonym: "HUWE1-related disorder" BROAD [] synonym: "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "JMS" EXACT [] synonym: "Juberg-Marsidi mental retardation syndrome" EXACT [] synonym: "Juberg-Marsidi syndrome" EXACT [] synonym: "mental retardation and macrocephaly syndrome" EXACT [] synonym: "MRXSBWB" EXACT [] synonym: "MRXST" EXACT [] synonym: "MRXS-Turner" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Turner type" EXACT [] synonym: "syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type" EXACT [] synonym: "syndromic X-linked mental retardation, Turner type" EXACT [] synonym: "X-linked intellectual developmental disorder, Turner type" EXACT [] synonym: "X-linked intellectual disability, Brooks type" EXACT [] synonym: "X-linked mental retardation with growth delay, deafness, microgenitalism" EXACT [] synonym: "X-linked mental retardation with growth retardation, deafness, and microgenitalism" EXACT [] xref: MESH:C563154 xref: MESH:C567476 xref: ORDO:3056 xref: ORDO:85328 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0060812 name: syndromic X-linked intellectual disability Siderius type alt_id: MIM:300263 def: "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16199551 "DO"] synonym: "MRXSSD" EXACT [] synonym: "Siderius Hamel syndrome" EXACT [] synonym: "Siderius X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Siderius type" EXACT [] synonym: "syndromic X-linked mental retardation, Siderius type" EXACT [] synonym: "X-linked mental retardation syndrome, Siderius type" EXACT [] xref: MESH:C537333 xref: ORDO:85287 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060813 name: syndromic X-linked intellectual disability Shrimpton type alt_id: MIM:300709 def: "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10331611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10797443 "DO"] synonym: "MRXS9" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 9" EXACT [] synonym: "syndromic X-linked mental retardation 9" EXACT [] xref: MESH:C567474 xref: ORDO:85324 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:0060814 name: Wilson-Turner syndrome alt_id: MIM:309585 def: "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1746601 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25644381 "DO"] synonym: "MRXS6" EXACT [] synonym: "MRXSWT" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Wilson-Turner type" EXACT [] synonym: "syndromic X-linked mental retardation 6" EXACT [] synonym: "Wilson Turner mental retardation syndrome" EXACT [] synonym: "Wilson-Turner X-linked mental retardation syndrome" EXACT [] synonym: "WTS" EXACT [] synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [] synonym: "X-linked mental retardation, with gynecomastia and obesity" EXACT [] xref: GARD:5579 xref: MESH:C536708 xref: ORDO:3459 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12698 ! gynecomastia is_a: DOID:225 ! syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:0060815 name: Miles-Carpenter syndrome alt_id: MIM:314580 def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2018061 "DO"] synonym: "Contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [] synonym: "MCS" EXACT [] synonym: "Miles-Carpenter X-linked mental retardation syndrome" EXACT [] synonym: "MRXS4" EXACT [] synonym: "oculomotor apraxia, with congenital contractures and muscle atrophy" EXACT [] synonym: "syndromic X-linked mental retardation 4" EXACT [] synonym: "Wieacker-Wolff syndrome" EXACT [] synonym: "Wieacker-Wolff syndrome (spectrum)" EXACT [] synonym: "WRWF" EXACT [] synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [] synonym: "X-linked mental retardation with congenital contractures and low fingertip arches" EXACT [] synonym: "ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY" EXACT [] xref: MESH:C536703 xref: MIM:PS314580 xref: MONDO:0025445 xref: ORDO:85283 is_a: DOID:0060135 ! apraxia is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:767 ! muscular atrophy is_a: DOID:9006836 ! Contracture [Term] id: DOID:0060816 name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome alt_id: MIM:300472 def: "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14556245 "DO"] synonym: "agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia" EXACT [] synonym: "agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia" EXACT [] synonym: "Graham-Cox syndrome" EXACT [] synonym: "IGBP1-RELATED CONDITION" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC 28" EXACT [] synonym: "MRXS28" EXACT [] xref: MESH:C564509 xref: ORDO:52055 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0060817 name: syndromic X-linked intellectual disability 34 def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26571461 "DO"] synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE" EXACT [] synonym: "MRXS34" EXACT [] synonym: "MRXSML" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 34" EXACT [] synonym: "syndromic X-linked mental retardation 34" EXACT [] xref: MIM:300967 xref: ORDO:466791 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060818 name: syndromic X-linked intellectual disability Abidi type alt_id: MIM:300262 def: "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398233 "DO"] synonym: "MRXSAB" EXACT [] synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Abidi type" EXACT [] synonym: "syndromic X-linked mental retardation Abidi type" EXACT [] synonym: "X-linked mental retardation, Abidi type" EXACT [] xref: MESH:C535556 xref: ORDO:85273 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060819 name: syndromic X-linked intellectual disability Chudley-Schwartz type def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398239 "DO"] synonym: "MRXSCS" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Chudley-Schwartz type" EXACT [] synonym: "syndromic X-linked mental retardation, Chudley-Schwartz type" EXACT [] synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT [] xref: MIM:300861 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060820 name: syndromic X-linked intellectual disability Nascimento type def: "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909393 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20412111 "DO"] synonym: "MRXS30" EXACT [] synonym: "MRXSN" EXACT [] synonym: "Nascimento form of syndromic X-linked intellectual developmental disorder" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Nascimento type" EXACT [] synonym: "syndromic X-linked mental retardation 30" EXACT [] synonym: "syndromic X-linked mental retardation, Nascimento type" EXACT [] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [] xref: MIM:300860 xref: NCI:C202069 xref: ORDO:163956 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060821 name: syndromic X-linked intellectual disability 14 alt_id: MIM:300676 def: "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17704778 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22957832 "DO"] synonym: "MRXS14" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 14" EXACT [] synonym: "syndromic X-linked mental retardation 14" EXACT [] xref: MESH:C567063 xref: ORDO:323 xref: ORDO:776 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060822 name: syndromic X-linked intellectual disability Cabezas type alt_id: MESH:C564527 alt_id: MIM:300354 def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10978355 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236139 "DO"] synonym: "Cabezas syndrome" EXACT [] synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT [] synonym: "Cabezas X-Linked Mental Retardation Syndrome" EXACT [] synonym: "CUL4B-RELATED DISORDER" EXACT [] synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT [] synonym: "MRSS" EXACT [] synonym: "MRXS15" EXACT [] synonym: "MRXSC" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Cabezas type" EXACT [] synonym: "syndromic X-linked mental retardation 15" EXACT [] synonym: "SYNDROMIC X-LINKED MENTAL RETARDATION, CABEZAS TYPE" EXACT [] synonym: "X-linked mental retardation with brachydactyly and macroglossia" EXACT [] synonym: "X-linked mental retardation with short stature" EXACT [] synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT [] synonym: "X-linked mental retardation with short stature, small testes, muscle wasting, and tremor" EXACT [] xref: GARD:13244 xref: MESH:C567069 xref: NCI:C167216 xref: ORDO:85293 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0060823 name: syndromic X-linked intellectual disability 94 alt_id: MIM:300699 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17989220 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19449417 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24721225 "DO"] synonym: "DISRUPTED SLEEP-WAKE CYCLE WITH DEVELOPMENTAL DELAY AND LEARNING DIFFICULTY" EXACT [] synonym: "GRIA3-RELATED CONDITION" EXACT [] synonym: "GRIA3-related disorder" BROAD [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC 29" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE" EXACT [] synonym: "MRX94" EXACT [] synonym: "MRXS29" EXACT [] synonym: "MRXSW" EXACT [] synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT [] synonym: "Wu-type X-linked syndromic intellectual developmental disorder" EXACT [] synonym: "X-linked mental retardation 94" EXACT [] xref: ICD10CM:F72 xref: MESH:C567479 xref: ORDO:364028 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060824 name: syndromic X-linked intellectual disability Raymond type alt_id: DOID:9007880 alt_id: MESH:C567586 def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17436253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19377476 "DO"] synonym: "MRXSR" EXACT [] synonym: "syndromic X-linked mental retardation, Raymond type" EXACT [] synonym: "syndromic X-linked mental retardation, Zdhhc9-related" EXACT [] synonym: "X-linked syndromic intellectual developmental disorder Raymond type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300799 xref: ORDO:163953 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060825 name: Christianson syndrome alt_id: MESH:C537450 alt_id: MIM:300243 def: "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18342287 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20949524 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25044251 "DO"] synonym: "Angelman-Like Syndrome, X-Linked" EXACT [] synonym: "ANGELMAN SYNDROME-LIKE" EXACT [] synonym: "Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome" EXACT [] synonym: "MRXSCH" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Christianson type" EXACT [] synonym: "syndromic X-linked mental retardation, Christianson type" EXACT [] synonym: "X-linked intellectual deficit, South African type" EXACT [] synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [] synonym: "X-linked intellectual disability, South African type" EXACT [] xref: GARD:10572 xref: MESH:C567484 xref: NCI:C181001 xref: ORDO:85278 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:10907 ! microcephaly is_a: DOID:1279 ! ocular motility disease is_a: DOID:1826 ! epilepsy is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0060826 name: syndromic X-linked intellectual disability Shashi type alt_id: MIM:300238 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10677307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25256757 "DO"] synonym: "MRXS11" EXACT [] synonym: "MRXSSH" EXACT [] synonym: "orofaciodigital syndrome, Shashi type" EXACT [] synonym: "Shashi X-linked mental retardation syndrome" EXACT [] synonym: "SMRXS" EXACT [] synonym: "syndromic intellectual developmental disorder 11, Shashi type" EXACT [] synonym: "syndromic X-linked intellectual disability type 11" EXACT [] synonym: "syndromic X-linked mental retardation 11" EXACT [] synonym: "syndromic X-linked mental retardation 11, Shashi type" EXACT [] synonym: "X-linked mental retardation, Shashi type" EXACT [] xref: MESH:C537135 xref: ORDO:85286 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060827 name: X-linked intellectual disability-psychosis-macroorchidism syndrome alt_id: DOID:9006524 alt_id: MIM:300055 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10986043 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8651288 "DO"] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16" EXACT [] synonym: "Lindsay-Burn syndrome" EXACT [] synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT [] synonym: "MRX16" EXACT [] synonym: "MRX79" EXACT [] synonym: "MRXS13" EXACT [] synonym: "PPM-X" EXACT [] synonym: "PPMX" EXACT [] synonym: "Ppm-X Syndrome" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 13" EXACT [] synonym: "syndromic X-linked mental retardation 13" EXACT [] synonym: "X-linked mental retardation 16" EXACT [] synonym: "X-linked mental retardation 79" EXACT [] synonym: "X-linked mental retardation, with spasticity" EXACT [] xref: ICD10CM:F71.1 xref: MESH:C563139 xref: MESH:C564724 xref: MESH:C566876 xref: MESH:C566877 xref: ORDO:3077 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2468 ! psychotic disorder is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0060828 name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22814392 "DO"] synonym: "MRXS32" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 32" EXACT [] synonym: "syndromic X-linked mental retardation 32" EXACT [] xref: MIM:300886 xref: ORDO:324410 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060830 name: deafness-intellectual disability, Martin-Probst type syndrome alt_id: MIM:300519 def: "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11073537 "DO"] synonym: "Martin-Probst Deafness-Mental Retardation Syndrome" EXACT [] synonym: "Martin-Probst syndrome" EXACT [] synonym: "MRXSMP" EXACT [] synonym: "syndromic X-linked mental retardation, Martin-Probst type" EXACT [] xref: MESH:C564495 xref: ORDO:85321 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060831 name: Griscelli syndrome def: "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"] synonym: "Chediak-Higashi-like syndrome" EXACT [] synonym: "Chédiak-Higashi-like syndrome" EXACT [] synonym: "Griscelli disease" EXACT [] synonym: "Griscelli-Prunieras syndrome" EXACT [] synonym: "Griscelli-Pruniéras syndrome" EXACT [] synonym: "partial albinism-immunodeficiency syndrome" EXACT [] xref: GARD:10913 xref: MIM:PS214450 xref: ORDO:381 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10123 ! pigmentation disease is_a: DOID:3263 ! piebaldism is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-01-26T00:00:00Z [Term] id: DOID:0060832 name: Griscelli syndrome type 1 alt_id: MIM:214450 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207796 "DO"] synonym: "Griscelli-Prunieras syndrome type 1" EXACT [] synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [] synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [] synonym: "Griscelli syndrome, cutaneous and neurologic type" EXACT [] synonym: "Griscelli syndrome with neurological impairment" EXACT [] synonym: "Griscelli syndrome with neurologic impairment" EXACT [] synonym: "GS1" EXACT [] synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [] synonym: "Partial albinism and primary neurologic disease without hemophagocytic syndrome" EXACT [] xref: GARD:2566 xref: MESH:C537301 xref: ORDO:79476 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060833 name: Griscelli syndrome type 2 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"] synonym: "Griscelli-Prunieras syndrome type 2" EXACT [] synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [] synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [] synonym: "GS2" EXACT [] synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [] synonym: "PAID syndrome" EXACT [] synonym: "Partial albinism and immunodeficiency" EXACT [] synonym: "partial albinism and immunodeficiency syndrome" EXACT [] synonym: "partial albinism with immunodeficiency" EXACT [] xref: GARD:4483 xref: MESH:C537302 xref: MIM:607624 xref: MONDO:0011872 xref: NCI:C111814 xref: ORDO:79477 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060834 name: Griscelli syndrome type 3 alt_id: MIM:609227 def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12148598 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12897212 "DO"] synonym: "Griscelli-Prunieras syndrome type 3" EXACT [] synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [] synonym: "GS3" EXACT [] synonym: "Hypomelanosis with no immunologic or neurologic manifestations" EXACT [] xref: GARD:9715 xref: MESH:C537303 xref: ORDO:79478 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060835 name: isolated microphthalmia 6 def: "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15823920 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21397065 "DO"] synonym: "MCOP6" EXACT [] synonym: "posterior nonsyndromic microphthalmia" EXACT [] xref: MIM:613517 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060836 name: isolated microphthalmia 4 alt_id: MIM:613094 def: "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19129173 "DO"] synonym: "MCOP4" EXACT [] xref: MESH:C567757 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060837 name: isolated microphthalmia 5 alt_id: MIM:611040 def: "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17167404 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18554571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19753314 "DO"] synonym: "MCOP5" EXACT [] synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT [] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT [] xref: ICD10CM:Q15.8 xref: MESH:C567024 xref: ORDO:251279 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:13561 ! optic disk drusen [Term] id: DOID:0060838 name: isolated microphthalmia 7 def: "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19864492 "DO"] synonym: "MCOP7" EXACT [] xref: ICD10CM:Q11.0 xref: MIM:613704 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060839 name: isolated microphthalmia 2 alt_id: MIM:610093 def: "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15257456 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3378363 "DO"] synonym: "isolated clinical anophthalmia" EXACT [] synonym: "MCOP2" EXACT [] synonym: "VSX2-RELATED CONDITION" BROAD [] xref: MESH:C566446 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060840 name: isolated microphthalmia 1 alt_id: MIM:251600 def: "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9545413 "DO"] synonym: "autosomal recessive microphthalmos" EXACT [] synonym: "isolated clinical anophthalmia" EXACT [] synonym: "MCOP" EXACT [] synonym: "MCOP1" EXACT [] xref: MESH:C565377 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060841 name: isolated microphthalmia 8 def: "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23312594 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23591992 "DO"] synonym: "MCOP8" EXACT [] xref: MIM:615113 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060842 name: isolated microphthalmia 3 alt_id: MIM:611038 def: "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14662654 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18783408 "DO"] synonym: "MCOP3" EXACT [] xref: MESH:C567025 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060843 name: hereditary neuropathy with liability to pressure palsies def: "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12682341 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2540008 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8422677 "DO"] synonym: "compression neuropathy" EXACT [] synonym: "current pressure-sensitive neuropathy" EXACT [] synonym: "familial pressure sensitive neuropathy" EXACT [] synonym: "familial recurrent polyneuropathy" EXACT [] synonym: "hereditary liability to pressure palsies" EXACT [] synonym: "hereditary neuropathy with liability to pressure palsy" EXACT [] synonym: "hereditary pressure sensitive neuropathy" EXACT [] synonym: "heterozygous microdeletion 17p11.2p12" EXACT [] synonym: "HNPP" EXACT [] synonym: "inherited tendency to pressure palsies" EXACT [] synonym: "potato-grubbing palsy" EXACT [] synonym: "tomaculous neuropathy" EXACT [] synonym: "tulip-bulb digger's palsy" EXACT [] xref: GARD:5221 xref: MESH:C536965 xref: MIM:162500 xref: MONDO:0008087 xref: ORDO:640 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:0060844 name: Norrie disease def: "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303235 "DO", https://www.ncbi.nlm.nih.gov/pubmed/13998843 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7627181 "DO"] synonym: "Anderson-Warburg syndrome" EXACT [] synonym: "atrophia bulborum hereditaria" EXACT [] synonym: "Congenital Progressive Oculo-Acoustico-Cerebral Degeneration" EXACT [] synonym: "Episkopi blindness" EXACT [] synonym: "Fetal Iritis Syndrome" EXACT [] synonym: "ND" EXACT [] synonym: "Norrie's disease" EXACT [] synonym: "Norrie syndrome" EXACT [] synonym: "Norrie-Warburg disease" EXACT [] synonym: "Norrie-Warburg syndrome" EXACT [] synonym: "Oligophrenia Microphthalmus" EXACT [] synonym: "pseudoglioma" EXACT [] synonym: "pseudoglioma congenita" EXACT [] synonym: "Whitnall-Norman syndrome" EXACT [] xref: GARD:7224 xref: MESH:C537849 xref: MIM:310600 xref: MONDO:0010691 xref: NCI:C118634 xref: ORDO:649 is_a: DOID:0050562 ! West syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1432 ! blindness is_a: DOID:863 ! nervous system disease [Term] id: DOID:0060847 name: Leri-Weill dyschondrosteosis alt_id: MIM:127300 def: "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO)" [https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10713888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21712857 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9590292 "DO"] synonym: "DCO MADELUNG DEFORMITY" NARROW [] synonym: "DYSCHONDROSTEOSIS" NARROW [] synonym: "Leri-Weil syndrome" EXACT [] synonym: "LWD" EXACT [] synonym: "Léri-Weill dyschondrosteosis" EXACT [] xref: GARD:3224 xref: MESH:C537119 xref: NCI:C126560 xref: ORDO:240 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0060848 name: developmental and epileptic encephalopathy 9 alt_id: MIM:300088 def: "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20830798/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18469813 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19752159 "DO"] synonym: "convulsive disorder and mental retardation" EXACT [] synonym: "DEE9" EXACT [] synonym: "early infantile epileptic encephalopathy 9" EXACT [] synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [] synonym: "EFMR" EXACT [] synonym: "EIEE9" EXACT [] synonym: "female-restricted epilepsy with mental retardation" EXACT [] synonym: "Juberg-Hellman syndrome" EXACT [] xref: GARD:10806 xref: MESH:C564715 xref: NCI:C201590 xref: ORDO:101039 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0060849 name: osteoporosis-pseudoglioma syndrome alt_id: MIM:259770 def: "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11719191 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20034086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3955877 "DO"] synonym: "ocular form of osteogenesis imperfecta" EXACT [] synonym: "OPPG" EXACT [] synonym: "OPS" EXACT [] synonym: "osteogenesis imperfecta, ocular form" EXACT [] synonym: "osteoporosis with pseudoglioma" EXACT [] synonym: "pseudoglioma with bone fragility" EXACT [] xref: GARD:4160 xref: MESH:C536063 xref: NCI:C130998 xref: ORDO:2788 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0060850 name: annular pancreas alt_id: MIM:167750 alt_id: RDO:0001939 def: "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1860255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/677171 "DO"] xref: GARD:705 xref: ICD10CM:Q45.1 xref: MESH:C536376 xref: NCI:C98813 xref: ORDO:675 is_a: DOID:26 ! pancreas disease [Term] id: DOID:0060851 name: pemphigus vulgaris alt_id: MIM:169610 def: "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2217197 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4577497 "DO"] synonym: "familial pemphigus vulgaris" EXACT [] xref: EFO:0004719 xref: GARD:7355 xref: ICD10CM:L10.0 xref: MESH:C536645 xref: NCI:C34910 xref: ORDO:704 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0060852 name: Pierson syndrome alt_id: MIM:609049 def: "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15367484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15372515 "DO"] synonym: "congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome" EXACT [] synonym: "microcoria and congenital nephrotic syndrome" EXACT [] synonym: "microcoria-congenital nephrosis syndrome" EXACT [] synonym: "microcoria-congenital nephrotic syndrome" EXACT [] xref: GARD:9420 xref: MESH:C537185 xref: NCI:C128145 xref: ORDO:2670 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:238 ! pupil disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060853 name: Potocki-Lupski syndrome def: "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615134 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425816 "DO"] synonym: "17p11.2 microduplication syndrome" EXACT [] synonym: "chromosome 17p11.2 duplication syndrome" EXACT [] synonym: "chromosome 17, trisomy 17p11 2" EXACT [] synonym: "duplication 17p11.2 syndrome" EXACT [] synonym: "duplication 17p11 2" EXACT [] synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" EXACT [] synonym: "PTLS" EXACT [] synonym: "trisomy 17p11.2" EXACT [] xref: GARD:10145 xref: MESH:C538355 xref: MIM:610883 xref: MONDO:0012574 xref: NCI:C124846 xref: ORDO:1713 is_a: DOID:9003960 ! Trisomy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060854 name: autosomal recessive pseudohypoaldosteronism type 1 def: "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10202170 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10404817 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8589714 "DO"] synonym: "autosomal recessive PHA 1" EXACT [] synonym: "autosomal recessive pseudohypoaldosteronism type I" EXACT [] synonym: "PHA1B" EXACT [] synonym: "recessive pseudohypoaldosteronism type I" EXACT [] xref: GARD:4552 xref: NCI:C123251 xref: ORDO:171876 xref: ORDO:756 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4479 ! pseudohypoaldosteronism created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060855 name: autosomal dominant pseudohypoaldosteronism type 1 alt_id: RDO:9003076 def: "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662404 "DO"] synonym: "autosomal dominant PHA 1" EXACT [] synonym: "PHA1A" EXACT [] synonym: "pseudohypoaldosteronism, type I, autosomal dominant" EXACT [] synonym: "pseudohypoaldosteronism, type I, dominant" EXACT [] xref: GARD:9145 xref: MIM:177735 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4479 ! pseudohypoaldosteronism created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060856 name: right atrial isomerism def: "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14648004 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20413652 "DO"] synonym: "asplenia with cardiovascular anomalies" RELATED [] synonym: "Ivemark syndrome" EXACT [] synonym: "right atrial isomerisms" EXACT [] synonym: "right atrial isomerism wit