format-version: 1.2 data-version: 1.353 date: 14:02:2026 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", PMID: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: MONDO:0016982 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 involves 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: MONDO:0005066 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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID:15462465 "DO"] 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)" [PMID: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)" [PMID:2312995 "DO"] synonym: "respiratory allergy to Reactive Black 5" EXACT [] is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040062 name: chloramine T respiratory allergy def: "A respiratory allergy that has_allergic_trigger chloramine T. (DO)" [PMID: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 [Term] id: DOID:0040063 name: 4-vinylcyclohexene dioxide respiratory allergy def: "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID:3128591 "DO"] synonym: "DSCG allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040074 name: formaldehyde allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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 (Betapolyomavirus hominis). (DO)" [PMID:16537617 "DO"] synonym: "PVAN" EXACT [] is_a: DOID:557 ! kidney disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0040087 name: autoimmune peripheral neuropathy def: "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO)" [PMID: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)" [PMID:12938234 "DO"] xref: MONDO:0031012 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)" [PMID: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)" [PMID: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)" [PMID: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:0051065 ! chronic pancreatitis is_a: DOID:0060005 ! autoimmune disease of endocrine system [Term] id: DOID:0040092 name: juvenile ankylosing spondylitis def: "An ankylosing spondylitis with onset during childhood. (DO)" [PMID:7541736 "DO"] xref: ICD10CM:M08.1 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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID:28295200 "DO"] synonym: "neoprene allergy" RELATED [] 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)" [PMID:28295200 "DO"] synonym: "neoprene allergy" RELATED [] 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)" [PMID: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 (Alphavirus chikungunya), 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", https://www.cdc.gov/chikungunya/about/ "DO"] synonym: "chikungunya fever" EXACT [] synonym: "Chikungunya Virus Infection" EXACT [] synonym: "Chikungunya Virus Infections" EXACT [] xref: GARD:6038 xref: MESH:D065632 xref: MONDO:0017941 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)" [PMID: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: MONDO:0000226 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://www.cdc.gov/otherspottedfever/index.html "DO", PMID:7985764 "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 [] xref: MONDO:0000234 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)" [PMID: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 xref: MONDO:0000245 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)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&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 (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO)" [https://en.wikipedia.org/wiki/La_Crosse_encephalitis "DO", https://www.cdc.gov/la-crosse-encephalitis/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK562248/ "DO"] synonym: "California encephalitis" 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 xref: MONDO:0019378 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 (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO)" [http://en.wikipedia.org/wiki/Dengue_shock_syndrome "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC3097561/ "DO"] synonym: "DSS" EXACT [] xref: MONDO:0000248 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"] synonym: "CHES" NARROW [] synonym: "chronic hyperplastic eosinophilic sinusitis" NARROW [] 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 xref: MONDO:0024268 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 (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO)" [PMID:28107858 "DO", PMID:29111183 "DO"] xref: MONDO:0000259 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", PMID:19529061 "DO", PMID:23243352 "DO", PMID:24019633 "DO", PMID: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", https://www.merriam-webster.com/medical/otomycosis "DO"] synonym: "otomycoses" EXACT [] synonym: "Singapore ear" EXACT [] xref: MESH:D059249 xref: MONDO:0000262 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)" [https://www.merriam-webster.com/medical/laryngotracheitis "DO"] xref: ICD10CM:J04 xref: ICD10CM:J37.1 xref: ICD9CM:464 xref: ICD9CM:476.1 xref: MONDO:0000263 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", PMID: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: "aspiration pneumonias" EXACT [] synonym: "gastric acid aspiration syndrome" EXACT [] xref: MESH:D011015 xref: MONDO:0000265 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 [] 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://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", PMID:32855221 "DO"] 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: "Idiopathic Fibrosing Alveolitis, Chronic Form" EXACT [] synonym: "idiopathic pulmonary fibroses" EXACT [] synonym: "idiopathic pulmonary fibrosis, susceptibility to" RELATED [] synonym: "IPF" EXACT [] synonym: "SFTPA2-related condition" BROAD [] synonym: "UIP Hamman Rich disease" NARROW [] synonym: "usual interstitial pneumonia" RELATED [] synonym: "usual interstitial pneumonias" RELATED [] synonym: "usual interstitial pneumonitis" RELATED [] xref: EFO:0000768 xref: GARD:8609 xref: ICD10CM:J84.112 xref: ICD9CM:516.31 xref: MESH:D054990 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", PMID: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://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", PMID:11790668 "DO", PMID:16142185 "DO", PMID:16456642 "DO", PMID: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)" [PMID: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", PMID: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 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 xref: MIM:240300 xref: MONDO:0009411 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 (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO)" [https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx "DO", PMID:2552010 "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 (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO)" [https://en.wikipedia.org/wiki/Tick-borne_encephalitis "DO", https://www.cdc.gov/tick-borne-encephalitis/about/ "DO", https://www.ecdc.europa.eu/en/tick-borne-encephalitis "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 (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC9494578/ "DO", https://www.cdc.gov/powassan/about/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC5732952/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK570599/ "DO"] synonym: "Powassan Encephalitides" EXACT [] xref: MONDO:0000276 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 xref: MONDO:0006545 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 (Henipavirus nipahense), 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://pmc.ncbi.nlm.nih.gov/articles/PMC9345211/ "DO", https://www.cdc.gov/nipah-virus/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK570576/ "DO", https://www.who.int/csr/disease/nipah/en/ "DO", PMID:19141846 "DO"] xref: MONDO:0020499 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 (Mammarenavirus juninense), 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: MONDO:0017874 is_a: DOID:9006665 ! Arenavirus hemorrhagic fever 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 Machupo virus (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 xref: MONDO:0017875 is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:9006665 ! Arenavirus hemorrhagic fever [Term] id: DOID:0050196 name: Venezuelan hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus (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)" [PMID:34917387 "DO", PMID:7840443 "DO"] xref: MONDO:0017876 xref: ORDO:319234 is_a: DOID:3944 ! Arenaviridae 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 Sabia virus (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", PMID:7905555 "DO"] xref: MONDO:0017877 is_a: DOID:3944 ! Arenaviridae 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 Chapare virus (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"] xref: MONDO:0017878 is_a: DOID:3944 ! Arenaviridae 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 Whitewater Arroyo virus (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"] xref: MONDO:000028 is_a: DOID:3944 ! Arenaviridae 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", PMID: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. 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)" [PMID:1349231 "DO", PMID:2574903 "DO", PMID:2902106 "DO"] xref: MONDO:0000284 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 (Mammarenavirus lujoense), which has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom thrombocytopenia, and has_symptom bleeding. Bleeding is minor and not a prominent symptom. (DO)" [https://en.wikipedia.org/wiki/Lujo_virus "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC2866397/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC4230886/ "DO", https://www.cdc.gov/lujo-fever/about/index.html "DO", PMID:19478873 "DO"] xref: GARD:21410 xref: ICD10CM:A96.8 xref: MESH:C000723471 xref: MONDO:0017872 xref: ORDO:319213 is_a: DOID:3944 ! Arenaviridae 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 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO)" [PMID:16711324 "DO", PMID:17602362 "DO"] xref: MONDO:0000286 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 (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO)" [https://www.cdc.gov/swine-flu/about/index.html "DO", PMID:9140195 "DO"] xref: EFO:0005226 xref: MONDO:0005460 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 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: MONDO:0018556 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: MONDO:0018039 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 xref: MONDO:0000290 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: MONDO:0000295 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 xref: MONDO:0019498 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"] xref: MONDO:0030906 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)" [https://en.wikipedia.org/wiki/Basidiobolomycosis "DO"] xref: MONDO:0000302 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)" [https://en.wikipedia.org/wiki/Conidiobolomycosis "DO"] xref: MONDO:0000303 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)" [PMID: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)" [https://dermnetnz.org/topics/skin-manifestations-of-systemic-mycoses "DO"] xref: MONDO:0000308 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: Alkhumra hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO)" [http://en.wikipedia.org/wiki/Alkhurma_virus "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/ "DO", https://www.cdc.gov/alkhurma/about/ "DO"] synonym: "Alkhurma hemorrhagic fever" RELATED [] xref: MONDO:0000310 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 [] xref: MIM:149730 xref: MONDO:0100302 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", PMID: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 [] xref: MONDO:0000314 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", PMID:24727150 "DO"] xref: MONDO:0000315 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)" [PMID: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)" [PMID:2921777 "DO", PMID:8415591 "DO"] xref: MONDO:0007763 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: MONDO:0018984 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)" [MIM: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 is characterized by predisposition to colon cancer. (DO)" [http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1345/ "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: "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: MONDO:0021057 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, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO)" [https://rarediseases.org/rare-diseases/hailey-hailey-disease/ "DO"] synonym: "ATP2C1-RELATED CONDITION" EXACT [] 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 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.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO", PMID:15965261 "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: MIM:171400 xref: MONDO:0008234 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", PMID: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 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: MIM:170390 xref: MONDO:0008222 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 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" BROAD [] xref: GARD:95 xref: MESH:C538604 xref: MESH:D050336 xref: MIM:253250 xref: MONDO:0009664 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 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: "LAMP2-related condition" BROAD [] 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: MIM:300257 xref: MONDO:0010281 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 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: MIM:136680 xref: MONDO:0007635 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", MIM: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 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: MIM:272200 xref: MONDO:0010088 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://en.wikipedia.org/wiki/Infantile_Refsum_disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK560618/ "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 hypophosphatemic rickets def: "A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)" [http://en.wikipedia.org/wiki/X-linked_hypophosphatemia "DO", https://www.ncbi.nlm.nih.gov/books/NBK83985/ "DO"] synonym: "FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS" EXACT [] synonym: "PHEX-related condition" BROAD [] synonym: "XLH" EXACT [] synonym: "XLHR" EXACT [] synonym: "X-linked dominant hypophosphatemic rickets" EXACT [] synonym: "X-linked hypophosphatemia" EXACT [] synonym: "X-linked vitamin D resistant rickets" EXACT [] xref: GARD:12943 xref: MIM:307800 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", PMID: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: "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: "subcortical band heterotopia" NARROW [] xref: EFO:0011063 xref: GARD:12291 xref: ICD10CM:Q04.3 xref: MESH:D054082 xref: MIM:PS607432 xref: MONDO:0018838 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 [] synonym: "SLC11A1-RELATED CONDITION" BROAD [] 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: "CBL-RELATED CONDITION" BROAD [] 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: "GALNT3-related condition" BROAD [] synonym: "hyperphosphatemias" EXACT [] xref: MESH:D054559 xref: MONDO:0000328 xref: NCI:C113750 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050460 name: Wolf-Hirschhorn syndrome 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: "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: MIM:194190 xref: MONDO:0008684 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", PMID: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: "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency" EXACT [] synonym: "POR deficiency" EXACT [] synonym: "POR-RELATED DISORDER" BROAD [] synonym: "trapezoidocephaly synostosis syndrome" EXACT [] xref: MIM:201750 xref: MONDO:0008726 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 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 dysplasia with autosomal sex reversal" RELATED [] synonym: "campomelic dwarfism" EXACT [] synonym: "campomelic dysplasias" EXACT [] synonym: "campomelic syndrome" EXACT [] synonym: "campomelic syndromes" EXACT [] synonym: "camptomelic dysplasia" EXACT [] synonym: "CMD1" EXACT [] synonym: "CMPD" EXACT [] synonym: "CMPD1/SRA1" BROAD [] synonym: "SOX9-related condition" BROAD [] xref: EFO:0004140 xref: GARD:10027 xref: MESH:D055036 xref: MIM:114290 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: "ASAH1-RELATED CONDITION" BROAD [] synonym: "ASAH1-RELATED SPHINGOLIPIDOSIS" RELATED [] 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 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: MIM:158320 xref: MONDO:0008018 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 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)" [PMID:28241848 "DO"] synonym: "lymphedema and yellow nails" EXACT [] synonym: "YNS" EXACT [] xref: EFO:1001452 xref: GARD:184 xref: ICD10CM:L60.5 xref: MESH:D056684 xref: MIM:153300 xref: MONDO:0007921 xref: NCI:C85238 is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0050469 name: Costello syndrome 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)" [PMID:17250658 "DO", PMID: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: MIM:218040 xref: MONDO:0009026 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 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:C562709 xref: MESH:D056731 xref: MIM:246200 xref: MONDO:0009517 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 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: "nodose hair" EXACT [] xref: GARD:93 xref: ICD10CM:Q84.1 xref: MESH:D056734 xref: MONDO:0008009 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 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" BROAD [] synonym: "ALSS" EXACT [] synonym: "Alstrom's syndrome" EXACT [] synonym: "Alstrom Hallgren syndrome" EXACT [] synonym: "Alstroms syndrome" EXACT [] xref: MESH:D056769 xref: MIM:203800 xref: MONDO:0008763 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 [] synonym: "SPINK5-RELATED CONDITION" 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 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://www.ninds.nih.gov/disorders/barth/barth.htm "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: MIM:302060 xref: MONDO:0010543 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 betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) 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", https://www.ncbi.nlm.nih.gov/books/NBK448190/ "DO"] synonym: "exanthem subitum" EXACT [] synonym: "roseola infantum" EXACT [] synonym: "sixth disease" EXACT [] xref: EFO:1001320 xref: ICD10CM:B08.2 xref: ICD9CM:058.1 xref: MESH:D005077 xref: MONDO:0000337 xref: NCI:C128420 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 (Orthopoxvirus variola). The infection results_in_formation_of lesions. (DO)" [https://stacks.cdc.gov/view/cdc/26503 "DO", https://www.cdc.gov/smallpox/hcp/clinical-signs/index.html "DO", https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox "DO", https://www.ncbi.nlm.nih.gov/books/NBK470418/ "DO"] synonym: "ordinary smallpox" EXACT [] xref: ICD9CM:050.0 xref: MONDO:0000338 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 (Alphavirus onyong), 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", https://doi.org/10.1016/0035-9203(60)90025-0 "DO", https://ph.health.mil/PHC%20Resource%20Library/Onyong-nyongVirus_FS_18-087-0517.pdf "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC3293492/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC5694854/ "DO"] synonym: "O'nyong'nyong fever" EXACT [] synonym: "O'nyong nyong fever" EXACT [] xref: ICD10CM:A92.1 xref: MONDO:0000342 is_a: DOID:9007339 ! Alphavirus Infections 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 (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [https://en.wikipedia.org/wiki/Barmah_Forest_virus "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 (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ross_River_fever "DO", https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ross-river-virus-disease "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 (Orthobunyavirus oropoucheense), 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", https://pmc.ncbi.nlm.nih.gov/articles/PMC5923469/ "DO", https://wwwnc.cdc.gov/eid/article/13/6/06-1114_article "DO"] xref: ICD10CM:A93.0 xref: MONDO:0000345 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 (Orthohantavirus dobravaense), 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"] xref: MONDO:0000346 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-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO)" [http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma "DO", https://www.ncbi.nlm.nih.gov/books/NBK558968/ "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 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 xref: MONDO:0019471 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 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: MIM:PS125850 xref: MONDO:0018911 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 def: "A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO"] synonym: "MPLKIP-related condition" BROAD [] 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: MIM:234050 xref: MONDO:0021013 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", ORDO: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: "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 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 xref: MONDO:0019011 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", PMID: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 4" EXACT [] xref: GARD:12440 xref: MONDO:0018995 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)" [ORDO:93114 "DO", PMID:16775371 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal dominant intermediate" NARROW [] synonym: "Charcot-Marie-Tooth disease, dominant intermediate" NARROW [] synonym: "Charcot-Marie-Tooth disease, recessive intermediate" NARROW [] synonym: "Charcot-Marie-Tooth, intermediate" EXACT [] xref: MONDO:0018778 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 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: "CYP11A1-RELATED CONDITION" 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 complete gonadal dysgenesis 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", MIM: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 def: "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)" [MIM: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" NARROW [] synonym: "hereditary sensory radicular neuropathy, autosomal recessive" NARROW [] synonym: "hereditary sensory radicular neuropathy, recessive form" NARROW [] synonym: "HSAN" EXACT [] synonym: "HSAN (hereditary sensory autonomic neuropathy)" EXACT [] xref: MESH:D009477 xref: MIM:PS162400 xref: MONDO:0015364 xref: OMIA:001514 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 or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. (DO)" [https://www.nomidalliance.org/candle.php "DO", PMID:21129723 "DO", PMID:21852578 "DO", PMID:21881205 "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 [] synonym: "PSMB8-related condition" BROAD [] xref: GARD:10988 xref: GARD:3916 xref: GARD:3917 xref: MIM:256040 xref: MONDO:0054698 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: "ABCB7-RELATED CONDITION" EXACT [] 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/health-information/disorders/muscular-dystrophy "DO"] synonym: "CMD" EXACT [] synonym: "congenital muscular dystrophy, alpha-dystroglycan related" NARROW [] xref: GARD:9138 xref: ICD9CM:359.0 xref: MONDO:0019950 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", PMID: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:1827 ! 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 NONSYNDROMIC HEARING LOSS" 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 xref: MONDO:0005501 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 [] synonym: "LATE-ONSET CONE-ROD DYSTROPHY" NARROW [] 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", PMID:20817137 "DO"] synonym: "Levin syndrome" EXACT [] synonym: "Sensenbrenner syndrome" EXACT [] xref: MESH:C562966 xref: MIM:PS218330 xref: MONDO:0009032 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: "OCCULT MACULOPATHY" EXACT [] synonym: "OCMD" EXACT [] synonym: "OMD" EXACT [] synonym: "RP1L1-related condition" BROAD [] xref: MIM:613587 xref: MONDO:0013316 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)" [MIM: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)" [PMID: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)" [MIM: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: "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", PMID: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)" [PMID:17689125 "DO", PMID:25266922 "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", MIM: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)" [PMID: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: "AAAS-RELATED CONDITION" 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 def: "An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35. (DO)" [https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia "DO", PMID:34530144 "DO"] synonym: "ACFD" EXACT [] synonym: "IHH-related condition" BROAD [] synonym: "IHH-related disorders" BROAD [] xref: GARD:10605 xref: MESH:C564334 xref: MIM:607778 xref: MONDO:0011907 xref: ORDO:63446 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 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" BROAD [] xref: GARD:5723 xref: MESH:C538178 xref: MIM:201100 xref: MONDO:0008713 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: "ATP2A2-RELATED CONDITION" BROAD [] 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 [] synonym: "PNET of thoracopulmonary region" EXACT [] xref: EFO:1000095 xref: MESH:C563168 xref: MONDO:0006094 xref: NCI:C7542 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)" [PMID: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 [] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [] synonym: "cancer of paranasal sinus" EXACT [] synonym: "carcinoma of accessory sinus" EXACT [] synonym: "carcinoma of paranasal sinus" EXACT [] synonym: "mucoepidermoid carcinoma of accessory sinus" EXACT [] synonym: "paranasal sinus adenocarcinoma" EXACT [] synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] synonym: "paranasal sinus cancers" EXACT [] synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [] xref: EFO:1000454 xref: MONDO:0020669 xref: NCI:C6014 xref: NCI:C6017 xref: NCI:C6018 xref: NCI:C6019 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: MONDO:0000382 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://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO", https://agsaa.org/about-ags "DO", MIM:225750 "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: NCI:C206077 xref: ORDO:51 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:225 ! syndrome 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 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)" [MIM: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 xref: MIM:300600 xref: MONDO:0010371 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", MIM: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: "SLC16A2-RELATED CONDITION" 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 [] synonym: "HR-RELATED CONDITION" BROAD [] 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: hereditary systemic amyloidosis 2 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" EXACT [] synonym: "amyloidosis 8" EXACT [] synonym: "amyloidosis VIII" EXACT [] synonym: "cardiac and cutaneous amyloidosis" NARROW [] synonym: "familial renal amyloidosis" EXACT [] synonym: "familial visceral amyloidosis" EXACT [] synonym: "German type amyloidosis" EXACT [] 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 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: "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" BROAD [] synonym: "Kymenlaakso syndrome" EXACT [] synonym: "lattice corneal dystrophy associated with familial systemic amyloidosis" EXACT [] synonym: "lattice corneal dystrophy, Gelsolin type" EXACT [] synonym: "lattice corneal dystrophy, type II" EXACT [] synonym: "lattice dystrophy of the cornea with hereditary generalized amyloidosis" EXACT [] synonym: "LCD2" EXACT [] synonym: "Meretoja's syndrome" EXACT [] synonym: "Meretoja syndrome" EXACT [] synonym: "Meretoja type amyloidosis" EXACT [] xref: GARD:2339 xref: MESH:C537459 xref: MIM:105120 xref: MONDO:0007097 xref: ORDO:85448 is_a: DOID:0050639 ! primary cutaneous amyloidosis is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:0050638 name: hereditary systemic amyloidosis 1 alt_id: DOID:0050761 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", PMID: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: "transthyretin amyloidosis" EXACT [] synonym: "TTR amyloidosis" EXACT [] xref: EFO:0004129 xref: GARD:656 xref: ICD10CM:E85.82 xref: MESH:C567782 xref: MIM:105210 xref: MONDO:0971004 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)" [PMID: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 def: "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO", PMID:16252239 "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 xref: MIM:607095 xref: MONDO:0054560 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", PMID: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 [] synonym: "SLC2A10-RELATED CONDITION" 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 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", ORDO:1187 "DO", PMID: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: MIM:301835 xref: MONDO:0010533 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", MIM:209300 "DO", PMID:29969719 "DO"] synonym: "Congenital Atransferrinemia" EXACT [] synonym: "Familial hypotransferrinemia" EXACT [] synonym: "TF-RELATED CONDITION" 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: "FOXE1-RELATED DISORDER" BROAD [] 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)" [PMID: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: "OCLN-RELATED DISORDER" 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: Cowden syndrome 1 alt_id: DOID:0080191 alt_id: MESH:C566636 alt_id: OMIA:001515 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", PMID:31062505 "DO"] synonym: "Bannayan-Riley-Ruvalcaba syndrome" NARROW [] synonym: "Bannayan-Zonana syndrome" NARROW [] synonym: "BRRS" NARROW [] synonym: "BZS" EXACT [] synonym: "cerebellar granule cell hypertrophy and megalencephaly" NARROW [] synonym: "cerebelloparenchymal disorder VI" NARROW [] synonym: "Colorectal hamartomatous polyposis and ganglioneuromatosis" NARROW [] synonym: "CS" EXACT [] synonym: "CWS1" EXACT [] synonym: "dysplastic cerebellar gangliocytoma" NARROW [] synonym: "dysplastic gangliocytoma of cerebellum" NARROW [] synonym: "HAMARTOMATOUS POLYPOSIS" RELATED [] synonym: "Lhermitte-Duclos disease" NARROW [] synonym: "macrocephaly, multiple lipomas and hemangiomata" EXACT [] synonym: "macrocephaly, pseudopapilledema and multiple hemangiomas" EXACT [] synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" EXACT [] synonym: "MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM" NARROW [] synonym: "Multiple Hamartoma Syndrome" EXACT [] synonym: "multiple hamartoma syndromes" EXACT [] synonym: "PHTS" EXACT [] synonym: "Proteus-like syndrome" NARROW [] synonym: "PTEN hamartoma tumor syndrome" EXACT [] synonym: "PTEN hamartoma tumor syndrome with granular cell tumor" EXACT [] synonym: "Riley-Smith syndrome" NARROW [] synonym: "RMSS" EXACT [] synonym: "Ruvalcaba-Myhre-Smith syndrome" NARROW [] synonym: "segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome" NARROW [] synonym: "SOLAMEN syndrome" NARROW [] xref: GARD:12800 xref: GARD:5887 xref: GARD:6901 xref: ICD10CM:Q85.81 xref: ICDO:9493/0 xref: MESH:D006223 xref: MIM:158350 xref: NCI:C179915 xref: NCI:C179930 xref: NCI:C3939 xref: NCI:C8419 xref: ORDO:109 xref: ORDO:137608 xref: ORDO:306498 xref: ORDO:65285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:255 ! hemangioma is_a: DOID:6457 ! Cowden syndrome is_a: DOID:9001030 ! Multiple Primary Neoplasms is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes 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 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 xref: MIM:607483 xref: MONDO:0011841 xref: NCI:C212885 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: "juvenile-onset vitelliform macular dystrophy" EXACT [] 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)" [MIM:611809 "DO", PMID:24859690 "DO", PMID:25545482 "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. (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 xref: MONDO:0008029 xref: ORDO:610 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 CONDITION" 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 xref: MONDO:0000395 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", PMID:24703317 "DO", PMID: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: MONDO:0022697 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 [] xref: MONDO:0000400 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", PMID: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: MONDO:0018841 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: "KCNK9-RELATED CONDITION" 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 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: MIM:135150 xref: MIM:620459 xref: MONDO:0007607 xref: MONDO:0800444 xref: NCI:C28244 xref: OMIA:001335 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)" [MIM:303700 "DO", ORDO: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:16 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 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://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: "MRXSBFL" EXACT [] synonym: "PHF6-RELATED CONDITION" EXACT [] synonym: "syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type" EXACT [] xref: GARD:936 xref: MESH:C536575 xref: MIM:301900 xref: MONDO:0010537 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)" [MIM:601536 "DO", PMID:18412118 "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 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)" [MIM:607475 "DO", PMID:11176989 "DO"] synonym: "Vasterbotten dystrophy" EXACT [] xref: MESH:C564392 xref: MIM:607475 xref: MONDO:0011838 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)" [MIM:211180 "DO", PMID:19463982 "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 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" NARROW [] synonym: "small cell carcinomas" EXACT [] xref: EFO:0008524 xref: EFO:1000519 xref: ICDO:8041/3 xref: MESH:D018288 xref: MIM:182280 xref: MONDO:0000402 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)" [MIM:610713 "DO", PMID:17236141 "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)" [PMID: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.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract "DO", ORDO:1297 "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 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"] synonym: "autosomal recessive Brody myopathy" EXACT [] synonym: "Brody disease" EXACT [] xref: GARD:9158 xref: MESH:C536607 xref: MIM:601003 xref: MONDO:0010977 is_a: DOID:913 ! atrophic muscular disease [Term] id: DOID:0050693 name: Brooke-Spiegler syndrome 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: "BRSS" EXACT [] synonym: "BSS" EXACT [] synonym: "CYLD cutaneous syndrome" EXACT [] synonym: "dermal eccrine cylindroma" EXACT [] synonym: "dermal eccrine cylindromas" EXACT [] synonym: "familial cylindromatosis" EXACT [] synonym: "FAMILIAL MULTIPLE TRICHOEPITHELIOMATA" EXACT [] synonym: "familial trichoepithelioma" EXACT [] synonym: "multiple familial trichoepithelioma" EXACT [] synonym: "SBS" EXACT [] synonym: "Turban tumors" EXACT [] synonym: "Turban tumor syndrome" EXACT [] xref: GARD:10179 xref: MESH:C536611 xref: MIM:132700 xref: MIM:605041 xref: MONDO:0007565 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)" [PMID: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)" [PMID: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: "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 xref: MONDO:0000408 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", https://www.dentdisease.org/ "DO", ORDO:1652 "DO"] synonym: "Dent's disease" EXACT [] synonym: "X-linked hypercalciuric nephrocalcinosis" EXACT [] xref: GARD:13105 xref: MESH:D057973 xref: MIM:PS300009 xref: MONDO:0015612 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: "TNNI3-RELATED DISORDER" NARROW [] 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", PMID: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)" [PMID:20196795 "DO", PMID: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)" [PMID: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)" [PMID: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)" [PMID:20196795 "DO"] xref: MONDO:0000415 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 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: MONDO:0100619 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)" [PMID: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", MIM: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", MIM:604290 "DO"] synonym: "CERULOPLASMIN DEFICIENCY" NARROW [] synonym: "CP-RELATED CONDITION" EXACT [] 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: MONDO:0011426 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 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: MIM:612718 xref: MONDO:0012996 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 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)" [MIM:277400 "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: "PRDX1-RELATED CONDITION" EXACT [] synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase" EXACT [] xref: MESH:C537359 xref: MIM:277400 xref: MONDO:0010184 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 def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)" [MIM:277410 "DO", PMID: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, cblH TYPE, formerly" EXACT [] synonym: "METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD" EXACT [] synonym: "methylmalonic aciduria, cblD type, variant 2" NARROW [] synonym: "METHYLMALONIC ACIDURIA, cblH TYPE, formerly" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, cblD type" EXACT [] xref: MESH:C564743 xref: MIM:277410 xref: MONDO:0010185 xref: NCI:C183524 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050717 name: methylmalonic aciduria and homocystinuria type cblF 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)" [PMID: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: MIM:277380 xref: MONDO:0010183 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", PMID: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 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"] 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: GARD:2830 xref: MESH:C538380 xref: MIM:238970 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)" [PMID:15021249 "DO"] synonym: "NEUROMETABOLIC DISORDER DUE TO SERINE DEFICIENCY" EXACT [] 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 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: "PHGDH-RELATED DISORDER" BROAD [] synonym: "phosphoglycerate dehydrogenase deficiency" EXACT [] xref: MESH:C566618 xref: MIM:601815 xref: MONDO:0011152 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", ORDO:284417 "DO"] synonym: "Phosphoserine Aminotransferase Deficiency" EXACT [] synonym: "PSAT1-RELATED CONDITION" BROAD [] 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", ORDO: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: "FAH-RELATED DISORDER" EXACT [] 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: "ABHD5-RELATED CONDITION" EXACT [] 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", MIM: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 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", MIM:250940 "DO"] synonym: "HMAG" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG 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: MIM:250940 xref: MONDO:0009609 xref: ORDO:2170 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050734 name: congenital intrinsic factor deficiency 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)" [MIM:261000 "DO", ORDO:332 "DO", PMID: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 xref: MIM:261000 xref: MONDO:0009852 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: MONDO:0000426 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)" [MIM:600096 "DO", ORDO: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: 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 alt_id: DOID:9001310 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: "Nicotine Use Disorder" EXACT [] synonym: "Nicotine Use Disorders" EXACT [] synonym: "SLC6A3-RELATED CONDITION" BROAD [] synonym: "smoking habit, susceptibility to" RELATED [] synonym: "tobacco addiction, susceptibility to" RELATED [] synonym: "Tobacco Dependence" EXACT [] synonym: "tobacco use disorder" EXACT [] synonym: "Tobacco Use Disorders" EXACT [] xref: EFO:0003768 xref: ICD10CM:F17 xref: MESH:D014029 xref: MIM:188890 xref: MONDO:0008575 xref: NCI:C54203 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", PMID: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: MONDO:0020325 xref: NCI:C3720 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", PMID: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: "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: "T-cell large granular lymphocyte leukaemia" EXACT [] synonym: "T-cell large granular lymphocytic leukemia" EXACT [] synonym: "T-LGL leukemia" EXACT [] xref: ICDO:9831/3 xref: MESH:D054066 xref: MONDO:0019469 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 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", MIM:608627 "DO"] synonym: "ALS8" EXACT [] synonym: "amyotrophic lateral sclerosis 8" EXACT [] synonym: "VAPB-RELATED DISORDER" BROAD [] xref: GARD:10499 xref: MESH:C563895 xref: MIM:608627 xref: MONDO:0012077 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: "HEREDITARY CEREBELLAR ATAXIA" EXACT [] synonym: "hypermetria" EXACT [] synonym: "hypermetrias" EXACT [] synonym: "neurodegenerative vacuolar storage disease" NARROW [] xref: MESH:D002524 xref: NCI:C140268 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0050754 name: early-onset ataxia with oculomotor apraxia and hypoalbuminemia 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: "APTX-related condition" BROAD [] synonym: "ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA" NARROW [] synonym: "ataxia-oculomotor apraxia 1" EXACT [] synonym: "ataxia-oculomotor apraxia syndrome" EXACT [] synonym: "Ataxia-telangiectasia-like syndrome" EXACT [] synonym: "ataxia with oculomotor apraxia type 1" EXACT [] synonym: "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA" NARROW [] synonym: "EAOH" EXACT [] synonym: "early-onset ataxia with ocular motor apraxia and hypoalbuminemia" EXACT [] synonym: "EOCA-HA" EXACT [] xref: GARD:9283 xref: MESH:C538013 xref: MIM:208920 xref: MONDO:0008842 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 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://www.ncbi.nlm.nih.gov/books/NBK1154/ "DO", PMID:19696032 "DO", PMID:23786967 "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: MIM:606002 xref: MONDO:0018996 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://www.ncbi.nlm.nih.gov/books/NBK1216/ "DO", MIM:304700 "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: MONDO:0011266 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 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 xref: MIM:310440 xref: MONDO:0010684 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:423 ! myopathy [Term] id: DOID:0050762 name: adenylosuccinase lyase deficiency 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" NARROW [] synonym: "adenylosuccinate lyase deficiency type 2" NARROW [] synonym: "adenylosuccinate lyase deficiency type 3" NARROW [] synonym: "adenylosuccinate lyase deficiency type 4" NARROW [] synonym: "ADSLD" EXACT [] synonym: "ADSL deficiency" EXACT [] synonym: "ADSL-related condition" BROAD [] synonym: "succinylpurinemic autism" EXACT [] xref: GARD:550 xref: MESH:C538235 xref: MIM:103050 xref: MONDO:0007068 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", PMID:16896922 "DO", PMID:22753090 "DO", PMID: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)" [PMID: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", PMID: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)" [MIM:604273 "DO"] synonym: "ATPAF2-related condition" EXACT [] synonym: "MC5DN1" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type" EXACT [] xref: MIM:604273 xref: MONDO:0011421 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 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", MIM:171300 "DO"] synonym: "benign adrenal gland pheochromocytoma" NARROW [] synonym: "phaeochromocytoma" EXACT [] synonym: "pheochromocytomas" EXACT [] synonym: "pheochromocytoma, susceptibility to" RELATED [] xref: EFO:1000106 xref: GARD:7385 xref: ICDO:8700/0 xref: MESH:D010673 xref: MIM:171300 xref: MONDO:0008233 is_a: DOID:0060089 ! endocrine organ benign neoplasm [Term] id: DOID:0050772 name: spastic ataxia 1 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 xref: MIM:108600 xref: MONDO:0007164 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: "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: MONDO:0000448 xref: NCI:C3308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050771 ! pheochromocytoma [Term] id: DOID:0050774 name: rapadilino syndrome 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: MIM:266280 xref: MONDO:0009955 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 [] synonym: "SLC35D1-RELATED DISORDER" 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)" [PMID:7011032 "DO"] synonym: "X-linked non-specific mental retardation" EXACT [] xref: MESH:C564490 xref: MIM:PS309530 xref: MONDO:0019181 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", MIM:213300 "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", PMID: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", PMID:21700266 "DO"] synonym: "NAA10-RELATED CONDITION" BROAD [] 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.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome "DO", PMID:28949124 "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" RELATED [] 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" RELATED [] synonym: "PPMS" EXACT [] synonym: "primary-progressive MS" EXACT [] synonym: "progressive remittent multiple sclerosis" EXACT [] xref: EFO:0003840 xref: EFO:0008520 xref: MESH:D020528 xref: MONDO:0000451 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)" [PMID: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", PMID:19175065 "DO"] synonym: "IGDS" EXACT [] synonym: "iridogoniodysgenesis" EXACT [] xref: GARD:3026 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 DISORDER" BROAD [] 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)" [https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1 "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: MONDO:0008511 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", PMID: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", PMID: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", MIM:261550 "DO", ORDO:2856 "DO", PMID: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)" [https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/ "DO", MIM:600195 "DO", PMID: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", MIM:609620 "DO", ORDO: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://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO"] synonym: "retinal cone dystrophy" EXACT [] xref: GARD:11897 xref: MESH:D000077765 xref: MONDO:0000455 is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050796 name: achalasia microcephaly syndrome 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)" [https://en.wikipedia.org/wiki/Achalasia_microcephaly "DO"] synonym: "achalasia microcephaly" EXACT [] xref: GARD:456 xref: MESH:C536010 xref: MIM:200450 xref: MONDO:0008699 xref: ORDO:929 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", ORDO:2971 "DO", PMID:11815777 "DO", PMID:17458872 "DO", PMID: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)" [MIM:300352 "DO", PMID:17603797 "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 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" BROAD [] xref: GARD:2578 xref: MESH:C537622 xref: MIM:612736 xref: MONDO:0012999 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 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)" [MIM:300352 "DO", PMID:17603797 "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" BROAD [] synonym: "SLC6A8-related condition" BROAD [] 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: MIM:300352 xref: MONDO:0010305 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" BROAD [] synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [] synonym: "progeroid variant of Ehlers-Danlos syndrome" BROAD [] xref: MIM:615349 xref: MONDO:0014139 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", PMID:20129251 "DO", PMID: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", PMID:20129251 "DO", PMID: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", PMID:20129251 "DO", PMID: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", PMID:20129251 "DO", PMID: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)" [MIM:612713 "DO", ORDO: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://www.genome.jp/dbget-bin/www_bget?ds\:H00216 "DO", MIM:201710 "DO", ORDO:418 "DO"] synonym: "adrenal hypoplasia congenita" EXACT [] synonym: "congenital adrenal hyperplasias" EXACT [] xref: GARD:1467 xref: ICD10CM:E25 xref: ICD9CM:255.2 xref: MESH:D000312 xref: MONDO:0018479 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)" [MIM:612847 "DO", ORDO: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 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 DISORDER" 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" RELATED [] 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, CHST3-related" EXACT [] synonym: "spondyloepiphyseal dysplasia, Omani type" EXACT [] xref: MESH:C535789 xref: MIM:143095 xref: MONDO:0007738 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.sciencedirect.com/science/article/pii/S1769721213002449 "DO", ORDO:363417 "DO", PMID:21129728 "DO"] synonym: "CHSY1-RELATED CONDITION" EXACT [] 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", MIM:236730 "DO", ORDO: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: MONDO:0019353 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)" [https://www.orpha.net/data/patho/GB/uk-TCII.pdf "DO", MIM:275350 "DO"] synonym: "TC II deficiency" EXACT [] synonym: "TCN2 deficiency" EXACT [] xref: MIM:275350 xref: MONDO:0010149 xref: NCI:C142806 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: MONDO:0000466 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"] synonym: "arterial disease" EXACT [] synonym: "arterial disorder" EXACT [] xref: MIM:108000 xref: MONDO:0000473 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: MONDO:0000474 is_a: DOID:0060118 ! thoracic disease 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 [] synonym: "SERPINI1-RELATED DISORDER" EXACT [] xref: GARD:10037 xref: MESH:C536841 xref: NCI:C214861 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", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract "DO", ORDO:138 "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: MONDO:0000476 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: MONDO:0000478 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: MONDO:0005296 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", PMID: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)" [PMID:11687797 "DO", PMID: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", PMID:23541340 "DO"] xref: GARD:2542 xref: MIM:PS233400 xref: MONDO:0017312 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 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"] synonym: "MRSHSS" EXACT [] synonym: "NFIX-RELATED CONDITION" BROAD [] xref: GARD:6985 xref: MESH:C536026 xref: MIM:602535 xref: MONDO:0011244 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"] xref: MONDO:0000496 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: MONDO:0005484 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: MONDO:0005008 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)" [PMID: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)" [PMID: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 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: "BCL2 Apoptosis regulator" EXACT [] synonym: "Brill Symmers Disease" EXACT [] synonym: "Cutaneous Follicular Lymphoma" NARROW [] synonym: "FL1" NARROW [] synonym: "Follicular Large Cell Lymphoma" EXACT [] synonym: "follicular large-cell lymphomas" EXACT [] synonym: "follicular lymphoma, grade 1" NARROW [] synonym: "follicular lymphoma, grade 2" NARROW [] synonym: "follicular lymphoma, grade 3" NARROW [] synonym: "Follicular Lymphomas" EXACT [] synonym: "follicular lymphoma, somatic" NARROW [] 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: MIM:613024 xref: MONDO:0018906 xref: NCI:C3209 xref: NCI:C3465 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: DOID:9003314 alt_id: DOID:9009230 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" NARROW [] synonym: "PDX1-RELATED DISORDER" BROAD [] xref: GARD:4203 xref: MESH:C564908 xref: MIM:PS260370 xref: MONDO:0009832 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", MIM:300623 "DO", ORDO:93256 "DO", PMID: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://www.17q21.com/en/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK24676/ "DO", MIM:610443 "DO", ORDO:96169 "DO", PMID:19447831 "DO", PMID:22544363 "DO", PMID: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)" [MIM:167320 "DO", PMID:19380227 "DO", PMID:21304887 "DO", PMID: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 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)" [ORDO:98766 "DO", PMID:20368622 "DO"] synonym: "SCA5" EXACT [] synonym: "spinocerebellar ataxia type 5" EXACT [] synonym: "SPTBN2-related condition" BROAD [] xref: GARD:4953 xref: MIM:600224 xref: MONDO:0010848 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://www.uniprot.org/diseases/DI-03409 "DO", MIM:614559 "DO", ORDO:313850 "DO", PMID:22405087 "DO", PMID:23438437 "DO"] synonym: "ACO2-RELATED CONDITION" BROAD [] synonym: "ACO2-RELATED DISORDER" BROAD [] synonym: "ACO2-RELATED DISORDERS" 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://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport "DO", MIM:615512 "DO", ORDO:868 "DO", PMID:16980388 "DO", PMID:17424909 "DO", PMID: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)" [MIM:614732 "DO", ORDO:85173 "DO", PMID:14760276 "DO", PMID:22634751 "DO", PMID:23719190 "DO", PMID: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://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", MIM:275900 "DO", PMID: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 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", PMID: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:107480 xref: MIM:PS107480 xref: MONDO:0007142 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 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: "ELP1-related condition" BROAD [] synonym: "GPR161-RELATED DISORDER" RELATED [] synonym: "infratentorial primitive neuroectodermal tumor" EXACT [] synonym: "localized primitive neuroectodermal tumor" EXACT [] synonym: "MBEN" NARROW [] synonym: "MDB" EXACT [] synonym: "medulloblastoma, histologically defined" NARROW [] synonym: "medulloblastoma predisposition syndrome" EXACT [] synonym: "medulloblastomas" EXACT [] synonym: "medulloblastoma, somatic" NARROW [] synonym: "medulloblastoma with extensive nodularity" NARROW [] synonym: "melanocytic medulloblastoma" EXACT [] synonym: "PTCH2-related condition" BROAD [] xref: EFO:0002939 xref: GARD:7005 xref: ICDO:9470/3 xref: MESH:D008527 xref: MIM:155255 xref: MONDO:0007959 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", PMID: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 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: "ACSL6-RELATED CONDITION" BROAD [] 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: "SF3B1-RELATED CONDITION" EXACT [] synonym: "TET2-RELATED CONDITION" BROAD [] xref: EFO:0000198 xref: GARD:7132 xref: ICDO:9989/3 xref: MESH:D009190 xref: MIM:614286 xref: MONDO:0018881 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 xref: MONDO:0000525 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"] 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"] is_a: DOID:0050860 ! colorectal 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"] synonym: "tonsillar squamous cell carcinoma" EXACT [] xref: EFO:1000597 xref: MONDO:0006470 xref: NCI:C8183 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: MONDO:0000536 xref: NCI:C102872 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"] synonym: "digestive system carcinoma" EXACT [] xref: EFO:1000218 xref: MONDO:0006181 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", PMID:19417583 "DO", PMID:2050369 "DO"] synonym: "SETTLE tumor" EXACT [] synonym: "SETTLE tumour" EXACT [] synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT [] xref: EFO:1000593 xref: MONDO:0006466 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"] xref: MONDO:0000539 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", PMID: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: MONDO:0005616 xref: NCI:C45544 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"] synonym: "serous carcinoma of ovary" EXACT [] 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", PMID:15390353 "DO", PMID: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)" [PMID: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)" [PMID: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)" [PMID:22448145 "DO"] synonym: "ARSAL" EXACT [] synonym: "AUTOSOMAL RECESSIVE SPASTIC ATAXIA" EXACT [] synonym: "Autosomal Recessive Spastic Ataxia With Leukoencephalopathy" EXACT [] synonym: "MARS2-RELATED CONDITION" BROAD [] 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)" [PMID:20970105 "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)" [PMID:22022284 "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)" [PMID:6821680 "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 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)" [MIM:270550 "DO", PMID:24384335 "DO", PMID:26344561 "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: MIM:270550 xref: MONDO:0010041 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 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", PMID: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 xref: MIM:193100 xref: MONDO:0008660 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: "DMP1-RELATED CONDITION" EXACT [] 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"] synonym: "hereditary ataxias" EXACT [] 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)" [PMID:24384335 "DO", PMID:26344561 "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 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: "ATXN1-RELATED CONDITION" EXACT [] 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 type 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 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, Cuban type" EXACT [] synonym: "spinocerebellar ataxia type 2" 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: MONDO:0008458 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 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 type 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 4 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. (DO)" [https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 "DO", PMID:38035881 "DO"] synonym: "SCA4" EXACT [] synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" EXACT [] synonym: "spinocerebellar ataxia type 4" 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 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: "ATXN7-related condition" BROAD [] 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 type 7" EXACT [] xref: MIM:164500 xref: MONDO:0008120 xref: NCI:C126562 xref: ORDO:94147 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 8 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 type 8" EXACT [] xref: MESH:C537307 xref: MIM:608768 xref: MONDO:0012116 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050960 name: spinocerebellar ataxia 10 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: "ATXN10-RELATED DISORDER" EXACT [] synonym: "SCA10" EXACT [] synonym: "spinocerebellar ataxia type 10" EXACT [] xref: GARD:10474 xref: MESH:C566874 xref: MIM:603516 xref: MONDO:0011330 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050961 name: spinocerebellar ataxia 11 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 type 11" EXACT [] synonym: "TTBK2-related condition" EXACT [] xref: MESH:C565772 xref: MIM:604432 xref: MONDO:0011464 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050962 name: spinocerebellar ataxia 12 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 condition" EXACT [] synonym: "PPP2R2B-related disorder" EXACT [] synonym: "SCA12" EXACT [] synonym: "spinocerebellar ataxia type 12" EXACT [] xref: MESH:C565790 xref: MIM:604326 xref: MONDO:0011439 xref: NCI:C154316 xref: ORDO:98762 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050963 name: spinocerebellar ataxia 13 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: "KCNC3-related condition" EXACT [] synonym: "SCA13" EXACT [] synonym: "spinocerebellar ataxia type 13" EXACT [] xref: MESH:C537195 xref: MIM:605259 xref: MONDO:0011529 xref: NCI:C214865 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050964 name: spinocerebellar ataxia 14 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: "PRKCG-related condition" EXACT [] synonym: "SCA14" EXACT [] synonym: "spinocerebellar ataxia type 14" EXACT [] xref: MESH:C537196 xref: MIM:605361 xref: MONDO:0011540 xref: NCI:C214866 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050965 name: spinocerebellar ataxia 15 alt_id: DOID:0050966 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 16" EXACT [] synonym: "spinocerebellar ataxia type 15" EXACT [] synonym: "spinocerebellar ataxia type 15/16" EXACT [] synonym: "spinocerebellar ataxia type 16" EXACT [] xref: MESH:C564685 xref: MIM:606658 xref: MONDO:0011694 xref: NCI:C150250 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050967 name: spinocerebellar ataxia 17 alt_id: DOID:9001531 alt_id: DOID:9002725 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 type 17" EXACT [] xref: GARD:10469 xref: MESH:C563505 xref: MESH:C564616 xref: MESH:C565866 xref: MIM:607136 xref: MONDO:0011781 xref: NCI:C179861 xref: ORDO:98759 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 [] synonym: "DNMT1-RELATED DISORDER" BROAD [] 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 18 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 type 18" EXACT [] xref: GARD:9976 xref: MESH:C537197 xref: MIM:607458 xref: MONDO:0011834 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050970 name: spinocerebellar ataxia 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: "KCND3-RELATED DISORDER" BROAD [] synonym: "SCA19" EXACT [] synonym: "SCA22" EXACT [] synonym: "spinocerebellar ataxia 19" EXACT [] synonym: "spinocerebellar ataxia 22" EXACT [] synonym: "spinocerebellar ataxia type 19/22" 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 20 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 type 20" EXACT [] synonym: "Spinocerebellar Ataxia With Dysphonia" EXACT [] synonym: "Spinocerebellar Ataxia With Spasmodic Cough" EXACT [] xref: GARD:9997 xref: MESH:C537199 xref: MIM:608687 xref: MONDO:0012098 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050972 name: spinocerebellar ataxia 21 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 type 21" EXACT [] synonym: "TMEM240-RELATED CONDITION" EXACT [] xref: GARD:9999 xref: MESH:C537200 xref: MIM:607454 xref: MONDO:0011833 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050973 name: spinocerebellar ataxia 23 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: "PDYN-RELATED CONDITION" EXACT [] synonym: "SCA23" EXACT [] synonym: "spinocerebellar ataxia type 23" EXACT [] xref: MESH:C537201 xref: MIM:610245 xref: MONDO:0012449 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050974 name: spinocerebellar ataxia 25 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 type 25" EXACT [] xref: GARD:9996 xref: MESH:C537202 xref: MIM:608703 xref: MONDO:0012103 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050975 name: spinocerebellar ataxia 26 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: "EEF2-related condition" BROAD [] synonym: "SCA26" EXACT [] synonym: "spinocerebellar ataxia type 26" EXACT [] xref: GARD:9995 xref: MESH:C537203 xref: MIM:609306 xref: MONDO:0012246 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050976 name: spinocerebellar ataxia 27A alt_id: DOID:0111794 alt_id: DOID:9006316 def: "An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus 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)" [PMID:32162847 "DO"] synonym: "autosomal dominant cerebellar ataxia, FGF14-related" EXACT [] synonym: "congenital nystagmus 4" EXACT [] synonym: "congenital nystagmus 4, autosomal dominant" EXACT [] synonym: "FGF14-related condition" BROAD [] synonym: "NYS4" EXACT [] synonym: "SCA27" BROAD [] synonym: "SCA27A" EXACT [] synonym: "spinocerebellar ataxia 27" BROAD [] synonym: "spinocerebellar ataxia type 27" EXACT [] synonym: "spinocerebellar ataxia type 27A" EXACT [] synonym: "vestibulocerebellar disorder with predominant ocular signs" EXACT [] xref: GARD:9603 xref: MESH:C537204 xref: MIM:193003 xref: MONDO:0008654 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0050977 name: spinocerebellar ataxia 28 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 type 28" EXACT [] xref: MESH:C537205 xref: MIM:610246 xref: MONDO:0012450 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050978 name: spinocerebellar ataxia 29 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, congenital nonprogressive" EXACT [] synonym: "spinocerebellar ataxia type 29" EXACT [] xref: MESH:C537206 xref: MIM:117360 xref: MONDO:0007298 xref: NCI:C214867 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050979 name: spinocerebellar ataxia 30 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)" [MIM:613371 "DO"] synonym: "SCA30" EXACT [] synonym: "spinocerebellar ataxia type 30" EXACT [] xref: GARD:4950 xref: MESH:C575214 xref: MIM:613371 xref: MONDO:0013241 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050980 name: spinocerebellar ataxia 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: "BEAN1-related condition" BROAD [] synonym: "SCA31" EXACT [] synonym: "spinocerebellar ataxia, 16q22-linked" EXACT [] synonym: "spinocerebellar ataxia type 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 34 alt_id: DOID:9005475 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 [] synonym: "spinocerebellar ataxia type 34" EXACT [] xref: MESH:C535738 xref: MIM:133190 xref: MONDO:0007574 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050982 name: spinocerebellar ataxia 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)" [MIM:613908 "DO"] synonym: "SCA35" EXACT [] synonym: "spinocerebellar ataxia type 35" EXACT [] synonym: "TGM6-RELATED CONDITION" EXACT [] xref: MIM:613908 xref: MONDO:0013485 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050983 name: spinocerebellar ataxia 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 type 36" EXACT [] xref: MIM:614153 xref: MONDO:0013594 xref: NCI:C148316 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050984 name: spinocerebellar ataxia 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)" [MIM:615945 "DO"] synonym: "DAB1-related condition" BROAD [] synonym: "SCA37" EXACT [] synonym: "spinocerebellar ataxia type 37" EXACT [] xref: MIM:615945 xref: MONDO:0014410 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 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)" [MIM:615957 "DO"] synonym: "ELOVL5-RELATED CONDITION" EXACT [] synonym: "SCA38" EXACT [] synonym: "spinocerebellar ataxia type 38" EXACT [] xref: EFO:0009056 xref: MIM:615957 xref: MONDO:0014417 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 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)" [MIM:616053 "DO"] synonym: "CCDC88C-RELATED CONDITION" BROAD [] synonym: "SCA40" EXACT [] synonym: "spinocerebellar ataxia type 40" EXACT [] xref: EFO:0009057 xref: MIM:616053 xref: MONDO:0014475 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)" [PMID: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"] synonym: "GRID2-RELATED CONDITION" BROAD [] 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)" [MIM: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 xref: NCI:C214852 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)" [MIM: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)" [MIM: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)" [MIM: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 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)" [MIM:613855 "DO"] synonym: "CACNB4-related condition" BROAD [] synonym: "EA5" EXACT [] xref: MESH:C566601 xref: MIM:613855 xref: MONDO:0013464 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)" [MIM:612656 "DO"] synonym: "EA6" EXACT [] synonym: "SLC1A3-RELATED CONDITION" 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)" [MIM: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)" [MIM:616055 "DO"] xref: MIM:616055 xref: MONDO:0014476 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: "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)" [PMID:21885617 "DO", PMID:28013290 "DO", PMID:33981800 "DO", PMID:38109455 "DO", PMID:38581205 "DO"] synonym: "autosomal recessive cerebellar ataxia with mental retardation" EXACT [] synonym: "autosomal recessive cerebellar hypoplasia with cerebral gyral simplification" EXACT [] synonym: "CAMRQ" EXACT [] synonym: "CAMRQ syndrome" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome" 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: "disequilibrium syndrome" RELATED [] synonym: "dysequilibrium syndrome" EXACT [] synonym: "nonprogressive cerebellar disorder with mental retardation" EXACT [] synonym: "Uner Tan syndrome" EXACT [] synonym: "UTS" 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)" [MIM:614756 "DO"] 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 xref: MONDO:0013886 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)" [MIM:613728 "DO"] synonym: "ANO10-related condition" BROAD [] synonym: "SCAR10" EXACT [] xref: MIM:613728 xref: MONDO:0013392 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0051000 name: autoinflammatory disease def: "A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. (DO)" [https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/ "DO"] is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9000972 ! Fever is_a: DOID:9005372 ! Inflammation created_by: mtutaj creation_date: 2024-11-27T18:10:52Z [Term] id: DOID:0051001 name: congenital dyserythropoietic anemia type IIIb alt_id: DOID:9002225 def: "A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. (DO)" [PMID:36200420 "DO"] synonym: "CDAN3B" EXACT [] synonym: "CDA type IIIb" EXACT [] synonym: "congenital dyserythropoietic anemia type IIIb, autosomal recessive" EXACT [] xref: MIM:619789 xref: MONDO:00030711 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1338 ! congenital dyserythropoietic anemia created_by: mtutaj creation_date: 2024-12-19T09:44:15Z [Term] id: DOID:0051002 name: congenital dyserythropoietic anemia type IVb def: "A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)" [PMID:25724378 "DO"] synonym: "CDAN4B" EXACT [] synonym: "CDA, type IVb" EXACT [] xref: MIM:620969 is_a: DOID:1338 ! congenital dyserythropoietic anemia created_by: mtutaj creation_date: 2024-12-19T09:48:22Z [Term] id: DOID:0051003 name: congenital nonspherocytic hemolytic anemia 1 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. (DO)" [PMID:18177777 "DO"] synonym: "CNSHA1" EXACT [] synonym: "congenital nonspherocytic hemolytic anemia-1" EXACT [] synonym: "G6PD-RELATED DISORDER" BROAD [] xref: MIM:300908 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2024-12-19T09:53:53Z [Term] id: DOID:0051004 name: congenital nonspherocytic hemolytic anemia 3 alt_id: DOID:9005319 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. (DO)" [PMID:10233365 "DO"] synonym: "ADENYLATE KINASE DEFICIENCY" EXACT [] synonym: "CNSHA3" EXACT [] synonym: "Hemolytic Anemia due to Adenylate Kinase Deficiency" EXACT [] xref: MESH:C567228 xref: MIM:612631 xref: MONDO:0012967 xref: ORDO:86817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2024-12-19T10:01:12Z [Term] id: DOID:0051005 name: congenital nonspherocytic hemolytic anemia 4 alt_id: DOID:9005912 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. (DO)" [PMID:8218542 "DO"] synonym: "CNSHA4" EXACT [] synonym: "DISORDER OF GLYCOLYSIS" EXACT [] synonym: "GPI-RELATED CONDITION" EXACT [] synonym: "HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY" NARROW [] synonym: "Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency" EXACT [] xref: MIM:613470 xref: MONDO:0013275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2024-12-19T10:04:18Z [Term] id: DOID:0051006 name: congenital nonspherocytic hemolytic anemia 5 alt_id: DOID:9006276 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. (DO)" [PMID:12393545 "DO"] synonym: "CNSHA5" EXACT [] synonym: "Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency" EXACT [] xref: MIM:235700 xref: MONDO:0009340 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2024-12-19T10:06:18Z [Term] id: DOID:0051007 name: congenital nonspherocytic hemolytic anemia 8 alt_id: DOID:9004820 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. (DO)" [PMID:11369620 "DO"] synonym: "CNSHA8" EXACT [] synonym: "hemolytic anemia due to P5N deficiency" EXACT [] synonym: "Hemolytic Anemia due to Pyrimidine 5-Prime Nucleotidase Deficiency" EXACT [] synonym: "Hemolytic Anemia due to UMPH1 Deficiency" EXACT [] synonym: "Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency" EXACT [] synonym: "P5N Deficiency" EXACT [] synonym: "UMPH1 deficiency" EXACT [] xref: MESH:C564859 xref: MIM:266120 xref: MONDO:0009946 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2024-12-19T10:08:01Z [Term] id: DOID:0051008 name: congenital nonspherocytic hemolytic anemia 9 alt_id: DOID:9001937 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. (DO)" [PMID:35030251 "DO"] synonym: "CNSHA9" EXACT [] synonym: "HAEADA" EXACT [] synonym: "Hemolytic Anemia due to Elevated Adenosine Deaminase" EXACT [] synonym: "Hemolytic Anemia due to Elevated Erythrocyte ADA" EXACT [] xref: MESH:C566314 xref: MIM:301083 xref: MONDO:0020458 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2024-12-19T10:09:53Z [Term] id: DOID:0051009 name: congenital nonspherocytic hemolytic anemia 10 alt_id: DOID:9007213 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. (DO)" [PMID:17185460 "DO"] synonym: "CNSHA10" EXACT [] synonym: "GSR-related condition" BROAD [] synonym: "Hemolytic Anemia due to Deficiency of Glutathione Reductase, in Red Cells" EXACT [] synonym: "Hemolytic Anemia due to Glutathione Reductase Deficiency" EXACT [] xref: MESH:C564218 xref: MIM:618660 xref: MONDO:0019531 xref: ORDO:90030 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2024-12-19T10:11:33Z [Term] id: DOID:0051010 name: Bryant-Li-Bhoj neurodevelopmental syndrome alt_id: DOID:9002771 def: "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK595206/ "DO"] xref: MIM:PS619720 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2024-12-19T10:48:52Z [Term] id: DOID:0051011 name: Bryant-Li-Bhoj neurodevelopmental syndrome 1 alt_id: DOID:9001391 def: "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK595206/ "DO", PMID:38678163 "DO"] synonym: "BRYLIB1" EXACT [] synonym: "H3-3A-RELATED CONDITION" BROAD [] synonym: "H3F3A-RELATED DISORDERS" BROAD [] xref: MIM:619720 is_a: DOID:0051010 ! Bryant-Li-Bhoj neurodevelopmental syndrome created_by: mtutaj creation_date: 2024-12-19T10:49:05Z [Term] id: DOID:0051012 name: Bryant-Li-Bhoj neurodevelopmental syndrome 2 alt_id: DOID:9000402 def: "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK595206/ "DO", PMID:38678163 "DO"] synonym: "BRYLIB2" EXACT [] synonym: "H3-3B-RELATED CONDITION" BROAD [] xref: MIM:619721 is_a: DOID:0051010 ! Bryant-Li-Bhoj neurodevelopmental syndrome created_by: mtutaj creation_date: 2024-12-19T10:49:17Z [Term] id: DOID:0051013 name: pseudohypoparathyroidism type 1C alt_id: DOID:9000882 def: "A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. (DO)" [PMID:18372789 "DO"] synonym: "PHP1C" EXACT [] synonym: "PHP IC" EXACT [] synonym: "Pseudohypoparathyroidism Type IC" EXACT [] xref: GARD:10681 xref: MESH:C548076 xref: MIM:612462 xref: MONDO:0012911 xref: ORDO:79444 is_a: DOID:4184 ! pseudohypoparathyroidism created_by: mtutaj creation_date: 2024-12-19T10:54:30Z [Term] id: DOID:0051014 name: atypical autosomal dominant adult-onset demyelinating leukodystrophy alt_id: DOID:9009281 def: "An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. (DO)" [PMID:39078102 "DO"] synonym: "ADLDAT" EXACT [] xref: MIM:621061 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0051015 ! adult onset demyelinating leukodystrophy created_by: mtutaj creation_date: 2025-01-31T17:10:08Z [Term] id: DOID:0051015 name: adult onset demyelinating leukodystrophy def: "A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. (DO)" [https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/ "DO"] synonym: "autosomal dominant adult-onset demyelinating leukodystrophy" EXACT [] synonym: "autosomal dominant leukodystrophy with autonomic disease" EXACT [] xref: MIM:PS169500 xref: ORDO:99027 is_a: DOID:10579 ! leukodystrophy created_by: mtutaj creation_date: 2025-01-31T17:13:16Z [Term] id: DOID:0051016 name: visceral heterotaxy 1 alt_id: DOID:9003587 def: "A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. (DO)" [PMID:18456715 "DO"] synonym: "CHTD1" NARROW [] synonym: "congenital heart defects, multiple types, 1, X-Linked" EXACT [] synonym: "dextrocardia with other cardiac malformations" EXACT [] synonym: "Heterotaxy, Visceral, 1, X-Linked" EXACT [] synonym: "Heterotaxy, Visceral, X-Linked" EXACT [] synonym: "HTX1" EXACT [] synonym: "laterality, X-linked" EXACT [] synonym: "situs inversus, complex cardiac defects, and splenic defects, X-linked" EXACT [] synonym: "visceral heterotaxia" BROAD [] xref: EFO:0009136 xref: MESH:C538116 xref: MIM:306955 xref: MONDO:0010607 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9006385 ! Congenital Heart Defects, X-Linked is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types is_a: DOID:9565 ! dextrocardia created_by: mtutaj creation_date: 2025-01-31T17:17:35Z [Term] id: DOID:0051017 name: visceral heterotaxy 2 alt_id: DOID:9002143 def: "A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. (DO)" [PMID:11062482 "DO"] synonym: "HTX2" EXACT [] synonym: "Visceral Heterotaxy 2, Autosomal" EXACT [] xref: MIM:605376 xref: MONDO:0011546 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2025-01-31T17:21:45Z [Term] id: DOID:0051018 name: visceral heterotaxy 3 alt_id: DOID:9004505 def: "A visceral heterotaxy that has been mapped to chromosome 6q21. (DO)" [PMID:11562933 "DO"] synonym: "HTX3" EXACT [] synonym: "Visceral Heterotaxy 3, Autosomal" EXACT [] xref: MESH:C565237 xref: MIM:606325 xref: MONDO:0011659 is_a: DOID:0050545 ! visceral heterotaxy created_by: mtutaj creation_date: 2025-01-31T17:27:15Z [Term] id: DOID:0051019 name: visceral heterotaxy 4 alt_id: DOID:9008496 def: "A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. (DO)" [PMID:9916847 "DO"] synonym: "ACVR2B-related condition" BROAD [] synonym: "HTX4" EXACT [] synonym: "Visceral Heterotaxy 4, Autosomal" EXACT [] xref: MIM:613751 xref: MONDO:0013403 is_a: DOID:0050545 ! visceral heterotaxy created_by: mtutaj creation_date: 2025-01-31T17:27:26Z [Term] id: DOID:0051020 name: visceral heterotaxy 6 alt_id: DOID:9003212 def: "A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. (DO)" [PMID:22577226 "DO"] synonym: "CFAP53-related condition" BROAD [] synonym: "HTX6" EXACT [] synonym: "Visceral Heterotaxy 6, Autosomal" EXACT [] xref: MIM:614779 xref: MONDO:0013887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:27:45Z [Term] id: DOID:0051021 name: visceral heterotaxy 7 alt_id: DOID:9008364 def: "A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. (DO)" [PMID:26437028 "DO"] synonym: "HTX7" EXACT [] synonym: "MMP21-related condition" BROAD [] synonym: "Visceral Heterotaxy 7, Autosomal" EXACT [] xref: MIM:616749 xref: MONDO:0014762 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:27:58Z [Term] id: DOID:0051022 name: visceral heterotaxy 8 alt_id: DOID:9007421 def: "A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. (DO)" [PMID:27616478 "DO"] synonym: "HTX8" EXACT [] synonym: "PKD1L1-related condition" BROAD [] synonym: "Visceral Heterotaxy 8, Autosomal" EXACT [] xref: MIM:617205 xref: MONDO:0014967 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:28:10Z [Term] id: DOID:0051023 name: visceral heterotaxy 9 alt_id: DOID:9003544 def: "A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. (DO)" [PMID:31534215 "DO"] synonym: "autosomal visceral heterotaxy-9 with male infertility" EXACT [] synonym: "HTX9" EXACT [] synonym: "MNS1-related condition" BROAD [] synonym: "Visceral Heterotaxy 9, Autosomal" EXACT [] xref: MIM:618948 xref: MONDO:0030070 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12336 ! male infertility is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:28:24Z [Term] id: DOID:0051024 name: visceral heterotaxy 10 alt_id: DOID:9008028 def: "A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. (DO)" [PMID:33139725 "DO"] synonym: "autosomal visceral heterotaxy 10 with male infertility" EXACT [] synonym: "CFAP52-related condition" BROAD [] synonym: "HTX10" EXACT [] synonym: "Visceral Heterotaxy 10, Autosomal" EXACT [] xref: MIM:619607 xref: MONDO:0030474 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12336 ! male infertility is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:40:20Z [Term] id: DOID:0051025 name: visceral heterotaxy 11 alt_id: DOID:9002158 def: "A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. (DO)" [PMID:33139725 "DO"] synonym: "autosomal visceral heterotaxy 11 with male infertility" EXACT [] synonym: "HTX11" EXACT [] synonym: "Visceral Heterotaxy 11, Autosomal" EXACT [] xref: MIM:619608 xref: MONDO:0030475 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12336 ! male infertility is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:40:30Z [Term] id: DOID:0051026 name: visceral heterotaxy 12 alt_id: DOID:9004727 def: "A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. (DO)" [PMID:33139725 "DO"] synonym: "CIROP-related condition" BROAD [] synonym: "HTX12" EXACT [] synonym: "Visceral Heterotaxy 12, Autosomal" EXACT [] xref: MIM:619702 xref: MONDO:0859222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:40:41Z [Term] id: DOID:0051027 name: visceral heterotaxy 13 alt_id: DOID:9009284 def: "A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. (DO)" [PMID:36316122 "DO"] synonym: "HTX13" EXACT [] synonym: "Visceral Heterotaxy 13, Autosomal" EXACT [] xref: MIM:621079 xref: MONDO:0976134 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-01-31T17:40:54Z [Term] id: DOID:0051028 name: autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis alt_id: DOID:9003332 def: "A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (DO)" [PMID:15358725 "DO"] synonym: "Charcot-Marie-Tooth Disease Type 4A, Axonal Form" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive" EXACT [] synonym: "Charcot-Marie-Tooth with vocal cord paresis" EXACT [] synonym: "CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT [] synonym: "NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C539595 xref: MIM:607706 xref: MONDO:0011898 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000586 ! Vocal Cord Paralysis created_by: mtutaj creation_date: 2025-01-31T17:46:41Z [Term] id: DOID:0051029 name: mitochondrial DNA depletion syndrome-21 alt_id: DOID:9009283 def: "A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. (DO)" [PMID:39230499 "DO"] synonym: "MTDPS21" EXACT [] xref: MIM:621071 is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2025-01-31T17:48:57Z [Term] id: DOID:0051030 name: neurodevelopmental disorder with microcephaly, absent speech, and hypotonia alt_id: DOID:9009282 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. (DO)" [PMID:39306721 "DO"] synonym: "NEDMISH" EXACT [] xref: MIM:621060 xref: MONDO:0976126 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder created_by: mtutaj creation_date: 2025-01-31T17:51:36Z [Term] id: DOID:0051031 name: primary autosomal recessive microcephaly 20 alt_id: DOID:9009149 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. (DO)" [PMID:29343805 "DO"] synonym: "KIF14-related condition" BROAD [] synonym: "MCPH20" EXACT [] xref: MIM:617914 xref: MONDO:0054761 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:54:19Z [Term] id: DOID:0051032 name: primary autosomal recessive microcephaly 21 alt_id: DOID:9009171 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. (DO)" [PMID:35568357 "DO"] synonym: "MCPH21" EXACT [] synonym: "NCAPD2-related condition" BROAD [] xref: MIM:617983 xref: MONDO:0054804 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:57:01Z [Term] id: DOID:0051033 name: primary autosomal recessive microcephaly 22 alt_id: DOID:9009172 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. (DO)" [PMID:27737959 "DO"] synonym: "MCPH22" EXACT [] synonym: "NCAPD3-related condition" BROAD [] xref: MIM:617984 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:57:13Z [Term] id: DOID:0051034 name: primary autosomal recessive microcephaly 23 alt_id: DOID:9002582 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. (DO)" [PMID:27737959 "DO"] synonym: "MCPH23" EXACT [] synonym: "NCAPH-related condition" BROAD [] xref: MIM:617985 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:57:27Z [Term] id: DOID:0051035 name: primary autosomal recessive microcephaly 24 alt_id: DOID:9009243 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. (DO)" [PMID:30179222 "DO"] synonym: "MCPH24" EXACT [] synonym: "NUP37-related condition" BROAD [] xref: MIM:618179 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:57:40Z [Term] id: DOID:0051036 name: primary autosomal recessive microcephaly 25 alt_id: DOID:9003084 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. (DO)" [PMID:30715179 "DO"] synonym: "MCPH25" EXACT [] synonym: "TRAPPC14-related condition" BROAD [] xref: MIM:618351 xref: MONDO:0032694 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:57:52Z [Term] id: DOID:0051037 name: autosomal dominant primary microcephaly 26 alt_id: DOID:9006542 def: "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. (DO)" [PMID:32910914 "DO"] synonym: "LMNB1-related condition" BROAD [] synonym: "LMNB1-RELATED PRIMARY MICROCEPHALY" EXACT [] synonym: "MCPH26" EXACT [] synonym: "MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT" EXACT [] synonym: "primary autosomal dominant microcephaly 26" EXACT [] xref: MIM:619179 xref: MONDO:0030928 is_a: DOID:0061100 ! autosomal dominant primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:58:03Z [Term] id: DOID:0051038 name: autosomal dominant primary microcephaly 27 alt_id: DOID:9002951 def: "A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. (DO)" [PMID:33033404 "DO"] synonym: "MCPH27" EXACT [] xref: MIM:619180 xref: MONDO:0030929 is_a: DOID:0061100 ! autosomal dominant primary microcephaly created_by: mtutaj creation_date: 2025-01-31T17:58:15Z [Term] id: DOID:0051039 name: primary autosomal recessive microcephaly 28 alt_id: DOID:9007625 def: "A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. (DO)" [PMID:33199730 "DO"] synonym: "MCPH28" EXACT [] xref: MIM:619453 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T18:19:53Z [Term] id: DOID:0051040 name: primary autosomal recessive microcephaly 29 alt_id: DOID:9003562 def: "A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. (DO)" [PMID:32286682 "DO"] synonym: "MCPH29" EXACT [] xref: MIM:620047 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T18:20:11Z [Term] id: DOID:0051041 name: primary autosomal recessive microcephaly 30 alt_id: DOID:9001690 def: "A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. (DO)" [PMID:35044816 "DO"] synonym: "BUB1-RELATED CONDITION" BROAD [] synonym: "MCPH30" EXACT [] xref: MIM:620183 xref: MONDO:0859342 is_a: DOID:0070296 ! autosomal recessive primary microcephaly created_by: mtutaj creation_date: 2025-01-31T18:20:23Z [Term] id: DOID:0051042 name: autosomal dominant distal hereditary motor neuronopathy 15 alt_id: DOID:9009289 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)" [PMID:37907725 "DO"] synonym: "HMND15" EXACT [] synonym: "NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15" EXACT [] xref: MIM:621094 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2025-03-03T16:31:43Z [Term] id: DOID:0051043 name: Charcot-Marie-Tooth disease axonal type 2JJ alt_id: DOID:9009288 def: "A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)" [PMID:31853710 "DO"] synonym: "Charcot-Marie-Tooth neuropathy, type 2JJ" EXACT [] synonym: "CMT2JJ" EXACT [] xref: MIM:621095 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2025-03-03T16:34:02Z [Term] id: DOID:0051044 name: infantile-onset myofibrillar myopathy 12 with cardiomyopathy alt_id: DOID:9003320 def: "A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (DO)" [PMID:23365102 "DO"] synonym: "MFM12" EXACT [] synonym: "Myofibrillar Myopathy 12" EXACT [] xref: MIM:619424 xref: MONDO:0859168 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2025-03-03T16:36:06Z [Term] id: DOID:0051045 name: myofibrillar myopathy 13 with rimmed vacuoles alt_id: DOID:9009287 def: "A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. (DO)" [PMID:31403083 "DO"] synonym: "MFM13" EXACT [] synonym: "myofibrillar myopathy 13" EXACT [] synonym: "rimmed vacuolar myopathy" EXACT [] xref: MIM:621078 xref: MONDO:0976133 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2025-03-03T16:40:46Z [Term] id: DOID:0051046 name: spondyloepimetaphyseal dysplasia, Li-Shao-Li type alt_id: DOID:9009290 def: "A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. (DO)" [PMID:39414788 "DO"] synonym: "SEMDLSL" EXACT [] xref: MIM:621099 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: mtutaj creation_date: 2025-03-03T16:42:45Z [Term] id: DOID:0051047 name: congenital disorder of glycosylation type IIbb alt_id: DOID:9006729 def: "A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. (DO)" [PMID:37711075 "DO"] synonym: "CDG2BB" EXACT [] synonym: "CDG IIbb" EXACT [] synonym: "CDGIIBB" EXACT [] xref: MIM:620546 xref: MONDO:0957820 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-03-03T16:44:10Z [Term] id: DOID:0051048 name: congenital disorder of glycosylation type IIr alt_id: DOID:9000744 def: "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. (DO)" [PMID:29127204 "DO"] synonym: "CDG2R" EXACT [] synonym: "CDG IIr" EXACT [] synonym: "CDGIIR" EXACT [] xref: MIM:301045 xref: MONDO:0026765 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2025-03-03T16:46:12Z [Term] id: DOID:0051049 name: congenital disorder of glycosylation type IIt alt_id: DOID:9000346 def: "A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. (DO)" [PMID:32293671 "DO"] synonym: "CDG2T" EXACT [] synonym: "CDG IIt" EXACT [] synonym: "CDGIIt" EXACT [] synonym: "GALNT2-related condition" BROAD [] xref: MIM:618885 xref: MONDO:0030043 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-03-03T16:48:15Z [Term] id: DOID:0051050 name: congenital disorder of glycosylation type IIv alt_id: DOID:9005531 def: "A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (DO)" [PMID:34143952 "DO"] synonym: "CDG2V" EXACT [] synonym: "congenital disorder of glycosylation, type 2V" EXACT [] synonym: "EDEM3-RELATED DISORDER" EXACT [] xref: MIM:619493 xref: MONDO:0030423 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-03-03T16:50:01Z [Term] id: DOID:0051051 name: congenital disorder of glycosylation type IIw alt_id: DOID:9002132 def: "A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)" [PMID:33964207 "DO"] synonym: "CDG2W" EXACT [] xref: MIM:619525 xref: MONDO:0030437 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2025-03-03T16:51:59Z [Term] id: DOID:0051052 name: congenital disorder of glycosylation type IIy alt_id: DOID:9007056 def: "A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. (DO)" [PMID:32395830 "DO"] synonym: "CDG2Y" EXACT [] synonym: "CDG IIy" EXACT [] synonym: "CDGIIY" EXACT [] xref: MIM:620200 xref: MONDO:0859356 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-03-03T16:54:03Z [Term] id: DOID:0051053 name: congenital disorder of glycosylation type IIz alt_id: DOID:9004511 def: "A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. (DO)" [PMID:35262690 "DO"] synonym: "CDG2Z" EXACT [] synonym: "CDG IIz" EXACT [] synonym: "CDGIIZ" EXACT [] xref: MIM:620201 xref: MONDO:0859357 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-03-03T16:55:37Z [Term] id: DOID:0051054 name: coarctation of the aorta alt_id: DOID:9007908 def: "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure. (DO)" [https://medlineplus.gov/ency/article/000191.htm "DO", https://www.annalsthoracicsurgery.org/article/S0003-4975(24)00077-8/fulltext "DO", https://www.mayoclinic.org/diseases-conditions/coarctation-of-the-aorta/symptoms-causes/syc-20352529 "DO", https://www.ncbi.nlm.nih.gov/books/NBK430913/ "DO", https://www.nyp.org/pediatrics/heart/coarctation-of-aorta "DO", PMID:38416090 "DO"] synonym: "Aorta Coarctation" EXACT [] synonym: "Aorta Dominant Coarctation" EXACT [] synonym: "Aortic Coarctation" EXACT [] synonym: "Aortic Coarctations" EXACT [] synonym: "Coarctation of Aorta" EXACT [] synonym: "Coarctation of Aorta Dominant" EXACT [] synonym: "Coarctation of the Aorta" EXACT [] synonym: "MIDAORTIC SYNDROME" RELATED [] xref: EFO:1001267 xref: MESH:D001017 xref: MIM:120000 xref: MONDO:0007345 xref: NCI:C84567 is_a: DOID:1682 ! congenital heart disease created_by: mtutaj creation_date: 2025-08-04T09:25:24Z [Term] id: DOID:0051055 name: 46,XY gonadal dysgenesis with minifascicular neuropathy alt_id: DOID:9006824 def: "A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). (DO)" [PMID:10483790 "DO"] synonym: "46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy" EXACT [] synonym: "DHH-RELATED DISORDER" BROAD [] synonym: "GDMN" EXACT [] xref: MESH:C567773 xref: MIM:607080 xref: MONDO:0011766 is_a: DOID:1389 ! polyneuropathy is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis created_by: mtutaj creation_date: 2025-03-03T16:57:09Z [Term] id: DOID:0051056 name: immunodeficiency 113 def: "A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. (DO)" [PMID:37349293 "DO"] xref: MIM:620565 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-08-31T18:01:22Z [Term] id: DOID:0051057 name: avoidant/restrictive food intake disorder def: "An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. (DO)" [https://acamh.onlinelibrary.wiley.com/doi/10.1111/jcpp.70029 "DO", PMID:40568462 "DO", PMID:40690322 "DO", PMID:40791012 "DO"] synonym: "ARFID" EXACT [] is_a: DOID:8670 ! eating disorder created_by: mtutaj creation_date: 2025-08-31T18:03:17Z [Term] id: DOID:0051058 name: acute calcific periarthritis def: "A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. (DO)" [https://radiopaedia.org/articles/acute-calcific-periarthritis?lang=us "DO"] is_a: DOID:2964 ! periarthritis created_by: mtutaj creation_date: 2025-09-30T13:54:43Z [Term] id: DOID:0051059 name: autosomal recessive Segawa syndrome alt_id: DOID:9004035 def: "A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. (DO)" [PMID:22815559 "DO", PMID:36568392 "DO"] synonym: "autosomal recessive DOPA-responsive dystonia" EXACT [] synonym: "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive" EXACT [] synonym: "infantile parkinsonism, autosomal recessive" EXACT [] synonym: "Segawa Syndrome, Autosomal Recessive" EXACT [] synonym: "TH-deficient dopa-responsive dystonia" EXACT [] synonym: "TH-deficient DRD" EXACT [] synonym: "tyrosine hydroxylase deficiency" EXACT [] xref: MESH:C537537 xref: MIM:605407 xref: MONDO:0011551 xref: NCI:C157158 xref: ORDO:101150 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2025-11-03T07:47:12Z [Term] id: DOID:0051060 name: frontotemporal dementia 1 def: "A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1505/ "DO"] synonym: "FTD1" EXACT [] xref: MIM:600274 is_a: DOID:9255 ! frontotemporal dementia created_by: mtutaj creation_date: 2025-11-03T07:51:02Z [Term] id: DOID:0051061 name: stroke alt_id: DOID:9007096 def: "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen. (DO)" [https://medlineplus.gov/stroke.html "DO", https://www.nhlbi.nih.gov/health/stroke "DO"] synonym: "Acute Cerebrovascular Accident" EXACT [] synonym: "acute cerebrovascular accidents" EXACT [] synonym: "Acute Stroke" EXACT [] synonym: "Acute Strokes" EXACT [] synonym: "Apoplexy" EXACT [] synonym: "Brain Vascular Accident" EXACT [] synonym: "Brain Vascular Accidents" EXACT [] synonym: "Cerebral Stroke" EXACT [] synonym: "Cerebral Strokes" EXACT [] synonym: "cerebrovascular accident" EXACT [] synonym: "Cerebrovascular Accidents" EXACT [] synonym: "Cerebrovascular Apoplexy" EXACT [] synonym: "Cerebrovascular Stroke" EXACT [] synonym: "cerebrovascular strokes" EXACT [] synonym: "CVA" EXACT [] synonym: "post-operative stroke" NARROW [] synonym: "small vessel stroke" NARROW [] synonym: "STRK1" EXACT [] synonym: "strokes" EXACT [] synonym: "stroke, susceptibility to, 1" RELATED [] xref: EFO:0000712 xref: EFO:0009956 xref: EFO:1001504 xref: MESH:D020521 xref: MIM:606799 is_a: DOID:6713 ! cerebrovascular disease created_by: mtutaj creation_date: 2025-11-25T16:27:46Z [Term] id: DOID:0051062 name: ischemic stroke def: "A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain. (DO)" [https://www.nhlbi.nih.gov/health/stroke "DO"] is_a: DOID:0051061 ! stroke created_by: mtutaj creation_date: 2025-11-25T16:31:33Z [Term] id: DOID:0051063 name: hemorrhagic stroke alt_id: DOID:9000627 def: "A stroke that is characterized by sudden bleeding in the brain. (DO)" [https://www.nhlbi.nih.gov/health/stroke "DO"] synonym: "hemorrhagic cerebrovascular accident" EXACT [] xref: EFO:0020921 is_a: DOID:0051061 ! stroke created_by: mtutaj creation_date: 2025-11-25T16:33:13Z [Term] id: DOID:0051064 name: left ventricular failure alt_id: DOID:9001747 def: "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK537098/ "DO"] synonym: "left heart failure" EXACT [] synonym: "left ventricular dysfunction" EXACT [] synonym: "left ventricular dysfunctions" EXACT [] xref: MESH:D018487 is_a: DOID:9007039 ! Ventricular Dysfunction created_by: mtutaj creation_date: 2025-11-25T16:34:55Z [Term] id: DOID:0051065 name: chronic pancreatitis alt_id: DOID:9006190 def: "A pancreatitis that is characterized by long-term inflamation of the pancreas. (DO)" [https://medlineplus.gov/ency/article/000221.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK482325/ "DO"] synonym: "chronic pancreatitis, susceptibility to" RELATED [] xref: EFO:0000342 xref: MESH:D050500 xref: MONDO:0005003 xref: NCI:C84637 is_a: DOID:4989 ! pancreatitis created_by: mtutaj creation_date: 2025-11-25T16:39:56Z [Term] id: DOID:0051066 name: arterionephrosclerosis def: "A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5012291 "DO", https://www.pathologyoutlines.com/topic/kidneyarterionephrosclerosis.html "DO"] is_a: DOID:784 ! chronic kidney disease created_by: mtutaj creation_date: 2025-11-25T16:42:26Z [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)" [PMID: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 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", PMID: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 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", PMID:11213808 "DO", PMID: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: "SCIDX1" EXACT [] synonym: "SCID-X1" 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)" [PMID:29366662 "DO"] 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)" [PMID: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)" [PMID: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)" [PMID: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 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: MIM:242880 xref: MIM:267500 xref: MONDO:0009973 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://www.ncbi.nlm.nih.gov/gene/3981 "DO", MIM:606593 "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 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)" [PMID: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 xref: MIM:308230 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)" [PMID: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: 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 def: "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO)" [PMID: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 xref: MONDO:0013289 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/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: MONDO:0000590 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751 "DO", PMID:23203936 "DO"] synonym: "floppy head syndrome" EXACT [] xref: EFO:1001987 xref: MONDO:0858910 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: MONDO:0005503 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/health-information/disorders/pervasive-developmental-disorders "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"] xref: MONDO:0000602 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 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", PMID:2352260 "DO", PMID: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: MIM:119500 xref: MONDO:0017435 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 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: "RAD54L-related condition" BROAD [] synonym: "small non cleaved cell lymphoma" EXACT [] synonym: "small noncleaved cell lymphoma" EXACT [] synonym: "small noncleaved-cell lymphomas" EXACT [] synonym: "undifferentiated lymphoma" EXACT [] xref: EFO:0005952 xref: ICDO:9591/3 xref: MESH:D008228 xref: MIM:605027 xref: MONDO:0011508 xref: NCI:C179055 xref: NCI:C26919 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: autosomal dominant tubulointerstitial kidney disease def: "A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1356/ "DO"] synonym: "ADTKD" EXACT [] synonym: "familial juvenile hyperuricemic nephropathy" 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 xref: ORDO:34149 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: MONDO:0010797 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 xref: NCI:C3677 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: "ductal breast carcinoma in situ" 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 xref: MONDO:0005023 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", PMID:25471040 "DO"] xref: EFO:1000649 xref: MONDO:0006512 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", PMID:25471040 "DO"] xref: EFO:1000650 xref: MONDO:0006513 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", PMID:25471040 "DO"] xref: EFO:0009782 xref: MONDO:0000615 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", PMID: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 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)" [PMID:25682076 "DO"] xref: EFO:0009780 xref: MONDO:0000618 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)" [PMID: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"] 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)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677 "DO"] 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:9007920 ! Thoracic Neoplasms [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"] 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)" [PMID: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)" [PMID: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)" [PMID: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 xref: MONDO:0000646 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: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: MONDO:0005517 xref: NCI:C3325 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)" [PMID:2509855 "DO"] synonym: "Franklin's disease" EXACT [] synonym: "Franklin disease" EXACT [] synonym: "Franklins disease" EXACT [] xref: GARD:10346 xref: MONDO:0015046 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"] xref: MONDO:0000664 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 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: MONDO:0000665 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 [] xref: MONDO:0000667 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"] 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 [] xref: MONDO:0000681 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 [] xref: MONDO:0000682 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: "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 CONDITION" BROAD [] 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 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 xref: MIM:235800 xref: MONDO:0009345 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)" [PMID: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)" [PMID:22011963 "DO"] synonym: "GEFS+" EXACT [] xref: ICD10CM:G40.3 xref: MESH:C565808 xref: MIM:PS604233 xref: MONDO:0018214 xref: ORDO:36387 is_a: DOID:9007956 ! Febrile Seizures is_a: DOID:9009315 ! Idiopathic Generalized Epilepsy [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)" [PMID: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", PMID: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 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 xref: MIM:613163 xref: MONDO:0013166 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 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 xref: MIM:271980 xref: MONDO:0010083 xref: NCI:C206527 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)" [PMID:12891648 "DO"] xref: MONDO:0000698 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 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: "PQBP1-RELATED CONDITION" 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: MIM:309500 xref: MONDO:0010653 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: MONDO:0005292 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", PMID: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", PMID: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", PMID:15973125 "DO"] xref: ICD10CM:K50.0 xref: MONDO:0000708 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"] synonym: "Crohn's ileitis" EXACT [] xref: MESH:D007079 xref: MONDO:0000709 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. The most common type of Crohn's disease. (DO)" [https://my.clevelandclinic.org/health/diseases/9357-crohns-disease "DO"] xref: EFO:0005624 xref: MONDO:0005534 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", PMID: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"] 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 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" NARROW [] synonym: "amyotrophic lateral sclerosis, autosomal dominant" RELATED [] synonym: "amyotrophic lateral sclerosis, dominant" RELATED [] synonym: "amyotrophic lateral sclerosis, familial" RELATED [] synonym: "amyotrophic lateral sclerosis, sporadic" RELATED [] synonym: "FALS" EXACT [] synonym: "NEFH-related condition" BROAD [] synonym: "PRPH-related condition" BROAD [] xref: MESH:C531617 xref: MIM:105400 xref: MONDO:0007103 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: amyotrophic lateral sclerosis type 2 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", MIM:205100 "DO"] synonym: "ALS2" EXACT [] synonym: "ALS2-related spectrum disorders" RELATED [] synonym: "ALSJ" BROAD [] synonym: "amyotrophic lateral sclerosis 2" EXACT [] synonym: "juvenile ALS" BROAD [] synonym: "juvenile amyotrophic lateral sclerosis 2" EXACT [] 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", MIM: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: amyotrophic lateral sclerosis type 4 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", MIM:602433 "DO"] synonym: "ALS 4" EXACT [] synonym: "ALS4" EXACT [] synonym: "amyotrophic lateral sclerosis 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: "juvenile amyotrophic lateral sclerosis 4" 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: amyotrophic lateral sclerosis type 5 alt_id: MIM:602099 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", MIM:602099 "DO"] synonym: "ALS5" EXACT [] synonym: "amyotrophic lateral sclerosis 5" EXACT [] synonym: "juvenile amyotrophic lateral sclerosis 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", MIM: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", MIM: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", MIM: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 xref: NCI:C214854 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", MIM: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: "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 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", MIM:612577 "DO"] synonym: "ALS11" EXACT [] synonym: "amyotrophic lateral sclerosis 11" EXACT [] xref: GARD:10496 xref: MESH:C567244 xref: MIM:612577 xref: MONDO:0012945 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", MIM: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", MIM: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", MIM: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: "FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES" NARROW [] synonym: "FTDALS6" EXACT [] xref: MIM:613954 xref: MONDO:0013501 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", MIM:300857 "DO"] synonym: "ALS15" EXACT [] synonym: "amyotrophic lateral sclerosis 15" EXACT [] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [] synonym: "UBQLN2-RELATED DISORDER" EXACT [] xref: MIM:300857 xref: MONDO:0010459 xref: NCI:C214855 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", MIM:614373 "DO"] synonym: "ALS16" EXACT [] synonym: "amyotrophic lateral sclerosis 16" EXACT [] synonym: "amyotrophic lateral sclerosis 16, juvenile" EXACT [] xref: MIM:614373 xref: MONDO:0013715 xref: NCI:C214871 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", MIM:614808 "DO"] synonym: "ALS18" EXACT [] synonym: "amyotrophic lateral sclerosis 18" EXACT [] synonym: "PFN1-RELATED CONDITION" EXACT [] xref: MIM:614808 xref: NCI:C214856 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060210 name: amyotrophic lateral sclerosis type 19 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", MIM:615515 "DO"] synonym: "ALS19" EXACT [] synonym: "amyotrophic lateral sclerosis 19" EXACT [] synonym: "ERBB4-related condition" BROAD [] xref: MIM:615515 xref: MONDO:0014223 xref: NCI:C214857 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060211 name: amyotrophic lateral sclerosis type 20 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", MIM:615426 "DO"] synonym: "ALS20" EXACT [] synonym: "amyotrophic lateral sclerosis 20" EXACT [] xref: MIM:615426 xref: MONDO:0014181 xref: NCI:C214858 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)" [MIM: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: "MATR3-RELATED DISORDER" 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: C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis 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)" [MIM:105550 "DO"] comment: Updated nomenclature:sources https://www.cell.com/neuron/abstract/S0896-6273(25)00286-7 and https://www.ncbi.nlm.nih.gov/books/NBK268647/ -csbjohnson synonym: "C9orf72-FTD/ALS" EXACT [] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT [] synonym: "FTDALS1" EXACT [] xref: MIM:105550 xref: MONDO:0007105 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)" [MIM:615911 "DO", PMID:24934289 "DO"] synonym: "FTDALS2" EXACT [] xref: MIM:615911 xref: MONDO:0014395 xref: NCI:C214862 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://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx "DO", https://www.ncbi.nlm.nih.gov/articles/PMC3110404/ "DO", PMID:32140322 "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"] xref: GARD:6125 xref: MONDO:0020370 xref: NCI:C84644 xref: ORDO:98980 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: MONDO:0006599 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", PMID: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)" [PMID: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 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", PMID: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: MIM:201180 xref: MONDO:0100044 xref: ORDO:1784 is_a: DOID:1934 ! 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.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract "DO", PMID:18000904 "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: MONDO:0007034 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)" [https://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms "DO", https://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: MONDO:0008947 xref: NCI:C129973 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", PMID:9129737 "DO"] synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [] xref: ICD10CM:M21.8 xref: MIM:PS259450 xref: MONDO:0017195 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.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract "DO", PMID:22901925 "DO"] synonym: "BOR" EXACT [] synonym: "BO syndrome" EXACT [] synonym: "Branchiootic dysplasia" EXACT [] synonym: "INNER EAR MALFORMATION" NARROW [] xref: GARD:10148 xref: MESH:C537104 xref: MIM:PS602588 xref: MONDO:0018878 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: MONDO:0015280 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: MONDO:0019012 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 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: "CPT2-RELATED DISORDER" BROAD [] 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: MONDO:0015515 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", PMID: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", PMID: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)" [PMID: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 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: "VDWS" EXACT [] xref: GARD:8414 xref: ICD10CM:Q38.0 xref: MESH:C536528 xref: MONDO:0019508 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", PMID:18177473 "DO", PMID: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", PMID: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 def: "A hereditary spastic paraplegia associated with dementia. (DO)" [http://ghr.nlm.nih.gov/gene/SPG21 "DO", PMID: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: MIM:248900 xref: MONDO:0009568 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 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: MIM:303350 xref: MONDO:0010559 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", PMID: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", PMID: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: "GPC3-RELATED CONDITION" BROAD [] 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 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 xref: MIM:181800 xref: MIM:607354 xref: MIM:608765 xref: MIM:612238 xref: MIM:612239 xref: MONDO:0000726 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", PMID: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", PMID:3994576 "DO"] synonym: "isolated congenital sclerocornea" EXACT [] synonym: "SCLEROCORNEA, AUTOSOMAL RECESSIVE" NARROW [] xref: MESH:C565209 xref: MONDO:0019629 xref: ORDO:91490 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)" [PMID: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 xref: MONDO:0000727 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", PMID: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", PMID: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)" [PMID: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", PMID:17605805 "DO"] synonym: "Ivemark's syndrome" EXACT [] synonym: "RHPD" EXACT [] xref: MESH:C567142 xref: MIM:PS208540 xref: ORDO:294415 is_a: DOID:0080015 ! physical disorder is_a: DOID:26 ! pancreas disease is_a: DOID:2975 ! cystic kidney disease is_a: DOID:409 ! liver disease 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 superior eyelid drop present at birth. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO", https://eyewiki.aao.org/Ptosis\,_Congenital "DO"] synonym: "hereditary congenital ptosis" EXACT [] xref: ICD10CM:Q10.0 xref: ICD9CM:743.61 xref: NCI:C27049 xref: ORDO:91411 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"] 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" NARROW [] synonym: "congenital porencephaly" EXACT [] synonym: "developmental porencephaly" EXACT [] synonym: "encephaloclastic porencephaly" EXACT [] synonym: "Familial Porencephalic White Matter Disease" EXACT [] synonym: "Familial Porencephaly" EXACT [] synonym: "Infantile Hemiplegia with Porencephaly" EXACT [] synonym: "POREN1" NARROW [] synonym: "porencephalies" EXACT [] synonym: "porencephaly 1" NARROW [] synonym: "porencephaly type 1" NARROW [] synonym: "post traumatic porencephaly" EXACT [] synonym: "T1P" NARROW [] xref: GARD:7430 xref: ICD10CM:Q04.6 xref: MESH:D065708 xref: MONDO:0017410 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 xref: MONDO:0020135 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)" [PMID:12548734 "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: MONDO:0011866 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)" [PMID:25149867 "DO"] synonym: "EXOSC3-RELATED CONDITION" EXACT [] 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)" [MIM:277470 "DO"] synonym: "PCH2A" EXACT [] synonym: "pontocerebellar hypoplasia with progressive cerebral atrophy" EXACT [] synonym: "TSEN54-RELATED CONDITION" BROAD [] 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)" [MIM:612389 "DO"] synonym: "PCH2B" EXACT [] synonym: "TSEN2-RELATED CONDITION" 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)" [MIM:612390 "DO"] synonym: "PCH2C" EXACT [] synonym: "TSEN34-RELATED CONDITION" 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)" [MIM:613811 "DO"] synonym: "CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE" EXACT [] synonym: "PCCA" EXACT [] synonym: "PCH2D" EXACT [] synonym: "SEPSECS-related condition" BROAD [] xref: MIM:613811 xref: MONDO:0013438 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 profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. (DO)" [MIM:615851 "DO", PMID:24577744 "DO"] synonym: "PCH2E" EXACT [] synonym: "VPS53-related condition" BROAD [] xref: MIM:615851 xref: MONDO:0014370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060272 name: pontocerebellar hypoplasia type 3 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)" [PMID:19277761 "DO"] synonym: "cerebellar atrophy with progressive microcephaly" EXACT [] synonym: "CLAM" EXACT [] synonym: "PCH3" EXACT [] synonym: "PCH with optic atrophy" EXACT [] synonym: "PCLO-related condition" BROAD [] xref: GARD:10708 xref: MESH:C548072 xref: MIM:608027 xref: MONDO:0011948 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)" [PMID:18711368 "DO"] synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [] synonym: "olivopontocerebellar hypoplasia lethal type" EXACT [] synonym: "PCH4" EXACT [] synonym: "TSEN54-RELATED CONDITION" BROAD [] 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)" [PMID:16470708 "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)" [MIM:611523 "DO", PMID:17847012 "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)" [PMID:21594990 "DO"] synonym: "PCH7" EXACT [] synonym: "TOE1-related condition" BROAD [] 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)" [PMID:23023333 "DO"] synonym: "CHMP1A-RELATED CONDITION" EXACT [] 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)" [PMID:23911318 "DO"] synonym: "AMPD2-RELATED CONDITION" BROAD [] 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 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)" [PMID:24766809 "DO", PMID:24766810 "DO"] synonym: "CLP1-related condition" BROAD [] synonym: "PCH10" EXACT [] xref: MIM:615803 xref: MONDO:0014349 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)" [PMID: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)" [PMID: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)" [PMID: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: MONDO:0000734 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 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://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes "DO", PMID:22077973 "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 DISORDER" BROAD [] synonym: "KAT6B-RELATED MULTIPLE CONGENITAL ANOMALIES SYNDROME" BROAD [] 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: MIM:603736 xref: MONDO:0011365 xref: NCI:C206524 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", PMID: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: "ARSL-RELATED DISORDER" EXACT [] 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 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)" [MIM:118650 "DO"] synonym: "chondrodysplasia punctata due to vitamin K deficiency" EXACT [] synonym: "chondrodysplasia punctata due to warfarin teratogenicity" EXACT [] xref: MESH:C563248 xref: MIM:118650 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: MONDO:0015526 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 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 condition" BROAD [] synonym: "C2-related disorder" BROAD [] xref: GARD:1452 xref: MIM:217000 xref: MONDO:0009006 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060296 name: congenital secretory chloride diarrhea 1 def: "A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31. (DO)" [PMID:19861545 "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 diarrhoea, chloride type" EXACT [] synonym: "Darrow-Gamble disease" EXACT [] synonym: "DIAR1" EXACT [] synonym: "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL" EXACT [] synonym: "SLC26A3-related condition" BROAD [] xref: MESH:C536210 xref: MIM:214700 xref: MONDO:0008964 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)" [MIM: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)" [MIM: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)" [MIM:612446 "DO"] synonym: "C6D" EXACT [] synonym: "C6 Deficiency" EXACT [] synonym: "C6 deficiency, subtotal" NARROW [] synonym: "C6-RELATED CONDITION" BROAD [] 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)" [MIM: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: "C8A-RELATED CONDITION" 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 xref: MONDO:0013421 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060303 name: complement component 9 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)" [MIM:613825 "DO"] synonym: "C9D" EXACT [] synonym: "C9 deficiency" EXACT [] synonym: "C9-related condition" BROAD [] xref: ICD10CM:D84.1 xref: MESH:C565165 xref: MIM:613825 xref: MONDO:0013445 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", PMID:12372090 "DO"] xref: GARD:1996 xref: MESH:C535730 xref: MIM:PS127500 xref: MONDO:0000736 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 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", PMID:6849653 "DO"] synonym: "anterior megalophthalmos" EXACT [] synonym: "CHRDL1-related condition" BROAD [] 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: MIM:249300 xref: MIM:309300 xref: MONDO:0009576 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://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/ "DO", PMID:14564153 "DO", PMID:37059840 "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)" [PMID:21124998 "DO"] synonym: "autosomal dominant intellectual disability" EXACT [] 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: MONDO:0100172 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)" [PMID: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", PMID: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", PMID:21126775 "DO"] synonym: "adenoidal hypertrophy" EXACT [] synonym: "enlarged adenoids" EXACT [] xref: ICD10CM:J35.2 xref: ICD9CM:474.12 xref: MONDO:0000740 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 [] 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: MONDO:0000743 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 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: MIM:311200 xref: MONDO:0010702 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 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: MIM:612376 xref: MONDO:0012883 xref: NCI:C208352 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 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 xref: MONDO:0000754 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: MONDO:0000755 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 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)" [PMID:28584763 "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: MIM:129400 xref: MONDO:0007508 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)" [MIM: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)" [PMID:20566710 "DO"] synonym: "ATP5F1E-RELATED CONDITION" EXACT [] synonym: "ATP6V0A4-RELATED CONDITION" EXACT [] 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)" [PMID:23599390 "DO", PMID: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", PMID: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: MONDO:0020525 xref: ORDO:99886 is_a: DOID:11717 ! neonatal diabetes mellitus 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: "HSPA9-RELATED CONDITION" BROAD [] 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: MONDO:0017359 xref: ORDO:289902 is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:0060337 name: CEDNIK syndrome 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)" [PMID:21073448 "DO"] synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [] synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" EXACT [] synonym: "SNAP29-related condition" BROAD [] xref: MESH:C537943 xref: MIM:609528 xref: MONDO:0012290 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)" [PMID:10717216 "DO", PMID: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 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)" [PMID:25282101 "DO"] synonym: "CAID" EXACT [] synonym: "CAID syndrome" EXACT [] synonym: "SGO1-related condition" BROAD [] xref: MIM:616201 xref: MONDO:0014528 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", PMID:18178628 "DO", PMID: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)" [PMID: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 [] synonym: "PRRX1-RELATED CONDITION" 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 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)" [PMID:15264282 "DO"] synonym: "AFND" EXACT [] synonym: "Toriello syndrome" EXACT [] synonym: "ZSWIM6-related condition" BROAD [] xref: GARD:5539 xref: MESH:C566345 xref: MIM:603671 xref: MONDO:0011359 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)" [PMID:17566815 "DO", PMID:22870429 "DO"] synonym: "steroid-induced osteoporosis" RELATED [] xref: MONDO:0000757 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", PMID: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: congenital myopathy 13 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)" [PMID:18553514 "DO"] synonym: "Bailey-Bloch congenital myopathy" EXACT [] synonym: "Baily-Bloch congenital myopathy" EXACT [] synonym: "CMYO13" EXACT [] synonym: "CMYP13" 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 [] synonym: "Native American myopathy" EXACT [] synonym: "STAC3 disorder" EXACT [] synonym: "STAC3-related disorder" 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: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)" [PMID: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)" [PMID:15645691 "DO", PMID: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 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)" [PMID:10482868 "DO", PMID:11302131 "DO", PMID:25124931 "DO", PMID: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: MIM:152950 xref: MONDO:0007918 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", PMID:20150536 "DO", PMID:22700886 "DO", PMID:8864750 "DO"] synonym: "2,8-Dihydroxyadenine Urolithiasis" EXACT [] synonym: "2,8-Dihydroxyadeninuria" EXACT [] synonym: "APRTD" EXACT [] synonym: "APRT Deficiency" EXACT [] synonym: "APRT-RELATED CONDITION" 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", PMID:21278747 "DO"] synonym: "MC3DN2" EXACT [] synonym: "TTC19-related condition" BROAD [] xref: MIM:615157 xref: MONDO:0014063 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0060352 name: Kleefstra syndrome 1 alt_id: DOID:0070075 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", PMID:15264279 "DO", PMID:16826528 "DO", PMID: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" BROAD [] synonym: "KLEFS1" EXACT [] xref: GARD:8672 xref: MESH:C563043 xref: MIM:610253 xref: MONDO:0027407 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)" [PMID: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", PMID:24619930 "DO", PMID: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)" [MIM: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 [] synonym: "TUBA4A-related condition" BROAD [] 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 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", PMID:21965116 "DO", PMID: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: MIM:242840 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 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", PMID:10521380 "DO", PMID:20920215 "DO", PMID:3430059 "DO", PMID: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 [] synonym: "SAR1B-related condition" BROAD [] xref: GARD:9683 xref: MESH:C535460 xref: MIM:246700 xref: MONDO:0009528 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", PMID:12815589 "DO", PMID: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)" [PMID: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", PMID:22427807 "DO"] synonym: "DEFICIENCY OF GLYCEROL KINASE" EXACT [] synonym: "GK1 deficiency" EXACT [] synonym: "GKD" EXACT [] synonym: "GK deficiency" EXACT [] synonym: "GK-related condition" BROAD [] 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", PMID:26123727 "DO"] synonym: "autosomal recessive spinocerebellar ataxia 5" EXACT [] synonym: "GAMOS1" EXACT [] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] synonym: "SCAR5" EXACT [] synonym: "WDR73-related condition" BROAD [] 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)" [PMID:25772936 "DO"] synonym: "EDNRA-RELATED CONDITION" BROAD [] 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", PMID:14564208 "DO", PMID:24870712 "DO", PMID: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 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", PMID: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: MIM:168601 xref: MONDO:0008200 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)" [PMID: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: "Parkinson disease juvenile type 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)" [PMID: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 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)" [PMID: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: MIM:606324 xref: MONDO:0011658 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)" [PMID: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 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)" [PMID: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: "pallido-pyramidal syndrome" EXACT [] synonym: "pallidopyramidal 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: MIM:260300 xref: MONDO:009830 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", PMID:23972372 "DO"] synonym: "DDX59-RELATED CONDITION" EXACT [] 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 def: "A Joubert syndrome that is characterized by orofaciodigital defect. (DO)" [PMID: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: MIM:277170 xref: MONDO:0010176 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)" [PMID:14598343 "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)" [PMID:8261648 "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 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", PMID: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: MIM:258865 xref: MONDO:0009795 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 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: MIM:201170 xref: MONDO:0008714 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 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: MIM:101805 xref: MONDO:0007045 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 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)" [PMID:9098488 "DO"] synonym: "Palagonia type of acrofacial dysostosis" EXACT [] xref: MESH:C538185 xref: MIM:601829 xref: MONDO:0011154 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)" [MIM:610448 "DO"] synonym: "Chilblain lupus erythematosus" EXACT [] xref: MIM:PS610448 xref: MONDO:0019557 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 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: MIM:215045 xref: MONDO:0008970 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)" [PMID: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)" [PMID: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 disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)" [MIM: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)" [MIM: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)" [PMID: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)" [PMID:20808231 "DO"] synonym: "chromosome 16p11.2 deletion syndrome" EXACT [] synonym: "distal 16p11.2 microdeletion syndrome" EXACT [] xref: MIM:613444 xref: MONDO:0013267 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)" [PMID:20154674 "DO"] synonym: "chromosome 16p12.1 deletion syndrome, 520kb" EXACT [] xref: MIM:136570 xref: MONDO:0007631 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)" [PMID:19449418 "DO"] synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [] synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [] xref: MIM:613604 xref: MONDO:0013320 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)" [PMID: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)" [PMID: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)" [PMID: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: MONDO:0013797 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)" [PMID: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 def: "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)" [PMID: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: MIM:146390 xref: MONDO:0007800 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 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: MIM:601808 xref: MONDO:0011147 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)" [PMID: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: NCI:C217084 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)" [PMID: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://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome "DO", PMID:18179902 "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)" [PMID: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)" [PMID: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)" [PMID: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", PMID:19760623 "DO"] synonym: "3p- syndrome" EXACT [] synonym: "chromosome 3pter-P25 deletion syndrome" EXACT [] synonym: "distal monosomy 3p" EXACT [] xref: MIM:613792 xref: MONDO:0013424 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)" [PMID: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)" [PMID: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)" [PMID: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 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)" [PMID:18629875 "DO"] synonym: "6p25 microdeletion syndrome" EXACT [] synonym: "6p subtelomeric deletion syndrome" EXACT [] synonym: "distal monosomy 6p" EXACT [] xref: MESH:C567239 xref: MIM:612582 xref: MONDO:0012948 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)" [PMID:19213033 "DO"] xref: MIM:613544 xref: MONDO:0013299 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)" [PMID: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)" [PMID:21802062 "DO"] synonym: "8q21.11 microdeletion syndrome" EXACT [] xref: MIM:614230 xref: MONDO:0013646 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)" [PMID: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)" [PMID: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)" [PMID: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: MONDO:0013796 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)" [PMID: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 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: MIM:608363 xref: MONDO:0012020 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)" [PMID: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)" [PMID: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", PMID: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)" [PMID: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"] synonym: "TGFBI-RELATED CONDITION" BROAD [] 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)" [PMID: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)" [PMID:19236704 "DO"] synonym: "dystrophy of corneal endothelium" EXACT [] synonym: "endothelial dystrophy" EXACT [] xref: MONDO:0000766 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 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", MIM: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: MESH:C535474 xref: MIM:607541 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: "DCN-RELATED CONDITION" 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)" [PMID: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)" [PMID: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 [] synonym: "TGFBI-RELATED CONDITION" BROAD [] 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)" [PMID:23288988 "DO", PMID:26396486 "DO"] synonym: "CFD" EXACT [] synonym: "FCD" EXACT [] synonym: "Francois-Neetens corneal dystrophy, speckled or flecked" EXACT [] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [] synonym: "PIKFYVE-RELATED CONDITION" 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)" [PMID: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 [] synonym: "TACSTD2-RELATED CONDITION" 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)" [PMID:11024418 "DO", PMID: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)" [PMID: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 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)" [MIM: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: MIM:608470 xref: MONDO:0012043 xref: ORDO:98961 is_a: DOID:0060441 ! epithelial-stromal TGFBI 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)" [PMID: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)" [MIM: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)" [PMID: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)" [PMID:20577005 "DO"] xref: MIM:613681 xref: MONDO:0013363 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)" [PMID: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)" [PMID: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)" [PMID:19853239 "DO", PMID: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", PMID:21221870 "DO", PMID:25685583 "DO", PMID:26378054 "DO", PMID:26402248 "DO"] synonym: "BRD4-RELATED CONDITION" BROAD [] 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", PMID:14518066 "DO", PMID: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)" [PMID:11868160 "DO", PMID: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", PMID:12223419 "DO", PMID: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 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", PMID:21239872 "DO", PMID: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: MONDO:0009532 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)" [PMID: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: NCI:C206525 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 def: "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO)" [PMID:17090909 "DO", PMID: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: MIM:609442 xref: MONDO:0012275 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", PMID: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", PMID:25281733 "DO", PMID:25972376 "DO", PMID: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: MONDO:0016512 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)" [PMID: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", PMID:23708187 "DO", PMID: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" BROAD [] synonym: "SLC6A1-related neurodevelopmental condition" BROAD [] synonym: "SLC6A1-related neurodevelopmental disorder" BROAD [] synonym: "UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY" NARROW [] xref: MIM:616421 xref: MONDO:0014633 xref: NCI:C165674 xref: NCI:C172100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:9005154 ! Myoclonic Epilepsies is_a: DOID:9009315 ! Idiopathic Generalized Epilepsy [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", PMID:18780370 "DO", PMID:22306653 "DO"] synonym: "DIS3L2-RELATED CONDITION" EXACT [] 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 (Orthoflavivirus zikaense), 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)" [https://en.wikipedia.org/wiki/Zika_fever "DO", https://www.cdc.gov/zika/about/ "DO", https://www.ecdc.europa.eu/en/zika-virus-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK430981/ "DO", https://www.who.int/news-room/fact-sheets/detail/zika-virus "DO"] synonym: "Zika virus disease" EXACT [] synonym: "Zika virus infection" EXACT [] xref: GARD:12894 xref: ICD10CM:A92.8 xref: ICD9CM:066.3 xref: MESH:D000071243 xref: MONDO:0018661 xref: NCI:C128423 xref: ORDO:448237 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:0060479 name: Shwachman-Diamond syndrome alt_id: DOID:0080023 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", PMID:18356737 "DO", PMID:22201042 "DO"] synonym: "congenital lipomatosis of pancreas" EXACT [] synonym: "metaphyseal chondrodysplasia, Shwachman type" EXACT [] synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [] synonym: "SBDS-RELATED CONDITION" BROAD [] 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:260400 xref: MIM:PS260400 xref: MONDO:0009833 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)" [PMID: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 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", PMID:15883926 "DO", PMID:23427148 "DO"] synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [] synonym: "GOSHS" EXACT [] synonym: "KIFBP-related disorder" EXACT [] xref: GARD:9849 xref: MESH:C537279 xref: MIM:609460 xref: MONDO:0012280 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)" [PMID:18423520 "DO", PMID:25574057 "DO"] synonym: "HMX1-RELATED CONDITION" EXACT [] 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)" [PMID:23423674 "DO", PMID:24754424 "DO"] synonym: "AP1S1-RELATED CONDITION" EXACT [] 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)" [PMID:19289823 "DO", PMID:19420365 "DO", PMID: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", PMID:17958891 "DO", PMID: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", PMID:17436255 "DO", PMID:26621827 "DO", PMID: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 [] synonym: "TCF4-RELATED CONDITION" BROAD [] 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", PMID:10653321 "DO"] synonym: "immunoosseous dysplasia Schimke type" EXACT [] synonym: "Schimke immunoosseous dysplasia" EXACT [] synonym: "Schimke syndrome" EXACT [] synonym: "SIOD" EXACT [] synonym: "SMARCAL1-RELATED DISORDER" 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)" [PMID:15852396 "DO", PMID:26385635 "DO"] synonym: "KLC2-RELATED CONDITION" EXACT [] 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)" [PMID:28027402 "DO", PMID:29858102 "DO", PMID: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)" [PMID:25006500 "DO", PMID: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: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)" [PMID: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", PMID: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 xref: MONDO:0000775 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)" [PMID: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)" [PMID: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", PMID:26022876 "DO", PMID: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", PMID:26549334 "DO", PMID: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", PMID: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", PMID:26549334 "DO", PMID: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", PMID:14976388 "DO", PMID: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)" [PMID:26549334 "DO", PMID: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", PMID: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)" [PMID: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", PMID:12001794 "DO", PMID: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", PMID:24795722 "DO", PMID: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", PMID:24795722 "DO", PMID: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", PMID:24795722 "DO", PMID: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", PMID:24795722 "DO", PMID: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)" [PMID:24795722 "DO", PMID:26111497 "DO", PMID: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", PMID:31009700 "DO"] 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)" [PMID: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)" [PMID:17002714 "DO", PMID: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)" [PMID:28027402 "DO", PMID:29858102 "DO", PMID:30893087 "DO"] is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060524 name: crustacean allergy def: "A shellfish allergy triggered by Crustacea. (DO)" [PMID:28027402 "DO", PMID:29858102 "DO", PMID: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", PMID:28027402 "DO", PMID: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)" [PMID:25728640 "DO", PMID: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", PMID: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", PMID:22135598 "DO", PMID: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)" [PMID:20471069 "DO", PMID:28027402 "DO", PMID: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", PMID: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", PMID: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", PMID:20137776 "DO", PMID:21490908 "DO", PMID:23033317 "DO", PMID:26089203 "DO", PMID:31169992 "DO"] synonym: "DDX11-related condition" BROAD [] synonym: "WABS" EXACT [] xref: GARD:13708 xref: MIM:613398 xref: MONDO:0013252 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)" [PMID: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: MONDO:0031230 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", ORDO:49566 "DO", PMID:26955583 "DO"] synonym: "purpura gangrenosa" EXACT [] xref: EFO:1001913 xref: ICD10CM:D65 xref: MESH:D055665 xref: MONDO:0000809 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)" [MIM: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 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)" [MIM:608233 "DO"] synonym: "Hermansky-Pudlak syndrome with neutropenia" EXACT [] synonym: "HPS2" EXACT [] synonym: "Platelet defects and oculocutaneous albinism" EXACT [] xref: MESH:C537709 xref: MIM:608233 xref: MONDO:0011997 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)" [MIM:614072 "DO"] synonym: "HPS3" EXACT [] synonym: "HPS3-related condition" BROAD [] xref: MIM:614072 xref: MONDO:0013555 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)" [MIM: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)" [MIM: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)" [MIM: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)" [MIM: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)" [MIM: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)" [MIM:614171 "DO"] synonym: "BLOC1S6-related condition" BROAD [] synonym: "HPS9" EXACT [] xref: MIM:614171 xref: MONDO:0013606 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 A breast cancer" EXACT [] 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 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)" [PMID:27196381 "DO"] synonym: "BBRSAY" EXACT [] synonym: "BSS" EXACT [] synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" EXACT [] xref: GARD:819 xref: MESH:C537908 xref: MIM:209885 xref: MONDO:0008853 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", PMID: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)" [PMID:20734427 "DO"] synonym: "Navajo immune deficient poikiloderma" EXACT [] synonym: "Navajo Poikiloderma" EXACT [] synonym: "PN" EXACT [] synonym: "poikiloderma with neutropenia, Clericuzio-type" EXACT [] synonym: "USB1-RELATED CONDITION" 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)" [PMID:15986421 "DO", PMID: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-oculomotor apraxia 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 with oculomotor apraxia type 3" EXACT [] synonym: "PIK3R5-RELATED CONDITION" EXACT [] xref: MIM:615217 xref: MONDO:0014084 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)" [PMID:22610851 "DO"] xref: GARD:12643 xref: ICD10CM:Q68.8 xref: MIM:PS253310 xref: MONDO:0017436 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)" [PMID: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 def: "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)" [PMID:15378541 "DO", PMID: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: MIM:607598 xref: MONDO:0011868 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)" [PMID:10368122 "DO"] synonym: "CHAR" EXACT [] synonym: "Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits" EXACT [] synonym: "TFAP2B-RELATED CONDITION" BROAD [] 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)" [PMID: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: MONDO:0019526 xref: ORDO:90000 is_a: DOID:11450 ! allergic cutaneous vasculitis [Term] id: DOID:0060569 name: hypertrichotic osteochondrodysplasia Cantu type 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: MIM:239850 xref: MONDO:0009406 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)" [PMID: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)" [PMID:24065355 "DO"] synonym: "RTSC1" EXACT [] synonym: "WASHC5-RELATED CONDITION" BROAD [] xref: MIM:220210 xref: MONDO:0009073 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)" [PMID: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 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)" [PMID:16889557 "DO", PMID: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: MIM:193400 xref: MONDO:0008668 xref: NCI:C131685 xref: OMIA:001057 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)" [PMID: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", MIM:257920 "DO"] synonym: "3MC1" EXACT [] synonym: "craniosynostosis with lid anomalies" EXACT [] synonym: "MASP1-RELATED CONDITION" 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", MIM:265050 "DO"] synonym: "3MC2" EXACT [] synonym: "Carnevale Krajewska Fischetto syndrome" EXACT [] synonym: "Carnevale Syndrome" EXACT [] synonym: "COLEC11-RELATED CONDITION" 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)" [PMID:21258343 "DO"] synonym: "3MC3" EXACT [] synonym: "COLEC10-RELATED CONDITION" 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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID:19206169 "DO"] synonym: "NS7" EXACT [] xref: MIM:613706 xref: MONDO:0013379 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)" [PMID:24939608 "DO", PMID: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)" [PMID: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 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)" [PMID: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 xref: MONDO:0014693 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060589 name: Yunis-Varon syndrome 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)" [PMID: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 xref: MIM:216340 xref: MONDO:0008995 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)" [PMID: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", PMID:10767001 "DO"] synonym: "CXCR4-RELATED CONDITION" EXACT [] synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1" EXACT [] synonym: "WHIMS1" 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, BCR-ABL1 negative alt_id: DOID:8747 def: "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 "DO", PMID: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" 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: ICDO:9876/3 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 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", PMID:2246772 "DO", PMID: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: MIM:302350 xref: MONDO:0010545 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 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)" [PMID:11472338 "DO", PMID: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 [] synonym: "SERPINF2-related condition" EXACT [] xref: ICD10CM:D68.8 xref: MESH:C537777 xref: MIM:262850 xref: MONDO:0009883 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)" [PMID:11861706 "DO"] synonym: "AMACRD" EXACT [] synonym: "AMACR Deficiency" EXACT [] synonym: "AMACR-RELATED CONDITION" BROAD [] 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)" [PMID:2401610 "DO"] synonym: "ANHD" EXACT [] synonym: "Dann-Epstein-Sohar syndrome" EXACT [] synonym: "ITPR2-RELATED CONDITION" EXACT [] xref: MIM:106190 xref: MONDO:0007118 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", PMID:18983637 "DO", PMID: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", PMID: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 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)" [MIM:210710 "DO", PMID: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: MIM:210710 xref: MONDO:0008871 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)" [MIM:210720 "DO", PMID: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 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", PMID:21792650 "DO", PMID:25407000 "DO"] synonym: "ACTG2-RELATED CONDITION" BROAD [] 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: MESH:C563597 xref: MIM:155310 xref: MIM:PS249210 xref: MONDO:0025986 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)" [PMID: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)" [MIM:615812 "DO", PMID: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 def: "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO)" [PMID:14729838 "DO"] synonym: "CPX" EXACT [] synonym: "TBX22-related condition" BROAD [] synonym: "X-linked cleft palate" EXACT [] synonym: "X-linked cleft palate and ankyloglossia" EXACT [] xref: MESH:C536426 xref: MIM:303400 xref: MONDO:0010560 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 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)" [PMID:8595424 "DO", PMID:8923944 "DO"] synonym: "Pallister ulnar-mammary syndrome" EXACT [] synonym: "Schinzel syndrome" EXACT [] synonym: "TBX3-related condition" BROAD [] synonym: "ulnar-mammary syndrome of Pallister" EXACT [] synonym: "UMS" EXACT [] xref: GARD:118 xref: MESH:C536937 xref: MIM:181450 xref: MONDO:0008411 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 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)" [PMID:16715098 "DO"] synonym: "GLIS3-related condition" BROAD [] synonym: "NDH" EXACT [] synonym: "NDH syndrome" EXACT [] xref: MESH:C565705 xref: MIM:610199 xref: MONDO:0012436 xref: ORDO:79118 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes mellitus [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)" [PMID: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: MONDO:0100164 xref: NCI:C114902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes mellitus [Term] id: DOID:0060640 name: ethylmalonic encephalopathy 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", PMID: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: MIM:602473 xref: MONDO:0011229 xref: ORDO:51188 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060641 name: endocrine-cerebro-osteodysplasia syndrome 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)" [PMID:19185282 "DO", PMID:24853502 "DO"] synonym: "CILK1-RELATED CONDITION" BROAD [] synonym: "DYSPLASTIC CORPUS CALLOSUM" NARROW [] synonym: "ECO" EXACT [] synonym: "ECO syndrome" EXACT [] synonym: "endocrine-cerebroosteodysplasia" EXACT [] xref: MESH:C567210 xref: MIM:612651 xref: MONDO:0012980 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", PMID:3307723 "DO", PMID: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: "dystrophic epidermolysis bullosa, autosomal recessive" EXACT [] synonym: "epidermolysis bullosa dystrophica, AR" EXACT [] synonym: "epidermolysis bullosa dystrophica, autosomal recessive" EXACT [] synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" EXACT [] synonym: "epidermolysis bullosa dystrophica, recessive" EXACT [] synonym: "Hallopeau-Siemens disease" 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: MONDO:0009179 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)" [PMID:7877651 "DO"] synonym: "primary sclerosing cholangitides" EXACT [] synonym: "PSC" EXACT [] xref: GARD:1280 xref: ICD10CM:K83.01 xref: MIM:613806 xref: MONDO:0013433 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)" [PMID:1342874 "DO"] synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [] synonym: "chondrodysplasia pseudohermaphrodism syndrome" EXACT [] synonym: "HHAT-RELATED CONDITION" 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.nomidalliance.org/crmo.php "DO", PMID:11973628 "DO", PMID:4403064 "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", PMID: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)" [PMID:20961246 "DO"] synonym: "CHUK-RELATED CONDITION" BROAD [] 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", PMID:17914436 "DO", PMID: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 anomalies" EXACT [] xref: GARD:10025 xref: MESH:C537775 xref: MIM:PS107250 xref: MONDO:0019503 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 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)" [PMID: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 xref: MIM:217700 xref: MONDO:0009019 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)" [PMID: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 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", PMID: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: MIM:155100 xref: MONDO:0015912 xref: NCI:C158788 xref: OMIA:001608 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)" [PMID: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 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)" [PMID:17701898 "DO"] synonym: "LCCS3" EXACT [] synonym: "multiple contractural syndrome, Israeli Bedouin type B" EXACT [] synonym: "multiple contracture syndrome, Israeli Bedouin type B" EXACT [] synonym: "PIP5K1C-related condition" BROAD [] xref: GARD:12644 xref: MESH:C566961 xref: MIM:611369 xref: MONDO:0012656 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)" [PMID:22610851 "DO"] synonym: "LCCS4" EXACT [] synonym: "MYBPC1-RELATED AUTOSOMAL RECESSIVE NON-LETHAL ARTHROGRYPOSIS MULTIPLEX CONGENITA SYNDROME" RELATED [] 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", PMID: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)" [PMID: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 [] synonym: "TGM1-RELATED CONDITION" 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)" [PMID:14624391 "DO"] synonym: "CCM2" EXACT [] synonym: "CCM2-RELATED CONDITION" 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)" [PMID:15543491 "DO"] synonym: "CCM3" EXACT [] synonym: "cerebral cavernous malformations 3" EXACT [] synonym: "PDCD10-RELATED DISORDER" 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: frontotemporal dementia 2 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)" [PMID:16862116 "DO", PMID:16983677 "DO"] synonym: "frontotemporal dementia with TDP43 inclusions, GRN-related" EXACT [] synonym: "frontotemporal lobar degeneration with ubiquitin positive inclusions" EXACT [] synonym: "FTD2" EXACT [] synonym: "FTD-GRN" EXACT [] synonym: "FTD-PGRN" EXACT [] synonym: "FTDU" EXACT [] synonym: "FTLD-TDP, GRN-related" EXACT [] synonym: "FTLDU" EXACT [] synonym: "FTLD with TDP 43 Pathology" EXACT [] synonym: "GRN-related frontotemporal dementia" EXACT [] synonym: "GRN-related frontotemporal lobar degeneration with TDP43 inclusions" EXACT [] synonym: "HDDD aphasia, primary progressive" NARROW [] synonym: "hereditary dysphasic disinhibition dementia" EXACT [] synonym: "PPA" NARROW [] synonym: "ubiquitin-positive frontotemporal dementia" EXACT [] xref: ICD10CM:G31.0 xref: MIM:607485 xref: MONDO:0011842 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive 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)" [PMID:11403040 "DO", PMID:12614756 "DO", PMID:8162071 "DO"] synonym: "irido-corneo-trabecular dysgenesis" NARROW [] xref: GARD:7377 xref: ICD10CM:Q13.4 xref: MESH:C537884 xref: MONDO:0011414 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", PMID: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)" [PMID:12093772 "DO", PMID: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)" [PMID: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)" [PMID: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)" [PMID: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)" [PMID: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 [] synonym: "TRDN-related condition" BROAD [] xref: MIM:615441 xref: MONDO:0014191 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0060680 name: pigment dispersion syndrome 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)" [PMID:10192392 "DO", PMID: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: MIM:600510 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)" [PMID:7895015 "DO"] synonym: "ADNFLE" EXACT [] synonym: "autosomal dominant epilepsy" EXACT [] synonym: "ENFL" EXACT [] synonym: "FAMILIAL SLEEP-RELATED HYPERMOTOR EPILEPSY" EXACT [] synonym: "nocturnal epilepsy, frontal lobe type" EXACT [] synonym: "nocturnal frontal lobe epilepsy" EXACT [] xref: GARD:11918 xref: MESH:C579932 xref: MIM:PS600513 xref: MONDO:0020300 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 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO)" [PMID: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: MIM:600513 xref: MONDO:0010899 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060683 name: autosomal dominant nocturnal frontal lobe epilepsy 2 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO)" [PMID:9758605 "DO"] synonym: "ENFL2" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, 2" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 2" EXACT [] xref: MESH:C566400 xref: MIM:603204 xref: MONDO:0011297 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060684 name: autosomal dominant nocturnal frontal lobe epilepsy 3 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)" [PMID:11062464 "DO"] synonym: "CHRNB2-related condition" BROAD [] synonym: "ENFL3" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3" EXACT [] synonym: "nocturnal frontal lobe epilepsy 3" EXACT [] xref: MESH:C565334 xref: MIM:605375 xref: MONDO:0011545 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060685 name: autosomal dominant nocturnal frontal lobe epilepsy 4 alt_id: DOID:0081119 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)" [PMID:16826524 "DO"] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [] synonym: "benign familial infantile convulsions 6" EXACT [] synonym: "benign familial infantile seizures 6" EXACT [] synonym: "BFIC6" EXACT [] synonym: "BFIS6" EXACT [] synonym: "CHRNA2-RELATED DISORDER" EXACT [] 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 xref: MIM:610353 xref: MONDO:0012474 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)" [PMID:23086396 "DO"] synonym: "ENFL5" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, 5" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 5" EXACT [] synonym: "KCTD13-RELATED DISORDER" BROAD [] xref: MIM:615005 xref: MONDO:0014002 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)" [PMID: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)" [PMID:10205263 "DO"] synonym: "APL" EXACT [] synonym: "HR-RELATED CONDITION" BROAD [] 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)" [PMID:15520414 "DO", PMID: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)" [PMID:18065693 "DO", PMID:21454453 "DO", PMID: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)" [PMID:11196645 "DO", PMID: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: "P2RY12-RELATED CONDITION" 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 def: "An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)" [PMID:8211186 "DO", PMID: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: MIM:300615 xref: MONDO:0010379 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)" [PMID:14556008 "DO", PMID:8845847 "DO"] synonym: "ATCAY" EXACT [] synonym: "ATCAY-RELATED CONDITION" 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)" [PMID:12427512 "DO", PMID: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)" [PMID:7881416 "DO", PMID: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)" [PMID:11929858 "DO", PMID: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)" [PMID:16751771 "DO", PMID:22700964 "DO"] synonym: "HKPX3" EXACT [] synonym: "SLC6A5-RELATED CONDITION" 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)" [PMID: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)" [PMID: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)" [PMID: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: "GNA11-RELATED CONDITION" BROAD [] 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)" [PMID:23222959 "DO"] synonym: "AP2S1-RELATED CONDITION" EXACT [] 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 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)" [PMID:18000976 "DO", PMID: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: MIM:602849 xref: MONDO:0011274 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)" [PMID:198660 "DO", PMID: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)" [PMID:6283885 "DO", PMID: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)" [PMID:17080092 "DO"] synonym: "XIAP deficiency" EXACT [] synonym: "XIAP-RELATED DISORDER" EXACT [] synonym: "X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO 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)" [PMID:19425169 "DO", PMID:21109689 "DO"] synonym: "EBV-associated lymphoproliferative syndrome, autosomal 1" EXACT [] synonym: "ITK-RELATED DISORDER" 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)" [PMID:22197273 "DO", PMID: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)" [PMID:11773004 "DO", PMID: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 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)" [PMID:11398099 "DO", PMID:11773004 "DO"] synonym: "ALOXE3-RELATED CONDITION" EXACT [] synonym: "ARCI3" EXACT [] synonym: "COLLODION BABY, SELF-HEALING" EXACT [] synonym: "lamellar ichthyosis 5" EXACT [] synonym: "lamellar ichthyosis type 5" EXACT [] synonym: "LI5" EXACT [] xref: MESH:C564699 xref: MIM:606545 xref: MONDO:0011680 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)" [PMID:10094194 "DO", PMID:20672373 "DO"] synonym: "ABCA12-RELATED CONDITION" BROAD [] 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", PMID:21339420 "DO"] synonym: "ABCA12-RELATED CONDITION" BROAD [] 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)" [PMID:10712223 "DO", PMID:16436457 "DO"] synonym: "ARCI5" EXACT [] synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [] synonym: "CYP4F22-RELATED CONDITION" 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)" [PMID:16436457 "DO", PMID:17557927 "DO"] synonym: "ARCI6" EXACT [] synonym: "autosomal recessive congenital ichthyosis, NIPAL4-related" EXACT [] synonym: "ichthyosis, NIPAL4-related" EXACT [] synonym: "NIPAL4-RELATED CONDITION" 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)" [PMID: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)" [PMID:21439540 "DO"] synonym: "ARCI8" EXACT [] synonym: "lamellar ichthyosis 4" EXACT [] synonym: "late-onset lamellar ichthyosis" EXACT [] synonym: "LI4" EXACT [] synonym: "LIPN-RELATED CONDITION" 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)" [PMID:21093221 "DO", PMID:23754960 "DO"] synonym: "ARCI9" EXACT [] synonym: "CERS3-related condition" BROAD [] xref: MIM:615023 xref: MONDO:0014010 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)" [PMID: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)" [PMID:17273967 "DO", PMID:18843291 "DO", PMID: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 [] synonym: "ST14-RELATED CONDITION" EXACT [] xref: MIM:602400 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0060728 name: congenital disorder of deglycosylation 1 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 3p24. (DO)" [PMID:24651605 "DO", PMID:27388694 "DO"] synonym: "CDDG" EXACT [] synonym: "CDDG1" EXACT [] synonym: "CDG1V" RELATED [] synonym: "CDG IV" RELATED [] synonym: "CDGIV" RELATED [] 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-deficiency" EXACT [] synonym: "NGLY1-related condition" EXACT [] xref: ICD10CM:E77.8 xref: MESH:C000626124 xref: MIM:615273 xref: MONDO:0800044 xref: NCI:C126746 xref: ORDO:404454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060991 ! congenital disorder of deglycosylation [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)" [PMID:11912106 "DO", PMID: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: "TOR1A-RELATED DISORDER" BROAD [] 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)" [PMID:11840487 "DO", PMID:12640453 "DO", PMID:8135282 "DO", PMID: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: "GDNF-related condition" BROAD [] 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: MONDO:0800031 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)" [PMID:18452192 "DO", PMID:4541805 "DO", PMID: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 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)" [PMID:16473856 "DO", PMID:7545057 "DO", PMID: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: "ITGA6-related condition" BROAD [] 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: MIM:226730 xref: MIM:619817 xref: MONDO:0009183 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", PMID:1372711 "DO", PMID:1717157 "DO", PMID: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)" [PMID: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)" [PMID:18374450 "DO", PMID:8012393 "DO", PMID: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)" [PMID:10792571 "DO", PMID:11810295 "DO", PMID:18374450 "DO", PMID:7550320 "DO", PMID: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 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)" [PMID:5450271 "DO", PMID: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 [] synonym: "HOXA13-related condition" BROAD [] xref: GARD:2594 xref: ICD10CM:Q51.2 xref: MESH:C535627 xref: MIM:140000 xref: MONDO:0007698 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 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)" [PMID:1975493 "DO", PMID:1977311 "DO"] synonym: "MAMM" EXACT [] 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: "MMUT-related condition" BROAD [] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [] xref: ICD10CM:E71.1 xref: MESH:C565390 xref: MIM:251000 xref: MONDO:0009612 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)" [PMID:20524213 "DO"] synonym: "MATR" EXACT [] synonym: "methylmalonic acidemia, TCblR type" EXACT [] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [] synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" EXACT [] xref: MIM:613646 xref: MONDO:0013341 xref: NCI:C183527 xref: ORDO:280183 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060742 name: methylmalonic acidemia cblA type 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)" [PMID:12438653 "DO", PMID:5686220 "DO"] synonym: "cblA methylmalonic acidemia" EXACT [] synonym: "cobalamin A disease" EXACT [] synonym: "MACA" 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 of the cblA complementation 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: "methylmalonic aciduria, 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 [] xref: EFO:0009073 xref: MESH:C537360 xref: MIM:251100 xref: MONDO:0009613 xref: NCI:C142171 xref: ORDO:79310 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060743 name: methylmalonic acidemia cblB type 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)" [PMID:12471062 "DO", PMID:7213387 "DO"] synonym: "cblB methylmalonic acidemia" EXACT [] synonym: "cobalamin B disease" EXACT [] synonym: "MACB" 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 [] synonym: "MMAB-related condition" BROAD [] xref: EFO:0009074 xref: MESH:C537361 xref: MIM:251110 xref: MONDO:0009614 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)" [PMID: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 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)" [PMID:10369267 "DO", PMID: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: MIM:126600 xref: MONDO:0007471 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)" [PMID:18252232 "DO", PMID: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)" [PMID:12393809 "DO", PMID:12843316 "DO", PMID: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" BROAD [] 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)" [PMID:10851389 "DO", PMID:12205652 "DO", PMID: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:3328 ! temporal lobe epilepsy is_a: DOID:535 ! sleep disorder [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)" [PMID:24021842 "DO"] synonym: "ETL6" EXACT [] xref: MIM:615697 xref: ORDO:163717 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe epilepsy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060750 name: familial temporal lobe epilepsy 3 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)" [PMID:17377072 "DO"] synonym: "EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE" EXACT [] synonym: "ETL3" EXACT [] synonym: "FMTLE" EXACT [] synonym: "MDR1 polymorphism" RELATED [] xref: MESH:C566903 xref: MIM:611630 xref: MONDO:0012705 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe 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)" [PMID: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:3328 ! temporal lobe 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)" [PMID: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:3328 ! temporal lobe 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)" [PMID:17460155 "DO", PMID: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:3328 ! temporal lobe epilepsy [Term] id: DOID:0060754 name: familial temporal lobe epilepsy 8 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)" [PMID:25691535 "DO"] synonym: "ETL8" EXACT [] synonym: "GAL-related condition" EXACT [] xref: MIM:616461 xref: MONDO:0014650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe 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)" [PMID:12011300 "DO", PMID:15342703 "DO"] synonym: "ETL2" EXACT [] synonym: "FTLE" EXACT [] xref: MIM:608096 xref: ORDO:98819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3328 ! temporal lobe 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)" [PMID:11179006 "DO"] synonym: "SOST1" EXACT [] synonym: "SOST-related condition" BROAD [] xref: ICD10CM:M85.2 xref: MIM:269500 xref: MONDO:0010016 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)" [PMID: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)" [PMID: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)" [PMID: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 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)" [PMID: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: MIM:608184 xref: MONDO:0011985 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)" [PMID: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)" [PMID:15317753 "DO", PMID: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 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)" [PMID:17172462 "DO", PMID:9326935 "DO"] synonym: "congenital X-linked retinoschisis" EXACT [] synonym: "juvenile retinoschisis, X chromosome-linked" EXACT [] synonym: "RS1" EXACT [] synonym: "RS1-related condition" BROAD [] 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: MONDO:0010725 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)" [PMID:10932186 "DO", PMID: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)" [PMID:25817014 "DO", PMID:26924530 "DO"] synonym: "DRS2" EXACT [] synonym: "DVL1-RELATED CONDITION" 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)" [PMID:19918918 "DO", PMID:24716670 "DO"] synonym: "DRS1" EXACT [] synonym: "WNT5A-RELATED CONDITION" 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)" [PMID: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 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", PMID:16845274 "DO", PMID:21844811 "DO", PMID:6745947 "DO"] synonym: "17p11.2 microdeletion syndrome" EXACT [] synonym: "17p11.2 Monosomy" EXACT [] synonym: "Chromosome 17p11.2 Deletion Syndrome" EXACT [] synonym: "RAI1-related condition" BROAD [] 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: MIM:182290 xref: MONDO:0008434 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", PMID:10206641 "DO", PMID:8911612 "DO"] synonym: "alymphoid cystic thymic dysgenesis" EXACT [] synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" EXACT [] synonym: "FOXN1-RELATED DISORDER" BROAD [] 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)" [PMID: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 has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)" [PMID: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 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)" [PMID:3035184 "DO", PMID: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: "NECTIN1-related condition" BROAD [] 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: MIM:225060 xref: MONDO:0009151 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)" [PMID:22605972 "DO", PMID: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 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)" [PMID: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: MIM:251850 xref: MONDO:0009635 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)" [PMID:18572020 "DO", PMID: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: "EPCAM-RELATED CONDITION" BROAD [] 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)" [PMID:26358773 "DO"] synonym: "congenital sodium diarrhea" EXACT [] synonym: "CSD" EXACT [] synonym: "DIAR8" EXACT [] synonym: "SLC9A3-RELATED CONDITION" 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 early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. (DO)" [PMID:23114594 "DO", PMID:31778854 "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: "DGAT1-related condition" BROAD [] synonym: "DIAR7" EXACT [] synonym: "diarrhea 7" EXACT [] xref: ICD10CM:P78.3 xref: MIM:615863 xref: MONDO:0014375 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 def: "A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO)" [PMID:36149814 "DO"] synonym: "congenital malabsorptive diarrhea 4 with diabetes mellitus and combined pituitary hormone deficiency" EXACT [] synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [] synonym: "congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency" 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: MIM:610370 xref: MONDO:0012479 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)" [PMID: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 [] synonym: "GUCY2C-related condition" BROAD [] xref: MIM:614616 xref: MONDO:0013825 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)" [PMID: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 [] synonym: "SPINT2-RELATED CONDITION" 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)" [PMID:10535733 "DO", PMID: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)" [PMID:1424230 "DO", PMID: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: typical adult-onset autosomal dominant demyelinating leukodystrophy def: "An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK338165/ "DO", PMID:16951681 "DO", PMID:19151023 "DO"] synonym: "ADLD" EXACT [] synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" 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: MIM:169500 xref: MONDO:0008215 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0051015 ! adult onset demyelinating 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)" [PMID:24916848 "DO", PMID:25649058 "DO", PMID: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 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)" [PMID:15192806 "DO", PMID: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: MIM:608804 xref: MONDO:0012125 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)" [PMID:25865492 "DO", PMID:27130255 "DO"] synonym: "HLD10" EXACT [] xref: MIM:616420 xref: MONDO:0014632 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)" [PMID:18571143 "DO"] synonym: "HLD4" EXACT [] synonym: "HSPD1-RELATED CONDITION" BROAD [] 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 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)" [PMID:21092922 "DO", PMID:24958424 "DO"] synonym: "AIMP1-related condition" BROAD [] 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: MIM:260600 xref: MONDO:0009843 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)" [PMID:24777941 "DO"] synonym: "HLD9" EXACT [] synonym: "RARS1-RELATED CONDITION" EXACT [] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [] xref: MIM:616140 xref: MONDO:0014506 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)" [PMID:26151409 "DO"] synonym: "4H leukodystrophy 3" EXACT [] synonym: "HLD11" EXACT [] synonym: "POLR1C-RELATED CONDITION" BROAD [] 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)" [PMID:16951682 "DO", PMID:17683097 "DO"] synonym: "HLD5" EXACT [] synonym: "HYCC1-RELATED CONDITION" 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 alt_id: DOID:9005213 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)" [PMID:12605447 "DO", PMID: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: "Dysmyelinating Leukodystrophy with Oligodontia" 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 CONDITION" BROAD [] 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:C564344 xref: MESH:C567313 xref: MIM:607694 xref: MONDO:0019505 xref: NCI:C210817 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)" [PMID:26545878 "DO"] synonym: "HIKESHI-RELATED CONDITION" EXACT [] synonym: "HLD13" EXACT [] xref: MIM:616881 xref: MONDO:0014813 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)" [PMID:26307567 "DO", PMID:27120463 "DO"] synonym: "HLD12" EXACT [] synonym: "neuroaxonal dystrophy, VPS11-related" EXACT [] synonym: "VPS11-RELATED CONDITION" BROAD [] 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)" [PMID:22036171 "DO", PMID: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 [] synonym: "POLR3B-RELATED CONDITION" BROAD [] 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 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)" [PMID: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 [] synonym: "TUBB4A-related condition" BROAD [] xref: MESH:C567314 xref: MIM:612438 xref: MONDO:0012905 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 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", PMID:15689435 "DO", PMID: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: MIM:300260 xref: MONDO:0010283 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 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)" [PMID:19377476 "DO", PMID:23756445 "DO"] synonym: "AP1S2-related condition" BROAD [] 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: MIM:304340 xref: MONDO:0010574 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)" [PMID:12032729 "DO", PMID:9781023 "DO"] synonym: "Borck type of X-linked syndromic mental retardation" EXACT [] synonym: "EIF2S3-RELATED CONDITION" 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)" [PMID:14508504 "DO", PMID:23696453 "DO"] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE" EXACT [] synonym: "MRXSSR" EXACT [] synonym: "SMS-RELATED CONDITION" 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)" [PMID: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 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)" [PMID: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: MIM:309545 xref: MONDO:0010658 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)" [PMID:1673297 "DO", PMID:3121220 "DO"] synonym: "MRXS2" EXACT [] synonym: "Prieto-Badia-Mulas syndrome" EXACT [] synonym: "Prieto X-linked mental retardation syndrome" EXACT [] synonym: "PRS" EXACT [] synonym: "WNK3-RELATED CONDITION" 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)" [PMID:11782983 "DO", PMID: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)" [PMID:19165920 "DO", PMID:21954287 "DO"] synonym: "CASK-RELATED CONDITION" BROAD [] 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)" [PMID: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)" [PMID:10982473 "DO", PMID:15586325 "DO"] synonym: "KDM5C-related condition" BROAD [] synonym: "MRXS16" EXACT [] synonym: "MRXSCJ" EXACT [] synonym: "MRXSJ" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 16" 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 16" 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)" [PMID:10521307 "DO", PMID: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 CONDITION" 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)" [PMID:18252223 "DO", PMID: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)" [PMID:10398231 "DO", PMID:16199551 "DO"] synonym: "MRXSSD" EXACT [] synonym: "PHF8-RELATED CONDITION" 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)" [PMID:10331611 "DO", PMID: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)" [PMID:1746601 "DO", PMID:25644381 "DO"] synonym: "LAS1L-RELATED CONDITION" EXACT [] 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: Wieacker-Wolff syndrome 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)" [PMID:2018061 "DO"] synonym: "contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [] synonym: "MCS" EXACT [] synonym: "Miles-Carpenter syndrome" 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 (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 CONDITION" EXACT [] synonym: "ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY" EXACT [] xref: MESH:C536703 xref: MIM:314580 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:0080012 ! X-linked recessive disease 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 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)" [PMID: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: MIM:300472 xref: MONDO:0010333 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)" [PMID: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: "NONO-related condition" BROAD [] synonym: "syndromic X-linked intellectual developmental disorder 34" EXACT [] synonym: "syndromic X-linked mental retardation 34" EXACT [] xref: MIM:300967 xref: MONDO:0010501 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)" [PMID: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)" [PMID: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)" [PMID:16909393 "DO", PMID: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: "UBE2A-RELATED CONDITION" 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)" [PMID:17704778 "DO", PMID: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: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 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 Xq24. (DO)" [PMID:10978355 "DO", PMID: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 condition" BROAD [] synonym: "CUL4B-related disorder" BROAD [] 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:C564527 xref: MESH:C567069 xref: MIM:300354 xref: MONDO:0010306 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)" [PMID:17989220 "DO", PMID:19449417 "DO", PMID: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 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)" [PMID:17436253 "DO", PMID: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: MESH:C567586 xref: MIM:300799 xref: MONDO:0010427 xref: ORDO:163953 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060825 name: Christianson syndrome alt_id: DOID:9006932 def: "A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26. (DO)" [PMID:18342287 "DO", PMID:20949524 "DO", PMID:25044251 "DO"] synonym: "Angelman syndrome-like" EXACT [] synonym: "Christianson type of X-linked syndromic intellectual developmental disorder" EXACT [] synonym: "Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome" EXACT [] synonym: "MRXSCH" EXACT [] synonym: "SLC9A6-related condition" BROAD [] synonym: "syndromic X-linked intellectual developmental disorder, Christianson type" EXACT [] synonym: "syndromic X-linked mental retardation, Christianson type" EXACT [] synonym: "X-linked Angelman-like syndrome" 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 [] synonym: "X-Linked mental retardation, South African type" EXACT [] xref: GARD:10572 xref: MESH:C537450 xref: MESH:C567484 xref: MIM:300243 xref: MONDO:0010278 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 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)" [PMID:10677307 "DO", PMID:25256757 "DO"] synonym: "MRXS11" EXACT [] synonym: "MRXSSH" EXACT [] synonym: "orofaciodigital syndrome, Shashi type" EXACT [] synonym: "Shashi type of X-linked syndromic intellectual developmental disorder" 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: MIM:300238 xref: MONDO:0010277 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)" [PMID:10986043 "DO", PMID: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)" [PMID: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)" [PMID: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)" [PMID:12452176 "DO", PMID: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 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)" [PMID:12452176 "DO", PMID: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: "MYO5A-RELATED CONDITION" EXACT [] synonym: "Partial albinism and primary neurologic disease without hemophagocytic syndrome" EXACT [] xref: GARD:2566 xref: MESH:C537301 xref: MIM:214450 xref: MONDO:0008962 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)" [PMID:12452176 "DO", PMID: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 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)" [PMID:12148598 "DO", PMID: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 [] synonym: "MLPH-RELATED CONDITION" EXACT [] xref: GARD:9715 xref: MESH:C537303 xref: MIM:609227 xref: MONDO:0012220 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)" [PMID:15823920 "DO", PMID:21397065 "DO"] synonym: "MCOP6" EXACT [] synonym: "posterior nonsyndromic microphthalmia" EXACT [] synonym: "PRSS56-RELATED CONDITION" 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 def: "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [PMID:19129173 "DO"] synonym: "MCOP4" EXACT [] xref: MESH:C567757 xref: MIM:613094 xref: MONDO:0013130 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)" [PMID:17167404 "DO", PMID:18554571 "DO", PMID: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)" [PMID: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)" [PMID:15257456 "DO", PMID: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)" [PMID: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)" [PMID:23312594 "DO", PMID:23591992 "DO"] synonym: "ALDH1A3-RELATED CONDITION" EXACT [] 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)" [PMID:14662654 "DO", PMID:18783408 "DO"] synonym: "MCOP3" EXACT [] synonym: "RAX-RELATED CONDITION" 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)" [PMID:12682341 "DO", PMID:2540008 "DO", PMID: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)" [PMID:1303235 "DO", PMID:13998843 "DO", PMID: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: "NDP-RELATED DISORDER" BROAD [] 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 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", PMID:10713888 "DO", PMID:21712857 "DO", PMID: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: MIM:127300 xref: MONDO:0007481 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)" [PMID:18469813 "DO", PMID:19752159 "DO", PMID:20830798 "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 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)" [PMID:11719191 "DO", PMID:20034086 "DO", PMID: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: MIM:259770 xref: MONDO:0009820 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 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)" [PMID:1860255 "DO", PMID:677171 "DO"] xref: GARD:705 xref: ICD10CM:Q45.1 xref: MESH:C536376 xref: MIM:167750 xref: MONDO:0008183 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)" [PMID:2217197 "DO", PMID: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)" [PMID:15367484 "DO", PMID:15372515 "DO"] synonym: "congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome" EXACT [] synonym: "LAMB2-RELATED DISORDER" BROAD [] synonym: "LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME" BROAD [] 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)" [PMID:10615134 "DO", PMID: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)" [PMID:10202170 "DO", PMID:10404817 "DO", PMID: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)" [PMID:9662404 "DO"] synonym: "autosomal dominant PHA 1" EXACT [] synonym: "NR3C2-RELATED CONDITION" BROAD [] 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 alt_id: MIM:208530 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)" [PMID:14648004 "DO", PMID:20413652 "DO"] synonym: "asplenia with cardiovascular anomalies" RELATED [] synonym: "Ivemark syndrome" EXACT [] synonym: "right atrial isomerisms" EXACT [] synonym: "right atrial isomerism with asplenia" EXACT [] xref: GARD:6795 xref: ICD10CM:Q20.6 xref: ORDO:97548 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0060857 name: septooptic dysplasia def: "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. (DO)" [PMID:8696006 "DO", PMID:9620767 "DO"] synonym: "De Morsier syndrome" EXACT [] synonym: "HESX1-related condition" BROAD [] synonym: "septo-optic dysplasia" EXACT [] synonym: "septooptic dysplasia, mild" NARROW [] synonym: "septooptic dysplasias" EXACT [] synonym: "septo-optic dysplasia sequence" EXACT [] synonym: "septo optic dysplasia with growth hormone deficiency" EXACT [] synonym: "SOD" EXACT [] xref: GARD:7627 xref: MESH:D025962 xref: MIM:182230 xref: MONDO:0008428 xref: NCI:C85063 xref: ORDO:3157 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0060858 name: hypotonia-cystinuria syndrome alt_id: MIM:606407 def: "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO)" [ORDO:163690 "DO", PMID:11524703 "DO", PMID:16385448 "DO", PMID:18234729 "DO"] synonym: "cystinuria with mitochondrial disease" EXACT [] synonym: "HOMOZYGOUS 2p16 DELETION SYNDROME" NARROW [] synonym: "HOMOZYGOUS 2p21 DELETION SYNDROME" NARROW [] xref: ICD10CM:E72.0 xref: MESH:C564710 xref: ORDO:163690 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9266 ! cystinuria [Term] id: DOID:0060859 name: salmonellosis def: "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. (DO)" [https://www.cdc.gov/salmonella/general/index.html "DO", https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella "DO"] synonym: "salmonella infection" EXACT [] synonym: "salmonella infections" EXACT [] synonym: "salmonelloses" EXACT [] xref: EFO:1001418 xref: ICD10CM:A02.0 xref: ICD9CM:003.0 xref: MESH:D012480 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:0060861 name: microphthalmia with limb anomalies alt_id: MIM:206920 def: "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO)" [PMID:21194678 "DO", PMID:6846395 "DO"] synonym: "anophthalmia-syndactyly" EXACT [] synonym: "anophthalmia-syndactyly syndrome" EXACT [] synonym: "anophthalmia Waardenburg syndrome" EXACT [] synonym: "Anophthalmos-syndactyly" EXACT [] synonym: "anophthalmos with limb anomalies" EXACT [] synonym: "MLA" EXACT [] synonym: "OAS" EXACT [] synonym: "ophthalmoacromelic syndrome" EXACT [] synonym: "SMOC1-RELATED CONDITION" EXACT [] xref: MESH:C537769 xref: ORDO:1106 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0060862 name: mal de Meleda alt_id: DOID:9006003 def: "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO)" [PMID:11285253 "DO", PMID:26139149 "DO", PMID:9887370 "DO"] synonym: "HEREDITARY PALMOPLANTAR KERATODERMA, GAMBORG-NIELSEN TYPE" EXACT [] synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [] synonym: "MDM" EXACT [] synonym: "Meleda disease" EXACT [] synonym: "palmoplantar keratoderma, Gamborg Nielsen type" EXACT [] synonym: "palmoplantar keratoderma, Norrbotten recessive type" EXACT [] synonym: "palmoplantar keratoderma, Norrbotten type" EXACT [] synonym: "PPK, Gamborg-Nielsen type" EXACT [] synonym: "PPKGN" EXACT [] synonym: "PPKNR" EXACT [] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [] xref: GARD:92 xref: ICD10CM:Q82.8 xref: MESH:C565454 xref: MIM:248300 xref: MONDO:0009552 xref: ORDO:86923 xref: ORDO:87503 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3390 ! palmoplantar keratosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060863 name: patterned macular dystrophy def: "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO)" [PMID:22466463 "DO"] synonym: "butterfly dystrophy of retinal pigment epithelium" EXACT [] synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [] synonym: "butterfly-shaped pigment dystrophy of the fovea" EXACT [] synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [] xref: MESH:C536309 xref: MIM:PS169150 xref: MONDO:0020381 xref: ORDO:99001 is_a: DOID:14252 ! dystrophies primarily involving the retinal pigment epithelium is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0060864 name: patterned macular dystrophy 2 def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO)" [PMID:12724643 "DO", PMID:26691986 "DO"] synonym: "butterfly-shaped pigmentary macular dystrophy 2" EXACT [] synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [] synonym: "CTNNA1-related condition" BROAD [] synonym: "MDPT2" EXACT [] xref: MIM:608970 xref: MONDO:0012162 is_a: DOID:0060863 ! patterned macular dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060865 name: patterned macular dystrophy 3 def: "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO)" [PMID:26744326 "DO"] synonym: "MAPKAPK3-RELATED CONDITION" EXACT [] synonym: "MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY" EXACT [] synonym: "MDPT3" EXACT [] xref: MIM:617111 is_a: DOID:0060863 ! patterned macular dystrophy created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:0060866 name: patterned macular dystrophy 1 alt_id: RDO:9004327 def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO)" [PMID:8251014 "DO"] synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [] synonym: "MDPT1" EXACT [] xref: MIM:169150 is_a: DOID:0060863 ! patterned macular dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060867 name: macrocephaly-autism syndrome def: "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)" [PMID:15805158 "DO", PMID:1719811 "DO"] synonym: "autism spectrum disorder (ASD) with macrocephaly" EXACT [] synonym: "autism spectrum disorder and macrocephaly" EXACT [] synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [] xref: MESH:C565342 xref: MIM:605309 xref: MONDO:0011537 xref: ORDO:210548 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12849 ! autistic disorder is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:0060868 name: leukoencephalopathy with vanishing white matter def: "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO)" [https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/ "DO", PMID:11704758 "DO", PMID:11835386 "DO", PMID:15136673 "DO"] synonym: "CACH" EXACT [] synonym: "CACH/VWM" EXACT [] synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [] synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT [] synonym: "ovarioleukodystrophy" NARROW [] synonym: "vanishing white matter leukodystrophy" EXACT [] synonym: "vanishing white matter leukodystrophy with ovarian failure" EXACT [] synonym: "VWM" EXACT [] xref: GARD:231 xref: MESH:C565836 xref: MIM:PS603896 xref: NCI:C122664 xref: ORDO:135 xref: ORDO:157713 xref: ORDO:157716 xref: ORDO:157719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:1100 ! ovarian disease is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0060869 name: late-onset retinal degeneration alt_id: MIM:605670 def: "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO)" [PMID:12944416 "DO"] synonym: "C1QTNF5-RELATED CONDITION" EXACT [] synonym: "late-onset retinal degeneration, autosomal dominant" EXACT [] synonym: "LORD" EXACT [] xref: GARD:4357 xref: MESH:C565309 xref: NCI:C202070 xref: ORDO:67042 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0060870 name: isolated growth hormone deficiency alt_id: OMIA:000307 def: "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)" [PMID:8288694 "DO"] synonym: "congenital IGHD" EXACT [] synonym: "congenital isolated GH deficiency" EXACT [] synonym: "congenital isolated growth hormone deficiency" EXACT [] synonym: "familial isolated growth hormone deficiency" EXACT [] synonym: "GROWTH HORMONE DEFICIENCY" BROAD [] synonym: "Growth Hormone Deficiency Dwarfism" EXACT [] synonym: "Hypophysial Dwarf" EXACT [] synonym: "Hyposomatotrophic Dwarfism" EXACT [] synonym: "IGHD" EXACT [] synonym: "Isolated GH Deficiency" EXACT [] synonym: "Isolated HGH Deficiency" EXACT [] synonym: "Isolated Human Growth Hormone Deficiency" EXACT [] synonym: "Isolated Somatotropin Deficiency" EXACT [] synonym: "Isolated Somatotropin Deficiency Disorder" EXACT [] synonym: "non-acquired isolated growth hormone deficiency" EXACT [] synonym: "Pituitary Dwarf" EXACT [] synonym: "pituitary dwarfism" EXACT [] synonym: "pituitary nanism" EXACT [] xref: EFO:1001109 xref: GARD:12556 xref: ICD9CM:253.3 xref: MESH:D004393 xref: MIM:PS262400 xref: NCI:C34555 xref: ORDO:631 is_a: DOID:9007661 ! Dwarfism is_a: DOID:9007819 ! Endocrine Bone Diseases is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0060871 name: autosomal dominant keratitis-ichthyosis-deafness syndrome def: "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO)" [PMID:11912510 "DO", PMID:11918723 "DO", PMID:3579358 "DO"] synonym: "autosomal dominant KID syndrome" EXACT [] synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" EXACT [] synonym: "KID syndrome" EXACT [] xref: ICD10CM:Q80.8 xref: MESH:C536168 xref: MIM:148210 xref: MONDO:0007850 xref: ORDO:477 is_a: DOID:0111383 ! autosomal dominant keratitis is_a: DOID:9005709 ! Keratitis-Ichthyosis-Deafness Syndrome [Term] id: DOID:0060872 name: isolated growth hormone deficiency type II alt_id: MIM:173100 def: "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)" [PMID:15671105 "DO", PMID:8288694 "DO"] synonym: "congenital IGHD type II" EXACT [] synonym: "congenital isolated GH deficiency type II" EXACT [] synonym: "congenital isolated growth hormone deficiency type II" EXACT [] synonym: "IGHD2" EXACT [] synonym: "IGHD II" EXACT [] synonym: "isolated growth hormone deficiency, autosomal dominant" EXACT [] synonym: "Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant" EXACT [] xref: MESH:C562704 xref: ORDO:231679 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:0060873 name: isolated growth hormone deficiency type IA def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (DO)" [PMID:16060904 "DO", PMID:8288694 "DO"] synonym: "IGHD1A" EXACT [] synonym: "IGHD IA" EXACT [] synonym: "ILLIG-type growth hormone deficiency" EXACT [] synonym: "isolated growth hormone deficiency, autosomal recessive" EXACT [] synonym: "Isolated growth hormone deficiency, type 1b" EXACT [] synonym: "nanism due to growth hormone isolated deficiency" EXACT [] synonym: "Pituitary Dwarfism 1" EXACT [] synonym: "Pituitary Dwarfism I" EXACT [] synonym: "primordial dwarfism" EXACT [] synonym: "sexual ateleiotic dwarfism" EXACT [] xref: MESH:C537404 xref: MIM:262400 xref: MONDO:0009876 xref: ORDO:231662 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:0060874 name: isolated growth hormone deficiency type IB def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO)" [PMID:10678654 "DO", PMID:8288694 "DO", PMID:8528260 "DO"] synonym: "congenital IGHD type IB" EXACT [] synonym: "congenital isolated GH deficiency type IB" EXACT [] synonym: "congenital isolated growth hormone deficiency type IB" EXACT [] synonym: "dwarfism of Sindh" EXACT [] synonym: "GHRHR-RELATED CONDITION" EXACT [] synonym: "idiopathic growth hormone deficiency" EXACT [] synonym: "IGHD1B" EXACT [] synonym: "IGHD IB" EXACT [] xref: MESH:C567564 xref: MIM:612781 xref: MIM:618157 xref: MONDO:0013006 xref: ORDO:231671 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:0060875 name: isolated growth hormone deficiency type III def: "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO)" [PMID:8013627 "DO", PMID:8288694 "DO"] synonym: "BTK-RELATED CONDITION" BROAD [] synonym: "congenital IGHD type III" EXACT [] synonym: "congenital isolated GH deficiency type III" EXACT [] synonym: "congenital isolated growth hormone deficiency type III" EXACT [] synonym: "Fleisher syndrome" EXACT [] synonym: "Growth Hormone Deficiency with Hypogammaglobulinemia" EXACT [] synonym: "Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked" EXACT [] synonym: "IGHD3" EXACT [] synonym: "IGHD III" EXACT [] synonym: "Isolated growth hormone deficiency, type 3" EXACT [] synonym: "Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia" EXACT [] synonym: "X-linked agammaglobulinemia and isolated growth hormone deficiency" EXACT [] synonym: "X-linked agammaglobulinemia with growth hormone deficiency" EXACT [] synonym: "X-linked IGHD" EXACT [] synonym: "X-linked isolated growth hormone deficiency" EXACT [] xref: GARD:3921 xref: MESH:C537149 xref: MIM:307200 xref: MONDO:0010615 xref: ORDO:231692 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0060877 name: bullous congenital ichthyosiform erythroderma def: "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO)" [PMID:4247927 "DO", PMID:7524919 "DO"] synonym: "bullous type ichthyosis" EXACT [] synonym: "bullous type ichthyosis of Siemens" EXACT [] synonym: "bullous type of ichthyosis" EXACT [] synonym: "IBS" EXACT [] synonym: "ichthyosis bullosa of Siemens" EXACT [] synonym: "ichthyosis exfoliativa" NARROW [] synonym: "KRT2-related condition" BROAD [] synonym: "Siemens ichthyosis bullosa" EXACT [] synonym: "superficial epidermolytic ichthyosis" EXACT [] xref: GARD:2966 xref: MESH:D053560 xref: MIM:146800 xref: MONDO:0007813 xref: NCI:C84777 xref: ORDO:455 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060878 name: hypoparathyroidism-deafness-renal disease syndrome alt_id: MIM:146255 def: "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)" [PMID:10935639 "DO", PMID:874665 "DO"] synonym: "Barakat syndrome" EXACT [] synonym: "GATA3-RELATED CONDITION" EXACT [] synonym: "HDR" EXACT [] synonym: "HDRS" EXACT [] synonym: "HDR syndrome" EXACT [] synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [] synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" EXACT [] synonym: "nephrosis, nerve deafness, and hypoparathyroidism" EXACT [] xref: MESH:C537907 xref: NCI:C130983 xref: ORDO:2237 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:2527 ! nephrosis [Term] id: DOID:0060879 name: primary hypomagnesemia alt_id: MESH:C537153 def: "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO)" [PMID:18818955 "DO"] synonym: "defect in renal tubular transport of magnesium" NARROW [] synonym: "familial hypomagnesemia with hypercalciuria and nephrocalcinosis" EXACT [] synonym: "HOMG" EXACT [] synonym: "hypomagnesemia" BROAD [] synonym: "HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING" NARROW [] synonym: "isolated renal hypomagnesemia" NARROW [] synonym: "magnesium deficiencies" EXACT [] synonym: "magnesium deficiency" EXACT [] synonym: "primary familial hypomagnesemia" EXACT [] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" NARROW [] xref: EFO:1001029 xref: MESH:D008275 xref: MIM:PS602014 xref: ORDO:34526 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0060880 name: renal hypomagnesemia 3 def: "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)" [PMID:10390358 "DO", PMID:16501001 "DO"] synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [] synonym: "FHHNC without severe ocular involvement" EXACT [] synonym: "HOMG3" EXACT [] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [] synonym: "renal hypomagnesemia, recessive" RELATED [] synonym: "renal hypomagnesemia type 3" EXACT [] xref: GARD:2906 xref: MIM:248250 xref: MONDO:0009550 xref: ORDO:31043 is_a: DOID:0060879 ! primary hypomagnesemia created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060881 name: renal hypomagnesemia 5 with ocular involvement def: "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO)" [PMID:17033971 "DO"] synonym: "bilateral macular coloboma with hypercalciuria" EXACT [] synonym: "CLDN19-RELATED CONDITION" EXACT [] synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [] synonym: "FHHNC with severe ocular involvement" EXACT [] synonym: "HOMG5" EXACT [] synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [] synonym: "Idiopathic hypercalciuria with bilateral macular colobomata" EXACT [] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [] synonym: "renal hypomagnesemia, recessive" RELATED [] synonym: "renal hypomagnesemia with ocular involvement" EXACT [] xref: MESH:C536148 xref: MESH:C565423 xref: MIM:248190 xref: MONDO:0009548 xref: ORDO:2196 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:1056 ! oculocerebrorenal syndrome is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060882 name: renal hypomagnesemia 4 def: "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO)" [PMID:12584272 "DO", PMID:17671655 "DO"] synonym: "EGF-RELATED CONDITION" EXACT [] synonym: "HOMG4" EXACT [] synonym: "normocalciuric renal hypomagnesemia" EXACT [] synonym: "renal hypomagnesemia, recessive" RELATED [] xref: MESH:C567127 xref: MIM:611718 xref: MONDO:0012717 xref: ORDO:34527 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0060883 name: intestinal hypomagnesemia 1 def: "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO)" [PMID:12032568 "DO", PMID:12032570 "DO", PMID:18818955 "DO"] synonym: "HOMG1" EXACT [] synonym: "HSH" EXACT [] synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [] synonym: "hypomagnesemia intestinal type 1" EXACT [] synonym: "hypomagnesemia with secondary hypocalcemia" EXACT [] synonym: "hypomagnesemic tetany" EXACT [] synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [] synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [] synonym: "TRPM6-related condition" BROAD [] xref: MESH:C566593 xref: MIM:602014 xref: MONDO:0011176 xref: ORDO:30924 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:9009050 ! Hypocalcemia [Term] id: DOID:0060884 name: renal hypomagnesemia 6 def: "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO)" [PMID:21397062 "DO"] synonym: "CNNM2-RELATED CONDITION" BROAD [] synonym: "HOMG6" EXACT [] synonym: "renal hypomagnesemia, dominant" BROAD [] xref: GARD:12155 xref: ICD10CM:E83.4 xref: MIM:613882 xref: MONDO:0013480 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0060885 name: renal hypomagnesemia 2 alt_id: MIM:154020 def: "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO)" [PMID:11062458 "DO", PMID:3298795 "DO"] synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" EXACT [] synonym: "FXYD2-RELATED CONDITION" EXACT [] synonym: "HOMG2" EXACT [] synonym: "magnesium loss, isolated renal" EXACT [] synonym: "magnesium wasting, renal" EXACT [] synonym: "renal hypomagnesemia, dominant" BROAD [] xref: GARD:3350 xref: MESH:C537152 xref: ORDO:34528 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0060886 name: osteopathia striata with cranial sclerosis alt_id: MIM:300373 def: "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO)" [PMID:19079258 "DO"] synonym: "AMER1-RELATED CONDITION" EXACT [] synonym: "hyperostosis generalisata with striations" EXACT [] synonym: "OSCS" EXACT [] synonym: "osteopathia striata cranial sclerosis" EXACT [] synonym: "Robinow-Unger syndrome" EXACT [] xref: MESH:C536053 xref: ORDO:2780 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0060887 name: ossification of the posterior longitudinal ligament of spine alt_id: MIM:602475 def: "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO)" [PMID:27374772 "DO"] synonym: "OPLL" EXACT [] xref: EFO:0005895 xref: GARD:9699 xref: MESH:C537143 is_a: DOID:9003781 ! Ossification of Posterior Longitudinal Ligament [Term] id: DOID:0060888 name: transient myeloproliferative syndrome alt_id: MIM:159595 def: "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759 "DO", PMID:6229618 "DO"] synonym: "MST" EXACT [] synonym: "TAM" EXACT [] synonym: "transient abnormal myelopoiesis" EXACT [] synonym: "transient leukemia" EXACT [] synonym: "transient leukemia of Down syndrome" EXACT [] synonym: "transient myeloproliferative disease" EXACT [] synonym: "transient myeloproliferative disorder of Down syndrome" EXACT [] xref: GARD:12765 xref: ICD10CM:D47.7 xref: MESH:C563551 xref: MESH:C566024 xref: ORDO:420611 is_a: DOID:14250 ! Down syndrome is_a: DOID:2226 ! myeloproliferative neoplasm is_a: DOID:9000933 ! Leukemoid Reaction [Term] id: DOID:0060889 name: prune belly syndrome def: "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO)" [https://en.wikipedia.org/wiki/Prune_belly_syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK544248/ "DO", PMID:15912376 "DO", PMID:22077972 "DO"] synonym: "abdominal muscle deficiency syndrome" EXACT [] synonym: "absence of abdominal muscles with urinary tract abnormality and cryptorchidism" EXACT [] synonym: "CHRM3-related condition" BROAD [] synonym: "congenital absence of the abdominal muscles" EXACT [] synonym: "Eagle-Barrett syndrome" EXACT [] synonym: "EGBRS" EXACT [] synonym: "Obrinsky syndrome" EXACT [] synonym: "PBS" EXACT [] synonym: "prune belly syndromes" EXACT [] synonym: "triad syndrome" EXACT [] xref: GARD:7479 xref: ICD10CM:Q79.4 xref: MESH:D011535 xref: MIM:100100 xref: MONDO:0007032 xref: NCI:C85033 xref: ORDO:2970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060890 name: ectopic Cushing syndrome def: "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. (DO)" [PMID:27387249 "DO"] synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [] synonym: "ectopic ACTH secreting tumor" EXACT [] xref: ICD10CM:E24.3 xref: ORDO:99889 xref: RDO:9003140 is_a: DOID:446 ! primary hyperaldosteronism is_a: DOID:9005158 ! Cushing Syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060891 name: Parkinson's disease 19A def: "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO)" [PMID:22563501 "DO", PMID:23211418 "DO", PMID:26703368 "DO"] synonym: "juvenile onset Parkinson's disease 19A" EXACT [] synonym: "juvenile onset Parkinson disease 19A" EXACT [] synonym: "PARK19" NARROW [] synonym: "PARK19A" EXACT [] synonym: "PARK19B" NARROW [] synonym: "Parkinson's disease 19B, early-onset" NARROW [] synonym: "Parkinson's disease 19, juvenile-onset" EXACT [] synonym: "Parkinson disease 19B, early-onset" NARROW [] synonym: "Parkinson disease 19, juvenile-onset" EXACT [] xref: MIM:615528 xref: NCI:C198608 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060892 name: late onset Parkinson's disease def: "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO)" [PMID:25904081 "DO"] synonym: "ATXN3-RELATED CONDITION" BROAD [] synonym: "EIF4G1-RELATED CONDITION" RELATED [] synonym: "late onset Parkinson disease" EXACT [] synonym: "late onset Parkinson disease, hereditary" EXACT [] synonym: "PARK" NARROW [] synonym: "PARK18" NARROW [] synonym: "PARK24" NARROW [] synonym: "Parkinson's disease 18, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson's disease, late-onset, susceptibility to" RELATED [] synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson disease 24, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson disease, late-onset, susceptibility to" RELATED [] synonym: "PD" EXACT [] xref: MIM:168600 xref: MIM:614251 xref: MIM:619491 xref: MONDO:0008199 xref: ORDO:411602 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:0060893 name: juvenile-onset Parkinson's disease def: "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. (DO)" [PMID:25904081 "DO"] synonym: "juvenile-onset Parkinson disease" EXACT [] is_a: DOID:0060894 ! early-onset Parkinson's disease created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0060894 name: early-onset Parkinson's disease def: "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. (DO)" [PMID:25904081 "DO"] synonym: "early-onset Parkinson disease" EXACT [] synonym: "Young-onset Parkinson disease" EXACT [] xref: MONDO:0017279 xref: ORDO:2828 xref: ORDO:391411 is_a: DOID:14330 ! Parkinson's disease created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0060895 name: Parkinson's disease 4 def: "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO)" [PMID:14755720 "DO", PMID:17251522 "DO"] synonym: "autosomal dominant Lewy body Parkinson's disease 4" EXACT [] synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [] synonym: "autosomal dominant Parkinson's disease 4" EXACT [] synonym: "autosomal dominant Parkinson disease 4" EXACT [] synonym: "PARK4" EXACT [] xref: MESH:C565324 xref: MIM:605543 xref: MONDO:0011562 xref: NCI:C198604 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease is_a: DOID:12217 ! Lewy body dementia [Term] id: DOID:0060896 name: Parkinson's disease 23 def: "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO)" [PMID:26942284 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 23" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT [] synonym: "PARK23" EXACT [] synonym: "VPS13C-RELATED CONDITION" EXACT [] xref: ICD10CM:G20 xref: MIM:616840 xref: MONDO:0014796 xref: NCI:C203536 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060897 name: Parkinson's disease 17 def: "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO)" [PMID:21763483 "DO"] synonym: "autosomal dominant Parkinson disease 17" EXACT [] synonym: "PARK17" EXACT [] synonym: "Parkinson disease 17" EXACT [] synonym: "VPS35-RELATED CONDITION" EXACT [] xref: MIM:614203 xref: MONDO:0013625 xref: NCI:C201520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060898 name: Parkinson's disease 20 alt_id: RDO:9000983 def: "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)" [PMID:23804563 "DO", PMID:23804577 "DO"] synonym: "early-onset Parkinson's disease 20" EXACT [] synonym: "early-onset Parkinson disease 20" EXACT [] synonym: "PARK20" EXACT [] xref: MIM:615530 xref: NCI:C203535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060900 name: Parkinson's disease 14 def: "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)" [PMID:18570303 "DO"] synonym: "adult-onset dystonia-parkinsonism" BROAD [] synonym: "autosomal recessive Parkinson's disease 14" EXACT [] synonym: "autosomal recessive Parkinson disease 14" EXACT [] synonym: "PARK14" EXACT [] xref: MESH:C567844 xref: MIM:612953 xref: MONDO:0013060 xref: NCI:C201519 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060892 ! late onset Parkinson's disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060901 name: lymphoplasmacytic lymphoma alt_id: DOID:0050747 def: "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO)" [PMID:10632755 "DO"] synonym: "familial Waldenstrom's macroglobulinaemia" EXACT [] synonym: "familial Waldenstrom macroglobulinaemia" EXACT [] synonym: "familial Waldenstrom macroglobulinemia" EXACT [] synonym: "familial Waldenstroms macroglobulinaemia" EXACT [] synonym: "immunocytoma" EXACT [] synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [] synonym: "Waldenstroem's macroglobulinemia" EXACT [] synonym: "Waldenstrom's Macroglobulinaemia" EXACT [] synonym: "Waldenstrom's macroglobulinemia" EXACT [] synonym: "Waldenstrom Macroglobulinaemia" EXACT [] synonym: "Waldenstrom macroglobulinemia" EXACT [] synonym: "Waldenstrom macroglobulinemia, somatic" RELATED [] synonym: "Waldenstrom macroglobulinemia, susceptibility to, 1" RELATED [] synonym: "Waldenstrom macroglobulinemia, susceptibility to, 2" RELATED [] synonym: "Waldenstroms macroglobulinaemia" EXACT [] synonym: "Waldenstroms macroglobulinemia" EXACT [] synonym: "WM1" RELATED [] synonym: "WM2" RELATED [] xref: EFO:0009441 xref: GARD:7872 xref: ICD10CM:C88.0 xref: ICD9CM:273.3 xref: ICDO:9671/3 xref: MESH:D008258 xref: MIM:153600 xref: MIM:610430 xref: MIM:PS153600 xref: MONDO:0000432 xref: NCI:C115212 xref: NCI:C3212 xref: NCI:C80307 xref: ORDO:33226 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:6536 ! plasma cell neoplasm is_a: DOID:707 ! B-cell lymphoma is_a: DOID:9003571 ! Paraproteinemias is_a: DOID:9080 ! macroglobulinemia [Term] id: DOID:0060902 name: Norman-Roberts syndrome alt_id: MIM:257320 alt_id: RDO:0003758 def: "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO)" [PMID:10973257 "DO", PMID:15083694 "DO"] synonym: "LIS2" EXACT [] synonym: "lissencephaly 2" EXACT [] synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT [] synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [] synonym: "Norman Roberts lissencephaly syndrome" EXACT [] synonym: "RELN-RELATED CONDITION" BROAD [] xref: MESH:C537848 xref: ORDO:89844 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060903 name: thrombosis def: "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO)" [https://en.wikipedia.org/wiki/Thrombosis "DO"] synonym: "Blood Clot" EXACT [] synonym: "Blood Clots" EXACT [] synonym: "Thromboses" EXACT [] synonym: "Thrombus" EXACT [] xref: MESH:D013927 is_a: DOID:178 ! vascular disease is_a: DOID:9001268 ! Embolism and Thrombosis [Term] id: DOID:0060904 name: legume allergy def: "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. (DO)" [https://en.wikipedia.org/wiki/Legume "DO"] synonym: "Fabaceae allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060911 name: karyomegalic interstitial nephritis def: "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)" [PMID:16678356 "DO", PMID:22772369 "DO"] synonym: "FAN1-RELATED CONDITION" EXACT [] synonym: "KIN" EXACT [] synonym: "KMIN" EXACT [] xref: GARD:11003 xref: ICD10CM:N11.8 xref: MIM:614817 xref: NCI:C173626 xref: ORDO:401996 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:0060912 name: craniosynostosis 7 alt_id: DOID:9000082 def: "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. (DO)" [PMID:23438589 "DO"] synonym: "craniosynostosis 7, digenic" EXACT [] synonym: "Craniosynostosis 7, susceptibility to" RELATED [] synonym: "CRS7" EXACT [] synonym: "CRS7, DIGENIC" EXACT [] xref: MIM:617439 is_a: DOID:0080578 ! digenic disease is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2023-11-30T13:38:11Z [Term] id: DOID:0060913 name: proteosome-associated autoinflammatory syndrome alt_id: DOID:9004752 def: "An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. (DO)" [PMID:25521013 "DO"] synonym: "proteasome-associated autoinflammatory syndromes" EXACT [] xref: MIM:PS256040 xref: MONDO:0009726 xref: ORDO:324977 is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:811 ! lipodystrophy is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2023-11-30T13:29:04Z [Term] id: DOID:0060914 name: proteosome-associated autoinflammatory syndrome 2 alt_id: DOID:9009201 def: "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. (DO)" [PMID:29805043 "DO"] synonym: "POMP-RELATED CONDITION" EXACT [] synonym: "PRAAS2" EXACT [] xref: MIM:618048 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: mtutaj creation_date: 2023-11-30T13:45:38Z [Term] id: DOID:0060915 name: proteosome-associated autoinflammatory syndrome 4 alt_id: DOID:9003015 def: "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO)" [PMID:30664889 "DO"] synonym: "PRAAS4" EXACT [] synonym: "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4" EXACT [] synonym: "PSMG2-RELATED CONDITION" EXACT [] xref: MIM:619183 xref: MONDO:0030931 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: mtutaj creation_date: 2023-11-30T13:45:58Z [Term] id: DOID:0060916 name: proteosome-associated autoinflammatory syndrome 3 alt_id: DOID:9009202 def: "An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM)" [] synonym: "PRAAS3" EXACT [] synonym: "proteosome-associated autoinflammatory syndrome 3, digenic" EXACT [] synonym: "PSMB4-RELATED CONDITION" EXACT [] xref: MIM:617591 xref: MONDO:0054699 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome is_a: DOID:0080578 ! digenic disease created_by: mtutaj creation_date: 2023-11-30T13:46:11Z [Term] id: DOID:0060917 name: facioscapulohumeral muscular dystrophy 3 alt_id: DOID:9005731 def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [PMID:32467133 "DO"] synonym: "facioscapulohumeral muscular dystrophy 3, digenic" EXACT [] synonym: "facioscapulohumeral muscular dystrophy type 3" EXACT [] synonym: "FSHD3" EXACT [] xref: MIM:619477 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy created_by: mtutaj creation_date: 2023-11-30T14:05:40Z [Term] id: DOID:0060918 name: facioscapulohumeral muscular dystrophy 4 alt_id: DOID:9002013 def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [PMID:27153398 "DO"] synonym: "facioscapulohumeral muscular dystrophy 4, digenic" EXACT [] synonym: "facioscapulohumeral muscular dystrophy type 4" EXACT [] synonym: "FSHD4" EXACT [] xref: MIM:619478 xref: MONDO:0030355 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy created_by: mtutaj creation_date: 2023-11-30T14:05:57Z [Term] id: DOID:0060919 name: proteosome-associated autoinflammatory syndrome 5 alt_id: DOID:9009033 def: "A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO)" [PMID:31783057 "DO"] synonym: "PRAAS5" EXACT [] synonym: "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5" EXACT [] xref: MIM:619175 xref: MONDO:0030924 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: mtutaj creation_date: 2023-11-30T13:52:40Z [Term] id: DOID:0060920 name: otosclerosis 1 alt_id: DOID:9008430 def: "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. (DO)" [PMID:9425236 "DO"] synonym: "OTSC1" EXACT [] xref: MIM:166800 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:18:53Z [Term] id: DOID:0060921 name: otosclerosis 2 alt_id: DOID:9001381 alt_id: MIM:605727 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. (DO)" [PMID:11170898 "DO"] synonym: "OTSC2" EXACT [] xref: MESH:C565302 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:21:12Z [Term] id: DOID:0060922 name: otosclerosis 3 alt_id: DOID:9004993 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. (DO)" [PMID:17568407 "DO"] synonym: "OTSC3" EXACT [] xref: MESH:C564268 xref: MIM:608244 xref: MONDO:0011999 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:23:02Z [Term] id: DOID:0060923 name: otosclerosis 4 alt_id: DOID:9001658 alt_id: MIM:611571 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. (DO)" [PMID:16618911 "DO"] synonym: "OTSC4" EXACT [] xref: MESH:C566914 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:24:16Z [Term] id: DOID:0060924 name: otosclerosis 5 alt_id: DOID:9004280 alt_id: MIM:608787 def: "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. (DO)" [PMID:15173231 "DO"] synonym: "OTSC5" EXACT [] xref: MESH:C563858 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:25:38Z [Term] id: DOID:0060925 name: otosclerosis 7 alt_id: DOID:9003581 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO)" [PMID:17213839 "DO"] synonym: "OTSC7" EXACT [] xref: MESH:C566913 xref: MIM:611572 xref: MONDO:0012697 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:26:52Z [Term] id: DOID:0060926 name: otosclerosis 8 alt_id: DOID:9002286 alt_id: MIM:612096 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. (DO)" [PMID:17568407 "DO"] synonym: "OTSC8" EXACT [] xref: MESH:C567421 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:28:09Z [Term] id: DOID:0060927 name: otosclerosis 10 alt_id: DOID:9009114 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. (DO)" [PMID:21470211 "DO"] synonym: "OTSC10" EXACT [] xref: MIM:615589 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:29:40Z [Term] id: DOID:0060928 name: otosclerosis 11 alt_id: DOID:9008970 def: "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. (DO)" [PMID:34633540 "DO"] synonym: "OTSC11" EXACT [] xref: MIM:620576 xref: MONDO:0957928 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:31:29Z [Term] id: DOID:0060929 name: non-syndromic X-linked intellectual developmental disorder 111 alt_id: DOID:9007793 def: "A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. (DO)" [PMID:35840571 "DO"] synonym: "SLITRK2-RELATED CONDITION" EXACT [] synonym: "XLID111" EXACT [] synonym: "X-Linked Intellectual Developmental Disorder 111" EXACT [] xref: MIM:301107 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2023-12-20T20:32:46Z [Term] id: DOID:0060930 name: developmental dysplasia of the hip def: "A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO)" [PMID:11246461 "DO"] synonym: "acetabular dysplasia" EXACT [] synonym: "DDH" EXACT [] synonym: "developmental hip dysplasia" EXACT [] xref: EFO:1000648 xref: MESH:D000082602 xref: MIM:PS142700 xref: MONDO:0000158 is_a: DOID:0080006 ! bone development disease is_a: DOID:9005560 ! Congenital Hip Dislocation created_by: mtutaj creation_date: 2024-01-31T10:29:38Z [Term] id: DOID:0060931 name: developmental dysplasia of the hip 1 alt_id: DOID:9004340 def: "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. (DO)" [PMID:11246461 "DO", PMID:16773577 "DO"] synonym: "DDH1" EXACT [] xref: MIM:142700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060930 ! developmental dysplasia of the hip created_by: mtutaj creation_date: 2024-01-31T10:29:54Z [Term] id: DOID:0060932 name: developmental dysplasia of the hip 2 alt_id: DOID:9001838 def: "A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. (DO)" [PMID:23716478 "DO"] synonym: "DDH2" EXACT [] xref: MIM:615612 xref: MONDO:0014277 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060930 ! developmental dysplasia of the hip created_by: mtutaj creation_date: 2024-01-31T10:30:06Z [Term] id: DOID:0060933 name: developmental delay, dysmorphic facies, and brain anomalies alt_id: DOID:9003387 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO)" [PMID:34112922 "DO", PMID:37134193 "DO", PMID:37962958 "DO"] synonym: "DEVDFB" EXACT [] xref: MIM:620535 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2024-02-28T16:10:10Z [Term] id: DOID:0060934 name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy alt_id: DOID:9009122 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. (DO)" [PMID:28626029 "DO", PMID:31687267 "DO", PMID:35150401 "DO", PMID:37713627 "DO"] synonym: "NEDMEBA" EXACT [] synonym: "TRAPPC6B-RELATED CONDITION" EXACT [] synonym: "TRAPPC6B-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:617862 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2024-02-28T16:15:10Z [Term] id: DOID:0060935 name: infantile hypotonia with psychomotor retardation and characteristic facies-3 alt_id: DOID:9006056 def: "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. (DO)" [PMID:27040691 "DO", PMID:27040692 "DO", PMID:30103036 "DO"] synonym: "IHPRF3" EXACT [] synonym: "SYNDROMIC INFANTILE ENCEPHALOPATHY" EXACT [] synonym: "TBCK-RELATED CONDITION" EXACT [] synonym: "TBCK-RELATED DISORDERS" EXACT [] synonym: "TBCK-related intellectual disability syndrome" EXACT [] xref: MIM:616900 xref: ORDO:488632 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies created_by: mtutaj creation_date: 2024-02-28T16:18:17Z [Term] id: DOID:0060936 name: dystonia 28, childhood-onset alt_id: DOID:9004049 def: "A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. (DO)" [PMID:27839873 "DO", PMID:27992417 "DO"] synonym: "DYT28" EXACT [] synonym: "KMT2B-related condition" BROAD [] xref: EFO:0009301 xref: ICD10CM:G24.8 xref: MIM:617284 xref: MONDO:0015004 xref: ORDO:589618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:41:35Z [Term] id: DOID:0060937 name: dystonia 30 alt_id: DOID:9008352 def: "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO)" [PMID:27174565 "DO", PMID:32808683 "DO"] synonym: "DYT30" EXACT [] synonym: "VPS16-associated disorder" EXACT [] synonym: "VPS16-related condition" EXACT [] xref: MIM:619291 xref: MONDO:0025691 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:44:19Z [Term] id: DOID:0060938 name: dystonia 31 alt_id: DOID:9004381 def: "A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. (DO)" [PMID:34596301 "DO"] synonym: "DYT31" EXACT [] synonym: "Zech-Boesch syndrome" EXACT [] xref: MIM:619565 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:44:33Z [Term] id: DOID:0060939 name: dystonia 32 alt_id: DOID:9000126 def: "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)" [PMID:33452836 "DO"] synonym: "DYT32" EXACT [] synonym: "VPS11-RELATED CONDITION" BROAD [] xref: MIM:619637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:44:50Z [Term] id: DOID:0060940 name: dystonia 33 alt_id: DOID:9007930 def: "A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. (DO)" [PMID:33236446 "DO"] synonym: "DYT33" EXACT [] xref: MIM:619687 xref: MONDO:0030513 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:50:37Z [Term] id: DOID:0060941 name: interstitial lung disease 1 alt_id: DOID:9002918 def: "An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. (DO)" [https://academic.oup.com/hmg/article/25/8/1457/2384565 "DO", PMID:30854216 "DO"] synonym: "ILD1" EXACT [] synonym: "SFTPA1-RELATED CONDITION" EXACT [] xref: MIM:619611 xref: MONDO:0030608 xref: ORDO:2032 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3082 ! interstitial lung disease created_by: mtutaj creation_date: 2024-04-30T17:01:48Z [Term] id: DOID:0060942 name: Ullrich congenital muscular dystrophy 1B alt_id: DOID:9005971 def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)" [PMID:23622361 "DO"] synonym: "UCMD1A/1B, DIGENIC" RELATED [] synonym: "UCMD1B" EXACT [] synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC" RELATED [] xref: MIM:620727 xref: MONDO:0958235 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-04-30T17:05:05Z [Term] id: DOID:0060943 name: Ullrich congenital muscular dystrophy 1C alt_id: DOID:9006954 def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO)" [PMID:23622361 "DO"] synonym: "UCMD1C" EXACT [] xref: MIM:620728 xref: MONDO:0958236 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-04-30T17:27:06Z [Term] id: DOID:0060944 name: episodic kinesigenic dyskinesia 3 alt_id: DOID:9008127 def: "A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO)" [PMID:34518509 "DO"] synonym: "EKD3" EXACT [] xref: MIM:620245 xref: MONDO:0859380 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:51:11Z [Term] id: DOID:0060945 name: amelogenesis imperfecta type 1K alt_id: DOID:9002275 def: "An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. (DO)" [PMID:33652941 "DO"] synonym: "AI1K" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK" EXACT [] synonym: "Amelogenesis imperfecta, type IK" EXACT [] xref: MIM:620104 xref: MONDO:0031084 is_a: DOID:2187 ! amelogenesis imperfecta created_by: mtutaj creation_date: 2024-05-01T10:27:46Z [Term] id: DOID:0060946 name: Ullrich congenital muscular dystrophy 1A alt_id: DOID:9000534 def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO)" [PMID:23622361 "DO"] synonym: "COL6A1-RELATED CONDITION" BROAD [] synonym: "UCMD1" RELATED [] synonym: "UCMD1A" EXACT [] synonym: "UCMD1A/1B, DIGENIC" RELATED [] synonym: "Ullrich congenital muscular dystrophy 1" RELATED [] synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC" RELATED [] synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT" NARROW [] xref: MIM:254090 xref: MONDO:0009681 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-05-01T10:57:12Z [Term] id: DOID:0060947 name: autosomal recessive intellectual developmental disorder 82 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO)" [PMID:37226891 "DO"] xref: MIM:620779 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2024-05-01T11:00:09Z [Term] id: DOID:0060948 name: Ullrich congenital muscular dystrophy 2 def: "An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO)" [PMID:24334604 "DO"] synonym: "COL12A1-related condition" BROAD [] synonym: "COL12A1-related disorder" BROAD [] synonym: "UCMD2" EXACT [] xref: MIM:616470 xref: MONDO:0014654 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-06-18T13:13:32Z [Term] id: DOID:0060949 name: 3-hydroxyisobutryl-CoA hydrolase deficiency alt_id: DOID:9008784 def: "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. (DO)" [PMID:24299452 "DO"] synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [] synonym: "Beta-Hydroxyisobutyryl CoA Deacylase Deficiency" EXACT [] synonym: "HIBCHD" EXACT [] synonym: "HIBCH Deficiency" EXACT [] synonym: "Methacrylic Acid Toxicity" EXACT [] synonym: "Methacrylic Aciduria" EXACT [] synonym: "NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY" EXACT [] synonym: "valine metabolic defect" EXACT [] xref: GARD:13202 xref: MESH:C562803 xref: MIM:250620 xref: MONDO:0009603 xref: ORDO:88639 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-18T13:25:53Z [Term] id: DOID:0060950 name: hypervalinemia and hyperleucine-isoleucinemia alt_id: DOID:9000861 def: "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO)" [PMID:25653144 "DO"] synonym: "BCAT2-RELATED CONDITION" EXACT [] synonym: "branched-chain aminotransferase 2 deficiency" EXACT [] synonym: "BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY" EXACT [] synonym: "HVLI" EXACT [] xref: MIM:618850 xref: MONDO:0100058 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008211 ! Valinemia created_by: mtutaj creation_date: 2024-06-18T13:44:32Z [Term] id: DOID:0060951 name: polycystic kidney disease 6 alt_id: DOID:9009199 def: "An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO)" [PMID:29706351 "DO"] synonym: "DNAJB11-RELATED CONDITION" EXACT [] synonym: "PKD6" EXACT [] synonym: "Polycystic Kidney Disease 6 with or without Polycystic Liver Disease" EXACT [] xref: MIM:618061 xref: MONDO:0054842 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: mtutaj creation_date: 2024-06-18T13:48:12Z [Term] id: DOID:0060952 name: polycystic kidney disease 7 alt_id: DOID:9006011 def: "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO)" [PMID:35896117 "DO"] synonym: "ALG5-RELATED DISORDER" EXACT [] synonym: "PKD7" EXACT [] xref: MIM:620056 xref: MONDO:0031062 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: mtutaj creation_date: 2024-06-18T13:54:14Z [Term] id: DOID:0060953 name: ZTTK syndrome alt_id: DOID:9005698 def: "A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. (DO)" [PMID:27545680 "DO"] synonym: "SON-RELATED CONDITION" EXACT [] synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" EXACT [] synonym: "ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT [] synonym: "ZTTKS" EXACT [] xref: GARD:13489 xref: MIM:617140 xref: MONDO:0014936 xref: ORDO:500150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2024-06-18T13:57:23Z [Term] id: DOID:0060954 name: Holoprosencephaly 13, X-linked alt_id: DOID:9008492 def: "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO)" [PMID:31334757 "DO"] synonym: "Holoprosencephaly 13" EXACT [] synonym: "HPE13" EXACT [] synonym: "STAG2-RELATED CONDITION" BROAD [] synonym: "STAG2-related disorder" BROAD [] xref: MIM:301043 xref: MONDO:0026763 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4621 ! holoprosencephaly created_by: mtutaj creation_date: 2024-06-18T14:00:11Z [Term] id: DOID:0060955 name: dystonia 35, childhood-onset alt_id: DOID:9007245 def: "A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO)" [PMID:34542157 "DO"] synonym: "DYT35" EXACT [] xref: MIM:619921 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:54:08Z [Term] id: DOID:0060956 name: dystonia 37, early-onset with striatal lesions alt_id: DOID:9004848 def: "A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO)" [PMID:36333996 "DO"] synonym: "DYT37" EXACT [] xref: MIM:620427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:55:26Z [Term] id: DOID:0060957 name: myoclonic dystonia 34 alt_id: DOID:9004834 def: "A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO)" [PMID:32212350 "DO"] synonym: "DYT34" EXACT [] synonym: "KCNN2-RELATED CONDITION" BROAD [] xref: MIM:619724 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia created_by: mtutaj creation_date: 2024-04-01T10:56:56Z [Term] id: DOID:0060958 name: orofaciodigital syndrome XIV alt_id: DOID:9002841 def: "An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO)" [PMID:24997988 "DO"] synonym: "C2CD3-RELATED CONDITION" EXACT [] synonym: "OFD14" EXACT [] synonym: "orofaciodigital syndrome 14" EXACT [] xref: GARD:13655 xref: MIM:615948 xref: MONDO:0014413 xref: ORDO:434179 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:38:04Z [Term] id: DOID:0060959 name: orofaciodigital syndrome II alt_id: DOID:9003244 def: "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [PMID:27530628 "DO"] synonym: "Mohr Syndrome" EXACT [] synonym: "Oral-facial-digital syndrome, type 2" EXACT [] synonym: "Oral Facial Digital Syndrome, Type II" EXACT [] synonym: "orofaciodigital syndrome 2" EXACT [] xref: GARD:3701 xref: MESH:C538585 xref: MIM:252100 xref: MONDO:0009642 xref: ORDO:2751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:41:49Z [Term] id: DOID:0060960 name: orofaciodigital syndrome XIX alt_id: DOID:9000935 def: "An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO)" [PMID:36084634 "DO"] synonym: "OFD19" EXACT [] synonym: "OFDS XIX" EXACT [] synonym: "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX" EXACT [] xref: MIM:620107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:45:39Z [Term] id: DOID:0060961 name: orofaciodigital syndrome XVIII alt_id: DOID:9006510 def: "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO)" [PMID:27060890 "DO"] synonym: "IFT57-RELATED CONDITION" EXACT [] synonym: "OFD18" EXACT [] synonym: "OFDS XVIII" EXACT [] synonym: "Oral-facial-digital syndrome type 18" EXACT [] synonym: "Oral-facial-digital syndrome, type XVIII" EXACT [] synonym: "Oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT [] synonym: "orofaciodigital syndrome 18" EXACT [] synonym: "Orofaciodigital syndrome type 18" EXACT [] xref: MIM:617927 xref: MONDO:0054770 xref: ORDO:508501 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:50:14Z [Term] id: DOID:0060962 name: orofaciodigital syndrome XX alt_id: DOID:9009195 def: "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO)" [PMID:37384395 "DO"] synonym: "OFD20" EXACT [] xref: MIM:620718 xref: MONDO:0958230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:54:26Z [Term] id: DOID:0060964 name: Loeys-Dietz syndrome 6 alt_id: DOID:9006321 def: "A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. (DO)" [PMID:30157302 "DO"] synonym: "LDS6" EXACT [] synonym: "SMAD2-RELATED CONDITION" BROAD [] xref: MIM:619656 xref: MONDO:0030500 is_a: DOID:0050466 ! Loeys-Dietz syndrome created_by: mtutaj creation_date: 2024-06-18T15:23:37Z [Term] id: DOID:0060965 name: episodic ataxia type 9 alt_id: DOID:9006425 def: "An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. (DO)" [PMID:30928199 "DO"] synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "EA9" EXACT [] synonym: "SCN2A-related disorder" BROAD [] xref: MIM:618924 xref: MONDO:0030064 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:963 ! episodic ataxia created_by: mtutaj creation_date: 2024-06-18T15:47:37Z [Term] id: DOID:0060966 name: dystonia 22, juvenile-onset alt_id: DOID:9000446 def: "A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. (DO)" [PMID:33539324 "DO"] synonym: "dystonia 22" BROAD [] synonym: "DYT22" BROAD [] synonym: "DYT22JO" EXACT [] synonym: "TSPOAP1-RELATED DISORDER" BROAD [] xref: MIM:620453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T11:16:44Z [Term] id: DOID:0060967 name: dystonia 22, adult-onset alt_id: DOID:9004025 def: "A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO)" [PMID:33539324 "DO"] synonym: "DYT22AO" EXACT [] synonym: "TSPOAP1-RELATED DISORDER" BROAD [] xref: MIM:620456 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T11:18:50Z [Term] id: DOID:0060968 name: hypotrichosis 15 alt_id: DOID:9001132 def: "A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. (DO)" [PMID:32336749 "DO"] synonym: "HYPT15" EXACT [] xref: MIM:620177 xref: MONDO:0859341 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis created_by: mtutaj creation_date: 2024-06-21T09:48:07Z [Term] id: DOID:0060969 name: galactosemia 4 alt_id: DOID:9004085 def: "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. (DO)" [PMID:30451973 "DO"] synonym: "GALAC4" EXACT [] synonym: "galactosemia IV" EXACT [] synonym: "galactosemia type 4" EXACT [] synonym: "galactose mutarotase deficiency" EXACT [] synonym: "GALM deficiency" EXACT [] synonym: "GALM-RELATED CONDITION" EXACT [] xref: MIM:618881 xref: MONDO:0030105 xref: ORDO:570422 is_a: DOID:9870 ! galactosemia created_by: mtutaj creation_date: 2024-06-21T09:50:33Z [Term] id: DOID:0060970 name: Cornelia de Lange syndrome 6 alt_id: DOID:9006093 def: "A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO)" [PMID:16604071 "DO"] synonym: "BRD4-RELATED CONDITION" BROAD [] synonym: "CDLS6" EXACT [] xref: MIM:620568 xref: MONDO:0957921 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome created_by: mtutaj creation_date: 2024-06-21T09:54:26Z [Term] id: DOID:0060971 name: interstitial lung disease 2 def: "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO)" [PMID:32855221 "DO"] synonym: "ILD2" EXACT [] synonym: "MUC5B-RELATED DISORDER" RELATED [] xref: MIM:178500 xref: MONDO:0800029 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3082 ! interstitial lung disease created_by: mtutaj creation_date: 2024-06-28T14:21:30Z [Term] id: DOID:0060972 name: renal hypomagnesemia 7, with or without dilated cardiomyopathy def: "A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. (DO)" [PMID:34607910 "DO"] synonym: "HOMG7" EXACT [] synonym: "HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY" NARROW [] synonym: "RRAGD-RELATED CONDITION" EXACT [] xref: DOID:9005972 xref: MIM:620152 xref: MONDO:0859328 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2024-06-28T15:58:26Z [Term] id: DOID:0060973 name: WHIM syndrome 2 alt_id: DOID:9006180 def: "An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. (DO)" [PMID:24777453 "DO"] synonym: "CXCR2-RELATED CONDITION" EXACT [] synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2" EXACT [] synonym: "WHIMS2" EXACT [] xref: MIM:619407 xref: MONDO:0030374 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004715 ! WHIM Syndrome created_by: mtutaj creation_date: 2024-06-28T16:03:47Z [Term] id: DOID:0060974 name: autosomal recessive Robinow syndrome 2 alt_id: DOID:9007716 def: "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. (DO)" [PMID:29276006 "DO"] synonym: "NXN-RELATED CONDITION" EXACT [] synonym: "RRS2" EXACT [] xref: MIM:618529 xref: MONDO:0032800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060254 ! Robinow syndrome created_by: mtutaj creation_date: 2024-06-28T16:13:30Z [Term] id: DOID:0060975 name: polycystic liver disease 2 alt_id: DOID:9006964 def: "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. (DO)" [PMID:24886261 "DO"] synonym: "PCLD2" EXACT [] synonym: "polycystic liver disease 2 with or without kidney cysts" EXACT [] synonym: "SEC63-RELATED CONDITION" EXACT [] xref: MIM:617004 xref: MONDO:0014860 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-06-28T16:17:28Z [Term] id: DOID:0060976 name: polycystic liver disease 3 alt_id: DOID:9009126 def: "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. (DO)" [PMID:28375157 "DO"] synonym: "ALG8-RELATED DISORDER" BROAD [] synonym: "PCLD3" EXACT [] synonym: "polycystic liver disease 3 with or without kidney cysts" EXACT [] xref: MIM:617874 xref: MONDO:0054743 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-06-28T16:24:56Z [Term] id: DOID:0060977 name: polycystic liver disease 4 alt_id: DOID:9009127 def: "A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [PMID:24706814 "DO"] synonym: "PCLD4" EXACT [] synonym: "POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS" NARROW [] synonym: "polycystic liver disease 4 with or without kidney cysts" EXACT [] xref: MIM:617875 xref: MONDO:0044327 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-06-28T16:25:11Z [Term] id: DOID:0060978 name: Fanconi anemia complementation group W alt_id: DOID:9009064 def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. (DO)" [PMID:28691929 "DO"] synonym: "FANCW" EXACT [] synonym: "RFWD3-RELATED CONDITION" EXACT [] xref: MIM:617784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia created_by: mtutaj creation_date: 2024-07-31T14:36:37Z [Term] id: DOID:0060979 name: Fanconi anemia complementation group S alt_id: DOID:9004232 def: "A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. (DO)" [PMID:29133208 "DO"] synonym: "FANCS" EXACT [] xref: MIM:617883 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia created_by: mtutaj creation_date: 2024-07-31T14:39:51Z [Term] id: DOID:0060980 name: polycystic liver disease 1 alt_id: DOID:9001771 def: "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. (DO)" [PMID:24886261 "DO"] synonym: "Isolated autosomal dominant polycystic liver disease" EXACT [] synonym: "Isolated polycystic liver disease" EXACT [] synonym: "PCLD1" EXACT [] synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [] synonym: "PRKCSH-RELATED CONDITION" EXACT [] xref: MIM:174050 xref: MONDO:0008265 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-07-31T14:42:17Z [Term] id: DOID:0060981 name: mosaic variegated aneuploidy syndrome 4 alt_id: DOID:9007689 def: "A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. (DO)" [PMID:34009673 "DO"] synonym: "MVA4" EXACT [] xref: MIM:620153 xref: MONDO:0859329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome created_by: mtutaj creation_date: 2024-07-31T14:45:17Z [Term] id: DOID:0060982 name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition alt_id: DOID:9006369 def: "A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. (DO)" [PMID:36322655 "DO"] synonym: "mosaic variegated aneuploidy syndrome 7" EXACT [] synonym: "MVA7" EXACT [] xref: MIM:620189 is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome is_a: DOID:9001329 ! Tumor Predisposition Syndrome created_by: mtutaj creation_date: 2024-07-31T14:47:53Z [Term] id: DOID:0060983 name: sitosterolemia 2 alt_id: DOID:9001723 def: "A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. (DO)" [PMID:11099417 "DO"] synonym: "ABCG5-related condition" EXACT [] synonym: "STSL2" EXACT [] xref: MIM:618666 xref: MONDO:0020748 is_a: DOID:0090019 ! sitosterolemia created_by: mtutaj creation_date: 2024-07-31T14:50:35Z [Term] id: DOID:0060984 name: digenic dyskeratosis congenita alt_id: DOID:9006803 def: "A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. (DO)" [PMID:35931051 "DO"] synonym: "DKCD" EXACT [] synonym: "dyskeratosis congenita, digenic" EXACT [] synonym: "TYMS-RELATED DISORDER" EXACT [] xref: MIM:620040 xref: MONDO:0031057 is_a: DOID:2729 ! dyskeratosis congenita created_by: mtutaj creation_date: 2024-09-30T11:20:56Z [Term] id: DOID:0060985 name: preaxial polydactyly type IV alt_id: DOID:9008310 def: "A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO)" [PMID:6641002 "DO"] synonym: "CP1" EXACT [] synonym: "crossed polydactyly type 1" EXACT [] synonym: "crossed polydactyly type I" EXACT [] synonym: "PPD4" EXACT [] synonym: "preaxial polydactyly 4" EXACT [] synonym: "preaxial polydactyly IV" EXACT [1] synonym: "uncomplicated polysyndactyly" EXACT [] xref: MESH:C536333 xref: MIM:174700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005329 ! Preaxial Polydactyly created_by: mtutaj creation_date: 2024-09-30T11:23:03Z [Term] id: DOID:0060986 name: preaxial polydactyly II alt_id: DOID:9007798 def: "A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. (DO)" [PMID:8012392 "DO"] synonym: "polydactyly of a triphalangeal thumb" EXACT [] synonym: "POLYDACTYLY OF TRIPHALANGEAL THUMB" EXACT [] synonym: "PPD2" EXACT [] synonym: "TPT" EXACT [] synonym: "TPT-PS syndrome" EXACT [] synonym: "triphalangeal thumb" BROAD [] synonym: "triphalangeal thumb with polydactyly" EXACT [] xref: GARD:5289 xref: MIM:174500 xref: ORDO:93336 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9005329 ! Preaxial Polydactyly created_by: mtutaj creation_date: 2024-09-30T11:26:55Z [Term] id: DOID:0060987 name: preaxial polydactyly I alt_id: DOID:9004978 def: "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. (DO)" [PMID:15405667 "DO"] synonym: "Fromont Anomaly" NARROW [] synonym: "GLI1-RELATED DISORDER" BROAD [] synonym: "PPD1" EXACT [] synonym: "preaxial polydactyly type 1" EXACT [] synonym: "THENAR HYPOPLASIA" BROAD [] synonym: "Thumb polydactyly" EXACT [] xref: GARD:4417 xref: MESH:C536332 xref: MIM:174400 xref: ORDO:93339 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005329 ! Preaxial Polydactyly created_by: mtutaj creation_date: 2024-09-30T11:29:40Z [Term] id: DOID:0060988 name: pancreatic agenesis 2 alt_id: DOID:9007770 def: "A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. (DO)" [PMID:24212882 "DO"] synonym: "PAGEN2" EXACT [] synonym: "PANCREATIC HYPOPLASIA, CONGENITAL 2" EXACT [] synonym: "PTF1A-related condition" BROAD [] xref: MIM:615935 xref: MONDO:0014406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050877 ! pancreatic agenesis created_by: mtutaj creation_date: 2024-09-30T11:31:14Z [Term] id: DOID:0060989 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 alt_id: DOID:9009129 def: "A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. (DO)" [PMID:29198724 "DO"] synonym: "SSFSC1" EXACT [] xref: MIM:617877 xref: MONDO:0100297 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004675 ! Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies created_by: mtutaj creation_date: 2024-09-30T11:34:17Z [Term] id: DOID:0060990 name: congenital disorder of deglycosylation 2 alt_id: DOID:9001812 def: "A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. (DO)" [PMID:35045343 "DO"] synonym: "CDDG2" EXACT [] synonym: "MAN2C1-RELATED DISORDER" EXACT [] xref: MIM:619775 xref: MONDO:0030770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060991 ! congenital disorder of deglycosylation is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2024-09-30T11:37:07Z [Term] id: DOID:0060991 name: congenital disorder of deglycosylation alt_id: DOID:9003697 def: "A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. (DO)" [https://www.chop.edu/conditions-diseases/congenital-disorders-glycosylation-cdg "DO"] synonym: "congenital disorders of deglycosylation" EXACT [] xref: MIM:PS615273 xref: MONDO:0031376 is_a: DOID:2978 ! carbohydrate metabolic disorder created_by: mtutaj creation_date: 2024-09-30T11:13:09Z [Term] id: DOID:0060992 name: bent bone dysplasia syndrome 1 alt_id: DOID:9001258 def: "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)" [PMID:22387015 "DO"] synonym: "BBDS1" EXACT [] synonym: "DISTINCT BENT BONE DYSPLASIA" NARROW [] synonym: "FGFR2-related bent bone dysplasia" EXACT [] synonym: "perinatal lethal bent bone dysplasia" EXACT [] xref: GARD:10965 xref: MIM:614592 xref: MONDO:0013815 xref: ORDO:313855 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006314 ! Bent Bone Dysplasia Syndrome created_by: mtutaj creation_date: 2024-09-30T12:06:08Z [Term] id: DOID:0060993 name: bent bone dysplasia syndrome 2 alt_id: DOID:9006726 def: "A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. (DO)" [PMID:33242826 "DO"] synonym: "BBDS2" EXACT [] synonym: "LAMA5-RELATED CONDITION" BROAD [] xref: MIM:620076 xref: MONDO:0859573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006314 ! Bent Bone Dysplasia Syndrome created_by: mtutaj creation_date: 2024-09-30T12:06:23Z [Term] id: DOID:0060994 name: encephalopathy due to defective mitochondrial and peroxisomal fission 2 alt_id: DOID:9002077 def: "A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. (DO)" [PMID:26783368 "DO"] synonym: "EMPF2" EXACT [] synonym: "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome" EXACT [] synonym: "MFF-RELATED CONDITION" EXACT [] synonym: "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [] xref: MIM:617086 xref: MONDO:0014905 xref: ORDO:485421 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009111 ! Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission created_by: mtutaj creation_date: 2024-09-30T12:09:44Z [Term] id: DOID:0060995 name: autosomal dominant isolated macrothrombocytopenia 2 alt_id: DOID:9003883 def: "A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. (DO)" [PMID:34704371 "DO"] synonym: "Isolated Macrothrombocytopenia 2, Autosomal Dominant" EXACT [] synonym: "MACTHC2" EXACT [] synonym: "TUBA8-RELATED CONDITION" EXACT [] xref: MIM:619840 xref: MONDO:0030827 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004194 ! Isolated Macrothrombocytopenia created_by: mtutaj creation_date: 2024-11-01T15:51:44Z [Term] id: DOID:0060996 name: poor metabolism of thiopurines 2 alt_id: DOID:9002041 def: "A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. (DO)" [PMID:26878724 "DO"] synonym: "NUDT15-RELATED CONDITION" EXACT [] synonym: "THPM2" EXACT [] xref: MIM:616903 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080172 ! poor metabolism of thiopurines created_by: mtutaj creation_date: 2024-11-01T16:01:57Z [Term] id: DOID:0060997 name: rhabdoid tumor predisposition syndrome 2 alt_id: DOID:9001988 def: "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. (DO)" [PMID:24752781 "DO"] synonym: "RTPS2" EXACT [] synonym: "SMARCA4-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA4-RELATED CONDITION" BROAD [] xref: MESH:C567643 xref: MIM:613325 xref: MONDO:0013224 is_a: DOID:0070617 ! rhabdoid tumor predisposition syndrome created_by: mtutaj creation_date: 2024-11-01T16:04:39Z [Term] id: DOID:0060998 name: striatal degeneration 2 alt_id: DOID:9005156 def: "A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. (DO)" [PMID:27058447 "DO"] synonym: "ADSD2" EXACT [] synonym: "PDE10A-RELATED CONDITION" BROAD [] synonym: "striatal degeneration, autosomal dominant 2" EXACT [] xref: MIM:616922 xref: MONDO:0014835 is_a: DOID:4752 ! multiple system atrophy is_a: DOID:9006845 ! Striatal Degeneration, Autosomal Dominant created_by: mtutaj creation_date: 2024-11-01T16:08:36Z [Term] id: DOID:0060999 name: mitochondrial trifunctional protein deficiency 2 alt_id: DOID:9002828 def: "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. (DO)" [PMID:12754706 "DO"] synonym: "HADHB-related condition" BROAD [] synonym: "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY" NARROW [] synonym: "MTPD2" EXACT [] synonym: "trifunctional protein deficiency, type 2" EXACT [] xref: MIM:620300 xref: MONDO:00958185 is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency created_by: mtutaj creation_date: 2024-11-01T16:11:22Z [Term] id: DOID:0061001 name: glycine encephalopathy 2 alt_id: DOID:9000953 def: "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. (DO)" [PMID:8005589 "DO"] synonym: "GCE2" EXACT [] xref: MIM:620398 xref: MONDO:0958192 is_a: DOID:9268 ! glycine encephalopathy created_by: mtutaj creation_date: 2024-11-01T16:29:39Z [Term] id: DOID:0061002 name: congenital amegakaryocytic thrombocytopenia 2 alt_id: DOID:9009110 def: "A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. (DO)" [PMID:28559357 "DO"] synonym: "CAMT2" EXACT [] xref: MIM:620481 xref: MONDO:0957575 is_a: DOID:0090118 ! congenital amegakaryocytic thrombocytopenia created_by: mtutaj creation_date: 2024-11-01T16:31:32Z [Term] id: DOID:0061003 name: pancreatic agenesis 1 def: "A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. (DO)" [PMID:20009086 "DO"] synonym: "PAGEN1" EXACT [] xref: MIM:260370 xref: MONDO:0024547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050877 ! pancreatic agenesis created_by: mtutaj creation_date: 2024-11-01T16:33:46Z [Term] id: DOID:0061004 name: poor metabolism of thiopurines 1 alt_id: DOID:9006969 def: "A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. (DO)" [PMID:2758725 "DO"] synonym: "THPM1" EXACT [] synonym: "TPMT-RELATED CONDITION" EXACT [] xref: MIM:610460 is_a: DOID:0080172 ! poor metabolism of thiopurines created_by: mtutaj creation_date: 2024-11-01T16:35:20Z [Term] id: DOID:0061005 name: congenital amegakaryocytic thrombocytopenia 1 alt_id: DOID:9006445 def: "A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. (DO)" [PMID:16351641 "DO"] synonym: "CAMT1" EXACT [] xref: MIM:604498 xref: MONDO:0800452 is_a: DOID:0090118 ! congenital amegakaryocytic thrombocytopenia created_by: mtutaj creation_date: 2024-11-27T18:37:54Z [Term] id: DOID:0061006 name: advanced sleep phase syndrome 4 alt_id: DOID:9004338 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. (DO)" [PMID:31138685 "DO"] synonym: "Advanced Sleep Phase Syndrome 4, Familial" EXACT [] synonym: "FASPS4" EXACT [] xref: MIM:620015 xref: MONDO:0031044 is_a: DOID:0050628 ! advanced sleep phase syndrome created_by: mtutaj creation_date: 2024-11-27T20:17:31Z [Term] id: DOID:0061007 name: sideroblastic anemia 5 alt_id: DOID:9001737 def: "A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. (DO)" [PMID:32634119 "DO"] synonym: "SIDBA5" EXACT [] xref: MIM:619523 xref: MONDO:0030436 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia created_by: mtutaj creation_date: 2024-11-27T20:20:42Z [Term] id: DOID:0061008 name: craniosynostosis 6 alt_id: DOID:9003835 def: "A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. (DO)" [PMID:26340333 "DO"] synonym: "CRS6" EXACT [] synonym: "ZIC1-RELATED CONDITION" BROAD [] xref: MIM:616602 xref: MONDO:0014705 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2024-11-27T20:23:23Z [Term] id: DOID:0061009 name: craniosynostosis 2 alt_id: DOID:9004512 def: "A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. (DO)" [PMID:23438589 "DO"] synonym: "craniosynostosis, Boston-type" EXACT [] synonym: "craniosynostosis, type 2" EXACT [] synonym: "craniosynostosis, Warman-type" EXACT [] synonym: "CRS2" EXACT [] synonym: "CSB" EXACT [] synonym: "Warman-Mulliken-Hayward syndrome" EXACT [] xref: GARD:5538 xref: MESH:C565753 xref: MIM:604757 xref: MONDO:0011481 xref: ORDO:1541 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2024-11-27T20:25:26Z [Term] id: DOID:0061010 name: craniosynostosis 1 def: "A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)" [PMID:23438589 "DO"] synonym: "craniosynostosis type 1" EXACT [] synonym: "CRS1" EXACT [] synonym: "TWIST1-related craniosynostosis" EXACT [] xref: MIM:123100 xref: MONDO:0007399 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2024-11-27T20:30:12Z [Term] id: DOID:0061011 name: craniosynostosis 3 alt_id: DOID:9002862 def: "A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. (DO)" [PMID:23438589 "DO"] synonym: "coronal craniosynostosis" EXACT [] synonym: "CRS3" EXACT [] synonym: "TCF12-RELATED CONDITION" BROAD [] xref: MIM:615314 xref: MONDO:0014128 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2024-11-27T20:38:32Z [Term] id: DOID:0061012 name: craniosynostosis 4 alt_id: DOID:9004470 def: "A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. (DO)" [PMID:23438589 "DO"] synonym: "CRS4" EXACT [] xref: MIM:600775 xref: MONDO:0010929 xref: ORDO:647681 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2024-11-27T21:41:32Z [Term] id: DOID:0061013 name: ovarian dysgenesis 9 alt_id: DOID:9000760 def: "A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. (DO)" [PMID:34697795 "DO"] synonym: "ODG9" EXACT [] xref: MIM:619665 xref: MONDO:0030506 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: mtutaj creation_date: 2024-11-27T21:44:26Z [Term] id: DOID:0061014 name: ovarian dysgenesis 10 alt_id: DOID:9002412 def: "A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. (DO)" [PMID:34402903 "DO"] synonym: "ODG10" EXACT [] xref: MIM:619834 xref: MONDO:0030736 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: mtutaj creation_date: 2024-11-27T21:46:58Z [Term] id: DOID:0061015 name: female-restricted Wieacker-Wolff syndrome alt_id: DOID:9008262 def: "A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. (DO)" [PMID:31206972 "DO"] synonym: "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" EXACT [] synonym: "WRWFFR" EXACT [] xref: MIM:301041 xref: NCI:C198578 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2024-12-19T11:05:13Z [Term] id: DOID:0061016 name: combined or isolated pituitary growth hormone deficiency 7 alt_id: DOID:9009240 def: "A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. (DO)" [PMID:33650182 "DO"] synonym: "CPHD7" EXACT [] synonym: "IGHD5" EXACT [] synonym: "isolated growth hormone deficiency, type 5" EXACT [] synonym: "isolated growth hormone deficiency type V" EXACT [] synonym: "RNPC3-related disorder" EXACT [] xref: MIM:618160 xref: MONDO:0032569 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:13:33Z [Term] id: DOID:0061017 name: combined pituitary hormone deficiency 4 alt_id: DOID:9008403 def: "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. (DO)" [PMID:17527005 "DO"] synonym: "combined pituitary hormone deficiency with or without cerebellar defects" EXACT [] synonym: "CPHD4" EXACT [] synonym: "LHX4-RELATED CONDITION" EXACT [] synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" EXACT [] synonym: "short stature-pituitary and cerebellar defects-small sella turcica syndrome" EXACT [] xref: GARD:10604 xref: MESH:C567492 xref: MIM:262700 xref: MONDO:0009880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:17:23Z [Term] id: DOID:0061018 name: combined or isolated pituitary hormone deficiency 8 alt_id: DOID:9005178 def: "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. (DO)" [PMID:28402530 "DO"] synonym: "Combined Pituitary Hormone Deficiency 8" EXACT [] synonym: "CPHD8" EXACT [] xref: MIM:620303 xref: MONDO:00957208 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:20:42Z [Term] id: DOID:0061019 name: combined or isolated pituitary hormone deficiency 1 alt_id: DOID:9005344 def: "A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. (DO)" [PMID:34270938 "DO"] synonym: "Combined Pituitary Hormone Deficiency 1" EXACT [] synonym: "combined pituitary hormone deficiency, dominant/recessive" EXACT [] synonym: "CPHD1" EXACT [] synonym: "POU1F1-related condition" BROAD [] xref: MESH:C567803 xref: MIM:613038 xref: MONDO:0024464 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:24:38Z [Term] id: DOID:0061020 name: combined pituitary hormone deficiency 2 alt_id: DOID:9008340 def: "A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. (DO)" [PMID:9462743 "DO"] synonym: "ateliotic dwarfism with hypogonadism" EXACT [] synonym: "combined pituitary hormone deficiency, recessive" RELATED [] synonym: "combined pituitary hormone deficiency type 2" EXACT [] synonym: "CPHD2" EXACT [] synonym: "Hanhart dwarfism" EXACT [] synonym: "pituitary dwarfism III" EXACT [] synonym: "PROP1-related condition" BROAD [] xref: MESH:C563172 xref: MIM:262600 xref: MONDO:0009878 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:26:35Z [Term] id: DOID:0061021 name: combined pituitary hormone deficiency 3 alt_id: DOID:9004924 def: "A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. (DO)" [PMID:10835633 "DO"] synonym: "combined pituitary hormone deficiency with rigid cervical spine" EXACT [] synonym: "CPHD3" EXACT [] synonym: "LHX3-related condition" BROAD [] synonym: "NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY" EXACT [] synonym: "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT [] synonym: "Sensorineural deafness with Pituitary dwarfism" EXACT [] synonym: "Winkelman-Bethge-Pfeiffer syndrome" EXACT [] xref: GARD:10603 xref: MESH:C536710 xref: MIM:221750 xref: MONDO:0009091 xref: ORDO:231720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:41:12Z [Term] id: DOID:0061022 name: combined pituitary hormone deficiency 6 alt_id: DOID:9005891 def: "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. (DO)" [PMID:18728160 "DO"] synonym: "COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT" EXACT [] synonym: "CPHD6" EXACT [] xref: MIM:613986 xref: MONDO:0013518 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9410 ! combined pituitary hormone deficiency created_by: mtutaj creation_date: 2024-12-19T11:43:49Z [Term] id: DOID:0061023 name: nonphotosensitive trichothiodystrophy 8 alt_id: DOID:9002363 def: "A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)" [PMID:33909043 "DO"] synonym: "TTD8" EXACT [] xref: MIM:619691 xref: MONDO:0030517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy created_by: mtutaj creation_date: 2024-12-19T11:46:08Z [Term] id: DOID:0061024 name: nonphotosensitive trichothiodystrophy 9 alt_id: DOID:9004318 def: "A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. (DO)" [PMID:33909043 "DO"] synonym: "TTD9" EXACT [] xref: MIM:619692 xref: MONDO:0030518 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy created_by: mtutaj creation_date: 2024-12-19T11:48:33Z [Term] id: DOID:0061025 name: familial restrictive cardiomyopathy 6 alt_id: DOID:9000303 def: "A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. (DO)" [PMID:29357359 "DO"] synonym: "KIF20A-RELATED CONDITION" EXACT [] synonym: "RCM6" EXACT [] synonym: "restrictive cardiomyopathy 6" EXACT [] xref: MIM:619433 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:397 ! restrictive cardiomyopathy created_by: mtutaj creation_date: 2025-01-31T18:26:50Z [Term] id: DOID:0061026 name: hereditary pyropoikilocytosis alt_id: DOID:9000212 def: "A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. (DO)" [PMID:1191563 "DO"] synonym: "HPP" EXACT [] xref: GARD:4619 xref: MESH:C563004 xref: MIM:266140 xref: MONDO:0009948 xref: ORDO:98867 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2373 ! hereditary elliptocytosis created_by: mtutaj creation_date: 2025-01-31T18:28:40Z [Term] id: DOID:0061027 name: Duane retraction syndrome 1 alt_id: DOID:9004102 def: "A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. (DO)" [PMID:10577917 "DO"] synonym: "Duane retraction syndrome type 1" EXACT [] synonym: "Duane syndrome type 1" EXACT [] synonym: "DURS1" EXACT [] xref: MIM:126800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12557 ! Duane retraction syndrome created_by: mtutaj creation_date: 2025-01-31T18:31:53Z [Term] id: DOID:0061028 name: Duane retraction syndrome 2 alt_id: DOID:9003590 def: "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. (DO)" [PMID:20034095 "DO"] synonym: "CHN1-RELATED CONDITION" EXACT [] synonym: "Duane retraction syndrome type 2" EXACT [] synonym: "Duane syndrome type 2" EXACT [] synonym: "DURS2" EXACT [] xref: MIM:604356 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12557 ! Duane retraction syndrome created_by: mtutaj creation_date: 2025-01-31T18:32:05Z [Term] id: DOID:0061029 name: Duane retraction syndrome 3 alt_id: DOID:9005360 def: "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO)" [PMID:27181683 "DO"] synonym: "Duane retraction syndrome 3 with or without deafness" EXACT [] synonym: "Duane retraction syndrome type 3" EXACT [] synonym: "Duane syndrome type 3" EXACT [] synonym: "DURS3" EXACT [] synonym: "MAFB-related condition" BROAD [] xref: MIM:617041 xref: MONDO:0014880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12557 ! Duane retraction syndrome created_by: mtutaj creation_date: 2025-01-31T18:32:15Z [Term] id: DOID:0061030 name: hemophilia def: "A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. (DO)" [https://medlineplus.gov/hemophilia.html "DO", https://www.nhlbi.nih.gov/health/bleeding-disorders/types "DO"] xref: GARD:0418 is_a: DOID:1247 ! blood coagulation disease created_by: mtutaj creation_date: 2025-01-31T18:32:34Z [Term] id: DOID:0061031 name: autosomal dominant intellectual developmental disorder 57 alt_id: DOID:9009194 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. (DO)" [PMID:29861108 "DO"] synonym: "autosomal dominant mental retardation 57" EXACT [] synonym: "MRD57" EXACT [] synonym: "TLK2-related condition" BROAD [] synonym: "TLK2-related neurodevelopmental disorder" BROAD [] xref: MIM:618050 xref: MONDO:0054837 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-03T17:11:06Z [Term] id: DOID:0061032 name: autosomal dominant intellectual developmental disorder 58 alt_id: DOID:9000141 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. (DO)" [PMID:29688601 "DO"] synonym: "Autosomal Dominant Mental Retardation 58" EXACT [] synonym: "MRD58" EXACT [] synonym: "SET-related condition" BROAD [] xref: MIM:618106 xref: MONDO:0020847 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-03T17:16:55Z [Term] id: DOID:0061033 name: autosomal dominant intellectual developmental disorder 59 alt_id: DOID:9005810 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. (DO)" [PMID:30184290 "DO"] synonym: "autosomal dominant mental retardation 59" EXACT [] synonym: "CAMK2G-related condition" BROAD [] synonym: "intellectual developmental disorder 59" EXACT [] synonym: "MRD59" EXACT [] xref: MIM:618522 xref: MONDO:0032795 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-03T17:18:31Z [Term] id: DOID:0061034 name: autosomal dominant intellectual developmental disorder 61 alt_id: DOID:9005864 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. (DO)" [PMID:29740699 "DO"] synonym: "autosomal dominant mental retardation 61" EXACT [] synonym: "intellectual developmental disorder 61" EXACT [] synonym: "MED13-related condition" BROAD [] synonym: "MRD61" EXACT [] xref: MIM:618009 xref: MONDO:0032485 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-03T17:20:21Z [Term] id: DOID:0061035 name: autosomal dominant intellectual developmental disorder 62 alt_id: DOID:9003710 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. (DO)" [PMID:29460436 "DO"] synonym: "autosomal dominant mental retardation 62" EXACT [] synonym: "DLG4-related condition" BROAD [] synonym: "intellectual developmental disorder 62" EXACT [] synonym: "MRD62" EXACT [] xref: MIM:618793 xref: MONDO:0032919 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-03T17:22:02Z [Term] id: DOID:0061036 name: autosomal dominant intellectual developmental disorder 63 with macrocephaly alt_id: DOID:9000372 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. (DO)" [PMID:32109419 "DO"] synonym: "autosomal dominant mental retardation 63 with macrocephaly" EXACT [] synonym: "MRD63" EXACT [] synonym: "TRIO-related condition" BROAD [] synonym: "TRIO-related disorder" BROAD [] xref: MIM:618825 xref: MONDO:0032939 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9003816 ! Macrocephaly created_by: mtutaj creation_date: 2025-03-03T17:23:43Z [Term] id: DOID:0061037 name: autosomal dominant intellectual developmental disorder 64 alt_id: DOID:9005687 def: "An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. (DO)" [PMID:31723249 "DO"] synonym: "autosomal dominant mental retardation 64" EXACT [] synonym: "MRD64" EXACT [] synonym: "ZNF292-related condition" BROAD [] xref: MIM:619188 xref: MONDO:0030934 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-03T17:25:51Z [Term] id: DOID:0061038 name: autosomal dominant intellectual developmental disorder 65 alt_id: DOID:9008506 def: "An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. (DO)" [PMID:33232677 "DO"] synonym: "autosomal dominant mental retardation 65" EXACT [] synonym: "KDM4B-related condition" BROAD [] synonym: "MRD65" EXACT [] xref: MIM:619320 xref: MONDO:0023657 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:00:28Z [Term] id: DOID:0061039 name: autosomal dominant intellectual developmental disorder 66 alt_id: DOID:9001141 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. (DO)" [PMID:35358416 "DO"] synonym: "ATP2B1-RELATED DISORDER" EXACT [] synonym: "autosomal dominant mental retardation 66" EXACT [] synonym: "MRD66" EXACT [] xref: MIM:619910 xref: MONDO:0030891 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:02:29Z [Term] id: DOID:0061040 name: autosomal dominant intellectual developmental disorder 67 alt_id: DOID:9007677 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. (DO)" [PMID:35675825 "DO"] synonym: "autosomal dominant mental retardation 67" EXACT [] synonym: "GRIA1-related condition" BROAD [] synonym: "MRD67" EXACT [] xref: MIM:619927 xref: MONDO:0030964 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:03:56Z [Term] id: DOID:0061041 name: autosomal dominant intellectual developmental disorder 68 alt_id: DOID:9005196 def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. (DO)" [PMID:33150406 "DO"] synonym: "autosomal dominant mental retardation 68" EXACT [] synonym: "KMT2B-related condition" BROAD [] synonym: "MRD68" EXACT [] xref: MIM:619934 xref: MONDO:0030969 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:05:30Z [Term] id: DOID:0061042 name: autosomal dominant intellectual developmental disorder 69 alt_id: DOID:9003904 def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. (DO)" [PMID:31020005 "DO"] synonym: "autosomal dominant mental retardation 69" EXACT [] synonym: "MRD69" EXACT [] xref: MIM:617863 xref: MONDO:0029465 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:07:03Z [Term] id: DOID:0061043 name: autosomal dominant intellectual developmental disorder 70 alt_id: DOID:9006951 def: "An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. (DO)" [PMID:32710489 "DO"] synonym: "MRD70" EXACT [] xref: MIM:620157 xref: MONDO:0859333 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:08:21Z [Term] id: DOID:0061044 name: autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities alt_id: DOID:9004011 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. (DO)" [PMID:33658631 "DO"] synonym: "autosomal dominant intellectual developmental disorder 71" EXACT [] synonym: "MRD71" EXACT [] synonym: "RFX7-related condition" BROAD [] xref: MIM:620330 xref: MONDO:0957228 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:09:49Z [Term] id: DOID:0061045 name: autosomal dominant intellectual developmental disorder 72 alt_id: DOID:9006413 def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. (DO)" [PMID:35567594 "DO"] synonym: "intellectual developmental disorder, autosomal dominant 72" EXACT [] synonym: "MRD72" EXACT [] synonym: "SRRM2-related condition" BROAD [] xref: MIM:620439 xref: MONDO:0957397 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:11:53Z [Term] id: DOID:0061046 name: autosomal dominant intellectual developmental disorder 73 alt_id: DOID:9008872 def: "An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. (DO)" [PMID:35904126 "DO"] synonym: "MRD73" EXACT [] synonym: "T4ND" EXACT [] synonym: "TAF4-related NDD" EXACT [] synonym: "TAF4-related neurodevelopmental disorder" EXACT [] xref: MIM:620450 xref: MONDO:0957536 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:13:20Z [Term] id: DOID:0061047 name: autosomal dominant intellectual developmental disorder 74 alt_id: DOID:9007587 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. (DO)" [PMID:37541189 "DO"] synonym: "MRD74" EXACT [] xref: MIM:620688 xref: MONDO:0958203 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:14:57Z [Term] id: DOID:0061048 name: autosomal dominant intellectual developmental disorder 75 alt_id: DOID:9009247 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. (DO)" [PMID:37467750 "DO"] synonym: "DHX9-RELATED DISORDER" EXACT [] synonym: "MRD75" EXACT [] xref: MIM:620988 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2025-03-04T09:16:44Z [Term] id: DOID:0061049 name: autosomal dominant intellectual developmental disorder type FRA12A alt_id: DOID:9005790 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. (DO)" [PMID:17236128 "DO"] synonym: "DIP2B-related condition" BROAD [] synonym: "intellectual disability, FRA12A type" EXACT [] synonym: "mental retardation, FRA12A type" EXACT [] xref: MESH:C566980 xref: MIM:136630 xref: MONDO:0007634 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0080014 ! chromosomal disease created_by: mtutaj creation_date: 2025-03-04T09:18:15Z [Term] id: DOID:0061050 name: autosomal dominant intellectual developmental disorder 60 with seizures alt_id: DOID:9000911 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. (DO)" [PMID:31104773 "DO"] synonym: "AP2M1-related condition" BROAD [] synonym: "Autosomal Dominant Intellectual Developmental Disorder 60" EXACT [] synonym: "autosomal dominant mental retardation 60" EXACT [] synonym: "autosomal dominant mental retardation 60 with seizures" EXACT [] synonym: "intellectual developmental disorder 60 with seizures" EXACT [] synonym: "MRD60" EXACT [] xref: EFO:0010566 xref: MIM:618587 xref: MONDO:0032823 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1826 ! epilepsy created_by: mtutaj creation_date: 2025-03-04T09:21:40Z [Term] id: DOID:0061051 name: immunodeficiency 80 alt_id: DOID:9004909 def: "A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. (DO)" [PMID:33712616 "DO"] synonym: "IMD80" EXACT [] synonym: "immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy" EXACT [] synonym: "immunodeficiency-80 with or without congenital cardiomyopathy" EXACT [] synonym: "MCM10 deficiency" EXACT [] xref: MIM:619313 xref: MONDO:0030266 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:24:17Z [Term] id: DOID:0061052 name: immunodeficiency 81 alt_id: DOID:9008093 def: "A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. (DO)" [PMID:33231617 "DO"] synonym: "IMD81" EXACT [] xref: MIM:619374 xref: MONDO:0030302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:26:29Z [Term] id: DOID:0061053 name: immunodeficiency 82 alt_id: DOID:9004738 def: "A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. (DO)" [PMID:33782605 "DO"] synonym: "IMD82" EXACT [] synonym: "immunodeficiency 82 with systemic inflammation" EXACT [] xref: MIM:619381 xref: MONDO:0030308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9005372 ! Inflammation created_by: mtutaj creation_date: 2025-03-04T09:27:54Z [Term] id: DOID:0061054 name: immunodeficiency 84 alt_id: DOID:9006187 def: "A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (DO)" [PMID:34155405 "DO"] synonym: "IMD84" EXACT [] xref: MIM:619437 xref: MONDO:0030333 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:29:36Z [Term] id: DOID:0061055 name: immunodeficiency 85 alt_id: DOID:9001304 def: "A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. (DO)" [PMID:31263572 "DO"] synonym: "IMD85" EXACT [] synonym: "immunodeficiency 85 and autoimmunity" EXACT [] xref: MIM:619510 xref: MONDO:0030428 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:30:54Z [Term] id: DOID:0061056 name: immunodeficiency 86 alt_id: DOID:9000868 def: "A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. (DO)" [PMID:30127434 "DO"] synonym: "IMD86" EXACT [] synonym: "immunodeficiency 86, mycobacteriosis" EXACT [] xref: MIM:619549 xref: MONDO:0030448 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:9001415 ! Mycobacterium Infections created_by: mtutaj creation_date: 2025-03-04T09:32:49Z [Term] id: DOID:0061057 name: immunodeficiency 87 alt_id: DOID:9002508 def: "A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. (DO)" [PMID:32562707 "DO"] synonym: "DEF6-related condition" BROAD [] synonym: "IMD87" EXACT [] synonym: "immunodeficiency 87 and autoimmunity" EXACT [] xref: MIM:619573 xref: MONDO:0030457 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:417 ! autoimmune disease created_by: mtutaj creation_date: 2025-03-04T09:34:53Z [Term] id: DOID:0061058 name: immunodeficiency 88 alt_id: DOID:9000762 def: "A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. (DO)" [PMID:34160550 "DO"] synonym: "IMD88" EXACT [] synonym: "immunodeficiency 88, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:619630 xref: MONDO:0030483 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001415 ! Mycobacterium Infections created_by: mtutaj creation_date: 2025-03-04T09:38:48Z [Term] id: DOID:0061059 name: immunodeficiency 89 alt_id: DOID:9006139 def: "A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. (DO)" [PMID:32238915 "DO"] synonym: "CARD10-related condition" BROAD [] synonym: "IMD89" EXACT [] synonym: "immunodeficiency 89 and autoimmunity" EXACT [] xref: MIM:619632 xref: MONDO:0030484 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:41:00Z [Term] id: DOID:0061060 name: immunodeficiency 90 alt_id: DOID:9003840 def: "A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. (DO)" [PMID:32350755 "DO"] synonym: "FADD deficiency" EXACT [] synonym: "IMD90" EXACT [] synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [] synonym: "INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS" EXACT [] synonym: "Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations" EXACT [] xref: MIM:613759 xref: MONDO:0013408 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:409 ! liver disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9002682 ! Cardiovascular Abnormalities is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2025-03-04T09:43:22Z [Term] id: DOID:0061061 name: immunodeficiency 91 alt_id: DOID:9003310 def: "A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. (DO)" [PMID:33876776 "DO"] synonym: "IMD91" EXACT [] synonym: "immunodeficiency 91 and hyperinflammation" EXACT [] synonym: "ZNFX1-related condition" BROAD [] xref: MIM:619644 xref: MONDO:0030491 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:46:25Z [Term] id: DOID:0061062 name: immunodeficiency 92 alt_id: DOID:9000365 def: "A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. (DO)" [PMID:34623332 "DO"] synonym: "IMD92" EXACT [] synonym: "REL-related condition" BROAD [] xref: MIM:619652 xref: MONDO:0030498 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:48:11Z [Term] id: DOID:0061063 name: immunodeficiency 93 alt_id: DOID:9001635 def: "A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. (DO)" [PMID:32181500 "DO"] synonym: "FNIP1-related condition" BROAD [] synonym: "IMD93" EXACT [] synonym: "immunodeficiency 93 and hypertrophic cardiomyopathy" EXACT [] xref: MIM:619705 xref: MONDO:0030528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:49:47Z [Term] id: DOID:0061064 name: immunodeficiency 94 alt_id: DOID:9001114 def: "A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. (DO)" [PMID:33517393 "DO"] synonym: "IMD94" EXACT [] synonym: "immunodeficiency 94 with autoinflammation and dysmorphic facies" EXACT [] xref: MIM:619750 xref: MONDO:0030681 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001487 ! Facies is_a: DOID:9004150 ! Lymphadenopathy is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2025-03-04T09:51:26Z [Term] id: DOID:0061065 name: immunodeficiency 95 alt_id: DOID:9006705 def: "A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. (DO)" [PMID:34185153 "DO"] synonym: "HEREDITARY PREDISPOSITION TO INFECTIONS" BROAD [] synonym: "IMD95" EXACT [] xref: MIM:619773 xref: MONDO:0030692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:54:01Z [Term] id: DOID:0061066 name: immunodeficiency 96 alt_id: DOID:9000296 def: "A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. (DO)" [PMID:30395541 "DO"] synonym: "IMD96" EXACT [] synonym: "LIG1-related condition" BROAD [] xref: MIM:619774 xref: MONDO:0030693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T09:55:40Z [Term] id: DOID:0061067 name: immunodeficiency 97 alt_id: DOID:9004179 def: "A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. (DO)" [PMID:31554793 "DO"] synonym: "IMD97" EXACT [] synonym: "immunodeficiency 97 with autoinflammation" EXACT [] xref: MIM:619802 xref: MONDO:0030717 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2025-03-04T10:40:38Z [Term] id: DOID:0061068 name: immunodeficiency 98 alt_id: DOID:9004058 def: "A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. (DO)" [PMID:33512449 "DO"] synonym: "IMD98" EXACT [] synonym: "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8" EXACT [] synonym: "INFLTR8" EXACT [] synonym: "TLR8-related condition" BROAD [] synonym: "X-linked immunodeficiency 98 with autoinflammation" EXACT [] xref: MIM:301078 xref: MONDO:0024777 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2025-03-04T10:43:04Z [Term] id: DOID:0061069 name: immunodeficiency 99 alt_id: DOID:9003255 def: "A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. (DO)" [PMID:32484799 "DO"] synonym: "IMD99" EXACT [] synonym: "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" EXACT [] xref: MIM:619846 xref: MONDO:0030728 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2025-03-04T10:45:55Z [Term] id: DOID:0061070 name: immunodeficiency 100 alt_id: DOID:9002124 def: "A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. (DO)" [PMID:34145065 "DO"] synonym: "IMD100" EXACT [] synonym: "immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia" EXACT [1] synonym: "OAS1-related condition" BROAD [] synonym: "PAPHG" EXACT [] synonym: "PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA" EXACT [] xref: MIM:618042 xref: MONDO:0020840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11162 ! respiratory failure is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:9001039 ! Leukocytosis is_a: DOID:9002720 ! Splenomegaly created_by: mtutaj creation_date: 2025-03-04T10:48:36Z [Term] id: DOID:0061071 name: immunodeficiency 101 alt_id: DOID:9003532 def: "A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. (DO)" [PMID:30211253 "DO"] synonym: "IMD101" EXACT [] synonym: "immunodeficiency 101 varicella zoster virus-specific" EXACT [] xref: MIM:619872 xref: MONDO:0030813 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T10:52:03Z [Term] id: DOID:0061072 name: immunodeficiency 102 alt_id: DOID:9000339 def: "A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. (DO)" [PMID:33876203 "DO"] synonym: "IMD102" EXACT [] xref: MIM:301082 xref: MONDO:0024781 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency created_by: mtutaj creation_date: 2025-03-04T10:55:01Z [Term] id: DOID:0061073 name: Perrault syndrome 7 alt_id: DOID:9009292 def: "A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. (DO)" [PMID:39701103 "DO"] synonym: "PRLTS7" EXACT [] xref: MIM:621101 is_a: DOID:0050857 ! Perrault syndrome created_by: mtutaj creation_date: 2025-03-04T10:56:56Z [Term] id: DOID:0061074 name: severe combined immunodeficiency 105 alt_id: DOID:9005579 def: "A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. (DO)" [PMID:10700239 "DO"] synonym: "IMD105" EXACT [] xref: MIM:619924 xref: MONDO:0800104 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2025-03-04T10:58:34Z [Term] id: DOID:0061075 name: immunodeficiency 106 alt_id: DOID:9006471 def: "A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. (DO)" [PMID:35442418 "DO"] synonym: "IFNAR1 deficiency" BROAD [] synonym: "IFNAR1-related condition" BROAD [] synonym: "IMD106" EXACT [] synonym: "immunodeficiency 106, susceptibility to viral infections" EXACT [] xref: MIM:619935 xref: MONDO:0030970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T11:01:57Z [Term] id: DOID:0061076 name: immunodeficiency 107 alt_id: DOID:9006021 def: "A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. (DO)" [PMID:35587511 "DO"] synonym: "IMD107" EXACT [] synonym: "IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION" RELATED [] synonym: "immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection" RELATED [] synonym: "OTULIN-RELATED CONDITION" BROAD [] synonym: "susceptibility to invasive Staphylococcus aureus infection" RELATED [] xref: MIM:619986 xref: MONDO:0031030 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:850 ! lung disease is_a: DOID:9008885 ! Staphylococcal Infections created_by: mtutaj creation_date: 2025-03-04T11:04:11Z [Term] id: DOID:0061077 name: immunodeficiency 108 alt_id: DOID:9000056 def: "A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. (DO)" [PMID:31201888 "DO"] synonym: "CEBPE-related condition" BROAD [] synonym: "IMD108" EXACT [] synonym: "immunodeficiency-108 with autoinflammation" EXACT [] synonym: "Pelger-Huet-like anomaly and episodic fever with abdominal pain" EXACT [] xref: MESH:C564899 xref: MIM:260570 xref: MONDO:0009842 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9000972 ! Fever is_a: DOID:9005734 ! Abdominal Pain is_a: DOID:9500 ! leukocyte disease created_by: mtutaj creation_date: 2025-03-04T11:06:01Z [Term] id: DOID:0061078 name: immunodeficiency 109 alt_id: DOID:9009044 def: "A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. (DO)" [PMID:30872117 "DO"] synonym: "IMD109" EXACT [] synonym: "immunodeficiency-109 with EBV-induced lymphoproliferation" EXACT [] synonym: "immunodeficiency-109 with Epstein-Barr virus (EBV)-induced lymphoproliferation" EXACT [] synonym: "immunodeficiency 109 with lymphoproliferation" EXACT [] synonym: "TNFRSF9-related condition" BROAD [] xref: MIM:620282 xref: MONDO:0859526 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T11:25:29Z [Term] id: DOID:0061079 name: immunodeficiency 112 alt_id: DOID:9001786 def: "A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. (DO)" [PMID:29230214 "DO"] synonym: "IMD112" EXACT [] synonym: "MAP3K14-related condition" BROAD [] xref: MIM:620449 xref: MONDO:0957535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency created_by: mtutaj creation_date: 2025-03-04T11:27:20Z [Term] id: DOID:0061080 name: immunodeficiency 114 alt_id: DOID:9001372 def: "A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. (DO)" [PMID:36517554 "DO"] synonym: "folate-responsive immunodeficiency 114" EXACT [] synonym: "IMD114" EXACT [] synonym: "SLC19A1-related condition" BROAD [] xref: MIM:620603 xref: MONDO:0957955 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T11:29:29Z [Term] id: DOID:0061081 name: immunodeficiency 115 alt_id: DOID:9005711 def: "A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. (DO)" [PMID:30936877 "DO"] synonym: "IMD115" EXACT [] synonym: "immunodeficiency 115 with autoinflammation" EXACT [1] synonym: "RNF31-related condition" BROAD [] xref: MIM:620632 xref: MONDO:0957981 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2025-03-04T11:31:43Z [Term] id: DOID:0061082 name: immunodeficiency 116 alt_id: DOID:9006804 def: "A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. (DO)" [PMID:26563160 "DO"] synonym: "CD8 Deficiency, Familial" EXACT [] xref: MESH:C563824 xref: MIM:608957 xref: MONDO:0012161 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2025-03-04T11:33:54Z [Term] id: DOID:0061083 name: immunodeficiency 117 alt_id: DOID:9005297 def: "A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. (DO)" [PMID:36736301 "DO"] synonym: "IMD117" EXACT [] synonym: "Immunodeficiency 117, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:620668 xref: MONDO:0958011 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2025-03-04T11:37:09Z [Term] id: DOID:0061084 name: immunodeficiency 118 alt_id: DOID:9007628 def: "A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. (DO)" [PMID:37875108 "DO"] synonym: "IMD118" EXACT [] synonym: "Immunodeficiency 118, mycobacteriosis" EXACT [] synonym: "Immunodeficiency 118, mycobacteriosis, X-linked recessive" EXACT [] xref: MIM:301115 xref: MONDO:0958030 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T11:43:24Z [Term] id: DOID:0061085 name: immunodeficiency 119 alt_id: DOID:9008882 def: "A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. (DO)" [PMID:30498080 "DO"] synonym: "IMD119" EXACT [] xref: MIM:620825 xref: MONDO:0970993 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency created_by: mtutaj creation_date: 2025-03-04T11:45:15Z [Term] id: DOID:0061086 name: immunodeficiency 120 def: "A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. (DO)" [PMID:31629014 "DO"] xref: MIM:620836 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2025-03-04T11:47:27Z [Term] id: DOID:0061087 name: immunodeficiency 121 alt_id: DOID:9008734 def: "A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. (DO)" [PMID:38503300 "DO"] synonym: "IMD121" EXACT [] synonym: "immunodeficiency 121 with autoinflammation" EXACT [] xref: MIM:620807 xref: MONDO:0971001 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2025-03-04T11:50:02Z [Term] id: DOID:0061088 name: immunodeficiency 122 alt_id: DOID:9008917 def: "A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. (DO)" [PMID:38099988 "DO"] synonym: "IMD122" EXACT [] synonym: "POLD3-RELATED DISORDER" EXACT [] xref: MIM:620869 xref: MONDO:0971151 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency created_by: mtutaj creation_date: 2025-03-04T11:53:22Z [Term] id: DOID:0061089 name: immunodeficiency 123 alt_id: DOID:9005066 def: "A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. (DO)" [PMID:34214472 "DO"] synonym: "IMD123" EXACT [] synonym: "immunodeficiency 123 with HPV-related verrucosis" EXACT [] xref: MIM:620901 xref: MONDO:0971177 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency relationship: has_component DOID:3178 ! skin papilloma created_by: mtutaj creation_date: 2025-03-04T11:55:31Z [Term] id: DOID:0061090 name: severe combined immunodeficiency 124 alt_id: DOID:9007485 def: "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. (DO)" [PMID:37703920 "DO"] synonym: "IMD124" EXACT [] synonym: "Immunodeficiency 124" EXACT [] synonym: "NHEJ1 Syndrome" EXACT [] synonym: "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY" NARROW [] synonym: "SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation" EXACT [] synonym: "Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation" EXACT [] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency" EXACT [] xref: MESH:C566970 xref: MIM:611291 xref: MONDO:0012650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2025-03-04T11:58:10Z [Term] id: DOID:0061091 name: immunodeficiency 125 alt_id: DOID:9009224 def: "A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. (DO)" [PMID:38701783 "DO"] synonym: "IMD125" EXACT [] xref: MIM:620926 xref: MONDO:0975749 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2115 ! B cell deficiency created_by: mtutaj creation_date: 2025-03-04T12:00:56Z [Term] id: DOID:0061092 name: immunodeficiency 127 alt_id: DOID:9009233 def: "A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. (DO)" [PMID:39198650 "DO"] synonym: "IMD127" EXACT [] synonym: "Immunodeficiency 127, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:620977 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T14:36:11Z [Term] id: DOID:0061093 name: immunodeficiency 128 alt_id: DOID:9009209 def: "A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. (DO)" [PMID:33529166 "DO"] synonym: "IMD128" EXACT [] xref: MIM:620983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency created_by: mtutaj creation_date: 2025-03-04T14:38:14Z [Term] id: DOID:0061094 name: immunodeficiency 129 alt_id: DOID:9001570 def: "A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. (DO)" [PMID:38775840 "DO"] synonym: "epidermodysplasia verruciformis 4" EXACT [] synonym: "epidermodysplasia verruciformis, susceptibility to, 4" EXACT [] synonym: "EV4" EXACT [] synonym: "IMD129" EXACT [] synonym: "RHOH-related condition" BROAD [] xref: MIM:618307 xref: MONDO:0032666 is_a: DOID:11200 ! T cell deficiency is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: mtutaj creation_date: 2025-03-04T14:39:57Z [Term] id: DOID:0061096 name: immunodeficiency 133 alt_id: DOID:9005112 def: "A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. (DO)" [PMID:39560673 "DO"] synonym: "IMD133" EXACT [] synonym: "Immunodeficiency 133 with autoimmunity and autoinflammation" EXACT [] synonym: "immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy" EXACT [] xref: MIM:621254 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T14:46:02Z [Term] id: DOID:0061097 name: immunodeficiency 132B alt_id: DOID:9009295 def: "A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. (DO)" [PMID:39579173 "DO"] synonym: "IMD132B" EXACT [] xref: MIM:621096 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2025-03-04T14:51:24Z [Term] id: DOID:0061098 name: Carpenter syndrome 1 alt_id: DOID:9005101 def: "A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. (DO)" [PMID:20358613 "DO"] synonym: "CRPT1" EXACT [] synonym: "RAB23-related condition" BROAD [] xref: MIM:201000 xref: MONDO:0008710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060234 ! Carpenter syndrome created_by: mtutaj creation_date: 2025-03-04T14:53:09Z [Term] id: DOID:0061099 name: Carpenter syndrome 2 alt_id: DOID:9002469 def: "A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. (DO)" [PMID:23063620 "DO"] synonym: "CRPT2" EXACT [] synonym: "MEGF8-related condition" BROAD [] xref: MIM:614976 xref: MONDO:0013998 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060234 ! Carpenter syndrome created_by: mtutaj creation_date: 2025-03-04T14:54:29Z [Term] id: DOID:0061100 name: autosomal dominant primary microcephaly alt_id: DOID:9009299 def: "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. (DO)" [PMID:32910914 "DO"] synonym: "primary autosomal dominant microcephaly" EXACT [] xref: GARD:3605 xref: MONDO:0007988 xref: ORDO:2514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070297 ! primary microcephaly created_by: mtutaj creation_date: 2025-03-04T14:56:33Z [Term] id: DOID:0061101 name: immunodeficiency 132A alt_id: DOID:9001392 def: "A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. (DO)" [PMID:36004314 "DO"] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5" RELATED [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 5" RELATED [] synonym: "Herpes Simplex Encephalitis 3" EXACT [] synonym: "Herpes Simplex Encephalitis, Susceptibility To, 3" RELATED [] synonym: "IIAE5" EXACT [] synonym: "IMD132A" EXACT [] synonym: "TRAF3 HAPLOINSUFFICIENCY" EXACT [] synonym: "TRAF3-related condition" BROAD [] xref: MIM:614849 xref: MONDO:0013920 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9003870 ! Herpes Simplex Encephalitis created_by: mtutaj creation_date: 2025-03-04T14:59:19Z [Term] id: DOID:0061102 name: hypertrophic cardiomyopathy 27 alt_id: DOID:9009188 def: "A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. (DO)" [PMID:26846950 "DO"] synonym: "ALPK3-related condition" BROAD [] synonym: "CMH27" EXACT [] synonym: "familial hypertrophic cardiomyopathy 27" EXACT [] xref: MIM:618052 xref: MONDO:0054838 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: mtutaj creation_date: 2025-03-04T15:02:34Z [Term] id: DOID:0061103 name: retinitis pigmentosa 76 alt_id: DOID:9001993 def: "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. (DO)" [PMID:27391550 "DO"] synonym: "RP76" EXACT [] xref: MIM:617123 xref: MONDO:0014929 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:29:24Z [Term] id: DOID:0061104 name: retinitis pigmentosa 96 alt_id: DOID:9002289 def: "A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. (DO)" [PMID:28549094 "DO"] synonym: "autosomal dominant retinitis pigmentosa 96" EXACT [] synonym: "RP96" EXACT [] xref: MIM:620228 xref: MONDO:0859367 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:31:52Z [Term] id: DOID:0061105 name: retinitis pigmentosa 93 alt_id: DOID:9001186 def: "A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)" [PMID:30267408 "DO"] synonym: "RP93" EXACT [] xref: MIM:619845 xref: MONDO:0030797 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:36:27Z [Term] id: DOID:0061106 name: retinitis pigmentosa 91 alt_id: DOID:9000341 def: "A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. (DO)" [PMID:32817297 "DO"] synonym: "BCAMD" EXACT [] synonym: "benign concentric annular macular dystrophy" EXACT [] synonym: "bull's eye maculopathy" EXACT [] synonym: "Concentric Annular Macular Dystrophy" EXACT [] synonym: "IMPG1-related condition" BROAD [] synonym: "MCDCA" EXACT [] synonym: "RP91" EXACT [] xref: MESH:C537833 xref: MIM:153870 xref: MONDO:0007934 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:4448 ! macular degeneration created_by: mtutaj creation_date: 2025-04-02T17:40:17Z [Term] id: DOID:0061107 name: retinitis pigmentosa 92 alt_id: DOID:9003467 def: "A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. (DO)" [PMID:30085091 "DO"] synonym: "RP92" EXACT [] xref: MIM:619614 xref: MONDO:0030619 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:44:50Z [Term] id: DOID:0061108 name: retinitis pigmentosa 79 alt_id: DOID:9006996 def: "A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. (DO)" [PMID:25190649 "DO"] synonym: "RP79" EXACT [] xref: MIM:617460 xref: MONDO:0044320 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:46:24Z [Term] id: DOID:0061109 name: retinitis pigmentosa 98 alt_id: DOID:9009232 def: "A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. (DO)" [PMID:39191256 "DO"] synonym: "RP98" EXACT [] xref: MIM:620996 xref: MONDO:0975840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:48:20Z [Term] id: DOID:0061110 name: retinitis pigmentosa 97 alt_id: DOID:9005533 def: "A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. (DO)" [PMID:37012052 "DO"] synonym: "RP97" EXACT [] xref: MIM:620422 xref: MONDO:0957314 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:50:00Z [Term] id: DOID:0061111 name: retinitis pigmentosa 80 alt_id: DOID:9009101 def: "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)" [PMID:26359340 "DO"] synonym: "RETINAL CILIOPATHY DUE TO MUTATION IN THE RETINITIS PIGMENTOSA-1 GENE" EXACT [] synonym: "RP80" EXACT [] xref: MIM:617781 xref: MONDO:0054708 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:51:40Z [Term] id: DOID:0061112 name: retinitis pigmentosa 95 alt_id: DOID:9008145 def: "A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO)" [PMID:30377383 "DO"] synonym: "RP95" EXACT [] xref: MIM:620102 xref: MONDO:0859308 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:53:32Z [Term] id: DOID:0061113 name: retinitis pigmentosa 78 alt_id: DOID:9003675 def: "A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. (DO)" [PMID:28132693 "DO"] synonym: "ARHGEF18-related condition" BROAD [] synonym: "RP78" EXACT [] xref: MIM:617433 xref: MONDO:0044314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-02T17:56:05Z [Term] id: DOID:0061114 name: autosomal recessive intellectual developmental disorder 83 alt_id: DOID:9009296 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. (DO)" [PMID:39824192 "DO"] synonym: "MRT83" EXACT [] xref: MIM:621100 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2025-04-02T17:58:46Z [Term] id: DOID:0061115 name: Carey-Fineman-Ziter syndrome 1 alt_id: DOID:9008218 def: "A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. (DO)" [PMID:27232676 "DO"] synonym: "CFZS1" EXACT [] xref: MIM:254940 xref: MONDO:0800437 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080194 ! Carey-Fineman-Ziter syndrome created_by: mtutaj creation_date: 2025-04-02T18:03:09Z [Term] id: DOID:0061116 name: Carey-Fineman-Ziter syndrome 2 alt_id: DOID:9004768 def: "A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. (DO)" [PMID:39668186 "DO"] synonym: "CFZS2" EXACT [] xref: MIM:619941 xref: MONDO:0100292 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080194 ! Carey-Fineman-Ziter syndrome created_by: mtutaj creation_date: 2025-04-02T18:06:58Z [Term] id: DOID:0061117 name: Perrault syndrome 2 alt_id: DOID:9002768 def: "A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. (DO)" [PMID:21464306 "DO"] synonym: "HARS2-related condition" BROAD [] synonym: "PRLTS2" EXACT [] xref: MIM:614926 xref: MONDO:0013972 is_a: DOID:0050857 ! Perrault syndrome created_by: mtutaj creation_date: 2025-04-02T18:08:20Z [Term] id: DOID:0061118 name: autosomal dominant tubulointerstitial kidney disease 2 alt_id: DOID:9002900 def: "An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. (DO)" [PMID:31488840 "DO"] synonym: "ADMCKD1" EXACT [] synonym: "ADTKD2" EXACT [] synonym: "AUTOSOMAL DOMINANT MEDULLARY CYSTIC KIDNEY DISEASE WITH OR WITHOUT HYPERURICEMIA" EXACT [] synonym: "MCKD" EXACT [] synonym: "MCKD1" EXACT [] synonym: "Medullary cystic kidney disease 1" EXACT [] synonym: "Medullary cystic kidney disease, autosomal dominant" EXACT [] synonym: "medullary type polycystic kidneys" EXACT [] synonym: "MUC1-related condition" BROAD [] synonym: "tubulointerstitial kidney disease, autosomal dominant, 2" EXACT [] xref: MESH:C536137 xref: MIM:174000 xref: MONDO:0020726 is_a: DOID:0060062 ! autosomal dominant tubulointerstitial kidney disease created_by: mtutaj creation_date: 2025-04-02T18:10:52Z [Term] id: DOID:0061119 name: autosomal dominant tubulointerstitial kidney disease 4 alt_id: DOID:9005373 def: "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. (DO)" [PMID:19664745 "DO"] synonym: "ADTKD4" EXACT [] synonym: "early-onset hyperuricemia, anemia, and progressive kidney failure" EXACT [] synonym: "familial juvenile hyperuricemic nephropathy 2" EXACT [] synonym: "HNFJ2" EXACT [] synonym: "REN-related condition" BROAD [] synonym: "REN-related kidney disease" BROAD [] xref: MESH:C567760 xref: MIM:613092 xref: MONDO:0013128 is_a: DOID:0060062 ! autosomal dominant tubulointerstitial kidney disease is_a: DOID:1074 ! kidney failure is_a: DOID:2355 ! anemia created_by: mtutaj creation_date: 2025-04-02T18:23:51Z [Term] id: DOID:0061120 name: autosomal dominant tubulointerstitial kidney disease 5 alt_id: DOID:9004877 def: "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. (DO)" [PMID:27392076 "DO"] synonym: "ADTKD5" EXACT [] synonym: "familial juvenile hyperuricemic nephropathy 4" EXACT [] synonym: "HNFJ4" EXACT [] synonym: "HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE 4" EXACT [] xref: MIM:617056 xref: MONDO:0014891 is_a: DOID:0060062 ! autosomal dominant tubulointerstitial kidney disease created_by: mtutaj creation_date: 2025-04-02T18:40:00Z [Term] id: DOID:0061121 name: autosomal dominant tubulointerstitial kidney disease 6 alt_id: DOID:9009302 def: "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. (DO)" [PMID:38096951 "DO"] synonym: "ADTKD6" EXACT [] synonym: "APOA4-related disorder" EXACT [] xref: MIM:621106 xref: MONDO:0976234 is_a: DOID:0060062 ! autosomal dominant tubulointerstitial kidney disease created_by: mtutaj creation_date: 2025-04-02T18:41:26Z [Term] id: DOID:0061122 name: autosomal dominant tubulointerstitial kidney disease 1 alt_id: DOID:9007051 def: "An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. (DO)" [PMID:31488840 "DO"] synonym: "ADMCKD2" EXACT [] synonym: "ADTKD1" EXACT [] synonym: "familial gout-kidney disease" EXACT [] synonym: "familial gouty nephropathy" EXACT [] synonym: "FAMILIAL JUVENILE GOUT" NARROW [] synonym: "familial juvenile gouty nephropathy" EXACT [] synonym: "Familial Juvenile Hyperuricemic Nephropathy 1" EXACT [] synonym: "familial nephropathy with gout" EXACT [] synonym: "Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria" EXACT [] synonym: "HNFJ1" EXACT [] synonym: "Hyperuricemic Nephropathy, Familial Juvenile 1" EXACT [] synonym: "Juvenile Gout" EXACT [] synonym: "MCKD2" EXACT [] synonym: "Medullary Cystic Kidney Disease 2" EXACT [] synonym: "medullary cystic kidney disease 2, autosomal dominant" EXACT [] synonym: "medullary cystic kidney disease type II" EXACT [] synonym: "UMOD-associated kidney disease" BROAD [] synonym: "UMOD-related condition" BROAD [] synonym: "UMOD-related kidney disease" BROAD [] synonym: "uromodulin-associated kidney disease" EXACT [] synonym: "uromodulin storage disease" EXACT [] xref: EFO:0008618 xref: MESH:C537696 xref: MESH:C548033 xref: MESH:C563693 xref: MIM:162000 xref: MONDO:0008073 is_a: DOID:0060062 ! autosomal dominant tubulointerstitial kidney disease is_a: DOID:13189 ! gout is_a: DOID:2975 ! cystic kidney disease created_by: mtutaj creation_date: 2025-04-02T18:44:27Z [Term] id: DOID:0061123 name: visceral heterotaxy 14 alt_id: DOID:9009285 def: "A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36. (DO)" [PMID:39513328 "DO"] synonym: "HETEROTAXY, VISCERAL, 14, AUTOSOMAL" EXACT [] synonym: "HTX14" EXACT [] xref: MIM:621080 xref: MONDO:0976135 is_a: DOID:9000926 ! Visceroatrial Heterotaxy, Autosomal Recessive created_by: mtutaj creation_date: 2025-04-30T09:58:36Z [Term] id: DOID:0061124 name: autosomal recessive nonsyndromic deafness 125 alt_id: DOID:9008854 def: "An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14. (DO)" [PMID:33964205 "DO"] synonym: "autosomal recessive deafness 125" EXACT [] synonym: "DFNB125" EXACT [] xref: MIM:620877 xref: MONDO:0971152 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2025-04-30T10:02:34Z [Term] id: DOID:0061125 name: immunodeficiency 131 alt_id: DOID:9009293 def: "A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. (DO)" [PMID:36917008 "DO"] synonym: "IMD131" EXACT [] xref: MIM:621097 xref: MONDO:0976229 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:850 ! lung disease created_by: mtutaj creation_date: 2025-04-30T10:05:28Z [Term] id: DOID:0061126 name: Brunet-Wagner neurodevelopmental syndrome alt_id: DOID:9003939 def: "An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. (DO)" [PMID:33980986 "DO"] synonym: "BRUWAG" EXACT [] synonym: "RBL2-related condition" BROAD [] xref: MIM:619690 xref: MONDO:0859217 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2025-04-30T10:07:53Z [Term] id: DOID:0061127 name: retinitis pigmentosa 99 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1. (DO)" [PMID:20301590 "DO", PMID:25429852 "DO"] synonym: "RP99" EXACT [] is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2025-04-30T10:11:25Z [Term] id: DOID:0061128 name: mucopolysaccharidosis X alt_id: DOID:9000814 def: "A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15. (DO)" [PMID:34916232 "DO"] synonym: "ARSK deficiency" EXACT [] synonym: "arylsulfatase K deficiency" EXACT [] synonym: "MPS10" EXACT [] synonym: "MSP type X" EXACT [] synonym: "mucopolysaccharidosis due to ARSK deficiency" EXACT [] synonym: "mucopolysaccharidosis type X" EXACT [] xref: MIM:619698 xref: MONDO:0030524 xref: ORDO:662216 is_a: DOID:12798 ! mucopolysaccharidosis created_by: mtutaj creation_date: 2025-04-30T10:13:15Z [Term] id: DOID:0061129 name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities alt_id: DOID:9009213 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. (DO)" [PMID:30057029 "DO"] synonym: "FBXO11-related condition" BROAD [] synonym: "FBXO11-related NDD" EXACT [] synonym: "FBXO11-related neurodevelopmental disorder" EXACT [] synonym: "IDDFBA" EXACT [] xref: MIM:618089 xref: MONDO:0060760 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2025-04-30T10:46:40Z [Term] id: DOID:0061130 name: autosomal recessive limb-girdle muscular dystrophy type 28 alt_id: DOID:9005846 def: "An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. (DO)" [PMID:36745799 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy-28" EXACT [] synonym: "LGMDR28" EXACT [] synonym: "Limb-girdle, type 28R" EXACT [] synonym: "MYOPATHY, LIMB-GIRDLE, ADULT-ONSET" EXACT [] synonym: "MYPLG" BROAD [] xref: MIM:620375 xref: MONDO:0957270 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2025-04-30T10:50:13Z [Term] id: DOID:0061131 name: autosomal recessive limb-girdle muscular dystrophy type 26 alt_id: DOID:9002441 def: "An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21. (DO)" [PMID:31610034 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy-26" EXACT [] synonym: "LGMDR26" EXACT [] xref: MIM:618848 xref: MONDO:0030014 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2025-04-30T10:52:55Z [Term] id: DOID:0061132 name: autosomal recessive limb-girdle muscular dystrophy type 23 alt_id: DOID:9008732 def: "An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO)" [PMID:24957499 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 23" EXACT [] synonym: "LAMA2-related condition" BROAD [] synonym: "LGMDR23" EXACT [] xref: MIM:618138 xref: MONDO:0029136 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2025-04-30T10:54:47Z [Term] id: DOID:0061133 name: autosomal recessive limb-girdle muscular dystrophy type 27 alt_id: DOID:9005234 def: "An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. (DO)" [PMID:33861953 "DO"] synonym: "JAG2-related condition" BROAD [] synonym: "LGMDR27" EXACT [] synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27" EXACT [] xref: MIM:619566 xref: MONDO:0030456 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2025-04-30T10:57:16Z [Term] id: DOID:0061134 name: autosomal recessive limb-girdle muscular dystrophy type 29 alt_id: DOID:9006407 def: "An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. (DO)" [PMID:38413582 "DO"] synonym: "LGMDR29" EXACT [] synonym: "SNUPN DEFICIENCY MUSCULAR DYSTROPHY" EXACT [] xref: MIM:620793 xref: MONDO:0971171 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2025-04-30T10:59:18Z [Term] id: DOID:0061135 name: infantile hypercalcemia 2 alt_id: DOID:9000264 def: "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [PMID:26047794 "DO"] synonym: "HCINF2" EXACT [] synonym: "Hypercalcemia, Infantile, 2" EXACT [] xref: MIM:616963 xref: MONDO:0014851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005216 ! Infantile Hypercalcemia created_by: mtutaj creation_date: 2025-05-30T11:26:59Z [Term] id: DOID:0061136 name: infantile hypercalcemia 1 alt_id: DOID:9007094 def: "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. (DO)" [PMID:21675912 "DO"] synonym: "CYP24A1-related condition" BROAD [] synonym: "HCINF1" EXACT [] synonym: "Idiopathic Hypercalcemia of Infancy" EXACT [] xref: MESH:C562581 xref: MIM:143880 xref: MONDO:0020739 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005216 ! Infantile Hypercalcemia created_by: mtutaj creation_date: 2025-05-30T11:30:06Z [Term] id: DOID:0061137 name: spinocerebellar ataxia 27B alt_id: DOID:9006713 def: "An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. (DO)" [PMID:36516086 "DO"] synonym: "SCA27B" EXACT [] synonym: "spinocerebellar ataxia 27B, late-onset" EXACT [] synonym: "spinocerebellar ataxia type 27B" EXACT [] xref: MIM:620174 xref: MONDO:0859340 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: mtutaj creation_date: 2025-05-30T11:32:31Z [Term] id: DOID:0061138 name: complex cortical dysplasia with other brain malformations 9 alt_id: DOID:9001005 def: "A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. (DO)" [PMID:30013181 "DO"] synonym: "CDCBM9" EXACT [] synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9" EXACT [] synonym: "CTNNA2-related condition" BROAD [] xref: MIM:618174 xref: MONDO:0032578 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2025-05-30T11:34:18Z [Term] id: DOID:0061139 name: coronary atherosclerosis def: "An atherosclerosis of the coronary vasculature. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK218744/ "DO"] xref: NCI:C35505 is_a: DOID:1936 ! atherosclerosis created_by: mtutaj creation_date: 2025-05-30T11:36:37Z [Term] id: DOID:0061140 name: ragopathy def: "A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. (DO)" [https://www.nature.com/articles/s41467-024-50034-4 "DO"] is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2025-05-30T11:38:16Z [Term] id: DOID:0061141 name: complex cortical dysplasia with other brain malformations 12 alt_id: DOID:9004966 def: "A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. (DO)" [PMID:36283405 "DO"] synonym: "CAMSAP1-RELATED NEURONAL MIGRATION DISORDER" EXACT [] synonym: "CDCBM12" EXACT [] synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12" EXACT [] xref: MIM:620316 xref: MONDO:0957217 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2025-05-30T11:38:32Z [Term] id: DOID:0061142 name: complex cortical dysplasia with other brain malformations 11 alt_id: DOID:9007250 def: "A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. (DO)" [PMID:36228617 "DO"] synonym: "CDCBM11" EXACT [] xref: MIM:620156 xref: MONDO:0859332 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2025-05-30T11:38:49Z [Term] id: DOID:0061143 name: complex cortical dysplasia with other brain malformations 10 alt_id: DOID:9007534 def: "A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. (DO)" [PMID:31585108 "DO"] synonym: "APC2-related condition" BROAD [] synonym: "CDCBM10" EXACT [] xref: MIM:618677 xref: MONDO:0032866 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2025-05-30T11:39:07Z [Term] id: DOID:0061144 name: complex cortical dysplasia with other brain malformations 13 def: "A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [PMID:23603762 "DO"] synonym: "CDCBM13" EXACT [] xref: MIM:614563 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2025-05-30T11:39:26Z [Term] id: DOID:0061145 name: monilethrix 1 alt_id: DOID:9009326 def: "A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13. (DO)" [PMID:25557232 "DO"] synonym: "KRT86-related condition" BROAD [] synonym: "MNLIX1" EXACT [] xref: MIM:158000 is_a: DOID:0050472 ! monilethrix created_by: mtutaj creation_date: 2025-06-27T16:01:02Z [Term] id: DOID:0061146 name: Pan-Chung-Bellen syndrome alt_id: DOID:9009301 def: "A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. (DO)" [PMID:38479391 "DO"] synonym: "PCBS" EXACT [] xref: MIM:621049 xref: MONDO:0975953 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2025-05-30T11:53:10Z [Term] id: DOID:0061147 name: neurodevelopmental disorder with or without autism or seizures alt_id: DOID:9004952 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. (DO)" [PMID:32341456 "DO"] synonym: "CUL3-related condition" BROAD [] synonym: "CUL3-related disorder" BROAD [] synonym: "NEDAUS" EXACT [] xref: MIM:619239 xref: MONDO:0030994 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2025-05-30T11:56:26Z [Term] id: DOID:0061148 name: hereditary congenital ptosis 2 alt_id: DOID:9004293 def: "A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome. (DO)" [PMID:10739771 "DO"] synonym: "Congenital Ptosis, Hereditary 2" EXACT [] synonym: "PTOS2" EXACT [] synonym: "Ptosis, X-Linked" EXACT [] synonym: "PTOSX" EXACT [] xref: MESH:C564553 xref: MIM:300245 xref: MONDO:0010280 is_a: DOID:0060261 ! congenital ptosis is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2025-06-27T17:13:46Z [Term] id: DOID:0061149 name: hereditary congenital ptosis 1 alt_id: DOID:9004781 def: "A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:5057864 "DO"] synonym: "PTOS1" EXACT [] synonym: "ZFHX4-related condition" BROAD [] xref: MESH:C566737 xref: MIM:178300 xref: MONDO:0008340 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060261 ! congenital ptosis created_by: mtutaj creation_date: 2025-06-27T17:15:41Z [Term] id: DOID:0061150 name: familial isolated hypoparathyroidism 1 alt_id: DOID:9000492 def: "A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15. (DO)" [PMID:11504667 "DO"] synonym: "Familial Isolated Hypoparathyroidism 1" EXACT [] synonym: "FIH1" EXACT [] xref: MIM:146200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111387 ! familial isolated hypoparathyroidism created_by: mtutaj creation_date: 2025-06-27T17:19:23Z [Term] id: DOID:0061151 name: familial isolated hypoparathyroidism 2 alt_id: DOID:9002627 def: "A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene. (DO)" [PMID:15728199 "DO"] synonym: "FIH2" EXACT [] synonym: "GCM2-related condition" BROAD [] xref: MIM:618883 xref: MONDO:0020798 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111387 ! familial isolated hypoparathyroidism created_by: mtutaj creation_date: 2025-06-30T09:27:00Z [Term] id: DOID:0061152 name: monilethrix 2 alt_id: DOID:9009327 def: "A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13. (DO)" [PMID:9665406 "DO"] synonym: "KRT81-related disorder" EXACT [] synonym: "MNLIX2" EXACT [] xref: MIM:621169 xref: MONDO:0700341 is_a: DOID:0050472 ! monilethrix created_by: mtutaj creation_date: 2025-06-30T09:30:17Z [Term] id: DOID:0061153 name: monilethrix 3 alt_id: DOID:9009328 def: "A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13. (DO)" [PMID:9665406 "DO"] synonym: "KRT83-related condition" BROAD [] synonym: "MNLIX3" EXACT [] xref: MIM:621170 is_a: DOID:0050472 ! monilethrix created_by: mtutaj creation_date: 2025-06-30T09:32:04Z [Term] id: DOID:0061154 name: Mulvihill-Smith syndrome alt_id: DOID:9008642 def: "A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development. (DO)" [PMID:19213035 "DO"] synonym: "progeria-short stature-pigmented nevi" EXACT [] synonym: "progeroid short stature with pigmented nevi" EXACT [] xref: MESH:C536422 xref: MIM:176690 xref: MONDO:0008311 xref: ORDO:2959 is_a: DOID:3911 ! progeria is_a: DOID:9005120 ! Pigmented Nevus is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2025-06-30T09:33:19Z [Term] id: DOID:0061155 name: kyphomelic dysplasia alt_id: DOID:9001524 def: "A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23. (DO)" [PMID:39506047 "DO"] synonym: "congenital bowing with short bones" EXACT [] synonym: "KMD" EXACT [] synonym: "pseudocampomelia" EXACT [] xref: MESH:C538128 xref: MIM:211350 xref: MONDO:0008881 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:0080006 ! bone development disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2025-08-04T09:32:36Z [Term] id: DOID:0061156 name: CASGID syndrome alt_id: DOID:9001649 def: "A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32. (DO)" [PMID:37151363 "DO"] synonym: "CASGID" EXACT [] synonym: "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" EXACT [] xref: MIM:618339 xref: MONDO:0032685 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2025-08-04T09:35:39Z [Term] id: DOID:0061157 name: retinopathy-sensory neuropathy syndrome alt_id: DOID:9008679 def: "A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. (DO)" [PMID:39306721 "DO"] synonym: "AXPC1" EXACT [] synonym: "FLVCR1-related condition" BROAD [] synonym: "PCARP" EXACT [] synonym: "posterior column ataxia with retinitis pigmentosa" EXACT [] synonym: "RETSNS" EXACT [] xref: GARD:9898 xref: MESH:C536343 xref: MIM:609033 xref: MONDO:0012177 xref: ORDO:88628 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia created_by: mtutaj creation_date: 2025-08-04T09:38:20Z [Term] id: DOID:0061158 name: Kariminejad neurodevelopmental syndrome alt_id: DOID:9009074 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25. (DO)" [PMID:35652444 "DO"] synonym: "KAREVS" EXACT [] synonym: "KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME" EXACT [] xref: MIM:620937 xref: MONDO:0975795 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2025-08-04T09:40:33Z [Term] id: DOID:0061159 name: infantile onset multisystem autoimmune disease alt_id: DOID:9002419 def: "An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset. (DO)" [https://omim.org/phenotypicSeries/PS615952 "DO"] xref: MIM:PS615952 xref: MONDO:0000213 is_a: DOID:417 ! autoimmune disease created_by: mtutaj creation_date: 2025-08-04T09:43:10Z [Term] id: DOID:0061160 name: infantile onset multisystem autoimmune disease 1 alt_id: DOID:9000347 def: "An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21. (DO)" [PMID:25359994 "DO"] synonym: "ADMIO1" EXACT [] synonym: "STAT3-related conditions" BROAD [] synonym: "STAT3-RELATED DISORDER" BROAD [] synonym: "STAT3-related early-onset multisystem autoimmune disease" EXACT [] xref: MIM:615952 xref: MONDO:0014414 xref: NCI:C157123 xref: ORDO:438159 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0061159 ! infantile onset multisystem autoimmune disease created_by: mtutaj creation_date: 2025-08-04T09:48:45Z [Term] id: DOID:0061161 name: infantile onset multisystem autoimmune disease 2 alt_id: DOID:9005984 def: "An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12. (DO)" [PMID:26783323 "DO"] synonym: "ADMIO2" EXACT [] synonym: "ZAP70-related condition" BROAD [] xref: MIM:617006 xref: MONDO:0014861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061159 ! infantile onset multisystem autoimmune disease created_by: mtutaj creation_date: 2025-08-04T09:48:53Z [Term] id: DOID:0061162 name: infantile onset multisystem autoimmune disease 3 alt_id: DOID:9003588 def: "An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13. (DO)" [PMID:36006710 "DO"] synonym: "ADMIO3" EXACT [] synonym: "CBLB deficiency" EXACT [] synonym: "CBLB-related condition" BROAD [] xref: MIM:620430 xref: MONDO:0957388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061159 ! infantile onset multisystem autoimmune disease created_by: mtutaj creation_date: 2025-08-04T09:49:05Z [Term] id: DOID:0061163 name: infantile onset multisystem autoimmune disease 4 alt_id: DOID:9009264 def: "An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37. (DO)" [PMID:34183838 "DO"] synonym: "AIMTBS" EXACT [] synonym: "autoimmune disease with susceptibility to mycobacterium tuberculosis" EXACT [] xref: MIM:621004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061159 ! infantile onset multisystem autoimmune disease is_a: DOID:399 ! tuberculosis created_by: mtutaj creation_date: 2025-08-04T09:49:16Z [Term] id: DOID:0061164 name: infantile onset multisystem autoimmune disease 5 def: "An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24. (DO)" [PMID:38634869 "DO"] xref: MIM:621235 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061159 ! infantile onset multisystem autoimmune disease created_by: mtutaj creation_date: 2025-08-04T09:49:27Z [Term] id: DOID:0061165 name: proximal renal tubular acidosis def: "A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. (DO)" [PMID:888846 "DO"] synonym: "proximal renal tubular acidosis with ocular abnormalities" NARROW [] synonym: "proximal type RTA" EXACT [] synonym: "renal tubular acidosis II" EXACT [] synonym: "type II renal tubular acidosis" EXACT [] xref: MIM:179830 xref: ORDO:47159 is_a: DOID:14219 ! renal tubular acidosis created_by: mtutaj creation_date: 2025-08-04T09:59:04Z [Term] id: DOID:0061166 name: autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss alt_id: DOID:9005808 def: "A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34. (DO)" [PMID:10577919 "DO"] synonym: "autosomal recessive renal tubular acidosis with preserved hearing" NARROW [] synonym: "distal renal tubular acidosis 3, autosomal recessive" EXACT [] synonym: "distal renal tubular acidosis, autosomal recessive, with late-onset sensorineural hearing loss" NARROW [] synonym: "distal renal tubular acidosis, recessive" BROAD [] synonym: "distal RTA, autosomal recessive" BROAD [] synonym: "DRTA3" EXACT [] synonym: "RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS" EXACT [] synonym: "RTADR" EXACT [] xref: MESH:C537758 xref: MESH:C566428 xref: MIM:602722 xref: MONDO:0011268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9007406 ! Distal Renal Tubular Acidosis created_by: mtutaj creation_date: 2025-08-04T10:11:11Z [Term] id: DOID:0061167 name: autosomal recessive proximal renal tubular acidosis def: "A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. (DO)" [PMID:23235953 "DO"] xref: ORDO:93607 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061165 ! proximal renal tubular acidosis created_by: mtutaj creation_date: 2025-08-04T10:15:51Z [Term] id: DOID:0061168 name: mitochondrial axonal Charcot-Marie-Tooth disease alt_id: DOID:9003317 def: "A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome. (DO)" [PMID:32715519 "DO"] synonym: "CMTMA1" EXACT [] synonym: "mitochondrial form of axonal Charcot-Marie-Tooth disease 1" EXACT [] xref: MIM:500013 xref: MONDO:0025622 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: mtutaj creation_date: 2025-08-04T10:18:46Z [Term] id: DOID:0061169 name: autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome def: "An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15. (DO)" [PMID:38630025 "DO", PMID:38652464 "DO"] synonym: "AIPDSA" NARROW [] synonym: "autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant" NARROW [] xref: MIM:621030 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0061170 ! autoinflammation, panniculitis, and dermatosis syndrome created_by: mtutaj creation_date: 2025-08-04T10:21:15Z [Term] id: DOID:0061170 name: autoinflammation, panniculitis, and dermatosis syndrome def: "An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity. (DO)" [PMID:27523608 "DO", PMID:27559085 "DO", PMID:38630025 "DO", PMID:38652464 "DO"] xref: MIM:PS617099 is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:1526 ! panniculitis created_by: mtutaj creation_date: 2025-08-04T10:23:15Z [Term] id: DOID:0061171 name: immunodeficiency 130 with HPV-related verrucosis alt_id: DOID:0061095 alt_id: DOID:9004313 def: "A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. (DO)" [PMID:39352394 "DO"] synonym: "epidermodysplasia verruciformis 5" EXACT [] synonym: "epidermodysplasia verruciformis, susceptibility to, 5" EXACT [] synonym: "EV5" EXACT [] synonym: "IL7-related condition" BROAD [] synonym: "IMD130" EXACT [] synonym: "immunodeficiency 130" EXACT [] xref: MIM:618309 xref: MONDO:0032667 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:11200 ! T cell deficiency is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: mtutaj creation_date: 2025-08-04T10:31:23Z [Term] id: DOID:0061172 name: transient neonatal diabetes mellitus 3 alt_id: DOID:9001250 def: "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. (DO)" [PMID:15784703 "DO"] synonym: "TNDM3" EXACT [] xref: MESH:C566432 xref: MIM:610582 xref: MONDO:0012522 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060334 ! transient neonatal diabetes mellitus created_by: mtutaj creation_date: 2025-08-04T10:35:00Z [Term] id: DOID:0061173 name: transient neonatal diabetes mellitus 1 alt_id: DOID:9004783 def: "A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. (DO)" [PMID:10895036 "DO"] synonym: "6q24-related diabetes mellitus" EXACT [] synonym: "6q24-related transient neonatal diabetes mellitus" EXACT [] synonym: "6q24-Tndm" EXACT [] synonym: "TNDM1" EXACT [] synonym: "TNDM type 1" EXACT [] synonym: "ZFP57-related condition" BROAD [] xref: MESH:C563322 xref: MESH:C579872 xref: MIM:601410 xref: MONDO:0011073 is_a: DOID:0060334 ! transient neonatal diabetes mellitus created_by: mtutaj creation_date: 2025-08-04T10:37:05Z [Term] id: DOID:0061174 name: transient neonatal diabetes mellitus 2 alt_id: DOID:9005129 def: "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15. (DO)" [PMID:16885549 "DO"] synonym: "TNDM2" EXACT [] xref: MESH:C563672 xref: MIM:610374 xref: MONDO:0012480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060334 ! transient neonatal diabetes mellitus created_by: mtutaj creation_date: 2025-08-31T18:20:58Z [Term] id: DOID:0061175 name: Gollop-Wolfgang complex alt_id: DOID:9002821 def: "A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. (DO)" [PMID:38275609 "DO"] synonym: "bifid femur with monodactylous ectrodactyly" EXACT [] synonym: "GWC" EXACT [] synonym: "unilateral bifid femur with monodactylous ectrodactyly" EXACT [] xref: MESH:C537917 xref: MIM:228250 xref: MONDO:0009222 is_a: DOID:0080015 ! physical disorder is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2025-08-31T18:23:18Z [Term] id: DOID:0061176 name: developmental and epileptic encephalopathy 118 def: "A developmental and epileptic encephalopathy characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21. (DO)" [PMID:37421948 "DO"] xref: MIM:621250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2025-08-31T18:27:05Z [Term] id: DOID:0061177 name: X-linked spermatogenic failure 9 alt_id: DOID:9009277 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22. (DO)" [PMID:37843278 "DO"] synonym: "SPGFX9" EXACT [] xref: MIM:301137 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2025-08-31T18:39:58Z [Term] id: DOID:0061178 name: autosomal recessive congenital nystagmus 8 def: "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. (DO)" [PMID:35348658 "DO"] synonym: "congenital nystagmus 8" EXACT [] synonym: "congenital nystagmus 8, autosomal recessive" EXACT [] synonym: "NYS8" EXACT [] xref: MIM:257400 is_a: DOID:0111797 ! autosomal recessive congenital nystagmus created_by: mtutaj creation_date: 2025-08-31T18:41:53Z [Term] id: DOID:0061179 name: Adams-Oliver syndrome 3 alt_id: DOID:9006275 def: "An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15. (DO)" [PMID:22883147 "DO"] synonym: "AOS3" EXACT [] synonym: "RBPJ-related condition" EXACT [] xref: MIM:614814 xref: MONDO:0013895 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060227 ! Adams-Oliver syndrome created_by: mtutaj creation_date: 2025-08-31T18:46:42Z [Term] id: DOID:0061180 name: familial hypercholanemia 3 alt_id: DOID:9004162 def: "A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31. (DO)" [PMID:23415802 "DO"] synonym: "BAAT-RELATED CONDITION" EXACT [] synonym: "BACD1" EXACT [] synonym: "BILE ACID CONJUGATION DEFECT 1" EXACT [] synonym: "FHCA3" EXACT [] synonym: "Hypercholanemia, familial 3" EXACT [] xref: MIM:619232 xref: MONDO:0030991 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004644 ! Avitaminosis is_a: DOID:9007118 ! Familial Hypercholanemia created_by: mtutaj creation_date: 2025-08-31T18:49:16Z [Term] id: DOID:0061181 name: familial hypercholanemia 1 alt_id: DOID:9005961 def: "A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21. (DO)" [PMID:10889168 "DO"] synonym: "FHCA1" EXACT [] synonym: "TJP2-related condition" BROAD [] xref: MIM:607748 xref: MONDO:0031446 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007118 ! Familial Hypercholanemia created_by: mtutaj creation_date: 2025-08-31T18:52:03Z [Term] id: DOID:0061182 name: familial hypercholanemia 2 alt_id: DOID:9003473 def: "A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24. (DO)" [PMID:28835676 "DO"] synonym: "FHCA2" EXACT [] synonym: "NTCP deficiency" EXACT [] synonym: "SLC10A1-RELATED CONDITION" EXACT [] xref: MIM:619256 xref: MONDO:0031003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007118 ! Familial Hypercholanemia created_by: mtutaj creation_date: 2025-08-31T18:56:05Z [Term] id: DOID:0061183 name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 alt_id: DOID:9001244 def: "A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12. (DO)" [PMID:34935254 "DO"] synonym: "MMCKR1" EXACT [] xref: MIM:620138 xref: MONDO:0859322 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009406 ! Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis created_by: mtutaj creation_date: 2025-08-31T18:58:41Z [Term] id: DOID:0061184 name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 alt_id: DOID:9009249 def: "A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12. (DO)" [PMID:36799992 "DO"] synonym: "DTNA-RELATED DISORDER" BROAD [] synonym: "MMCKR2" EXACT [] xref: MIM:620971 xref: MONDO:0975830 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009406 ! Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis created_by: mtutaj creation_date: 2025-08-31T19:02:24Z [Term] id: DOID:0061185 name: autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia alt_id: DOID:9007392 def: "A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. (DO)" [PMID:26025129 "DO"] synonym: "AICZC" EXACT [] synonym: "hyperzincemia with functional zinc depletion" EXACT [] synonym: "HZHC syndrome" EXACT [] xref: MESH:C566595 xref: MIM:601979 xref: MONDO:0011174 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002944 ! Hyperzincemia and Hypercalprotectinemia created_by: mtutaj creation_date: 2025-08-31T19:04:48Z [Term] id: DOID:0061186 name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency alt_id: DOID:9002882 def: "A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase. (DO)" [PMID:11241049 "DO", PMID:34878152 "DO", PMID:37644104 "DO"] synonym: "deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase" EXACT [] synonym: "deficiency of long-chain acyl-CoA dehydrogenase" EXACT [] synonym: "HADHA-related condition" BROAD [] synonym: "HADHA-related disorder" BROAD [] synonym: "LCHAD deficiency" EXACT [] synonym: "LCHAD deficiency with maternal acute fatty liver of pregnancy" EXACT [] synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:6867 xref: MESH:C535690 xref: MIM:609016 xref: MONDO:0012173 xref: NCI:C129929 xref: ORDO:5 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder created_by: mtutaj creation_date: 2025-08-31T19:08:30Z [Term] id: DOID:0061187 name: multiple familial trichoepithelioma 1 def: "A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)" [PMID:8436650 "DO"] synonym: "Brooke-Fordyce trichoepitheliomas" EXACT [] synonym: "EAC" EXACT [] synonym: "epithelioma adenoides cysticum of Brooke" EXACT [] synonym: "hereditary multiple benign cystic epithelioma" EXACT [] synonym: "MFT1" EXACT [] xref: MIM:601606 xref: MONDO:0042977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3134 ! facial dermatosis created_by: mtutaj creation_date: 2025-08-31T19:12:48Z [Term] id: DOID:0061188 name: autosomal recessive sensory neuropathy with spastic paraplegia alt_id: DOID:9000572 def: "A hereditary sensory neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene. (DO)" [PMID:16333315 "DO"] synonym: "CCT5-RELATED DISORDER" EXACT [] synonym: "HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH SPASTIC PARAPLEGIA" EXACT [] xref: MESH:C564948 xref: MIM:256840 xref: MONDO:0009748 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2477 ! motor peripheral neuropathy created_by: mtutaj creation_date: 2025-08-31T19:25:20Z [Term] id: DOID:0061189 name: neuronal ceroid lipofuscinosis 15 alt_id: DOID:9002301 def: "A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36. (DO)" [PMID:33217309 "DO"] synonym: "childhood-onset neurodegeneration with hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT [] synonym: "CLCN6-related condition" EXACT [] synonym: "CLN15" EXACT [] synonym: "CONRIBA" EXACT [] xref: MIM:619173 xref: MONDO:0030947 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11162 ! respiratory failure is_a: DOID:14503 ! neuronal ceroid lipofuscinosis is_a: DOID:8670 ! eating disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2025-09-02T08:40:28Z [Term] id: DOID:0061190 name: ReNU syndrome alt_id: DOID:9008807 def: "An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. (DO)" [PMID:38821540 "DO"] synonym: "NEDHAFA" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE" EXACT [] synonym: "neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA)" EXACT [] synonym: "RENU" EXACT [] synonym: "RNU4-2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:620851 xref: MONDO:0971172 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2025-09-02T08:43:04Z [Term] id: DOID:0061191 name: neonatal nephrocutaneous inflammatory syndrome alt_id: DOID:9006586 def: "An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11. (DO)" [PMID:36017778 "DO"] synonym: "EGFR-RELATED CONDITION" BROAD [] synonym: "neonatal inflammatory skin and bowel disease 2" EXACT [] synonym: "NISBD2" EXACT [] synonym: "NNCIS" EXACT [] xref: MIM:616069 xref: MONDO:0014481 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:820 ! myocarditis is_a: DOID:9008088 ! Neonatal Inflammatory Skin and Bowel Disease created_by: mtutaj creation_date: 2025-09-30T14:07:37Z [Term] id: DOID:0061192 name: neonatal inflammatory skin and bowel disease 1 alt_id: DOID:9001556 def: "An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25. (DO)" [PMID:22010916 "DO"] synonym: "ADAM17-RELATED CONDITION" EXACT [] synonym: "NISBD1" EXACT [] xref: MIM:614328 xref: MONDO:0013693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:820 ! myocarditis is_a: DOID:9008088 ! Neonatal Inflammatory Skin and Bowel Disease created_by: mtutaj creation_date: 2025-09-30T14:10:26Z [Term] id: DOID:0061193 name: nephrotic syndrome type 26 alt_id: DOID:9005870 def: "A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13. (DO)" [PMID:35419533 "DO"] synonym: "LAMA5-RELATED CONDITION" BROAD [] synonym: "NPHS26" EXACT [] xref: MIM:620049 xref: MONDO:0031061 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2025-09-30T14:13:05Z [Term] id: DOID:0061194 name: nephrotic syndrome type 24 alt_id: DOID:9003441 def: "A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. (DO)" [PMID:33232676 "DO"] synonym: "DAAM2-RELATED CONDITION" EXACT [] synonym: "NPHS24" EXACT [] xref: MIM:619263 xref: MONDO:0031008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2025-09-30T14:15:22Z [Term] id: DOID:0061195 name: proximal renal tubular acidosis-ocular anomaly syndrome alt_id: DOID:9007464 def: "A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13. (DO)" [PMID:10577919 "DO"] synonym: "autosomal recessive proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development" EXACT [] synonym: "proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development" EXACT [] synonym: "proximal renal tubular acidosis with ocular abnormalities and mental retardation" EXACT [] synonym: "proximal RTA, autosomal recessive" EXACT [] synonym: "PRTAO" EXACT [] synonym: "SLC4A4-RELATED CONDITION" EXACT [] xref: MESH:C567038 xref: MIM:604278 xref: MONDO:0011422 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061165 ! proximal renal tubular acidosis is_a: DOID:1059 ! intellectual disability is_a: DOID:1686 ! glaucoma created_by: mtutaj creation_date: 2025-11-03T08:02:12Z [Term] id: DOID:0061196 name: Mietens syndrome alt_id: DOID:9007451 def: "A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. (DO)" [https://www.orpha.net/en/disease/detail/2557 "DO"] synonym: "mental retardation, Mietens-Weber type" EXACT [] synonym: "mental retardation syndrome, Mietens-Weber type" EXACT [] synonym: "Mietens-Weber syndrome" EXACT [] xref: MESH:C537444 xref: MIM:249600 xref: MONDO:0009582 xref: ORDO:2557 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9008606 ! Corneal Opacity is_a: DOID:9649 ! congenital nystagmus created_by: mtutaj creation_date: 2025-11-03T08:05:28Z [Term] id: DOID:0061197 name: BCARD syndrome alt_id: DOID:9004209 def: "A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22. (DO)" [PMID:31129566 "DO"] synonym: "BCARD" EXACT [] synonym: "BONE ABNORMALITIES, CATARACT, ARTERIAL RUPTURE, AND DEAFNESS" EXACT [] synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [] synonym: "LH3 Deficiency" EXACT [] synonym: "Lysyl Hydroxylase 3 Deficiency" EXACT [] synonym: "PLOD3-RELATED CONDITION" EXACT [] synonym: "PLOD3-RELATED DISORDER" EXACT [] xref: MESH:C567320 xref: MIM:612394 xref: MONDO:0012892 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9006836 ! Contracture is_a: DOID:9008810 ! Spontaneous Rupture created_by: mtutaj creation_date: 2025-11-03T08:08:34Z [Term] id: DOID:0061198 name: Bethlem myopathy 1A alt_id: DOID:9001550 def: "A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO)" [PMID:24038877 "DO"] synonym: "Bethlem myopathy 1" BROAD [] synonym: "Bethlem myopathy 1, autosomal recessive" NARROW [] synonym: "BTHLM1" BROAD [] synonym: "BTHLM1A" EXACT [] synonym: "COL6A1-related condition" BROAD [] synonym: "COL6A1-related disorder" BROAD [] xref: MIM:158810 xref: MONDO:0024530 xref: NCI:C126688 is_a: DOID:0050663 ! Bethlem myopathy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2025-11-03T08:19:48Z [Term] id: DOID:0061199 name: Bethlem myopathy 1B alt_id: DOID:9006719 def: "A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)" [PMID:24038877 "DO"] synonym: "BTHLM1B" EXACT [] xref: MIM:620725 xref: MONDO:0958233 is_a: DOID:0050663 ! Bethlem myopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-11-03T08:22:02Z [Term] id: DOID:0061200 name: Bethlem myopathy 1C alt_id: DOID:9008274 def: "A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. (DO)" [PMID:24038877 "DO"] synonym: "BTHLM1C" EXACT [] xref: MIM:620726 xref: MONDO:0958234 is_a: DOID:0050663 ! Bethlem myopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-11-03T08:23:28Z [Term] id: DOID:0061201 name: Bethlem myopathy 2 alt_id: DOID:9006278 def: "A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q. (DO)" [PMID:24334604 "DO"] synonym: "BTHLM2" EXACT [] synonym: "COL12A1-related condition" BROAD [] synonym: "EDS, myopathic type" EXACT [] synonym: "EDSMYP" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE" EXACT [] xref: MIM:616471 xref: MONDO:0034022 is_a: DOID:0050663 ! Bethlem myopathy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2025-11-03T08:24:41Z [Term] id: DOID:0061202 name: congenital muscular dystrophy with rapid progression alt_id: DOID:9003958 def: "A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21. (DO)" [PMID:34779586 "DO"] synonym: "MDRP" EXACT [] xref: MESH:C564983 xref: MIM:254100 xref: MONDO:0009682 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2025-11-03T08:26:08Z [Term] id: DOID:0061203 name: maple syrup urine disease type IA alt_id: DOID:9008834 def: "A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13. (DO)" [PMID:7182976 "DO"] synonym: "BCKDHA-RELATED DISORDER" EXACT [] synonym: "Maple Syrup Urine Disease, Intermediate, Type IA" EXACT [] synonym: "Maple Syrup Urine Disease, Type 1A" EXACT [] synonym: "MSUD1A" EXACT [] xref: MESH:C535710 xref: MIM:248600 xref: MONDO:0023691 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9269 ! maple syrup urine disease created_by: mtutaj creation_date: 2025-11-03T08:27:46Z [Term] id: DOID:0061204 name: dihydrolipoamide dehydrogenase deficiency alt_id: DOID:9002135 def: "A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31. (DO)" [PMID:8968745 "DO"] synonym: "Congenital Infantile Lactic Acidosis due to LAD Deficiency" EXACT [] synonym: "DLDD" EXACT [] synonym: "DLD deficiency" EXACT [] synonym: "DLD-RELATED DISORDER" EXACT [] synonym: "E3 Deficiency" EXACT [] synonym: "Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to" EXACT [] synonym: "maple syrup urine disease, type 3" EXACT [] synonym: "maple syrup urine disease, type III" EXACT [] xref: MESH:C573012 xref: MIM:246900 xref: MONDO:0009529 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004872 ! Congenital Infantile Lactic Acidosis is_a: DOID:9269 ! maple syrup urine disease created_by: mtutaj creation_date: 2025-11-03T08:30:01Z [Term] id: DOID:0061205 name: mild variant of maple syrup urine disease def: "A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22. (DO)" [PMID:23086801 "DO"] synonym: "maple syrup urine disease, mild variant" EXACT [] synonym: "PPM1K-RELATED CONDITION" EXACT [] xref: MIM:615135 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9269 ! maple syrup urine disease created_by: mtutaj creation_date: 2025-11-03T08:32:49Z [Term] id: DOID:0061206 name: maple syrup urine disease type IB alt_id: DOID:9007006 def: "A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14. (DO)" [PMID:7883996 "DO"] synonym: "BCKDHB-RELATED CONDITION" EXACT [] synonym: "MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB" EXACT [] synonym: "Maple Syrup Urine Disease, Type 1B" EXACT [] synonym: "MSUD1B" EXACT [] xref: MESH:C535711 xref: MIM:620698 xref: MONDO:0023692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9269 ! maple syrup urine disease created_by: mtutaj creation_date: 2025-11-03T08:36:21Z [Term] id: DOID:0061207 name: maple syrup urine disease type II alt_id: DOID:9005672 def: "A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21. (DO)" [PMID:17922217 "DO"] synonym: "DBT-RELATED DISORDER" EXACT [] synonym: "Intermediate Maple Syrup Urine Disease Type 2" EXACT [] synonym: "MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II" NARROW [] synonym: "Maple Syrup Urine Disease, Type 2" EXACT [] synonym: "MSUD2" EXACT [] xref: MESH:C535712 xref: MIM:620699 xref: MONDO:0023693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9269 ! maple syrup urine disease created_by: mtutaj creation_date: 2025-11-03T08:38:24Z [Term] id: DOID:0061208 name: epidermolytic hyperkeratosis 2B def: "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21. (DO)" [PMID:19474805 "DO"] synonym: "EHK2B" EXACT [] synonym: "epidermolytic hyperkeratosis 2B, autosomal recessive" EXACT [] xref: MIM:620707 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081359 ! epidermolytic hyperkeratosis 2 created_by: mtutaj creation_date: 2025-11-03T08:39:42Z [Term] id: DOID:0061209 name: branchiootic syndrome 1 alt_id: DOID:9002083 def: "A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13. (DO)" [PMID:9359046 "DO"] synonym: "anterior segment anomalies with or without cataract" NARROW [] synonym: "BOS1" EXACT [] synonym: "BO syndrome 1" EXACT [] xref: MIM:602588 xref: MONDO:0011258 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060232 ! branchiootic syndrome created_by: mtutaj creation_date: 2025-11-03T08:43:08Z [Term] id: DOID:0061210 name: branchiootic syndrome 3 alt_id: DOID:9007844 def: "A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23. (DO)" [PMID:17637804 "DO"] synonym: "BOS3" EXACT [] synonym: "BO Syndrome 3" EXACT [] synonym: "SIX1-related condition" BROAD [] xref: MESH:C564248 xref: MIM:608389 xref: MONDO:0012025 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060232 ! branchiootic syndrome created_by: mtutaj creation_date: 2025-11-03T08:45:03Z [Term] id: DOID:0061211 name: Lafora disease 2 alt_id: DOID:9002113 alt_id: DOID:9008667 def: "A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22. (DO)" [PMID:19469843 "DO"] synonym: "EPM2B" EXACT [] synonym: "MELF2" EXACT [] synonym: "myoclonic epilepsy of Lafora 2" EXACT [] synonym: "progressive myoclonic epilepsy 2B" EXACT [] xref: MESH:C564976 xref: MIM:620681 xref: MONDO:0800306 is_a: DOID:3534 ! Lafora disease created_by: mtutaj creation_date: 2025-11-03T08:46:25Z [Term] id: DOID:0061212 name: hypocholesteremia alt_id: DOID:9007751 def: "A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia). (DO)" [https://en.wikipedia.org/wiki/Hypocholesterolemia "DO", PMID:20626336 "DO"] synonym: "hypocholesterolemia" EXACT [] is_a: DOID:9003370 ! Dyslipidemias created_by: mtutaj creation_date: 2025-11-03T08:48:03Z [Term] id: DOID:0061213 name: telomere biology disorder def: "A genetic disease that is characterized by telomeres that are longer or shorter than usual. (DO)" [https://www.chop.edu/conditions-diseases/telomere-biology-disorders "DO", https://www.mayo.edu/research/centers-programs/center-individualized-medicine/patient-care/telomere-biology-disorders "DO"] synonym: "telomeropathies" EXACT [] synonym: "telomeropathy" EXACT [] is_a: DOID:630 ! genetic disease created_by: mtutaj creation_date: 2025-11-03T08:50:11Z [Term] id: DOID:0061214 name: biliary obstruction def: "A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK539698 "DO"] is_a: DOID:4138 ! bile duct disease created_by: mtutaj creation_date: 2025-11-03T08:52:52Z [Term] id: DOID:0061215 name: hepatic fibrosis def: "A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC546435 "DO"] is_a: DOID:409 ! liver disease created_by: mtutaj creation_date: 2025-11-03T08:54:15Z [Term] id: DOID:0061216 name: pheochromocytoma/paraganglioma syndrome 1 alt_id: DOID:9002199 def: "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene. (DO)" [PMID:36520714 "DO"] synonym: "familial paragangliomas, 1" EXACT [] synonym: "Paragangliomas 1" EXACT [] synonym: "Paragangliomas, Familial Nonchromaffin, 1" EXACT [] synonym: "PGL1" EXACT [] synonym: "PPGL1" EXACT [] xref: MIM:168000 xref: MONDO:0008192 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2025-11-03T08:55:43Z [Term] id: DOID:0061217 name: pheochromocytoma/paraganglioma syndrome 2 alt_id: DOID:9005655 def: "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene. (DO)" [PMID:12205103 "DO"] synonym: "familial glomus tumors 2" EXACT [] synonym: "Paragangliomas 2" EXACT [] synonym: "PGL2" EXACT [] synonym: "PPGL2" EXACT [] xref: MESH:C566646 xref: MIM:601650 xref: MONDO:0011121 is_a: DOID:0050773 ! paraganglioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes created_by: mtutaj creation_date: 2025-11-03T09:25:05Z [Term] id: DOID:0061218 name: pheochromocytoma/paraganglioma syndrome 3 alt_id: DOID:9003626 def: "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene. (DO)" [PMID:15328326 "DO"] synonym: "extraadrenal pheochromocytoma and cervical paraganglioma" EXACT [] synonym: "familial extraadrenal pheochromocytoma" EXACT [] synonym: "familial glomus tumors 3" EXACT [] synonym: "hereditary extraadrenal paragangliomas" EXACT [] synonym: "Paragangliomas 3" EXACT [] synonym: "PGL3" EXACT [] synonym: "PPGL3" EXACT [] xref: MESH:C565335 xref: MIM:605373 xref: MONDO:0011544 is_a: DOID:0050773 ! paraganglioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes created_by: mtutaj creation_date: 2025-11-03T09:25:25Z [Term] id: DOID:0061219 name: pheochromocytoma/paraganglioma syndrome 4 alt_id: DOID:9008037 def: "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36. (DO)" [PMID:15328326 "DO"] synonym: "carotid body tumors and multiple extraadrenal pheochromocytomas" EXACT [] synonym: "familial extraadrenal pheochromocytoma" EXACT [] synonym: "Paragangliomas 4" EXACT [] synonym: "PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL" EXACT [] synonym: "PGL4" EXACT [] synonym: "PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA" EXACT [] synonym: "PPGL4" EXACT [] xref: MIM:115310 xref: MONDO:0007273 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2025-11-03T09:25:39Z [Term] id: DOID:0061220 name: pheochromocytoma/paraganglioma syndrome 5 alt_id: DOID:9002091 def: "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15. (DO)" [PMID:15328326 "DO"] synonym: "Paragangliomas 5" EXACT [] synonym: "PGL5" EXACT [] synonym: "PPGL5" EXACT [] xref: MIM:614165 xref: MONDO:0013602 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2025-11-03T09:25:52Z [Term] id: DOID:0061221 name: pheochromocytoma/paraganglioma syndrome 6 alt_id: DOID:9005512 def: "A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13. (DO)" [PMID:29431636 "DO"] synonym: "Paragangliomas 6" EXACT [] synonym: "PGL6" EXACT [] synonym: "PPGL6" EXACT [] synonym: "SLC25A11-RELATED CONDITION" EXACT [] xref: MIM:618464 xref: MONDO:0032767 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2025-11-03T09:26:05Z [Term] id: DOID:0061222 name: pheochromocytoma/paraganglioma syndrome 7 alt_id: DOID:9008213 def: "A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24. (DO)" [PMID:30929736 "DO"] synonym: "DLST-RELATED CONDITION" EXACT [] synonym: "Paragangliomas 7" EXACT [] synonym: "PGL7" EXACT [] synonym: "PPGL7" EXACT [] xref: MIM:618475 xref: MONDO:0032771 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2025-11-03T09:26:19Z [Term] id: DOID:0061223 name: epidermolytic hyperkeratosis 2A def: "An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21. (DO)" [PMID:7512983 "DO"] synonym: "EHK2A" EXACT [] synonym: "epidermolytic hyperkeratosis 2A, autosomal dominant" EXACT [] xref: MIM:620150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081359 ! epidermolytic hyperkeratosis 2 created_by: mtutaj creation_date: 2025-11-03T09:33:33Z [Term] id: DOID:0061224 name: Majeed syndrome alt_id: DOID:9005523 def: "An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11. (DO)" [https://www.nomidalliance.org/majeed.php "DO", PMID:33670882 "DO"] synonym: "chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis" EXACT [] synonym: "Chronic recurrent multifocal osteomyelitis, congenital" EXACT [] synonym: "Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis" EXACT [] synonym: "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome" EXACT [] synonym: "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" EXACT [] synonym: "CRMO1" EXACT [] synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" EXACT [] synonym: "MJDS" EXACT [] xref: GARD:10088 xref: MESH:C537839 xref: MIM:609628 xref: MONDO:0012316 xref: ORDO:77297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis is_a: DOID:1338 ! congenital dyserythropoietic anemia created_by: mtutaj creation_date: 2025-11-25T16:48:21Z [Term] id: DOID:0061225 name: interleukin-1 receptor antagonist deficiency alt_id: DOID:9007151 def: "An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14. (DO)" [https://www.nomidalliance.org/dira.php "DO", PMID:19494218 "DO"] synonym: "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [] synonym: "Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis" EXACT [] synonym: "CRMO2" EXACT [] synonym: "deficiency of interleukin(IL)-1 receptor antagonist" EXACT [] synonym: "Deficiency of Interleukin-1 Receptor Antagonist" EXACT [] synonym: "Deficiency of interleukin-1 receptor antagonist (DIRA)" EXACT [] synonym: "DIRA" EXACT [] synonym: "OMPP" EXACT [] synonym: "sterile multifocal osteomyelitis, with periostitis and pustulosis" EXACT [] xref: GARD:10516 xref: MESH:C557815 xref: MIM:612852 xref: MONDO:0013021 xref: ORDO:210115 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:9957 ! periostitis created_by: mtutaj creation_date: 2025-12-30T12:46:53Z [Term] id: DOID:0061226 name: primary ciliary dyskinesia 55 alt_id: DOID:9006783 def: "A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14. (DO)" [PMID:31636325 "DO", PMID:40272718 "DO"] synonym: "Azoospermia, obstructive, and chronic sinopulmonary infections" EXACT [] synonym: "Azoospermia sinopulmonary infections" EXACT [] synonym: "Azoospermia-sinopulmonary infections syndrome" EXACT [] synonym: "Barry-Perkins-Young syndrome" EXACT [] synonym: "CILD55" EXACT [] synonym: "MALE INFERTILITY DUE TO OBSTRUCTIVE AZOOSPERMIA" NARROW [] synonym: "Sinusitis-infertility syndrome" EXACT [] synonym: "Young Syndrome" EXACT [] xref: GARD:341 xref: MESH:C536718 xref: MIM:279000 xref: MONDO:0010220 xref: ORDO:3471 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14228 ! oligospermia is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2026-02-03T10:35:02Z [Term] id: DOID:0061227 name: autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 alt_id: DOID:9009377 def: "A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13. (DO)" [PMID:39191170 "DO"] synonym: "CARASIL1" EXACT [] xref: MIM:621295 xref: MONDO:0979867 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13945 ! CADASIL is_a: DOID:3526 ! cerebral infarction is_a: DOID:9002704 ! Leukoencephalopathies created_by: mtutaj creation_date: 2026-02-03T10:40:38Z [Term] id: DOID:0061228 name: autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 alt_id: DOID:9001147 def: "A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26. (DO)" [PMID:19387015 "DO"] synonym: "CARASIL2" EXACT [] synonym: "CARASIL syndrome 2" EXACT [] synonym: "Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease" EXACT [] synonym: "Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension" EXACT [] synonym: "HTRA1-RELATED CEREBRAL SMALL VESSEL DISEASE" EXACT [] synonym: "MAEDA Syndrome" EXACT [] synonym: "Nemoto disease" EXACT [] synonym: "progressive subcortical vascular encephalopathy" EXACT [] xref: MESH:C563990 xref: MIM:600142 xref: MONDO:0010829 xref: NCI:C202018 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:13945 ! CADASIL is_a: DOID:3526 ! cerebral infarction is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2026-02-03T10:45:16Z [Term] id: DOID:0061229 name: Camurati-Engelmann disease 1 alt_id: DOID:9009390 def: "An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13. (DO)" [PMID:15894597 "DO"] synonym: "CAEND1" EXACT [] xref: MIM:131300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4997 ! Camurati-Engelmann disease created_by: mtutaj creation_date: 2026-02-03T10:49:02Z [Term] id: DOID:0061230 name: Camurati-Engelmann disease 2 alt_id: DOID:9000023 def: "An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)" [PMID:40204055 "DO"] synonym: "CAEND2" EXACT [] synonym: "Camurati-Engelmann disease, type 2" EXACT [] synonym: "Camurati-Engelmann disease, type II" EXACT [] synonym: "progressive diaphyseal dysplasia with striations of the bones" EXACT [] xref: MESH:C537978 xref: MESH:C564689 xref: MIM:606631 xref: MONDO:0011690 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4997 ! Camurati-Engelmann disease created_by: mtutaj creation_date: 2026-02-03T10:51:09Z [Term] id: DOID:0061231 name: enhanced S-cone syndrome 1 def: "A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23. (DO)" [PMID:10655056 "DO"] synonym: "ESCS1" EXACT [] synonym: "NR2E3-related condition" BROAD [] synonym: "NR2E3-related disorder" BROAD [] synonym: "NR2E3-related disorders" BROAD [] xref: MIM:268100 is_a: DOID:0090059 ! enhanced S-cone syndrome created_by: mtutaj creation_date: 2026-02-03T10:53:13Z [Term] id: DOID:0061232 name: enhanced S-cone syndrome 2 def: "A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11. (DO)" [PMID:29385733 "DO"] synonym: "ESCS2" EXACT [] xref: MIM:621371 is_a: DOID:0090059 ! enhanced S-cone syndrome created_by: mtutaj creation_date: 2026-02-03T11:10:36Z [Term] id: DOID:0061233 name: autosomal recessive brain small vessel disease 2B def: "A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A2 gene on chromosome 13q34. (DO)" [PMID:36603335 "DO"] synonym: "BSVD2B" EXACT [] xref: MIM:621414 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2026-02-03T11:15:44Z [Term] id: DOID:0061234 name: brain small vessel disease 4 alt_id: DOID:9009380 def: "A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutation in the NIT1 gene on chromosome 1q23. (DO)" [PMID:38430071 "DO"] synonym: "BSVD4" EXACT [] xref: MIM:621313 xref: MONDO:0979873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2026-02-03T11:19:14Z [Term] id: DOID:0061235 name: brain small vessel disease 5 with osteoporosis alt_id: DOID:9009387 def: "A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13. (DO)" [PMID:36929019 "DO"] synonym: "brain small vessel disease 5" EXACT [] synonym: "BSVD5" EXACT [] xref: MIM:621331 xref: MONDO:0979880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2026-02-03T11:21:12Z [Term] id: DOID:0061236 name: brain small vessel disease 6 with leukoencephalopathy alt_id: DOID:9009401 def: "A brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that has_material_basis_in heterozygous mutation in the CTSA gene on chromosome 20q13. (DO)" [PMID:31177426 "DO"] synonym: "brain small vessel disease 6" EXACT [] synonym: "BSVD6" EXACT [] synonym: "CARASAL" EXACT [] xref: MIM:621394 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2026-02-03T11:23:36Z [Term] id: DOID:0070000 name: 3-methylglutaconic aciduria type 8 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. (DO)" [PMID:27208207 "DO", PMID:27696117 "DO"] synonym: "3-methylglutaconic aciduria type VIII" EXACT [] synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [] synonym: "HTRA2-RELATED CONDITION" BROAD [] synonym: "HTRA2-RELATED DISORDERS" BROAD [] synonym: "MGCA8" EXACT [] xref: MIM:617248 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0070002 name: 3-methylglutaconic aciduria type 9 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. (DO)" [PMID:27573165 "DO"] synonym: "3-methylglutaconic aciduria type IX" EXACT [] synonym: "3-methylglutaconic aciduria type IX, MGCA9" EXACT [] synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [] synonym: "MGCA9" EXACT [] synonym: "TIMM50-RELATED CONDITION" EXACT [] xref: MIM:617698 xref: MONDO:0044724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0070003 name: blastoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. (DO)" [https://en.wikipedia.org/wiki/Blastoma "DO"] xref: EFO:0005785 xref: MONDO:0005565 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:0070004 name: myeloid neoplasm def: "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. (DO)" [http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf "DO", PMID:19357394 "DO"] synonym: "myeloid malignancy" EXACT [] synonym: "myeloid tumor" EXACT [] synonym: "myeloproliferative disorder" EXACT [] synonym: "myeloproliferative disorders" EXACT [] xref: EFO:0002427 xref: MESH:D009196 xref: MONDO:0005170 xref: NCI:C9290 is_a: DOID:4960 ! bone marrow cancer [Term] id: DOID:0070005 name: Seckel syndrome 9 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. (DO)" [PMID:26595769 "DO"] synonym: "SCKL9" EXACT [] synonym: "TRAIP-related condition" BROAD [] xref: MIM:616777 xref: MONDO:0014767 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070006 name: Seckel syndrome 6 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. (DO)" [PMID:21983783 "DO"] synonym: "CEP63-RELATED CONDITION" EXACT [] synonym: "SCKL6" EXACT [] xref: MIM:614728 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070007 name: Seckel syndrome 1 def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. (DO)" [PMID:12640452 "DO"] synonym: "ATR-related condition" BROAD [] synonym: "microcephalic primordial dwarfism 1" EXACT [] synonym: "microcephalic primordial dwarfism I" EXACT [] synonym: "nanocephalic dwarfism" EXACT [] synonym: "SCKL1" EXACT [] synonym: "Seckel-type dwarfism" EXACT [] xref: MESH:C537533 xref: MIM:210600 xref: MONDO:0008869 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0070008 name: Seckel syndrome 10 def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. (DO)" [PMID:25105364 "DO"] synonym: "NSMCE2-RELATED CONDITION" EXACT [] synonym: "SCKL10" EXACT [] xref: MIM:617253 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070009 name: Seckel syndrome 8 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. (DO)" [PMID:24389050 "DO"] synonym: "DNA2-RELATED CONDITION" BROAD [] synonym: "SCKL8" EXACT [] synonym: "Seckel syndrome type 8" EXACT [] xref: MIM:615807 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070010 name: Seckel syndrome 4 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)" [PMID:20522431 "DO"] synonym: "CENPJ-RELATED CONDITION" BROAD [] synonym: "CENPJ-RELATED DISORDER" BROAD [] synonym: "SCKL4" EXACT [] xref: MIM:613676 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0070011 name: Seckel syndrome 7 def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. (DO)" [PMID:22933543 "DO"] synonym: "NIN-RELATED CONDITION" EXACT [] synonym: "SCKL7" EXACT [] xref: MIM:614851 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070012 name: Seckel syndrome 5 def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)" [PMID:21131973 "DO"] synonym: "CEP152-related condition" BROAD [] synonym: "CEP152-related disorder" BROAD [] synonym: "CEP152-related disorders" BROAD [] synonym: "SCKL5" EXACT [] xref: MIM:613823 xref: MONDO:0013443 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070013 name: Seckel syndrome 2 def: "A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)" [PMID:11781686 "DO", PMID:21998596 "DO"] synonym: "Bird-headed dwarfism 2" EXACT [] synonym: "Microcephalic primordial dwarfism 2" EXACT [] synonym: "RBBP8-related condition" BROAD [1] synonym: "RBBP8-related disorders" BROAD [] synonym: "SCKL2" EXACT [] synonym: "Seckel-type dwarfism 2" EXACT [] xref: MESH:C537534 xref: MIM:606744 xref: MONDO:0011715 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0070014 name: autosomal dominant dyskeratosis congenita 1 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. (DO)" [PMID:11574891 "DO"] synonym: "DKCA1" EXACT [] synonym: "Dyskeratosis Congenita, Scoggins Type" EXACT [] synonym: "TERC-RELATED CONDITION" BROAD [] xref: MIM:127550 xref: MONDO:0007485 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070015 name: autosomal recessive dyskeratosis congenita 1 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. (DO)" [PMID:17507419 "DO"] synonym: "DKCB1" EXACT [] xref: MIM:224230 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070016 name: autosomal dominant dyskeratosis congenita 2 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. (DO)" [PMID:16247010 "DO"] synonym: "DKCA2" EXACT [] xref: MIM:613989 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070017 name: autosomal recessive dyskeratosis congenita 2 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. (DO)" [PMID:18523010 "DO"] synonym: "DKCB2" EXACT [] synonym: "NHP2-RELATED CONDITION" EXACT [] xref: MIM:613987 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070018 name: autosomal dominant dyskeratosis congenita 3 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. (DO)" [PMID:18252230 "DO"] synonym: "DKCA3" EXACT [] synonym: "TINF2-RELATED CONDITION" BROAD [] xref: MIM:613990 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070019 name: autosomal recessive dyskeratosis congenita 3 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. (DO)" [PMID:21205863 "DO"] synonym: "DKCB3" EXACT [] synonym: "WRAP53-RELATED CONDITION" EXACT [] xref: MIM:613988 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070020 name: autosomal dominant dyskeratosis congenita 4 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. (DO)" [PMID:23329068 "DO"] synonym: "DKCA4" EXACT [] is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070021 name: autosomal recessive dyskeratosis congenita 4 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. (DO)" [PMID:17785587 "DO"] synonym: "DKCB4" EXACT [] is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070022 name: autosomal recessive dyskeratosis congenita 5 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. (DO)" [PMID:19461895 "DO"] synonym: "DKCB5" EXACT [] xref: MIM:615190 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070023 name: autosomal dominant dyskeratosis congenita 6 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. (DO)" [PMID:25205116 "DO"] synonym: "ACD-related condition" BROAD [] synonym: "ACD-RELATED SHORT TELOMERE SYNDROME" EXACT [] synonym: "DKCA6" EXACT [] xref: MIM:616553 xref: MONDO:0014690 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070024 name: autosomal recessive dyskeratosis congenita 6 alt_id: DOID:9007288 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. (DO)" [PMID:25893599 "DO"] synonym: "DKCB6" EXACT [] xref: MIM:616353 xref: MONDO:0014600 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070025 name: X-linked dyskeratosis congenita def: "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. (DO)" [PMID:9590285 "DO"] synonym: "DKC1-RELATED CONDITION" BROAD [] synonym: "DKCX" EXACT [] synonym: "Zinsser-Cole-Engman syndrome" EXACT [] xref: MIM:305000 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070026 name: Revesz syndrome alt_id: MIM:268130 def: "A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. (DO)" [PMID:18252230 "DO"] synonym: "DKCA5" EXACT [] synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT [] synonym: "exudative retinopathy with bone marrow failure" EXACT [] synonym: "Revesz Debuse syndrome" EXACT [] synonym: "TINF2-RELATED CONDITION" BROAD [] xref: GARD:4695 xref: MESH:C538371 is_a: DOID:225 ! syndrome is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:0070027 name: CST3-related cerebral amyloid angiopathy def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. (DO)" [PMID:2900981 "DO"] synonym: "amyloidosis VI" EXACT [] synonym: "Autosomal Dominant Cerebrovascular Amyloidosis" EXACT [] synonym: "Cerebral Amyloid Angiopathy, Familial" EXACT [] synonym: "Cerebral Amyloid Angiopathy, Genetic" EXACT [] synonym: "cerebroarterial amyloidosis, Icelandic type" EXACT [] synonym: "Dutch Type Hereditary Cerebral Amyloid Angiopathy" EXACT [] synonym: "HCHWA" EXACT [] synonym: "Hereditary Cerebral Amyloid Angiopathy" EXACT [] synonym: "Hereditary Cerebral Hemorrhage With Amyloidosis" EXACT [] synonym: "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant" EXACT [] synonym: "Icelandic type amyloidosis" EXACT [] synonym: "Icelandic type hereditary cerebral amyloid angiopathy" EXACT [] xref: MESH:D028243 xref: MIM:105150 xref: MONDO:0007098 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070028 name: APP-related cerebral amyloid angiopathy def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. (DO)" [PMID:2111584 "DO"] synonym: "APP-related condition" BROAD [] synonym: "Cerebral Amyloid Angiopathy, App-Related" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Arctic variant" NARROW [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant" NARROW [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant" NARROW [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant" NARROW [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Italian Variant" NARROW [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Piedmont Variant" NARROW [] synonym: "Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type" EXACT [] synonym: "cerebroarterial amyloidosis, APP-related" EXACT [] synonym: "HCHWAD" EXACT [] synonym: "hereditary amyloidosis with cerebral hemorrhage, Dutch variant" EXACT [] xref: MESH:C537944 xref: MIM:605714 xref: MONDO:0011583 xref: NCI:C157147 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002676 ! Cerebral Hemorrhage is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070029 name: ITM2B-related cerebral amyloid angiopathy 1 alt_id: MIM:176500 def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. (DO)" [PMID:10391242 "DO", PMID:7086452 "DO"] synonym: "cerebral amyloid angiopathy, British type" EXACT [] synonym: "familial British dementia" EXACT [] synonym: "FBD" EXACT [] synonym: "presenile dementia with spastic ataxia" EXACT [] xref: GARD:8344 xref: MESH:C538208 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070027 ! CST3-related cerebral amyloid angiopathy is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070030 name: ITM2B-related cerebral amyloid angiopathy 2 alt_id: MIM:117300 alt_id: RDO:0004153 def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (DO)" [PMID:10781099 "DO"] synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" EXACT [] synonym: "familial Danish dementia" EXACT [] synonym: "FDD" EXACT [] synonym: "heredopathia ophthalmootoencephalica" EXACT [] synonym: "HOOE" EXACT [] xref: MESH:C538209 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1307 ! dementia is_a: DOID:83 ! cataract is_a: DOID:9008681 ! Deafness is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070031 name: autosomal dominant intellectual developmental disorder 1 alt_id: MIM:156200 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)" [PMID:21981781 "DO"] synonym: "autosomal dominant mental retardation 1" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 1" EXACT [] synonym: "CHROMOSOME 2q23.1 DELETION SYNDROME" NARROW [] synonym: "MBD5 associated neurodevelopmental disorder" EXACT [] synonym: "MBD5-RELATED CONDITION" EXACT [] synonym: "MRD1" EXACT [] xref: EFO:0009072 xref: MESH:C566947 xref: NCI:C141424 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070032 name: autosomal dominant intellectual developmental disorder 2 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. (DO)" [PMID:18060736 "DO"] synonym: "autosomal dominant mental retardation 2" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 2" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 2" EXACT [] synonym: "MRD2" EXACT [] xref: MIM:614113 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070033 name: autosomal dominant intellectual developmental disorder 3 alt_id: MIM:612580 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. (DO)" [PMID:19012874 "DO"] synonym: "autosomal dominant mental retardation 3" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 3" EXACT [] synonym: "CDH15-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 3" EXACT [] synonym: "MRD3" EXACT [] xref: MESH:C567241 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070034 name: autosomal dominant intellectual developmental disorder 4 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. (DO)" [PMID:19012874 "DO"] synonym: "autosomal dominant mental retardation 4" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 4" EXACT [] synonym: "intellectual disability, autosomal dominant 4" EXACT [] synonym: "MRD4" EXACT [] xref: MESH:C567240 xref: MIM:612581 xref: MONDO:0012947 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070035 name: autosomal dominant intellectual developmental disorder 5 alt_id: MIM:612621 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. (DO)" [PMID:19196676 "DO"] synonym: "autosomal dominant mental retardation 5" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 5" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 5" EXACT [] synonym: "MRD5" EXACT [] synonym: "SYNGAP1-RELATED CONDITION" EXACT [] synonym: "SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" EXACT [] synonym: "SYNGAP1-RELATED DISORDER" EXACT [] synonym: "SYNGAP1-RELATED ENCEPHALOPATHY" EXACT [] xref: MESH:C567234 xref: NCI:C178414 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070036 name: autosomal dominant intellectual developmental disorder 6 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)" [PMID:20890276 "DO"] synonym: "autosomal dominant intellectual developmental disorder 6, with or without seizures" EXACT [] synonym: "autosomal dominant mental retardation 6" EXACT [] synonym: "autosomal dominant mental retardation 6, with or without seizures" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 6" EXACT [] synonym: "GRIN2B-RELATED CONDITION" BROAD [] synonym: "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER" BROAD [] synonym: "GRIN2B-RELATED DISORDER" BROAD [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6" EXACT [] synonym: "MRD6" EXACT [] xref: MIM:613970 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:11832 ! visual epilepsy [Term] id: DOID:0070037 name: autosomal dominant intellectual developmental disorder 7 def: "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK333438/ "DO", PMID:23160955 "DO"] synonym: "autosomal dominant mental retardation 7" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 7" EXACT [] synonym: "DYRK1A-RELATED CONDITION" EXACT [] synonym: "DYRK1A-RELATED DISORDER" EXACT [] synonym: "DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "DYRK1A syndrome" EXACT [] synonym: "INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION" NARROW [] synonym: "MRD7" EXACT [] xref: MIM:614104 xref: NCI:C179708 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070038 name: autosomal dominant intellectual developmental disorder 8 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (DO)" [PMID:21376300 "DO"] synonym: "autosomal dominant mental retardation 8" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 8" EXACT [] synonym: "GRIN1-related disorder" EXACT [] synonym: "MRD8" EXACT [] synonym: "NDHMSD" EXACT [] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" EXACT [] xref: EFO:0009300 xref: MIM:614254 xref: NCI:C206518 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070039 name: NESCAV syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. (DO)" [PMID:21376300 "DO"] synonym: "autosomal dominant intellectual disability 9" EXACT [] synonym: "autosomal dominant mental retardation 9" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 9" EXACT [] synonym: "MRD9" EXACT [] synonym: "NESCAVS" EXACT [] synonym: "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" EXACT [] xref: MIM:614255 xref: NCI:C133742 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070040 name: autosomal dominant intellectual developmental disorder 10 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. (DO)" [PMID:21376300 "DO"] synonym: "autosomal dominant mental retardation 10" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 10" EXACT [] synonym: "CACNG2-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 10" EXACT [] synonym: "MRD10" EXACT [] xref: MIM:614256 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070041 name: autosomal dominant intellectual developmental disorder 11 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. (DO)" [PMID:21376300 "DO"] synonym: "autosomal dominant mental retardation 11" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 11" EXACT [] synonym: "chromosome 20q11-q12 deletion syndrome" EXACT [] synonym: "EPB41L1-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 11" EXACT [] synonym: "MRD11" EXACT [] xref: MIM:614257 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070042 name: Coffin-Siris syndrome 1 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. (DO)" [PMID:22405089 "DO"] synonym: "ARID1B-RELATED BAFOPATHY" EXACT [] synonym: "ARID1B-related condition" EXACT [] synonym: "ARID1B-related disorder" EXACT [] synonym: "autosomal dominant mental retardation 12" EXACT [] synonym: "CSS1" EXACT [] synonym: "HHID" EXACT [] synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT [] synonym: "MRD12" EXACT [] xref: MIM:135900 xref: MONDO:0007617 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070043 name: autosomal dominant intellectual developmental disorder 13 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. (DO)" [PMID:21076407 "DO"] synonym: "autosomal dominant mental retardation 13" EXACT [] synonym: "autosomal dominant mental retardation 13, with neuronal migration defects" EXACT [] synonym: "autosomal dominant mental retardation with neuronal migration defects" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 13" EXACT [] synonym: "intellectual disability, autosomal dominant 13" EXACT [] synonym: "MRD13" EXACT [] xref: MIM:614563 xref: MONDO:0013805 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070044 name: Coffin-Siris syndrome 2 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. (DO)" [PMID:22426308 "DO"] synonym: "ARID1A-RELATED BAFOPATHY" EXACT [] synonym: "ARID1A-RELATED CONDITION" EXACT [] synonym: "autosomal dominant mental retardation 14" EXACT [] synonym: "CSS2" EXACT [] synonym: "MRD14" EXACT [] xref: MIM:614607 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070045 name: Coffin-Siris syndrome 3 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. (DO)" [PMID:22426308 "DO"] synonym: "autosomal dominant mental retardation 15" EXACT [] synonym: "CSS3" EXACT [] synonym: "MRD15" EXACT [] xref: MIM:614608 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070046 name: Coffin-Siris syndrome 4 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. (DO)" [PMID:22426308 "DO"] synonym: "autosomal dominant mental retardation 16" EXACT [] synonym: "CSS4" EXACT [] synonym: "MRD16" EXACT [] synonym: "SMARCA4-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA4-RELATED CONDITION" BROAD [] xref: MIM:614609 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070047 name: Schuurs-Hoeijmakers syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. (DO)" [PMID:26842493 "DO"] synonym: "autosomal dominant intellectual developmental disorder 17" EXACT [] synonym: "autosomal dominant mental retardation 17" EXACT [] synonym: "MRD17" EXACT [] synonym: "PACS1-RELATED CONDITION" EXACT [] synonym: "SHMS" EXACT [] xref: MIM:615009 xref: NCI:C150555 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0070048 name: GAND syndrome def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (DO)" [PMID:23033978 "DO", PMID:31949314 "DO"] synonym: "autosomal dominant intellectual developmental disorder 18" EXACT [] synonym: "autosomal dominant mental retardation 18" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 18" EXACT [] synonym: "GAND" EXACT [] synonym: "GATAD2B-related condition" BROAD [] synonym: "GATAD2B-related disorder" BROAD [] synonym: "MRD18" EXACT [] xref: MIM:615074 xref: MONDO:0014034 xref: NCI:C202606 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070049 name: autosomal dominant intellectual developmental disorder 19 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. (DO)" [PMID:23033978 "DO"] synonym: "autosomal dominant mental retardation 19" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 19" EXACT [] synonym: "CTNNB1-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT [] synonym: "MRD19" EXACT [] synonym: "NEDSDV" EXACT [] synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [] xref: MIM:615075 xref: MONDO:0014035 xref: NCI:C176897 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070050 name: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. (DO)" [PMID:20513142 "DO"] synonym: "autosomal dominant mental retardation 20" EXACT [] synonym: "CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL" NARROW [] synonym: "INTELLECTUAL DISABILITY, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS" EXACT [] synonym: "MEF2C-RELATED CONDITION" EXACT [] synonym: "MEF2C-RELATED DISORDER" EXACT [] synonym: "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" EXACT [] synonym: "MRD20" EXACT [] xref: MIM:613443 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1826 ! epilepsy is_a: DOID:2303 ! stereotypic movement disorder is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder [Term] id: DOID:0070051 name: autosomal dominant intellectual developmental disorder 21 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. (DO)" [PMID:23746550 "DO"] synonym: "autosomal dominant mental retardation 21" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 21" EXACT [] synonym: "CTCF-RELATED CONDITION" EXACT [] synonym: "CTCF-RELATED DISORDER" EXACT [] synonym: "INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME" EXACT [] synonym: "MRD21" EXACT [] xref: MIM:615502 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070052 name: autosomal dominant intellectual developmental disorder 22 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. (DO)" [PMID:24193349 "DO"] synonym: "autosomal dominant mental retardation 22" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 22" EXACT [] synonym: "intellectual disability, autosomal dominant 22" EXACT [] synonym: "MRD22" EXACT [] synonym: "ZBTB18-related condition" BROAD [] synonym: "ZBTB18-related disorder" BROAD [] xref: MESH:C567346 xref: MIM:612337 xref: MONDO:0012869 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:0070053 name: autosomal dominant intellectual developmental disorder 23 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. (DO)" [PMID:24680889 "DO"] synonym: "autosomal dominant mental retardation 23" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 23" EXACT [] synonym: "CORNELIA DE LANGE-LIKE SYNDROME" EXACT [] synonym: "MRD23" EXACT [] synonym: "SETD5-related condition" BROAD [] synonym: "SETD5-related disorder" BROAD [] xref: MIM:615761 xref: MONDO:0014336 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070054 name: Vulto-van Silfout-de Vries syndrome def: "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. (DO)" [PMID:21076407 "DO", PMID:30923367 "DO"] synonym: "autosomal dominant mental retardation 24" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 24" EXACT [] synonym: "DEAF1-RELATED CONDITION" BROAD [] synonym: "DEAF1-RELATED DISORDER" BROAD [] synonym: "IDDISBAS" EXACT [] synonym: "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 24" EXACT [] synonym: "MRD24" EXACT [] synonym: "VSVS" EXACT [] xref: MIM:615828 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070055 name: Xia-Gibbs syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. (DO)" [PMID:24791903 "DO"] synonym: "AHDC1-RELATED CONDITION" EXACT [] synonym: "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" EXACT [] synonym: "autosomal dominant mental retardation 25" EXACT [] synonym: "MRD25" EXACT [] synonym: "XIGIS" EXACT [] xref: EFO:0009015 xref: GARD:13409 xref: MIM:615829 xref: NCI:C192092 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0070056 name: autosomal dominant intellectual developmental disorder 26 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. (DO)" [PMID:23332918 "DO"] synonym: "AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY" NARROW [] synonym: "autosomal dominant mental retardation 26" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT [] synonym: "AUTS2-related condition" BROAD [] synonym: "MRD26" EXACT [] xref: MIM:615834 xref: MONDO:0014361 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070057 name: Coffin-Siris syndrome 9 def: "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. (DO)" [PMID:24886874 "DO"] synonym: "autosomal dominant mental retardation 27" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 27" EXACT [] synonym: "CSS9" EXACT [] synonym: "IDDMOH" EXACT [] synonym: "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 27" EXACT [] synonym: "MRD27" EXACT [] synonym: "SOX11-RELATED CONDITION" EXACT [] xref: MIM:615866 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070058 name: Helsmoortel-Van Der Aa syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. (DO)" [PMID:24531329 "DO"] synonym: "ADNP-RELATED CONDITION" EXACT [] synonym: "ADNP-related syndromic intellectual disability-autism spectrum disorder" EXACT [] synonym: "ADNP syndrome" EXACT [] synonym: "autosomal dominant mental retardation 28" EXACT [] synonym: "HVDAS" EXACT [] synonym: "MRD28" EXACT [] xref: GARD:12931 xref: MIM:615873 xref: NCI:C160662 xref: ORDO:404448 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070059 name: autosomal dominant intellectual developmental disorder 29 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. (DO)" [PMID:25217958 "DO"] synonym: "autosomal dominant mental retardation 29" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 29" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29" EXACT [] synonym: "MRD29" EXACT [] synonym: "SETBP1-RELATED CONDITION" BROAD [] synonym: "SETBP1-RELATED DISORDER" BROAD [] xref: MIM:616078 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070060 name: autosomal dominant intellectual developmental disorder 30 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. (DO)" [PMID:25217958 "DO"] synonym: "autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities" EXACT [] synonym: "autosomal dominant intellectual disability 30" EXACT [] synonym: "autosomal dominant mental retardation 30" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 30" EXACT [] synonym: "MRD30" EXACT [] synonym: "ZMYND11-related condition" EXACT [] xref: GARD:13136 xref: MIM:616083 xref: MONDO:0014486 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070061 name: autosomal dominant intellectual developmental disorder 31 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)" [PMID:25439098 "DO"] synonym: "autosomal dominant mental retardation 31" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 31" EXACT [] synonym: "GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME" EXACT [] synonym: "MRD31" EXACT [] synonym: "NEDRIHF" EXACT [] synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [] synonym: "PURA-RELATED DISORDER" EXACT [] synonym: "PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION" EXACT [] synonym: "PURA SYNDROME" EXACT [] xref: MIM:616158 xref: MONDO:0014512 xref: ORDO:438216 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070062 name: Arboleda-Tham syndrome alt_id: DOID:9008160 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. (DO)" [PMID:25728775 "DO"] synonym: "ARTHS" EXACT [] synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT [] synonym: "autosomal dominant mental retardation 32" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 32" EXACT [] synonym: "KAT6A-RELATED CONDITION" EXACT [] synonym: "KAT6A-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES" EXACT [] synonym: "KAT6A syndrome" EXACT [] synonym: "MRD32" EXACT [] xref: MIM:616268 xref: ORDO:457193 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0070063 name: autosomal dominant intellectual developmental disorder 33 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. (DO)" [PMID:23832105 "DO"] synonym: "autosomal dominant intellectual disability 33" EXACT [] synonym: "autosomal dominant mental retardation 33" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 33" EXACT [] synonym: "DPP6-RELATED CONDITION" BROAD [] synonym: "MRD33" EXACT [] xref: MIM:616311 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070064 name: autosomal dominant intellectual developmental disorder 34 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. (DO)" [PMID:25533962 "DO"] synonym: "autosomal dominant mental retardation 34" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 34" EXACT [] synonym: "CERT1-related condition" BROAD [] synonym: "CERTRA syndrome" EXACT [] synonym: "intellectual disability, autosomal dominant 34" EXACT [] synonym: "MRD34" EXACT [] synonym: "NEDHSF" EXACT [] synonym: "neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies" EXACT [] xref: MIM:616351 xref: MONDO:0014599 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070065 name: autosomal dominant intellectual developmental disorder 35 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. (DO)" [PMID:25533962 "DO"] synonym: "autosomal dominant mental retardation 35" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 35" EXACT [] synonym: "HJS1" EXACT [] synonym: "Houge-Janssens syndrome 1" EXACT [] synonym: "INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME" EXACT [] synonym: "MRD35" EXACT [] synonym: "PPP2R5D-related condition" BROAD [] synonym: "PPP2R5D-related disorder" BROAD [] xref: MIM:616355 xref: MONDO:0014602 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9009276 ! Houge-Janssens Syndrome [Term] id: DOID:0070066 name: autosomal dominant intellectual developmental disorder 36 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. (DO)" [PMID:25533962 "DO"] synonym: "autosomal dominant mental retardation 36" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 36" EXACT [] synonym: "HJS2" EXACT [] synonym: "Houge-Janssens syndrome 2" EXACT [] synonym: "MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "MRD36" EXACT [] synonym: "PPP2R1A-related condition" BROAD [] synonym: "PPP2R1A-related disorder" BROAD [] synonym: "PPP2R1A-related neurodevelopmental disorder" BROAD [] xref: MIM:616362 xref: MONDO:0014605 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9009276 ! Houge-Janssens Syndrome [Term] id: DOID:0070067 name: White-Sutton syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. (DO)" [PMID:25533962 "DO"] synonym: "autosomal dominant mental retardation 37" EXACT [] synonym: "INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME" EXACT [] synonym: "MRD37" EXACT [] synonym: "POGZ-RELATED CONDITION" EXACT [] synonym: "WHSUS" EXACT [] xref: EFO:0009079 xref: MIM:616364 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0070068 name: autosomal dominant intellectual developmental disorder 38 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. (DO)" [PMID:24697219 "DO"] synonym: "autosomal dominant mental retardation 38" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 38" EXACT [] synonym: "EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy" BROAD [] synonym: "EEF1A2-related disorder" BROAD [] synonym: "MRD38" EXACT [] synonym: "PRELDS" EXACT [] synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [] xref: MIM:616393 xref: MONDO:0014617 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070069 name: autosomal dominant intellectual developmental disorder 39 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. (DO)" [PMID:23033978 "DO"] synonym: "autosomal dominant mental retardation 39" EXACT [] synonym: "autosomal dominant mental retardation 39, and obesity" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 39" EXACT [] synonym: "CHROMOSOME 2p25.3 DELETION SYNDROME" NARROW [] synonym: "CHROMOSOME 2p25.3 DUPLICATION SYNDROME" NARROW [] synonym: "MRD39" EXACT [] synonym: "MYT1L-RELATED CONDITION" EXACT [] xref: MIM:616521 xref: NCI:C156309 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070070 name: autosomal dominant intellectual developmental disorder 40 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. (DO)" [PMID:25533962 "DO"] synonym: "autosomal dominant mental retardation 40" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 40" EXACT [] synonym: "CHAMP1-related condition" BROAD [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 40" EXACT [] synonym: "MRD40" EXACT [] synonym: "NEDHILD" EXACT [] synonym: "neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features" EXACT [] xref: MIM:616579 xref: MONDO:0014699 xref: NCI:C163754 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070071 name: autosomal dominant intellectual developmental disorder 41 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. (DO)" [PMID:25102098 "DO"] synonym: "autosomal dominant mental retardation 41" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 41" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 41" EXACT [] synonym: "MRD41" EXACT [] synonym: "TBL1XR1-RELATED CONDITION" BROAD [] synonym: "TBL1XR1-RELATED DISORDER" BROAD [] xref: MIM:616944 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070072 name: autosomal dominant intellectual developmental disorder 42 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. (DO)" [PMID:27108799 "DO"] synonym: "autosomal dominant mental retardation 42" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 42" EXACT [] synonym: "GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "MRD42" EXACT [] xref: MIM:616973 xref: NCI:C215154 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070073 name: autosomal dominant intellectual developmental disorder 43 def: "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. (DO)" [PMID:27003583 "DO"] synonym: "autosomal dominant mental retardation 43" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 43" EXACT [] synonym: "HIVEP2-related condition" BROAD [] synonym: "HIVEP2-related disorder" BROAD [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 43" EXACT [] synonym: "MRD43" EXACT [] xref: MIM:616977 xref: MONDO:0014858 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070074 name: autosomal dominant intellectual developmental disorder 44 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. (DO)" [PMID:26721934 "DO"] synonym: "autosomal dominant intellectual developmental disorder 44 with microcephaly" EXACT [] synonym: "autosomal dominant mental retardation 44" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 44" EXACT [] synonym: "Mercer-Ba syndrome" EXACT [] synonym: "MRD44" EXACT [] synonym: "TRIO-RELATED CONDITION" BROAD [] synonym: "TRIO-RELATED DISORDER" BROAD [] xref: MIM:617061 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070077 name: schizophrenia 1 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. (DO)" [PMID:14699422 "DO"] synonym: "schizophrenia susceptibility locus, chromosome 5-related" EXACT [] synonym: "SCZD1" EXACT [] xref: MIM:181510 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070078 name: schizophrenia 2 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. (DO)" [PMID:7490076 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED" EXACT [] synonym: "SCZD2" EXACT [] xref: MIM:603342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070079 name: schizophrenia 3 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. (DO)" [PMID:26814963 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED" EXACT [] synonym: "SCZD3" EXACT [] xref: MIM:600511 xref: MONDO:0010897 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070080 name: schizophrenia 4 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. (DO)" [PMID:12217952 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED" EXACT [] synonym: "SCZD4" EXACT [] xref: MIM:600850 xref: MONDO:0010943 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070081 name: schizophrenia 5 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. (DO)" [PMID:15329799 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED" EXACT [] synonym: "SCZD5" EXACT [] xref: MIM:603175 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070082 name: schizophrenia 6 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. (DO)" [PMID:9731535 "DO"] synonym: "NRG1-RELATED CONDITION" EXACT [] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED" EXACT [] synonym: "SCZD6" EXACT [] xref: MIM:603013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070083 name: schizophrenia 7 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. (DO)" [PMID:9731535 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED" EXACT [] synonym: "SCZD7" EXACT [] xref: MIM:603176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070084 name: schizophrenia 8 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. (DO)" [PMID:9246509 "DO"] synonym: "SCZD8" EXACT [] xref: MIM:603206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070085 name: schizophrenia 9 def: "A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. (DO)" [PMID:15197400 "DO"] synonym: "DISC1-RELATED CONDITION" RELATED [] synonym: "schizophrenia 9 with or without an affective disorder" EXACT [] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED" EXACT [] synonym: "SCZD9" EXACT [] xref: MIM:604906 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070086 name: schizophrenia 10 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. (DO)" [PMID:11001582 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED" EXACT [] synonym: "SCZD10" EXACT [] xref: MIM:605419 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia is_a: DOID:9004807 ! Catatonic Schizophrenia [Term] id: DOID:0070087 name: schizophrenia 11 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. (DO)" [PMID:12929083 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED" RELATED [] synonym: "SCZD11" EXACT [] xref: MIM:608078 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070088 name: schizophrenia 12 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. (DO)" [PMID:14750073 "DO"] synonym: "SCZD12" EXACT [] xref: MIM:608543 xref: MONDO:0012054 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070089 name: schizophrenia 13 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. (DO)" [PMID:9012828 "DO"] synonym: "schizophrenia susceptibility locus, chromosome 15q13-q14-related" RELATED [] synonym: "SCZD13" EXACT [] xref: MIM:613025 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070090 name: schizophrenia 14 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. (DO)" [PMID:18677311 "DO"] synonym: "schizophrenia susceptibility locus, chromosome 2q32-related" EXACT [] synonym: "SCZD14" EXACT [] xref: MIM:612361 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070091 name: schizophrenia 15 def: "A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. (DO)" [PMID:20385823 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED" RELATED [] synonym: "SCZD15" EXACT [] synonym: "SHANK3-related disorder" BROAD [] xref: MIM:613950 xref: MONDO:0013498 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070092 name: schizophrenia 16 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. (DO)" [PMID:21346763 "DO"] synonym: "SCZD16" EXACT [] xref: MIM:613959 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070093 name: schizophrenia 18 def: "A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. (DO)" [PMID:23341099 "DO"] synonym: "chromosome 7q36.3 duplication syndrome, 362-Kb" RELATED [] synonym: "schizophrenia susceptibility 18" EXACT [] synonym: "SCZD18" EXACT [] xref: MIM:615232 xref: MONDO:0014092 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070094 name: oculocutaneous albinism type IA alt_id: MIM:203100 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. (DO)" [PMID:8477259 "DO"] synonym: "albinism 1" EXACT [] synonym: "albinism I" EXACT [] synonym: "ATN" EXACT [] synonym: "OCA1" EXACT [] synonym: "OCA1A" EXACT [] synonym: "Oculocutaneous Albinism Type 1" EXACT [] synonym: "oculocutaneous albinism type 1A" EXACT [] synonym: "oculocutaneous albinism, type I" EXACT [] synonym: "oculocutaneous albinism, tyrosinase negative" EXACT [] xref: MESH:C537728 xref: NCI:C168731 is_a: DOID:9005389 ! Oculocutaneous Albinism Type I, Temperature-Sensitive [Term] id: DOID:0070095 name: oculocutaneous albinism type IB alt_id: MIM:606952 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. (DO)" [PMID:18925668 "DO"] synonym: "albinism, yellow mutant type" EXACT [] synonym: "OCA1B" EXACT [] synonym: "OCA1-TS" NARROW [] synonym: "oculocutaneous albinism type 1B" EXACT [] synonym: "oculocutaneous albinism type I, temperature-sensitive" NARROW [] synonym: "yellow albinism" EXACT [] xref: MESH:C537729 is_a: DOID:0080578 ! digenic disease is_a: DOID:9005389 ! Oculocutaneous Albinism Type I, Temperature-Sensitive [Term] id: DOID:0070096 name: oculocutaneous albinism type II def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)" [PMID:18680187 "DO"] synonym: "albinism 2" EXACT [] synonym: "albinism II" EXACT [] synonym: "ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF" RELATED [] synonym: "Albinoidism" EXACT [] synonym: "BOCA" RELATED [] synonym: "brown oculocutaneous albinism" RELATED [] synonym: "OCA2" EXACT [] synonym: "OCA2-RELATED CONDITION" EXACT [] synonym: "oculocutaneous albinism type 2" EXACT [] synonym: "oculocutaneous albinism tyrosinase positive" EXACT [] xref: GARD:4038 xref: MESH:C537730 xref: MIM:203200 xref: MONDO:0008746 xref: OMIA:002130 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070097 name: oculocutaneous albinism type III def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. (DO)" [PMID:9345097 "DO"] synonym: "albinism 3" EXACT [] synonym: "albinism III" EXACT [] synonym: "OCA3" EXACT [] synonym: "oculocutaneous albinism type 3" EXACT [] synonym: "ROCA" EXACT [] synonym: "rufous OCA" EXACT [] synonym: "rufous oculocutaneous albinism" EXACT [] synonym: "TYRP1-related condition" BROAD [] synonym: "xanthism" EXACT [] xref: GARD:4039 xref: MESH:C537189 xref: MIM:203290 xref: MONDO:0008747 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070098 name: oculocutaneous albinism type IV alt_id: MIM:606574 alt_id: OMIA:001821 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. (DO)" [PMID:14722913 "DO"] synonym: "OCA4" EXACT [] synonym: "oculocutaneous albinism type 4" EXACT [] synonym: "SLC45A2-RELATED CONDITION" EXACT [] xref: MESH:C564696 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070099 name: oculocutaneous albinism type V def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. (DO)" [PMID:23050561 "DO"] synonym: "OCA5" EXACT [] synonym: "oculocutaneous albinism type 5" EXACT [] xref: MIM:615312 xref: MONDO:0014127 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070100 name: oculocutaneous albinism type VII def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. (DO)" [PMID:23395477 "DO"] synonym: "LRMDA-related condition" BROAD [] synonym: "OCA7" EXACT [] synonym: "oculocutaneous albinism type 7" EXACT [] xref: MIM:615179 xref: MONDO:0014070 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070111 name: Niemann-Pick disease type A def: "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)" [PMID:13696518 "DO", PMID:19405096 "DO"] synonym: "acid sphingomyelinase deficiency, neurovisceral type" EXACT [] synonym: "classical Niemann Pick disease" EXACT [] synonym: "neuronal cholesterol lipidoses" EXACT [] synonym: "neuronal cholesterol lipidosis" EXACT [] synonym: "Niemann Pick's disease type A" EXACT [] synonym: "Niemann Pick disease, acute neuronopathic form" EXACT [] synonym: "Niemann Pick disease, acute neurovisceral form" EXACT [] synonym: "Niemann Pick disease, neuronopathic type" EXACT [] synonym: "SMPD1-related condition" BROAD [] synonym: "sphingomyelin/cholesterol lipidosis" EXACT [] synonym: "sphingomyelin cholesterol lipidoses" EXACT [] synonym: "sphingomyelin lipidoses" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [] synonym: "supraoptic vertical ophthalmoplegia" EXACT [] xref: GARD:7206 xref: MESH:D052536 xref: MIM:257200 xref: MONDO:0009756 xref: NCI:C126561 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070112 name: Niemann-Pick disease type B def: "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)" [PMID:12369017 "DO", PMID:13696518 "DO"] synonym: "acid sphingomyelinase deficiency, visceral type" EXACT [] synonym: "Niemann Pick's disease type B" EXACT [] synonym: "Niemann Pick's disease type E" NARROW [] synonym: "Niemann-Pick disease, adult non neuronopathic" EXACT [] synonym: "NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION" NARROW [] synonym: "Niemann Pick Disease, Non Neuronopathic Type" EXACT [] synonym: "Niemann-Pick disease, type E" NARROW [] synonym: "Niemann-Pick disease, type F" NARROW [] synonym: "Niemann-Pick disease, visceral" EXACT [] synonym: "SMPD1-related condition" BROAD [] synonym: "sphingomyelin/cholesterol lipidosis" EXACT [] xref: GARD:10729 xref: MESH:C564366 xref: MESH:D052537 xref: MIM:607616 xref: MONDO:0011871 xref: NCI:C126866 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070113 name: Niemann-Pick disease type C1 alt_id: MIM:257220 def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. (DO)" [PMID:11182931 "DO"] synonym: "Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia" EXACT [] synonym: "NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D" NARROW [] synonym: "Niemann-Pick's disease type C" BROAD [] synonym: "Niemann Pick Disease, Chronic Neuronopathic Form" EXACT [] synonym: "Niemann Pick disease, Subacute Juvenile Form" EXACT [] synonym: "Niemann-Pick disease, type C" BROAD [] synonym: "Niemann-Pick disease type C1, adult form" EXACT [] synonym: "Niemann-Pick disease type C1, juvenile form" EXACT [] synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [] synonym: "Niemann-Pick disease without sphingomyelinase deficiency" EXACT [] synonym: "NPC" BROAD [] synonym: "NPC1" EXACT [] synonym: "NPC1-RELATED CONDITION" BROAD [] xref: GARD:7207 xref: MESH:D052556 xref: NCI:C126864 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070114 name: Niemann-Pick disease type C2 def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. (DO)" [PMID:17470133 "DO"] synonym: "Niemann-Pick disease C2" EXACT [] synonym: "NPC2" EXACT [] synonym: "NPC2-RELATED CONDITION" EXACT [] xref: GARD:3992 xref: MESH:C536119 xref: MIM:607625 xref: MONDO:0011873 xref: NCI:C126865 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070115 name: Meckel syndrome 1 alt_id: MIM:249000 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. (DO)" [PMID:16415886 "DO"] synonym: "dysencephalia splachnocystica" EXACT [] synonym: "dysencephalia splanchnocystica" EXACT [] synonym: "Gruber syndrome" EXACT [] synonym: "Meckel-Gruber syndrome, type 1" EXACT [] synonym: "Meckel syndrome type 1" EXACT [] synonym: "Meckel syndrome type1" EXACT [] synonym: "MES" EXACT [] synonym: "MKS" EXACT [] synonym: "MKS1" EXACT [] xref: MESH:C536133 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:0070116 name: Meckel syndrome 2 alt_id: MIM:603194 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. (DO)" [PMID:20512146 "DO"] synonym: "Meckel-Gruber syndrome, type 2" EXACT [] synonym: "Meckel syndrome type 2" EXACT [] synonym: "MKS2" EXACT [] xref: ICD10CM:Q61.9 xref: MESH:C536131 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:0070117 name: Meckel syndrome 3 alt_id: MIM:607361 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. (DO)" [PMID:16415887 "DO"] synonym: "Meckel-Gruber Syndrome, Type 3" EXACT [] synonym: "Meckel syndrome type 3" EXACT [] synonym: "MKS3" EXACT [] xref: MESH:C536132 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:0070118 name: Meckel syndrome 4 alt_id: MIM:611134 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. (DO)" [PMID:17564974 "DO"] synonym: "CEP290-related disorder" BROAD [] synonym: "Meckel-Gruber Syndrome, Type 4" EXACT [] synonym: "MECKEL-LIKE CEREBRORENODIGITAL SYNDROME" NARROW [] synonym: "Meckel syndrome type 4" EXACT [] synonym: "MKS4" EXACT [] xref: MESH:C567003 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1148 ! polydactyly is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0070119 name: Meckel syndrome 5 alt_id: MIM:611561 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. (DO)" [PMID:17558409 "DO"] synonym: "Meckel-Gruber syndrome, type 5" EXACT [] synonym: "Meckel syndrome type 5" EXACT [] synonym: "MKS5" EXACT [] xref: MESH:C566915 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0070120 name: Meckel syndrome 6 alt_id: MIM:612284 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. (DO)" [PMID:18513680 "DO"] synonym: "CC2D2A-RELATED DISORDER" BROAD [] synonym: "Meckel-Gruber syndrome, type 6" EXACT [] synonym: "Meckel syndrome, type 6" EXACT [] synonym: "MKS6" EXACT [] xref: MESH:C567365 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0070121 name: Meckel syndrome 7 alt_id: MIM:267010 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. (DO)" [PMID:18371931 "DO"] synonym: "Goldston syndrome" EXACT [] synonym: "Meckel-Gruber syndrome, type 7" EXACT [] synonym: "Meckel like syndrome" EXACT [] synonym: "Meckel syndrome, type 7" EXACT [] synonym: "MKS7" EXACT [] synonym: "renal hepatic pancreatic dysplasia, Dandy Walker cyst" EXACT [] synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" EXACT [] xref: MESH:C537756 xref: ORDO:3032 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia is_a: DOID:9005686 ! Dandy Walker Cyst is_a: DOID:9006554 ! Pancreatic Cyst [Term] id: DOID:0070122 name: Meckel syndrome 8 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. (DO)" [PMID:21462283 "DO"] synonym: "Meckel-Gruber syndrome, type 8" EXACT [] synonym: "Meckel syndrome type 8" EXACT [] synonym: "MKS8" EXACT [] synonym: "TCTN2-related disorder" BROAD [] synonym: "TCTN2-related disorders" BROAD [] xref: MIM:613885 xref: MONDO:0013482 xref: ORDO:90674 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070123 name: congenital nongoitrous hypothyroidism 4 def: "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. (DO)" [PMID:2792087 "DO"] synonym: "CHNG4" EXACT [] synonym: "deficiency of thyroid-stimulating hormone" EXACT [] synonym: "isolated thyrotropin deficiency" EXACT [] synonym: "pituitary cretinism" EXACT [] synonym: "pituitary cretinism thyrotropin, biologically inactive" NARROW [] synonym: "TSHB-RELATED CONDITION" EXACT [] xref: ICD10CM:E03.1 xref: MIM:275100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070124 name: congenital nongoitrous hypothyroidism 2 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)" [PMID:9590296 "DO"] synonym: "athyreotic hypothyroidism" EXACT [] synonym: "CHNG2" EXACT [] synonym: "congenital hypothyroidism due to thyroid dysgenesis" EXACT [] synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT [] synonym: "ectopic thyroid" RELATED [] synonym: "PAX8-related condition" BROAD [] xref: MESH:C566852 xref: MIM:218700 xref: MONDO:0024264 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8433 ! thyroid malformation is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070125 name: congenital nongoitrous hypothyroidism 5 alt_id: MIM:225250 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)" [PMID:16418214 "DO"] synonym: "CHNG5" EXACT [] xref: MESH:C567123 xref: ORDO:90673 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070126 name: congenital nongoitrous hypothyroidism 1 def: "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. (DO)" [PMID:8954020 "DO"] synonym: "CHNG1" EXACT [] synonym: "Hypothyroidism, Nonautoimmune" EXACT [] xref: MESH:C576976 xref: MIM:275200 xref: MONDO:0010142 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070127 name: congenital nongoitrous hypothyroidism 3 def: "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. (DO)" [PMID:15870119 "DO", PMID:8976668 "DO"] synonym: "CHNG3" EXACT [] xref: MESH:C567935 xref: MIM:609893 xref: MONDO:0012360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070128 name: congenital nongoitrous hypothyroidism 6 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. (DO)" [PMID:22168587 "DO"] synonym: "CHNG6" EXACT [] synonym: "THRA-RELATED CONDITION" EXACT [] xref: MIM:614450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070129 name: autosomal recessive cutis laxa type IID def: "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. (DO)" [PMID:28065471 "DO"] synonym: "ARCL2D" EXACT [] synonym: "ATP6V1A-RELATED CONDITION" BROAD [] xref: MIM:617403 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070130 name: autosomal dominant cutis laxa 1 alt_id: RDO:0007941 def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. (DO)" [PMID:9580666 "DO", PMID:9873040 "DO"] synonym: "ADCL1" EXACT [] synonym: "ELN-RELATED CONDITION" BROAD [] synonym: "ELN-RELATED DISORDER" BROAD [] xref: MIM:123700 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070131 name: autosomal dominant cutis laxa 3 def: "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [PMID:26320891 "DO"] synonym: "ADCL3" EXACT [] xref: MIM:616603 xref: RDO:9001420 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070132 name: autosomal recessive cutis laxa type IIIA def: "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [PMID:11092761 "DO"] synonym: "ARCL3A" EXACT [] synonym: "CUTIS LAXA-CORNEAL CLOUDING-OLIGOPHRENIA SYNDROME" EXACT [] synonym: "DE BARSY SYNDROME A" EXACT [] xref: MIM:219150 xref: MONDO:0009053 xref: ORDO:35664 is_a: DOID:0070143 ! autosomal recessive cutis laxa type III [Term] id: DOID:0070133 name: autosomal recessive cutis laxa type IB def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (DO)" [PMID:16685658 "DO", PMID:19664000 "DO"] synonym: "ARCL1B" EXACT [] synonym: "autosomal recessive cutis laxa type 1B" EXACT [] xref: MIM:614437 xref: MONDO:0013754 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070134 name: autosomal recessive cutis laxa type IIA alt_id: MIM:219200 def: "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (DO)" [PMID:18157129 "DO", PMID:19401719 "DO"] synonym: "ARCL2" EXACT [] synonym: "ARCL2A" EXACT [] synonym: "cutis laxa, Debre type" EXACT [] synonym: "Cutis Laxa With Bone Dystrophy" EXACT [] synonym: "CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION" EXACT [] synonym: "Cutis Laxa With Growth And Developmental Delay" EXACT [] synonym: "Cutis Laxa With Joint Laxity And Retarded Development" EXACT [] synonym: "cutis laxa with or without congenital disorder of glycosylation" EXACT [] synonym: "CUTIS LAXA WITH OSTEODYSTROPHY" EXACT [] xref: MESH:C562632 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070135 name: autosomal recessive cutis laxa type IA def: "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)" [PMID:12189163 "DO"] synonym: "ARCL1" EXACT [] synonym: "ARCL1A" EXACT [] synonym: "autosomal recessive cutis laxa type 1A" EXACT [] xref: MIM:219100 xref: MONDO:0009052 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070136 name: autosomal dominant cutis laxa 2 alt_id: RDO:9000259 def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)" [PMID:12618961 "DO"] synonym: "ADCL2" EXACT [] xref: MIM:614434 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070137 name: autosomal recessive cutis laxa type IIB alt_id: MIM:612940 def: "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. (DO)" [PMID:19576563 "DO"] synonym: "ARCL2B" EXACT [] synonym: "ARCL2, progeroid type" EXACT [] synonym: "autosomal recessive cutis laxa type 2B" EXACT [] synonym: "Cutis Laxa With Progeroid Features" EXACT [] synonym: "PYCR1-RELATED CONDITION" BROAD [] xref: MESH:C567855 xref: ORDO:357064 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070138 name: autosomal recessive cutis laxa type IIIB def: "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. (DO)" [PMID:19648921 "DO"] synonym: "ARCL3B" EXACT [] synonym: "De Barsy syndrome B" EXACT [] synonym: "PYCR1-related condition" BROAD [] xref: MIM:614438 xref: MONDO:0013755 is_a: DOID:0070143 ! autosomal recessive cutis laxa type III [Term] id: DOID:0070139 name: autosomal recessive cutis laxa type IC alt_id: MIM:613177 def: "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)" [PMID:19836010 "DO"] synonym: "ARCL1C" EXACT [] synonym: "autosomal recessive cutis laxa type 1C" EXACT [] synonym: "cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities" EXACT [] synonym: "LTBP4-RELATED CONDITION" EXACT [] synonym: "Urban-Rifkin-Davis syndrome" EXACT [] synonym: "URDS" EXACT [] xref: MESH:C567716 xref: ORDO:221145 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I is_a: DOID:1222 ! cartilage disease is_a: DOID:1579 ! respiratory system disease is_a: DOID:18 ! urinary system disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:0070140 name: autosomal recessive cutis laxa type IIC alt_id: DOID:9003003 def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. (DO)" [PMID:28065471 "DO"] synonym: "ARCL2C" EXACT [] synonym: "ATP6V1E1-related condition" BROAD [] xref: MIM:617402 xref: MONDO:0027462 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070141 name: autosomal recessive cutis laxa type II classic type def: "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. (DO)" [PMID:28065471 "DO"] synonym: "ARCL2, classic type" EXACT [] synonym: "ARCL2, Debre type" EXACT [] xref: ORDO:357074 is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa [Term] id: DOID:0070142 name: autosomal dominant cutis laxa def: "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. (DO)" [PMID:18348261 "DO"] synonym: "ADCL" EXACT [] synonym: "dominant cutis laxa" EXACT [] xref: MESH:C562627 xref: ORDO:90348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070143 name: autosomal recessive cutis laxa type III def: "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. (DO)" [PMID:18388779 "DO"] synonym: "corneal clouding, cutis laxa, mental retardation" EXACT [] synonym: "cutis laxa, corneal clouding, and mental retardation" EXACT [] synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT [] synonym: "De Barsy Moens Diercks syndrome" EXACT [] synonym: "De Barsy syndrome" EXACT [] synonym: "progeroid syndrome of De Barsy" EXACT [] xref: GARD:49 xref: MESH:C535990 xref: ORDO:2962 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:0070144 name: autosomal recessive cutis laxa type I alt_id: DOID:9008926 alt_id: RDO:0012256 def: "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. (DO)" [PMID:19401719 "DO"] synonym: "autosomal recessive cutis laxa, I" EXACT [] synonym: "autosomal recessive cutis laxa type 1" EXACT [] xref: GARD:8480 xref: MESH:C562628 xref: ORDO:90439 is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa [Term] id: DOID:0070145 name: hereditary sensory and autonomic neuropathy type 5 def: "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (DO)" [PMID:14976160 "DO", PMID:77656 "DO"] synonym: "congenital sensory neuropathy with selective loss of small myelinated fibers" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type V" EXACT [] synonym: "hereditary sensory autonomic neuropathy, type 5" EXACT [] synonym: "HSAN 5" EXACT [] synonym: "HSAN5" EXACT [] synonym: "HSAN Type V" EXACT [] synonym: "HSAN V" EXACT [] xref: GARD:12328 xref: MIM:608654 xref: MONDO:0012092 xref: NCI:C125386 xref: NCI:C156360 xref: ORDO:608654 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008482 ! Congenital Pain Insensitivity [Term] id: DOID:0070146 name: hereditary sensory neuropathy type 4 def: "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)" [PMID:14272277 "DO", PMID:8696348 "DO"] synonym: "CIPA" EXACT [] synonym: "congenital insensitivity to pain with anhidrosis" EXACT [] synonym: "congenital pain insensitivity with anhidrosis" EXACT [] synonym: "congenital sensory neuropathy with anhidrosis" EXACT [] synonym: "familial dysautonomia, type II" EXACT [] synonym: "hereditary sensory and autonomic neuropathy 4" EXACT [] synonym: "hereditary sensory and autonomic neuropathy IV" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type 4" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IV" EXACT [] synonym: "hereditary sensory autonomic neuropathy, type 4" EXACT [] synonym: "hereditary sensory neuropathy type IV" EXACT [] synonym: "HSAN 4" EXACT [] synonym: "HSAN4" EXACT [] synonym: "HSAN IV" EXACT [] synonym: "HSAN type IV" EXACT [] synonym: "NTRK1-related condition" BROAD [] xref: GARD:3006 xref: MIM:256800 xref: MONDO:0009746 xref: NCI:C118633 xref: ORDO:642 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11156 ! anhidrosis is_a: DOID:9008482 ! Congenital Pain Insensitivity [Term] id: DOID:0070147 name: hereditary sensory neuropathy type 2C alt_id: RDO:9000616 def: "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)" [PMID:21820098 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IIC" EXACT [] synonym: "hereditary sensory neuropathy, type IIC" EXACT [] synonym: "HSN2C" EXACT [] xref: MIM:614213 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070148 name: cerebellar ataxia, neuropathy, and vestibular areflexia syndrome alt_id: DOID:9009139 def: "A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC8262986/ "DO", PMID:32873692 "DO", PMID:41084404 "DO"] synonym: "CANVAS" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type 1B" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IB" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type I, with cough and gastroesophageal reflux" EXACT [] synonym: "hereditary sensory neuropathy type 1B" EXACT [] synonym: "hereditary sensory neuropathy, type IB" EXACT [] synonym: "HSAN1B" EXACT [] synonym: "HSAN with cough and gastroesophageal reflux" EXACT [] synonym: "HSN1B" EXACT [] synonym: "RFC1-related condition" BROAD [] xref: MESH:C000726747 xref: MESH:C564296 xref: MIM:614575 xref: MONDO:0044720 xref: NCI:C202046 xref: ORDO:139564 xref: ORDO:504476 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:225 ! syndrome is_a: DOID:8534 ! gastroesophageal reflux disease is_a: DOID:9006473 ! Bilateral Vestibulopathy is_a: DOID:9007073 ! Cough [Term] id: DOID:0070149 name: hereditary sensory and autonomic neuropathy type 7 def: "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)" [PMID:24036948 "DO"] synonym: "congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type VII" EXACT [] synonym: "HSAN7" EXACT [] synonym: "HSAN VII" EXACT [] xref: GARD:12723 xref: ICD10CM:G60.8 xref: MIM:615548 xref: MONDO:0014244 xref: NCI:C125388 xref: ORDO:391397 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070150 name: hereditary sensory and autonomic neuropathy type 2B alt_id: OMIA:002032 def: "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (DO)" [PMID:19838196 "DO", PMID:24327336 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IIB" EXACT [] synonym: "HSAN2B" EXACT [] synonym: "RETREG1-RELATED CONDITION" EXACT [] xref: MIM:613115 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070151 name: hereditary sensory and autonomic neuropathy type 6 def: "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. (DO)" [PMID:22522446 "DO"] synonym: "DST-RELATED CONDITION" BROAD [] synonym: "hereditary sensory and autonomic neuropathy, type VI" EXACT [] synonym: "HSAN6" EXACT [] synonym: "HSAN VI" EXACT [] xref: MIM:614653 xref: MONDO:0013839 xref: ORDO:314381 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070152 name: hereditary sensory and autonomic neuropathy type 1A def: "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)" [PMID:11242114 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IA" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type IA, severe" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type I, severe" EXACT [] synonym: "hereditary sensory neuropathy type IA" EXACT [] synonym: "hereditary sensory radicular neuropathy, autosomal dominant, type 1A" EXACT [] synonym: "HSAN1A" EXACT [] synonym: "HSAN IA" EXACT [] synonym: "HSN1A" EXACT [] synonym: "HSN IA" EXACT [] synonym: "SPTLC1-RELATED CONDITION" BROAD [] xref: MIM:162400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070153 name: hereditary sensory and autonomic neuropathy type 8 def: "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. (DO)" [PMID:26005867 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type VIII" EXACT [] synonym: "HSAN8" EXACT [] synonym: "HSAN VIII" EXACT [] xref: MIM:616488 xref: MONDO:0014662 xref: ORDO:478664 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070154 name: hereditary sensory neuropathy type 1F def: "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)" [PMID:24459106 "DO"] synonym: "hereditary sensory neuropathy type IF" EXACT [] synonym: "HSN 1F" EXACT [] synonym: "HSN1F" EXACT [] synonym: "HSN IF" EXACT [] xref: MIM:615632 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070155 name: hereditary sensory and autonomic neuropathy type 2A def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)" [PMID:14152533 "DO", PMID:15060842 "DO"] synonym: "acroosteolysis, Giaccai type" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IIA" EXACT [] synonym: "hereditary sensory neuropathy, type IIA" EXACT [] synonym: "HSAN2A" EXACT [] synonym: "HSAN IIA" EXACT [] synonym: "HSN2A" EXACT [] synonym: "HSN IIA" EXACT [] synonym: "Morvan disease" RELATED [] synonym: "neurogenic acroosteolysis" EXACT [] synonym: "progressive sensory neuropathy, of children" EXACT [] xref: MIM:201300 xref: MONDO:0024309 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070156 name: hereditary sensory neuropathy type 1D def: "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. (DO)" [PMID:21194679 "DO"] synonym: "hereditary sensory neuropathy type ID" EXACT [] synonym: "HSN1D" EXACT [] xref: MIM:613708 xref: MONDO:0013381 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070157 name: hereditary sensory and autonomic neuropathy type 1C def: "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. (DO)" [PMID:20920666 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IC" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IC, severe" EXACT [] synonym: "hereditary sensory neuropathy, type IC" EXACT [] synonym: "HSAN1C" EXACT [] synonym: "HSAN IC" EXACT [] synonym: "HSN1C" EXACT [] synonym: "HSN IC" EXACT [] xref: MIM:613640 xref: MONDO:0013337 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070158 name: hereditary sensory neuropathy type 1E alt_id: MIM:614116 alt_id: RDO:0015895 def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. (DO)" [PMID:21532572 "DO"] synonym: "dementia, deafness, and sensory neuropathy" EXACT [] synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" EXACT [] synonym: "DNMT1-RELATED DISORDER" BROAD [] synonym: "hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IE" EXACT [] synonym: "hereditary sensory neuropathy type IE" EXACT [] synonym: "hereditary sensory neuropathy with hearing loss and dementia" EXACT [] synonym: "HSN1E" EXACT [] synonym: "HSN IE" EXACT [] synonym: "HSNIE" EXACT [] xref: GARD:11927 xref: MESH:C580162 xref: NCI:C214873 xref: ORDO:456318 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070159 name: hereditary sensory neuropathy X-linked def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. (DO)" [PMID:3866836 "DO"] xref: MESH:C564090 xref: MIM:310470 xref: MONDO:0010688 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0070160 name: atypical hereditary sensory neuropathy alt_id: RDO:0013735 def: "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. (DO)" [PMID:191348 "DO"] xref: MESH:C564946 xref: MIM:256860 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070161 name: hereditary sensory and autonomic neuropathy type 2 def: "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. (DO)" [PMID:21089229 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type II" EXACT [] synonym: "hereditary sensory neuropathy, type II" EXACT [] synonym: "HSAN 2" EXACT [] synonym: "HSAN2" EXACT [] synonym: "HSAN II" EXACT [] synonym: "HSANII" EXACT [] xref: GARD:3976 xref: MESH:C567738 xref: MONDO:0019941 xref: ORDO:970 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070162 name: hereditary sensory and autonomic neuropathy type 1 def: "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. (DO)" [PMID:18348718 "DO"] synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [] synonym: "HSAN1" EXACT [] xref: GARD:6635 xref: NCI:C170433 xref: ORDO:36386 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070163 name: spermatogenic failure 21 def: "A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. (DO)" [PMID:28199965 "DO"] synonym: "SPGF21" EXACT [] xref: MIM:617644 xref: MONDO:0054725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0070164 name: spermatogenic failure 2 def: "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. (DO)" [PMID:15367911 "DO"] synonym: "ASG" EXACT [] synonym: "aspermiogenesis factor" EXACT [] synonym: "SPGF2" EXACT [] xref: MIM:108420 xref: MONDO:0007161 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070165 name: spermatogenic failure 18 def: "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)" [PMID:24360805 "DO"] synonym: "DNAH1-RELATED CONDITION" BROAD [] synonym: "SPGF18" EXACT [] xref: MIM:617576 xref: MONDO:0054615 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070166 name: spermatogenic failure 20 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. (DO)" [PMID:28552195 "DO"] synonym: "CFAP44-related condition" BROAD [] synonym: "SPGF20" EXACT [] xref: MIM:617593 xref: MONDO:0054724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070167 name: spermatogenic failure 6 def: "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. (DO)" [PMID:17847006 "DO"] synonym: "acrosome malformation of spermatozoa" BROAD [] synonym: "round-headed spermatozoa" BROAD [] synonym: "SPATA16-related condition" BROAD [] synonym: "SPGF6" EXACT [] xref: MIM:102530 xref: MONDO:0007060 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia [Term] id: DOID:0070168 name: spermatogenic failure 3 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. (DO)" [PMID:23582645 "DO"] synonym: "non-obstructive azoospermia" EXACT [] synonym: "nonobstructive azoospermia" EXACT [] synonym: "SLC26A8-related condition" BROAD [] synonym: "SPGF3" EXACT [] xref: MESH:C564665 xref: MIM:606766 xref: MONDO:0011720 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070169 name: spermatogenic failure 8 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)" [PMID:20887963 "DO"] synonym: "SPGF8" EXACT [] xref: MIM:613957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070170 name: spermatogenic failure 19 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. (DO)" [PMID:28552195 "DO"] synonym: "CFAP43-RELATED CONDITION" BROAD [] synonym: "SPGF19" EXACT [] xref: MIM:617592 xref: MONDO:0054723 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070171 name: spermatogenic failure 12 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. (DO)" [PMID:23315541 "DO"] synonym: "NANOS1-RELATED DISORDER" EXACT [] synonym: "SPGF12" EXACT [] xref: MIM:615413 xref: MONDO:0014172 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070172 name: spermatogenic failure 15 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. (DO)" [PMID:25899990 "DO"] synonym: "SPGF15" EXACT [] xref: MIM:616950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070173 name: spermatogenic failure 7 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. (DO)" [PMID:19344877 "DO"] synonym: "CATSPER1-related male infertility" EXACT [] synonym: "CATSPER1-related nonsyndromic male infertility" EXACT [] synonym: "CATSPER-related nonsyndromic male infertility" EXACT [] synonym: "MIAR" EXACT [] synonym: "MIM:612997" EXACT [] synonym: "nonsyndromic male infertility, autosomal recessive" BROAD [] synonym: "SPGF7" EXACT [] xref: MESH:C567832 xref: MESH:C579978 xref: MONDO:0013070 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:9001513 ! Asthenozoospermia [Term] id: DOID:0070174 name: spermatogenic failure 17 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. (DO)" [PMID:26721930 "DO"] synonym: "male infertility due to oocyte activation failure" EXACT [] synonym: "PLCZ1-RELATED CONDITION" EXACT [] synonym: "SPGF17" EXACT [] xref: MIM:617214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070176 name: spermatogenic failure 4 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. (DO)" [PMID:14643120 "DO"] synonym: "Arrest of Spermatogenesis" EXACT [] synonym: "Azoospermia Due To Perturbations Of Meiosis" EXACT [] synonym: "Azoospermia With Maturation Arrest" EXACT [] synonym: "EARLY SPERMATOGENESIS MATURATION ARREST" NARROW [] synonym: "recurrent pregnancy loss 4" RELATED [] synonym: "RPRGL4" RELATED [] synonym: "Spermatogenesis arrest" EXACT [] synonym: "SPERMATOGENESIS MATURATION ARREST" EXACT [] synonym: "SPGF4" EXACT [] xref: MESH:C536875 xref: MIM:270960 xref: MONDO:0010052 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070177 name: spermatogenic failure 22 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. (DO)" [PMID:28206990 "DO"] synonym: "MEIOB-RELATED CONDITION" BROAD [] synonym: "SPGF22" EXACT [] xref: MIM:617706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070178 name: spermatogenic failure 10 def: "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. (DO)" [PMID:22275165 "DO"] synonym: "spermatogenic failure with defective sperm annulus" EXACT [] synonym: "SPGF10" EXACT [] xref: MIM:614822 xref: MONDO:0013901 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070179 name: spermatogenic failure 14 def: "A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. (DO)" [PMID:24431330 "DO"] synonym: "SPGF14" EXACT [] synonym: "ZMYND15-related condition" BROAD [] xref: MIM:615842 xref: MONDO:0014366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070180 name: spermatogenic failure 11 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. (DO)" [PMID:17047026 "DO"] synonym: "KLHL10-RELATED CONDITION" EXACT [] synonym: "SPGF11" EXACT [] xref: MIM:615081 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070181 name: spermatogenic failure 23 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. (DO)" [PMID:28206990 "DO"] synonym: "SPGF23" EXACT [] synonym: "TEX14-RELATED CONDITION" EXACT [] xref: MIM:617707 xref: MONDO:0054727 xref: OMIA:001673 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070182 name: spermatogenic failure 13 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. (DO)" [PMID:24431330 "DO"] synonym: "SPGF13" EXACT [] synonym: "TAF4B-RELATED CONDITION" EXACT [] xref: MIM:615841 xref: MONDO:0014365 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070183 name: spermatogenic failure 5 alt_id: MIM:243060 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)" [PMID:17435757 "DO"] synonym: "Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid" EXACT [] synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" EXACT [] synonym: "infertility associated with multitailed spermatozoa and excessive DNA" EXACT [] synonym: "macrocephalic sperm head syndrome" EXACT [] synonym: "male infertility due to macrozoospermia" EXACT [] synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [] synonym: "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER" EXACT [] synonym: "SPGF5" EXACT [] xref: GARD:12385 xref: MESH:C562903 xref: ORDO:137893 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070184 name: spermatogenic failure 16 def: "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. (DO)" [PMID:27640305 "DO"] synonym: "SPGF16" EXACT [] xref: MIM:617187 xref: MONDO:0014961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0070185 name: X-linked spermatogenic failure 2 def: "A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. (DO)" [PMID:25970010 "DO"] synonym: "male infertility from defect in meiosis" EXACT [] synonym: "SPGFX2" EXACT [] synonym: "TEX11-RELATED CONDITION" EXACT [] xref: MIM:309120 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070186 name: Y-linked spermatogenic failure 1 alt_id: MIM:400042 def: "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. (DO)" [PMID:2603934 "DO"] synonym: "hypospermatogenesis" NARROW [] synonym: "Sertoli cell-only syndrome, incomplete" NARROW [] synonym: "Sertoli cell-only syndrome, type 1" EXACT [] synonym: "Sertoli cell-only syndrome, type I" EXACT [] synonym: "Sertoli cell-only syndrome, Y-linked" EXACT [] synonym: "SPGFY1" EXACT [] xref: MESH:C537587 is_a: DOID:0050457 ! Sertoli cell-only syndrome is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0070187 name: Y-linked spermatogenic failure 2 alt_id: MIM:415000 def: "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. (DO)" [PMID:19737515 "DO"] synonym: "AZF regions" NARROW [] synonym: "azoospermia factor regions" NARROW [] synonym: "HYPOSPERMATOGENESIS, NONOBSTRUCTIVE, Y-LINKED" EXACT [] synonym: "nonobstructive azoospermia, Y-linked" EXACT [] synonym: "nonobstructive spermatogenic failure, Y-linked" EXACT [] synonym: "SPGFY2" EXACT [] synonym: "Y-linked nonobstructive oligospermia" EXACT [] synonym: "Y-linked nonobstructive oligozoospermia" EXACT [] synonym: "Y-linked spermatogenic arrest" EXACT [] xref: MESH:C564030 xref: NCI:C185244 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070188 name: spermatogenic failure 1 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. (DO)" [PMID:7446525 "DO"] synonym: "oligochiasmatic infertility" EXACT [] synonym: "oligochiasmic infertility" EXACT [] synonym: "oligosynaptic infertility" EXACT [] synonym: "SPGF1" EXACT [] synonym: "SYCP2-related condition" BROAD [] xref: MESH:C562902 xref: MIM:258150 xref: MONDO:0009776 is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070189 name: X-linked spermatogenic failure 1 def: "A Sertoli cell-only syndrome characterized by X-linked inheritance. (DO)" [PMID:10507722 "DO"] synonym: "SPGFX1" EXACT [] xref: MIM:305700 is_a: DOID:0050457 ! Sertoli cell-only syndrome [Term] id: DOID:0070191 name: autosomal recessive chronic granulomatous disease 2 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)" [PMID:7795241 "DO"] synonym: "autosomal recessive CGD, cytochrome B-positive, type II" EXACT [] synonym: "autosomal recessive chronic granulomatous disease, cytochrome B-positive, type 2" EXACT [] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type II" EXACT [] synonym: "CDG2" EXACT [] synonym: "CGD2" EXACT [] synonym: "chronic granulomatous disease due to deficiency of NCF-2" EXACT [] synonym: "chronic granulomatous disease due to NCF2 deficiency" EXACT [] synonym: "deficiency of NCF2" EXACT [] synonym: "deficiency of neutrophil cytosol factor 2" EXACT [] synonym: "deficiency of P67-Phox" EXACT [] synonym: "NCF2 deficiency" EXACT [] synonym: "neutrophil cytosol factor 2 deficiency" EXACT [] synonym: "p67-phox deficiency" EXACT [] xref: MESH:C565531 xref: MIM:233710 xref: MONDO:0009310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070192 name: autosomal recessive chronic granulomatous disease 1 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. (DO)" [PMID:2770793 "DO"] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type I" EXACT [] synonym: "CDG1" EXACT [] synonym: "CGD1" EXACT [] synonym: "CGD, autosomal recessive cytochrome B-positive, type I" EXACT [] synonym: "chronic granulomatous disease due to deficiency of NCF-1" EXACT [] synonym: "chronic granulomatous disease due to NCF1 deficiency" EXACT [] synonym: "deficiency of NCF1" EXACT [] synonym: "deficiency of neutrophil cytosol factor 1" EXACT [] synonym: "deficiency of p47-phox" EXACT [] synonym: "deficiency of SOC2" EXACT [] synonym: "deficiency of soluble oxidase component II" EXACT [] synonym: "NCF1 deficiency" EXACT [] synonym: "neutrophil cytosol factor 1 deficiency" EXACT [] synonym: "p47-phox deficiency" EXACT [] synonym: "SOC2 deficiency" EXACT [] xref: MESH:C565532 xref: MIM:233700 xref: MONDO:0009309 xref: NCI:C154314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070193 name: autosomal recessive chronic granulomatous disease 4 alt_id: MIM:233690 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)" [PMID:2770793 "DO"] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-negative" EXACT [] synonym: "autosomal recessive cytochrome b-negative CGD" EXACT [] synonym: "CGD4" EXACT [] synonym: "CGD due to deficiency of the alpha subunit of cytochrome b" EXACT [] synonym: "chronic granulomatous disease due to deficiency of CYBA" EXACT [] synonym: "chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B" EXACT [] synonym: "CYBA Deficiency" EXACT [] xref: MESH:C565533 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070194 name: autosomal recessive chronic granulomatous disease 3 def: "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)" [PMID:19692703 "DO"] synonym: "autosomal recessive CGD, cytochrome B-positive, type III" EXACT [] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type III" EXACT [] synonym: "CDG3" EXACT [] synonym: "CGD3" EXACT [] synonym: "chronic granulomatous disease, due to NCF4 deficiency" EXACT [] synonym: "NCF4-RELATED CONDITION" EXACT [] xref: MIM:613960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070195 name: X-linked chronic granulomatous disease alt_id: DOID:0070190 def: "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)" [PMID:4039107 "DO"] synonym: "atypical chronic granulomatous disease" NARROW [] synonym: "CDGX" EXACT [] synonym: "CGDX" EXACT [] synonym: "CYBB-related condition" BROAD [] synonym: "X-linked chronic granulomatous disease, cytochrome B-negative" EXACT [] synonym: "X-linked chronic granulomatous disease, cytochrome B-positive" NARROW [] synonym: "X-linked chronic granulomatous disease, variant" NARROW [] xref: MIM:306400 xref: MONDO:0010600 xref: NCI:C154315 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070196 name: infantile-onset distal myopathy alt_id: MIM:160300 def: "A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. (DO)" [PMID:5834698 "DO"] synonym: "distal myopathy with onset in infancy" EXACT [] xref: MESH:C563543 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070197 name: distal myopathy 1 def: "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. (DO)" [PMID:15322983 "DO", PMID:7847377 "DO"] synonym: "distal 1 myopathies" EXACT [] synonym: "distal myopathy type 1" EXACT [] synonym: "Gowers disease" EXACT [] synonym: "Laing distal myopathy" EXACT [] synonym: "Laing early-onset distal myopathy" EXACT [] synonym: "MPD1" EXACT [] xref: GARD:10769 xref: MIM:160500 xref: MONDO:0008050 xref: OMIA:001200 xref: ORDO:59135 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070198 name: Miyoshi muscular dystrophy def: "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)" [PMID:3942856 "DO"] synonym: "distal muscular dystrophy, late onset, autosomal recessive" EXACT [] synonym: "Miyoshi distal myopathy" EXACT [] synonym: "Miyoshi myopathy" EXACT [] xref: GARD:9676 xref: MESH:C537480 xref: MIM:PS254130 xref: ORDO:45448 is_a: DOID:11720 ! distal myopathy is_a: DOID:767 ! muscular atrophy [Term] id: DOID:0070199 name: Miyoshi muscular dystrophy 1 def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)" [PMID:9731526 "DO"] synonym: "Miyoshi myopathy 1" EXACT [] synonym: "MMD1" EXACT [] xref: MIM:254130 xref: MONDO:0024545 xref: NCI:C118846 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070200 name: Miyoshi muscular dystrophy 2 def: "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. (DO)" [PMID:9673985 "DO"] synonym: "Miyoshi Myopathy 2" EXACT [] synonym: "MMD2" EXACT [] xref: MESH:C567646 xref: MIM:613318 xref: MONDO:0013221 is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070201 name: Miyoshi muscular dystrophy 3 def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. (DO)" [PMID:20096397 "DO"] synonym: "Miyoshi myopathy 3" EXACT [] synonym: "MMD3" EXACT [] xref: MESH:C567645 xref: MIM:613319 xref: MONDO:0013222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070202 name: familial partial lipodystrophy type 2 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)" [PMID:10587585 "DO", PMID:170190 "DO"] synonym: "Dunnigan syndrome" EXACT [] synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [] synonym: "familial partial lipodystrophy Dunnigan type" EXACT [] synonym: "FPLD2" EXACT [] synonym: "partial lipodystrophy, Dunnigan" EXACT [] xref: GARD:3126 xref: MIM:151660 xref: MONDO:0007906 xref: NCI:C165527 xref: ORDO:2348 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:0070203 name: familial partial lipodystrophy type 5 def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. (DO)" [PMID:20049731 "DO"] synonym: "CIDEC-RELATED CONDITION" EXACT [] synonym: "CIDEC-related FPLD" EXACT [] synonym: "familial partial lipodystrophy associated with CIDEC mutations" EXACT [] synonym: "FPLD5" EXACT [] xref: MIM:615238 xref: ORDO:435651 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070204 name: familial partial lipodystrophy type 3 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. (DO)" [PMID:10622252 "DO"] synonym: "familial partial lipodystrophy associated with PPARG mutations" EXACT [] synonym: "FPLD3" EXACT [] synonym: "PPARG-related familial partial lipodystrophy" EXACT [] synonym: "PPARG-related FPLD" EXACT [] xref: GARD:12600 xref: MIM:604367 xref: MONDO:0011448 xref: ORDO:79083 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070205 name: familial partial lipodystrophy type 4 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. (DO)" [PMID:21345103 "DO"] synonym: "familial partial lipodystrophy associated with PLIN1 mutations" EXACT [] synonym: "FPLD4" EXACT [] synonym: "PLIN1-RELATED CONDITION" EXACT [] synonym: "PLIN1-related familial partial lipodystrophy" EXACT [] synonym: "PLIN1-related FPLD" EXACT [] xref: GARD:12601 xref: MIM:613877 xref: ORDO:280356 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070206 name: familial partial lipodystrophy type 6 def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)" [PMID:24848981 "DO"] synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [] synonym: "FPLD6" EXACT [] synonym: "LIPE-RELATED CONDITION" EXACT [] synonym: "LIPE-related familial partial lipodystrophy" EXACT [] synonym: "LIPE-related FPLD" EXACT [] xref: MIM:615980 xref: ORDO:435660 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070207 name: familial partial lipodystrophy type 1 def: "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. (DO)" [PMID:3712389 "DO"] synonym: "familial partial lipodystrophy, Kobberling type" EXACT [] synonym: "familial partial lipodystrophy, Köbberling type" EXACT [] synonym: "FPLD1" EXACT [] xref: GARD:12598 xref: MIM:608600 xref: MONDO:0012072 xref: ORDO:79084 is_a: DOID:0050440 ! familial partial lipodystrophy [Term] id: DOID:0070208 name: hereditary lymphedema IC def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)" [PMID:20537300 "DO"] synonym: "LMPH1C" EXACT [] synonym: "LYMPHATIC MALFORMATION 3" EXACT [] xref: MIM:613480 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070209 name: hereditary lymphedema ID def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. (DO)" [PMID:23410910 "DO"] synonym: "LMPH1D" EXACT [] xref: MIM:615907 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070210 name: hereditary lymphedema IA def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. (DO)" [PMID:10835628 "DO", PMID:9817924 "DO"] synonym: "early-onset primary congenital lymphedema" EXACT [] synonym: "EDEMA OF THE DORSUM OF FEET" NARROW [] synonym: "hereditary lymphedema type I" EXACT [] synonym: "LMPH1A" EXACT [] synonym: "LMPHM1" EXACT [] synonym: "LYMPHATIC MALFORMATION 1" EXACT [] synonym: "MILROY DISEASE LYMPHEDEMA" EXACT [] synonym: "Nonne-Milroy lymphedema" EXACT [] synonym: "PCL" EXACT [] xref: MIM:153100 xref: MONDO:0007919 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070211 name: hereditary lymphedema IB alt_id: MIM:611944 def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. (DO)" [PMID:18193458 "DO"] synonym: "LMPH1B" EXACT [] xref: MESH:C567452 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070212 name: hereditary lymphedema I def: "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. (DO)" [PMID:9817924 "DO"] synonym: "congenital primary lymphedema" EXACT [] synonym: "hereditary lymphedema 1" EXACT [] synonym: "hereditary lymphedema type I" EXACT [] synonym: "LMPH1" EXACT [] synonym: "Milroy's disease" EXACT [] synonym: "Milroy disease" EXACT [] synonym: "Milroys disease" EXACT [] synonym: "Nonne-Milroy lymphedema" EXACT [] synonym: "PCL" EXACT [] xref: ICD10CM:Q82.0 xref: NCI:C48829 xref: ORDO:79452 is_a: DOID:0050580 ! hereditary lymphedema [Term] id: DOID:0070213 name: hereditary lymphedema II def: "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. (DO)" [PMID:6342849 "DO"] synonym: "late-onset lymphedema" EXACT [] synonym: "LMPH2" EXACT [] synonym: "lymphedema praecox" EXACT [] synonym: "lymphedema preacox" EXACT [] synonym: "Meige disease" EXACT [] synonym: "Meige lymphedema" EXACT [] xref: GARD:3324 xref: ICD10CM:I89.0 xref: MESH:C562467 xref: MIM:153200 xref: ORDO:90186 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070214 name: familial hyperinsulinemic hypoglycemia 7 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. (DO)" [PMID:17701893 "DO"] synonym: "EIHI" EXACT [] synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [] synonym: "exercise-induced hyperinsulinism" EXACT [] synonym: "HHF7" EXACT [] synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [] synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [] xref: GARD:9932 xref: MESH:C538376 xref: MIM:610021 xref: MONDO:0012396 xref: NCI:C131839 xref: ORDO:165991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070215 name: familial hyperinsulinemic hypoglycemia 4 alt_id: MIM:609975 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. (DO)" [PMID:11489939 "DO"] synonym: "HHF4" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [] synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:2819 xref: MESH:C566493 xref: ORDO:71212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070216 name: familial hyperinsulinemic hypoglycemia 3 alt_id: MIM:602485 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. (DO)" [PMID:11916951 "DO", PMID:9435328 "DO"] synonym: "HHF3" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [] synonym: "hyperinsulinism due to glucokinase deficiency" EXACT [] xref: GARD:2818 xref: MESH:C538374 xref: ORDO:79299 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070217 name: familial hyperinsulinemic hypoglycemia 6 alt_id: MIM:606762 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. (DO)" [PMID:8769351 "DO", PMID:9571255 "DO"] synonym: "GLUD1-RELATED CONDITION" EXACT [] synonym: "HHF6" EXACT [] synonym: "HI/HA syndrome" EXACT [] synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT [] xref: GARD:9931 xref: MESH:C538375 xref: ORDO:35878 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070218 name: familial hyperinsulinemic hypoglycemia 2 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. (DO)" [PMID:8923010 "DO", PMID:9356020 "DO"] synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [] synonym: "HHF2" EXACT [] xref: MIM:601820 xref: MONDO:0011153 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070219 name: familial hyperinsulinemic hypoglycemia 1 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. (DO)" [PMID:7005072 "DO", PMID:7716548 "DO", PMID:8545179 "DO"] synonym: "CONGENITAL ISOLATED HYPERINSULINISM" EXACT [] synonym: "HHF1" EXACT [] synonym: "HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA" EXACT [] synonym: "HYPERINSULINISM, CONGENITAL" EXACT [] synonym: "HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS" EXACT [] synonym: "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY" EXACT [] synonym: "NESIDIOBLASTOSIS OF PANCREAS" EXACT [] xref: MIM:256450 xref: MONDO:0009734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070220 name: familial hyperinsulinemic hypoglycemia 5 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. (DO)" [PMID:15161766 "DO"] synonym: "HHF5" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [] synonym: "hyperinsulinism due to INSR deficiency" EXACT [] xref: MESH:C566494 xref: MIM:609968 xref: MONDO:0012381 xref: ORDO:263458 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070221 name: progressive familial intrahepatic cholestasis def: "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)" [PMID:15239083 "DO", PMID:8014759 "DO"] synonym: "PFIC" EXACT [] xref: MIM:PS211600 xref: MONDO:0015762 xref: NCI:C84453 xref: ORDO:172 is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:630 ! genetic disease [Term] id: DOID:0070222 name: progressive familial intrahepatic cholestasis 2 alt_id: MIM:601847 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)" [PMID:9806540 "DO"] synonym: "ABCB11-RELATED CONDITION" BROAD [] synonym: "BSEP deficiency" EXACT [] synonym: "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" BROAD [] synonym: "PFIC2" EXACT [] synonym: "PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" EXACT [] xref: GARD:1288 xref: MESH:C535934 xref: ORDO:79304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070223 name: progressive familial intrahepatic cholestasis 3 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)" [PMID:9419367 "DO"] synonym: "ABCB4-related intrahepatic cholestasis" EXACT [] synonym: "Low gamma-GT Familial Intrahepatic Cholestasis" EXACT [] synonym: "MDR3 Deficiency" EXACT [] synonym: "PFIC3" EXACT [] synonym: "progressive familial intrahepatic cholestasis 3 (PFIC 3)" EXACT [] synonym: "progressive familial intrahepatic cholestasis 3 (PFIC3)" EXACT [] synonym: "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase" EXACT [] synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" EXACT [] xref: GARD:1289 xref: MESH:C535935 xref: MIM:602347 xref: MONDO:0011214 xref: ORDO:79305 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070224 name: progressive familial intrahepatic cholestasis 4 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. (DO)" [PMID:24614073 "DO"] synonym: "PFIC4" EXACT [] synonym: "progressive familial intrahepatic cholestasis, (PFIC4-like)" RELATED [] synonym: "TJP2 deficit" EXACT [] synonym: "TJP2-RELATED CONDITION" BROAD [] xref: MIM:615878 xref: ORDO:480483 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070225 name: progressive familial intrahepatic cholestasis 5 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. (DO)" [PMID:26888176 "DO"] synonym: "NR1H4 deficiency" EXACT [] synonym: "NR1H4-RELATED CONDITION" EXACT [] synonym: "PFIC5" EXACT [] xref: MIM:617049 xref: ORDO:480476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070226 name: progressive familial intrahepatic cholestasis 1 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)" [PMID:9500542 "DO"] synonym: "Byler's disease" EXACT [] synonym: "Byler disease" EXACT [] synonym: "fatal intrahepatic cholestasis" EXACT [] synonym: "FIC1 deficiency" EXACT [] synonym: "PFIC1" EXACT [] synonym: "progressive familial intrahepatic cholestasis" EXACT [] synonym: "progressive familial intrahepatic cholestasis type 1 (PFIC 1)" EXACT [] synonym: "progressive familial intrahepatic cholestasis type 1 (PFIC1)" EXACT [] xref: GARD:9802 xref: MESH:C535933 xref: MIM:211600 xref: MONDO:0008892 xref: ORDO:79306 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070227 name: intrahepatic cholestasis of pregnancy def: "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. (DO)" [PMID:27936482 "DO"] synonym: "cholestasis of pregnancy" EXACT [] synonym: "familial intrahepatic cholestasis of pregnancy" EXACT [] synonym: "familial recurrent intrahepatic cholestasis of pregnancy" EXACT [] synonym: "gravidic intrahepatic cholestasis" EXACT [] synonym: "ICP" EXACT [] synonym: "obstetric cholestasis" EXACT [] synonym: "pregnancy related cholestasis" EXACT [] synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [] xref: EFO:0009048 xref: GARD:9804 xref: MESH:C535932 xref: ORDO:69665 is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:0070228 name: intrahepatic cholestasis of pregnancy 1 def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)" [PMID:15888793 "DO"] synonym: "ICP1" EXACT [] synonym: "pregnancy related cholestasis 1" EXACT [] xref: MIM:147480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy [Term] id: DOID:0070229 name: intrahepatic cholestasis of pregnancy 3 def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. (DO)" [PMID:9419367 "DO"] synonym: "ICP3" EXACT [] synonym: "pregnancy related cholestasis 3" EXACT [] xref: EFO:0009150 xref: MIM:614972 xref: MONDO:0013995 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy [Term] id: DOID:0070230 name: benign recurrent intrahepatic cholestasis def: "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. (DO)" [PMID:23402083 "DO"] synonym: "BRIC" EXACT [] synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [] xref: GARD:12185 xref: MIM:PS243300 xref: MONDO:0019008 xref: NCI:C84402 xref: ORDO:65682 is_a: DOID:1852 ! intrahepatic cholestasis [Term] id: DOID:0070231 name: benign recurrent intrahepatic cholestasis 1 def: "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. (DO)" [PMID:9500542 "DO"] synonym: "BRIC1" EXACT [] synonym: "BRIC type 1" EXACT [] synonym: "Summerskill syndrome" EXACT [] xref: GARD:10028 xref: MIM:243300 xref: ORDO:99960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis [Term] id: DOID:0070232 name: benign recurrent intrahepatic cholestasis 2 def: "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)" [PMID:15300568 "DO"] synonym: "ABCB11-RELATED CONDITION" BROAD [] synonym: "benign recurrent intrahepatic cholestasis 2 (BRIC2)" EXACT [] synonym: "benign recurrent intrahepatic cholestasis type 2" EXACT [] synonym: "BRIC2" EXACT [] synonym: "BRIC type 2" EXACT [] synonym: "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" BROAD [] xref: GARD:10029 xref: MIM:605479 xref: MONDO:0011559 xref: ORDO:99961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis [Term] id: DOID:0070233 name: Loeys-Dietz syndrome 4 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)" [PMID:22772368 "DO"] synonym: "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" EXACT [] synonym: "LDS4" EXACT [] xref: MIM:614816 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070234 name: Loeys-Dietz syndrome 2 alt_id: MIM:610168 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)" [PMID:15235604 "DO", PMID:15731757 "DO"] synonym: "AAT3" EXACT [] synonym: "familial thoracic aortic aneurysm 3" EXACT [] synonym: "familial throacic aortic aneurysm 3" RELATED [] synonym: "LDS2" EXACT [] synonym: "Loeys-Dietz Syndrome, Type 2" EXACT [] synonym: "Loeys-Dietz Syndrome, Type 2b" EXACT [] synonym: "Marfan syndrome/Loeys-Dietz syndrome/familial thoracic aortic aneurysms and dissections" EXACT [] synonym: "Marfan syndrome, type II" EXACT [] xref: EFO:0009299 xref: MESH:C537783 xref: NCI:C114768 is_a: DOID:0050466 ! Loeys-Dietz syndrome is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:0070235 name: Loeys-Dietz syndrome 1 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. (DO)" [PMID:15731757 "DO"] synonym: "AAT5" EXACT [] synonym: "familial thoracic aortic aneurysm 5" EXACT [] synonym: "familial throacic aortic aneurysm 5" EXACT [] synonym: "Furlong syndrome" EXACT [] synonym: "LDS1" EXACT [] synonym: "Loeys-Dietz syndrome, type 2A" EXACT [] synonym: "TGFBR1-RELATED DISORDER" BROAD [] xref: MESH:C567156 xref: MIM:609192 xref: MONDO:0012212 is_a: DOID:0050466 ! Loeys-Dietz syndrome is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:0070236 name: Loeys-Dietz syndrome 5 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)" [PMID:23824657 "DO", PMID:25835445 "DO"] synonym: "LDS5" EXACT [] synonym: "Reinhoff syndrome" EXACT [] synonym: "Rienhoff syndrome" EXACT [] synonym: "RNHF" EXACT [] synonym: "TGFB3-RELATED CONDITION" BROAD [] xref: EFO:1000012 xref: MIM:615582 xref: MONDO:0014262 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070237 name: Loeys-Dietz syndrome 3 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. (DO)" [PMID:21217753 "DO"] synonym: "ANEURYSMS-OSTEOARTHRITIS SYNDROME" EXACT [] synonym: "LDS1C" EXACT [] synonym: "LDS3" EXACT [] synonym: "LOEYS-DIETZ SYNDROME, TYPE 1C" EXACT [] synonym: "Loeys-Dietz syndrome with osteoarthritis" EXACT [] synonym: "SMAD3-RELATED CONDITION" EXACT [] xref: MIM:613795 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070238 name: primary coenzyme Q10 deficiency 1 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. (DO)" [PMID:19375058 "DO"] synonym: "coenzyme Q deficiency 1" EXACT [] synonym: "COQ10D1" EXACT [] synonym: "COQ2-related condition" BROAD [] synonym: "CoQ deficiency 1" EXACT [] synonym: "primary CoQ10 deficiency 1" EXACT [] synonym: "ubiquinone deficiency 1" EXACT [] xref: MIM:607426 xref: MONDO:0011829 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070239 name: primary coenzyme Q10 deficiency 2 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)" [PMID:17332895 "DO"] synonym: "COQ10D2" EXACT [] synonym: "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [] synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [] synonym: "PDSS1-RELATED CONDITION" EXACT [] xref: MIM:614651 xref: ORDO:254898 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070240 name: primary coenzyme Q10 deficiency 3 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. (DO)" [PMID:17186472 "DO"] synonym: "COQ10D3" EXACT [] synonym: "PDSS2-RELATED CONDITION" EXACT [] xref: MIM:614652 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070241 name: primary coenzyme Q10 deficiency 4 alt_id: MIM:612016 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. (DO)" [PMID:18319072 "DO"] synonym: "autosomal recessive cerebellar ataxia type 2" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 9" EXACT [] synonym: "COQ10D4" EXACT [] synonym: "COQ8A-RELATED CONDITION" EXACT [] synonym: "SCAR9" EXACT [] xref: GARD:10294 xref: MESH:C567436 xref: ORDO:139485 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070242 name: primary coenzyme Q10 deficiency 5 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. (DO)" [PMID:19375058 "DO"] synonym: "COQ10D5" EXACT [] synonym: "COQ9-RELATED CONDITION" EXACT [] synonym: "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" EXACT [] synonym: "ORDO:319678" EXACT [] xref: MIM:614654 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070243 name: primary coenzyme Q10 deficiency 6 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. (DO)" [PMID:21540551 "DO"] synonym: "COQ10D6" EXACT [] synonym: "COQ6-RELATED CONDITION" EXACT [] synonym: "familial steroid-resistant nephrotic syndrome with sensorineural deafness" EXACT [] xref: MIM:614650 xref: ORDO:280406 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070244 name: primary coenzyme Q10 deficiency 7 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. (DO)" [PMID:25658047 "DO"] synonym: "COQ10D7" EXACT [] synonym: "COQ4-related neonatal encephalomyopathy" EXACT [] synonym: "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" EXACT [] xref: MIM:616276 xref: ORDO:457185 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070245 name: primary coenzyme Q10 deficiency 8 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. (DO)" [PMID:26084283 "DO"] synonym: "coenzyme Q10 deficiency-8" EXACT [] synonym: "COQ10D8" EXACT [] synonym: "COQ7-related condition" BROAD [] xref: MIM:616733 xref: MONDO:0014754 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070246 name: X-linked Emery-Dreifuss muscular dystrophy 1 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. (DO)" [PMID:8042665 "DO"] synonym: "EDMD1" EXACT [] synonym: "EMD1" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 1" EXACT [] synonym: "tardive muscular dystrophy, Dreifuss-Emery type, with contractures" EXACT [] synonym: "X-linked scapuloperoneal syndrome" EXACT [] xref: MESH:C535734 xref: MIM:310300 xref: MONDO:0100531 xref: NCI:C168730 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy is_a: DOID:9006836 ! Contracture [Term] id: DOID:0070247 name: autosomal dominant Emery-Dreifuss muscular dystrophy 2 alt_id: DOID:0110301 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (DO)" [PMID:10080180 "DO", PMID:10814726 "DO", PMID:30055862 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [] synonym: "EDMD2" EXACT [] synonym: "EMD2" EXACT [] synonym: "Emery Dreifuss muscular dystrophy 2" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [] synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [] synonym: "LGMD1B" EXACT [] synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [] synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" EXACT [] synonym: "proximal muscular dystrophy type 1B" EXACT [] synonym: "scapuloilioperoneal atrophy with cardiopathy" EXACT [] xref: MIM:181350 xref: MONDO:0021569 xref: NCI:C126745 xref: ORDO:264 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy is_a: DOID:9008000 ! Autosomal Emery-Dreifuss Muscular Dystrophy [Term] id: DOID:0070248 name: autosomal recessive Emery-Dreifuss muscular dystrophy 3 alt_id: MIM:616516 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. (DO)" [PMID:10739764 "DO"] synonym: "atypical Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [] synonym: "EDMD3" EXACT [] xref: MESH:C567633 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008000 ! Autosomal Emery-Dreifuss Muscular Dystrophy [Term] id: DOID:0070249 name: autosomal dominant Emery-Dreifuss muscular dystrophy 4 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)" [PMID:17761684 "DO"] synonym: "EDMD4" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 4" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" EXACT [] xref: MESH:C567831 xref: MIM:612998 xref: MONDO:0013071 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070250 name: autosomal dominant Emery-Dreifuss muscular dystrophy 5 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. (DO)" [PMID:17761684 "DO"] synonym: "EDMD5" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 5" EXACT [] synonym: "SYNE2-related condition" EXACT [] xref: MESH:C567830 xref: MIM:612999 xref: MONDO:0013072 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070251 name: X-linked Emery-Dreifuss muscular dystrophy 6 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. (DO)" [PMID:18179888 "DO"] synonym: "EDMD6" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 6" EXACT [] synonym: "X-Linked Myopathy with Postural Muscle Atrophy" EXACT [] synonym: "XMPMA" EXACT [] xref: MIM:300696 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070252 name: autosomal dominant Emery-Dreifuss muscular dystrophy 7 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. (DO)" [PMID:21391237 "DO"] synonym: "EDMD7" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 7, AD" EXACT [] xref: MIM:614302 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070253 name: congenital disorder of glycosylation type IIa def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. (DO)" [PMID:8127054 "DO"] synonym: "Alkuraya syndrome" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome, type 2" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome, type II" EXACT [] synonym: "CDG2A" EXACT [] synonym: "CDG IIA" EXACT [] synonym: "CDGIIA" EXACT [] synonym: "CDGS2" EXACT [] synonym: "congenital disorder of glycosylation type 2A" EXACT [] synonym: "mental retardation, growth retardation, prominent columella, and open mouth" EXACT [] xref: GARD:9828 xref: MESH:C535752 xref: MIM:212066 xref: MONDO:0008908 xref: ORDO:79329 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:0070254 name: congenital disorder of glycosylation type IIb alt_id: MIM:606056 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. (DO)" [PMID:10788335 "DO"] synonym: "CDG2B" EXACT [] synonym: "CDG IIB" EXACT [] synonym: "CDGIIB" EXACT [] synonym: "congenital disorder of glycosylation type 2B" EXACT [] synonym: "glucosidase I deficiency" EXACT [] xref: GARD:10767 xref: MESH:C565264 xref: ORDO:79330 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070255 name: congenital disorder of glycosylation type IIc def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. (DO)" [PMID:10590041 "DO"] comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases. synonym: "CDG2C" EXACT [] synonym: "CDG IIc" EXACT [] synonym: "CDGIIc" EXACT [] synonym: "congenital disorder of glycosylation type 2C" EXACT [] synonym: "Rambam Hasharon syndrome" EXACT [] synonym: "RHS" EXACT [] xref: GARD:4634 xref: MESH:C535755 xref: MIM:266265 xref: NCI:C4690 xref: ORDO:99843 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070256 name: congenital disorder of glycosylation type IId alt_id: MESH:C564625 alt_id: MIM:607091 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. (DO)" [PMID:11901181 "DO"] synonym: "B4GALT1-RELATED CONDITION" EXACT [] synonym: "CDG2D" EXACT [] synonym: "CDG IID" EXACT [] synonym: "CDGIID" EXACT [] synonym: "congenital disorder of glycosylation type 2D" EXACT [] synonym: "congenital disorder of glycosylation, type IIID" RELATED [] xref: GARD:9841 xref: MESH:C535753 xref: ORDO:79332 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070257 name: congenital disorder of glycosylation type IIe def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. (DO)" [PMID:15107842 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [] synonym: "CDG2E" EXACT [] synonym: "CDG IIE" EXACT [] synonym: "CDGIIE" EXACT [] synonym: "CDG syndrome type IIe" EXACT [] synonym: "COG7-CDG" EXACT [] synonym: "COG7-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2E" EXACT [] xref: GARD:9842 xref: MESH:C535754 xref: MIM:608779 xref: MONDO:0012118 xref: ORDO:79333 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070258 name: congenital disorder of glycosylation type IIf alt_id: MIM:603585 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. (DO)" [PMID:11157507 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [] synonym: "CDG2F" EXACT [] synonym: "CDG IIF" EXACT [] synonym: "CDGIIF" EXACT [] synonym: "CMP-sialic acid transporter deficiency" EXACT [] synonym: "congenital disorder of glycosylation type 2F" EXACT [] synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MODIFIER OF" RELATED [] synonym: "SLC35A1-CDG" EXACT [] synonym: "SLC35A1-RELATED CONDITION" EXACT [] xref: GARD:12409 xref: MESH:C567040 xref: MONDO:0011342 xref: ORDO:238459 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070259 name: congenital disorder of glycosylation type IIg def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. (DO)" [PMID:16537452 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [] synonym: "CDG2G" EXACT [] synonym: "CDGII/COG1 cerebrocostomandibular-like syndrome" EXACT [] synonym: "CDG IIG" EXACT [] synonym: "CDGIIG" EXACT [] synonym: "congenital disorder of glycosylation type 2G" EXACT [] xref: GARD:10226 xref: MESH:C535756 xref: MIM:611209 xref: MONDO:0012637 xref: ORDO:263508 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070260 name: congenital disorder of glycosylation type IIh def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. (DO)" [PMID:17220172 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [] synonym: "CDG2H" EXACT [] synonym: "CDG IIh" EXACT [] synonym: "CDGIIH" EXACT [] synonym: "CDG IIIH" EXACT [] synonym: "COG8-CDG" EXACT [] synonym: "COG8-RELATED CONDITION" EXACT [] synonym: "congenital disorder of glycosylation type 2H" EXACT [] xref: GARD:12411 xref: MESH:C566987 xref: MIM:611182 xref: MONDO:0012635 xref: ORDO:95428 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070261 name: congenital disorder of glycosylation type IIi def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. (DO)" [PMID:19690088 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIi" EXACT [] synonym: "CDG2I" EXACT [] synonym: "CDG IIi" EXACT [] synonym: "CDGIIi" EXACT [] synonym: "CDG syndrome type IIi" EXACT [] synonym: "COG5-CDG" EXACT [] synonym: "COG5-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2I" EXACT [] xref: GARD:12348 xref: MIM:613612 xref: MONDO:0013325 xref: ORDO:263487 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070262 name: congenital disorder of glycosylation type IIj def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. (DO)" [PMID:19494034 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [] synonym: "CDG2J" EXACT [] synonym: "CDG IIj" EXACT [] synonym: "CDGIIj" EXACT [] synonym: "CDG syndrome type IIj" EXACT [] synonym: "COG4-CDG" EXACT [] synonym: "COG4-RELATED CONDITION" BROAD [] synonym: "COG4-related congenital disorder of glycosylation, autosomal dominant" NARROW [] synonym: "congenital disorder of glycosylation type 2J" EXACT [] xref: GARD:12412 xref: MIM:613489 xref: MONDO:0013281 xref: ORDO:263501 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070263 name: congenital disorder of glycosylation type IIk def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. (DO)" [PMID:22683087 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [] synonym: "CDG2k" EXACT [] synonym: "CDG IIk" EXACT [] synonym: "CDGIIk" EXACT [] synonym: "CDG syndrome type IIk" EXACT [] synonym: "congenital disorder of glycosylation type 2K" EXACT [] synonym: "TMEM165-CDG" EXACT [] xref: GARD:12413 xref: MIM:614727 xref: MONDO:0013870 xref: ORDO:314667 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070264 name: congenital disorder of glycosylation type IIl def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. (DO)" [PMID:20605848 "DO"] synonym: "CDG2L" EXACT [] synonym: "CDG IIl" EXACT [] synonym: "CDGIIl" EXACT [] synonym: "CDG syndrome type IIL" EXACT [] synonym: "COG6-CGD" EXACT [] synonym: "COG6-RELATED CONDITION" BROAD [] synonym: "COG6-RELATED DISORDER" BROAD [] synonym: "congenital disorder of glycosylation type 2L" EXACT [] xref: GARD:10944 xref: MIM:614576 xref: MONDO:0013810 xref: ORDO:464443 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070265 name: congenital disorder of glycosylation type IIm alt_id: DOID:0080469 def: "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)" [PMID:23561849 "DO"] synonym: "CDG2M" EXACT [] synonym: "CDG IIm" EXACT [] synonym: "CDGIIm" EXACT [] synonym: "CDG syndrome type IIm" EXACT [] synonym: "congenital disorder of glycosylation type 2M" EXACT [] synonym: "DEE22" EXACT [] synonym: "developmental and epileptic encephalopathy 22" EXACT [] synonym: "early infantile epileptic encephalopathy 22" EXACT [] synonym: "EIEE22" EXACT [] synonym: "SLC35A2-CDG" EXACT [] xref: GARD:12403 xref: MIM:300896 xref: MONDO:0010478 xref: ORDO:356961 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070266 name: congenital disorder of glycosylation type IIn def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. (DO)" [PMID:26637978 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT [] synonym: "CDG2N" EXACT [] synonym: "CDG IIn" EXACT [] synonym: "CDGIIn" EXACT [] synonym: "CDG syndrome type IIn" EXACT [] synonym: "congenital disorder of glycosylation type 2N" EXACT [] synonym: "SLC39A8-CDG" EXACT [] synonym: "SLC39A8-RELATED CONDITION" EXACT [] xref: MIM:616721 xref: MONDO:0014746 xref: ORDO:468699 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070267 name: congenital disorder of glycosylation type IIo def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. (DO)" [PMID:26833332 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT [] synonym: "CCDC115-CDG" EXACT [] synonym: "CCDC115-RELATED CONDITION" EXACT [] synonym: "CDG2O" EXACT [] synonym: "CDG IIo" EXACT [] synonym: "CDGIIo" EXACT [] synonym: "CDG syndrome type IIo" EXACT [] synonym: "congenital disorder of glycosylation type 2O" EXACT [] xref: MIM:616828 xref: MONDO:0014789 xref: ORDO:468684 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070268 name: congenital disorder of glycosylation type IIp def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. (DO)" [PMID:26833330 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT [] synonym: "CDG2P" EXACT [] synonym: "CDG IIp" EXACT [] synonym: "CDGIIp" EXACT [] synonym: "CDG syndrome type IIp" EXACT [] synonym: "congenital disorder of glycosylation type 2P" EXACT [] synonym: "TMEM199-CDG" EXACT [] synonym: "TMEM199-related condition" BROAD [] xref: MIM:616829 xref: MONDO:0014790 xref: ORDO:466703 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070269 name: congenital disorder of glycosylation type IIq def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. (DO)" [PMID:24784932 "DO"] synonym: "CDG2Q" EXACT [] synonym: "CDG IIq" EXACT [] synonym: "CDGIIq" EXACT [] synonym: "COG2-CDG" EXACT [] synonym: "COG2-related congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2Q" EXACT [] xref: MIM:617395 xref: MONDO:0054559 xref: ORDO:435934 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070270 name: hereditary nonpolyposis colorectal cancer type 8 def: "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. (DO)" [PMID:19098912 "DO"] synonym: "EPCAM-related condition" BROAD [] synonym: "HNPCC8" EXACT [] xref: MESH:C567685 xref: MIM:613244 xref: MONDO:0013196 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070271 name: Lynch syndrome 1 def: "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. (DO)" [PMID:8261515 "DO", PMID:8574961 "DO"] synonym: "COCA 1" EXACT [] synonym: "COCA1" EXACT [] synonym: "Colon cancer, familial nonpolyposis, type 1" EXACT [] synonym: "FCC1" EXACT [] synonym: "hereditary non-polyposis colon cancer type 1" EXACT [] synonym: "hereditary nonpolyposis colorectal cancer, type 1" EXACT [] synonym: "HNPCC1" EXACT [] synonym: "Lynch cancer family syndrome I" RELATED [] synonym: "Lynch syndrome I" RELATED [] synonym: "Lynch syndrome I (site-specific colonic cancer)" RELATED [] synonym: "Lynch syndrome II" RELATED [] xref: MESH:C537261 xref: MIM:120435 xref: MONDO:0007356 xref: NCI:C6725 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070272 name: hereditary nonpolyposis colorectal cancer type 5 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. (DO)" [PMID:9354786 "DO"] synonym: "hereditary nonpolyposis colon cancer type 5" EXACT [] synonym: "HNPCC5" EXACT [] xref: MESH:C563456 xref: MIM:614350 xref: MONDO:0013710 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070273 name: hereditary nonpolyposis colorectal cancer type 6 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. (DO)" [PMID:9590282 "DO"] synonym: "hereditary nonpolyposis colon cancer type 6" EXACT [] synonym: "HNPCC6" EXACT [] xref: MESH:C566039 xref: MIM:614331 xref: MONDO:0013695 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070274 name: hereditary nonpolyposis colorectal cancer type 2 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. (DO)" [PMID:8128251 "DO"] synonym: "COCA2" EXACT [] synonym: "familial nonpolyposis colon cancer type 2" EXACT [] synonym: "FCC2" EXACT [] synonym: "HNPCC2" EXACT [] synonym: "Lynch cancer family syndrome 2" EXACT [] synonym: "Lynch cancer family syndrome II" EXACT [] synonym: "Lynch syndrome II" EXACT [] synonym: "MLH1-related condition" BROAD [] xref: MESH:D055847 xref: MIM:609310 xref: MONDO:0012249 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070275 name: hereditary nonpolyposis colorectal cancer type 4 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. (DO)" [PMID:8072530 "DO"] synonym: "HNPCC4" EXACT [] synonym: "LYNCH4" EXACT [] synonym: "Lynch syndrome 4" EXACT [] synonym: "PMS2-RELATED CONDITION" BROAD [] xref: MESH:C563971 xref: MIM:614337 xref: MONDO:0013699 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070276 name: hereditary nonpolyposis colorectal cancer type 7 def: "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. (DO)" [PMID:12702580 "DO"] synonym: "hereditary nonpolyposis colorectal cancer-7" EXACT [] synonym: "HNPCC7" EXACT [] synonym: "MLH3-related Lynch syndrome" EXACT [] xref: MESH:C565777 xref: MIM:614385 xref: MONDO:0013725 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070277 name: primary autosomal recessive microcephaly 15 def: "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (DO)" [PMID:26005868 "DO", PMID:30043326 "DO"] synonym: "MCPH15" EXACT [] synonym: "MFSD2A-RELATED CONDITION" EXACT [] synonym: "NEDMISBA" EXACT [] synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" EXACT [] xref: MIM:616486 xref: MONDO:0014660 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070278 name: primary autosomal recessive microcephaly 7 alt_id: MIM:612703 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. (DO)" [PMID:19215732 "DO"] synonym: "MCPH7" EXACT [] synonym: "STIL-RELATED CONDITION" EXACT [] xref: MESH:C567198 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070279 name: primary autosomal recessive microcephaly 14 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. (DO)" [PMID:24951542 "DO"] synonym: "MCPH14" EXACT [] synonym: "SASS6-RELATED CONDITION" EXACT [] xref: MIM:616402 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070280 name: primary autosomal recessive microcephaly 5 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. (DO)" [PMID:12355089 "DO"] synonym: "ASPM-related condition" BROAD [] synonym: "MCPH5" EXACT [] synonym: "primary autosomal recessive microcephaly 5 with simplified gyral pattern" NARROW [] xref: MESH:C563871 xref: MESH:C567221 xref: MIM:608716 xref: MONDO:0012106 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070281 name: primary autosomal recessive microcephaly 19 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. (DO)" [PMID:29036432 "DO"] synonym: "COPB2-related condition" BROAD [] synonym: "MCPH19" EXACT [] xref: MIM:617800 xref: MONDO:0054716 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070282 name: primary autosomal recessive microcephaly 8 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. (DO)" [PMID:22521416 "DO"] synonym: "CEP135-RELATED CONDITION" EXACT [] synonym: "MCPH8" EXACT [] xref: MIM:614673 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070283 name: primary autosomal recessive microcephaly 13 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)" [PMID:24748105 "DO"] synonym: "CENPE-RELATED CONDITION" EXACT [] synonym: "MCPH13" EXACT [] xref: MIM:616051 xref: MONDO:0014473 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070284 name: primary autosomal recessive microcephaly 12 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. (DO)" [PMID:23918663 "DO"] synonym: "CDK6-RELATED CONDITION" EXACT [] synonym: "MCPH12" EXACT [] xref: MIM:616080 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070285 name: primary autosomal recessive microcephaly 1 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)" [PMID:12046007 "DO"] synonym: "MCPH1" EXACT [] synonym: "MCPH1-related condition" BROAD [] synonym: "PCC syndrome" EXACT [] synonym: "premature chromosome condensation syndrome" EXACT [] synonym: "premature chromosome condensation with microcephaly and mental retardation" EXACT [] xref: MESH:C565384 xref: MIM:251200 xref: MONDO:0009617 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070286 name: primary autosomal recessive microcephaly 3 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. (DO)" [PMID:15793586 "DO"] synonym: "CDK5RAP2-RELATED CONDITION" EXACT [] synonym: "MCPH3" EXACT [] xref: MESH:C565746 xref: MIM:604804 xref: MONDO:0011488 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070287 name: primary autosomal recessive microcephaly 11 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. (DO)" [PMID:23418308 "DO"] synonym: "MCPH11" EXACT [] synonym: "PHC1-RELATED CONDITION" EXACT [] xref: MIM:615414 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070288 name: primary autosomal recessive microcephaly 17 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. (DO)" [PMID:27453578 "DO"] synonym: "CIT-RELATED CONDITION" EXACT [] synonym: "MCPH17" EXACT [] xref: MIM:617090 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070289 name: primary autosomal recessive microcephaly 16 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. (DO)" [PMID:25259927 "DO"] synonym: "ANKLE2-RELATED CONDITION" EXACT [] synonym: "MCPH16" EXACT [] xref: MIM:616681 xref: MONDO:0014730 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070290 name: primary autosomal recessive microcephaly 6 alt_id: MIM:608393 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. (DO)" [PMID:15793586 "DO"] synonym: "CENPJ-RELATED CONDITION" BROAD [] synonym: "CENPJ-related disorder" BROAD [] synonym: "MCPH6" EXACT [] xref: MESH:C564247 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070291 name: primary autosomal recessive microcephaly 4 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. (DO)" [PMID:22983954 "DO"] synonym: "KNL1-related condition" BROAD [] synonym: "MCPH4" EXACT [] xref: MESH:C565792 xref: MIM:604321 xref: MONDO:0011437 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070292 name: primary autosomal recessive microcephaly 9 def: "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)" [PMID:15806441 "DO", PMID:20598275 "DO"] synonym: "CEP152-related condition" BROAD [] synonym: "CEP152-related disorder" BROAD [] synonym: "CEP152-related disorders" BROAD [] synonym: "MCPH9" EXACT [] xref: MIM:614852 xref: MONDO:0013923 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070293 name: primary autosomal recessive microcephaly 2 with or without cortical malformations def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. (DO)" [PMID:20890279 "DO"] synonym: "MCPH2" EXACT [] synonym: "MICROCEPHALY, CORTICAL MALFORMATIONS, AND INTELLECTUAL DISABILITY" NARROW [] synonym: "primary autosomal recessive microcephaly 2" EXACT [] synonym: "primary microcephaly 2 with or without cortical malformations" EXACT [] synonym: "PRIMARY MICROCEPHALY TYPE 2" EXACT [] synonym: "WDR62-related condition" BROAD [] xref: MESH:C565794 xref: MIM:604317 xref: MONDO:0011435 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070294 name: primary autosomal recessive microcephaly 10 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. (DO)" [PMID:23178126 "DO"] synonym: "MCPH10" EXACT [] synonym: "ZNF335-RELATED CONDITION" EXACT [] xref: MIM:615095 is_a: DOID:0070296 ! autosomal recessive primary microcephaly [Term] id: DOID:0070295 name: primary autosomal dominant microcephaly 18 def: "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)" [PMID:27008544 "DO"] synonym: "MCPH18" EXACT [] synonym: "WDFY3-related condition" BROAD [] synonym: "WDFY3-RELATED DISORDER" EXACT [] xref: MIM:617520 xref: MONDO:0054593 is_a: DOID:0061100 ! autosomal dominant primary microcephaly [Term] id: DOID:0070296 name: autosomal recessive primary microcephaly def: "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. (DO)" [PMID:15806441 "DO", PMID:28912110 "DO"] synonym: "MCPH" EXACT [] synonym: "microcephalia vera" EXACT [] synonym: "microcephaly vera" EXACT [] synonym: "primary hereditary microcephaly" EXACT [] synonym: "true microcephaly" EXACT [] xref: GARD:12117 xref: MESH:C579935 xref: MONDO:0016660 xref: ORDO:2512 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070297 ! primary microcephaly [Term] id: DOID:0070297 name: primary microcephaly def: "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. (DO)" [PMID:28912110 "DO"] xref: MIM:PS251200 is_a: DOID:10907 ! microcephaly [Term] id: DOID:0070298 name: multiple epiphyseal dysplasia 2 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. (DO)" [PMID:8528240 "DO"] synonym: "COL9A2-RELATED CONDITION" BROAD [] synonym: "COL9A2-related disorder" BROAD [] synonym: "EDM2" EXACT [] xref: MESH:C535502 xref: MIM:600204 xref: MONDO:0010844 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070299 name: multiple epiphyseal dysplasia 5 def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)" [PMID:11479597 "DO"] synonym: "BHMED" EXACT [] synonym: "bilateral hereditary microepiphyseal dysplasia" EXACT [] synonym: "EDM5" EXACT [] synonym: "multiple epiphyseal dysplasia, MATN3-related" EXACT [] xref: GARD:9794 xref: MESH:C535505 xref: MIM:607078 xref: MONDO:0011765 xref: ORDO:93311 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070300 name: multiple epiphyseal dysplasia 4 def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)" [PMID:10465113 "DO"] synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [] synonym: "EDM4" EXACT [] synonym: "MED4" EXACT [] synonym: "multiple epiphyseal dysplasia with bilateral patellae" EXACT [] synonym: "multiple epiphyseal dysplasia with bilayered patellae" EXACT [] synonym: "multiple epiphyseal dysplasia with clubfoot" EXACT [] synonym: "multiple epiphyseal dysplasia with double-layered patella" EXACT [] synonym: "polyepiphyseal dysplasia type 4" EXACT [] synonym: "rMED" EXACT [] xref: GARD:9793 xref: MESH:C535504 xref: MIM:226900 xref: MONDO:0009189 xref: ORDO:93307 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070301 name: multiple epiphyseal dysplasia 6 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. (DO)" [PMID:11565064 "DO"] synonym: "COL9A1-RELATED CONDITION" BROAD [] synonym: "COL9A1-RELATED DISORDER" BROAD [] synonym: "EDM6" EXACT [] xref: MIM:614135 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070302 name: multiple epiphyseal dysplasia 7 def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)" [PMID:28742282 "DO"] synonym: "CANT1-related condition" BROAD [] synonym: "EDM7" EXACT [] xref: MIM:617719 xref: MONDO:0054680 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070303 name: multiple epiphyseal dysplasia 1 alt_id: MIM:132400 def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. (DO)" [PMID:7670471 "DO", PMID:7670472 "DO"] synonym: "EDM1" EXACT [] synonym: "EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE" NARROW [] synonym: "epiphyseal dysplasia, Ribbing type" NARROW [] synonym: "MED1" EXACT [] synonym: "multiple epiphyseal dysplasia 1, mild" NARROW [] synonym: "multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related" EXACT [] synonym: "MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE" NARROW [] synonym: "multiple epiphyseal dysplasia, COMP-related" EXACT [] synonym: "MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1" EXACT [] synonym: "polyepiphyseal dysplasia type 1" EXACT [] xref: GARD:2180 xref: MESH:C535501 xref: ORDO:93308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070304 name: multiple epiphyseal dysplasia 3 alt_id: MIM:600969 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)" [PMID:10090888 "DO"] synonym: "EDM3" EXACT [] synonym: "multiple epiphyseal dysplasia 3 with myopathy" NARROW [] synonym: "multiple epiphyseal dysplasia 3 with or without myopathy" EXACT [] xref: MESH:C535503 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070305 name: multiple epiphyseal dysplasia due to collagen 9 anomaly def: "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). (DO)" [PMID:10090888 "DO", PMID:11891674 "DO"] synonym: "COL9A2-related disorder" NARROW [] xref: ORDO:166002 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070306 name: post-cardiac arrest syndrome def: "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. (DO)" [PMID:15365608 "DO", PMID:18963350 "DO", PMID:20395899 "DO", PMID:29055751 "DO"] synonym: "PCAS" EXACT [] synonym: "post cardiac syndrome" EXACT [] synonym: "postresuscitation disease" EXACT [] xref: MESH:D000080942 xref: MONDO:0850092 is_a: DOID:0060319 ! cardiac arrest is_a: DOID:225 ! syndrome [Term] id: DOID:0070307 name: craniolenticulosutural dysplasia def: "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. (DO)" [https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia "DO", PMID:16980979 "DO", PMID:29161034 "DO"] synonym: "Boyadjiev-Jabs syndrome" EXACT [] synonym: "CLSD" EXACT [] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [] synonym: "SEC23A-related condition" BROAD [] xref: MESH:C564332 xref: MIM:607812 xref: MONDO:0011911 xref: ORDO:50814 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0070308 name: rippling muscle disease 1 def: "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/ "DO"] synonym: "RMD1" EXACT [] xref: MESH:C535686 xref: MIM:600332 xref: MONDO:0010868 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:0070309 name: absence epilepsy def: "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC3697883/ "DO", PMID:15800200 "DO"] synonym: "absence epilepsies" EXACT [] synonym: "absence seizure" EXACT [] synonym: "Absence Seizure Disorder" EXACT [] synonym: "Absence Seizure Disorders" EXACT [] synonym: "absence seizures" EXACT [] synonym: "GENERALIZED NON-MOTOR (ABSENCE) SEIZURE" EXACT [] is_a: DOID:0050701 ! electroclinical syndrome [Term] id: DOID:0070310 name: drug-induced hearing loss def: "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. (DO)" [PMID:20301595 "DO", PMID:25629145 "DO", PMID:29471610 "DO"] synonym: "antidepressant-induced hearing impairment" NARROW [] synonym: "ototoxicity" EXACT [] xref: EFO:0006324 xref: EFO:0006951 xref: MESH:D000081015 xref: MONDO:0850094 is_a: DOID:0050563 ! nonsyndromic deafness [Term] id: DOID:0070311 name: oligoasthenoteratozoospermia def: "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. (DO)" [https://en.wiktionary.org/wiki/oligoasthenoteratozoospermia "DO", PMID:23628110 "DO", PMID:25781171 "DO"] synonym: "OAT" EXACT [] synonym: "oligoasthenoteratospermia" EXACT [] synonym: "oligoasthenoteratozoospermias" EXACT [] is_a: DOID:14228 ! oligospermia is_a: DOID:9001513 ! Asthenozoospermia is_a: DOID:9002321 ! Teratozoospermia [Term] id: DOID:0070313 name: thiamine deficiency disease def: "A nutritional deficiency disease that is characterized by low levels of thiamine. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO"] synonym: "thiamine deficiencies" EXACT [] synonym: "thiamine deficiency" EXACT [] xref: EFO:0008569 xref: MESH:D013832 xref: NCI:C34418 is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:0070314 name: obstructive nephropathy def: "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. (DO)" [https://en.wikipedia.org/wiki/Obstructive_uropathy "DO", PMID:24023768 "DO", PMID:25402279 "DO", PMID:26667236 "DO"] synonym: "CON" EXACT [] synonym: "congenital obstructive nephropathy" EXACT [] xref: NCI:C120902 is_a: DOID:557 ! kidney disease [Term] id: DOID:0070315 name: hypoplastic right heart syndrome def: "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. (DO)" [PMID:24932961 "DO", PMID:28009100 "DO"] xref: GARD:2922 xref: ICD10CM:Q22.6 xref: NCI:C99053 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0070316 name: Miura type epiphyseal chondrodysplasia def: "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)" [PMID:24057292 "DO", PMID:24259409 "DO"] synonym: "ECDM" EXACT [] synonym: "Miura type of epiphyseal chondrodysplasia" EXACT [] synonym: "tall stature-scoliosis-macrodactyly of the great toes syndrome" EXACT [] synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [] xref: MIM:615923 xref: ORDO:329191 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080006 ! bone development disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0070317 name: wet beriberi def: "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"] xref: ICD10CM:E51.12 is_a: DOID:13725 ! beriberi [Term] id: DOID:0070318 name: dry beriberi def: "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"] xref: ICD10CM:E51.11 xref: MONDO:0024182 is_a: DOID:13725 ! beriberi [Term] id: DOID:0070319 name: miliaria pustulosa def: "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] is_a: DOID:1382 ! miliaria [Term] id: DOID:0070320 name: miliaria profunda def: "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] xref: ICD10CM:L74.2 xref: SNOMEDCT_US_2020_03_01:47317002 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070321 name: miliaria crystallina def: "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] synonym: "sudamina" EXACT [] xref: ICD10CM:L74.1 xref: MONDO:0024229 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070322 name: childhood hepatocellular carcinoma def: "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. (DO)" [PMID:17714939 "DO", PMID:28144610 "DO", PMID:30254403 "DO"] synonym: "hepatocellular carcinoma, childhood type, somatic" NARROW [] synonym: "pediatric hepatocellular carcinoma" EXACT [] xref: GARD:9331 xref: MONDO:0018055 xref: NCI:C7955 xref: ORDO:33402 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:0070323 name: childhood acute myeloid leukemia def: "A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)" [http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx "DO", https://en.wikipedia.org/wiki/Acute_myeloid_leukemia "DO", https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq "DO"] synonym: "childhood acute myeloid leukaemia" EXACT [] synonym: "childhood acute myeloid leukemia with maturation" NARROW [] synonym: "paediatric acute myeloid leukaemia" EXACT [] synonym: "pediatric acute myeloid leukemia" EXACT [] xref: EFO:0000330 xref: EFO:1001945 xref: ICD-O:M9861/3 xref: MONDO:0004996 xref: NCI:C9160 is_a: DOID:7757 ! childhood leukemia is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0070324 name: systemic Epstein-Barr virus positive T-cell lymphoma of childhood def: "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. (DO)" [https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases "DO", PMID:30931288 "DO"] synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [] synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [] xref: EFO:1000228 xref: ICDO:9724/3 xref: ICD-O:M9724/3 xref: NCI:C80374 xref: ORDO:364033 is_a: DOID:5823 ! childhood lymphoma [Term] id: DOID:0070325 name: malignant childhood adrenal gland pheochromocytoma def: "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. (DO)" [PMID:28324046 "DO", PMID:28752085 "DO"] synonym: "malignant pediatric adrenal gland pheochromocytoma" EXACT [] xref: GARD:9368 xref: ICD-O:M8700/3 xref: MONDO:0044767 xref: NCI:C118822 is_a: DOID:0050892 ! adrenal gland pheochromocytoma [Term] id: DOID:0070326 name: spitzoid melanoma def: "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/ "DO", PMID:25666674 "DO", PMID:25834363 "DO"] synonym: "atypical spitz nevus" EXACT [] xref: NCI:C136825 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:0070327 name: melanoma in congenital melanocytic nevus def: "A skin melanoma that arises from a congenital melanocytic nevus. (DO)" [PMID:27517357 "DO", PMID:28078671 "DO"] synonym: "malignant melanoma in congenital melanocytic nevus" EXACT [] xref: GARD:2469 xref: ICDO:8761/3 xref: MONDO:0850110 xref: NCI:C48613 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:0070328 name: adult hepatocellular carcinoma def: "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. (DO)" [https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq "DO", PMID:25979220 "DO", PMID:28761617 "DO", PMID:30254403 "DO"] synonym: "adult hepatoma" EXACT [] synonym: "adult liver cell carcinoma" EXACT [] synonym: "adult primary hepatocellular carcinoma" EXACT [] synonym: "NCI:C7956" EXACT [] xref: ORDO:210159 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:0070329 name: mitochondrial DNA depletion syndrome def: "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", PMID:28215579 "DO", PMID:29344903 "DO", PMID:29950321 "DO"] synonym: "mitochondrial DNA depletion syndromes" EXACT [] synonym: "mtDNA depletion syndrome" EXACT [] xref: GARD:13643 xref: MIM:PS603041 xref: ORDO:35698 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0070330 name: multiple mitochondrial dysfunctions syndrome def: "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", PMID:24462711 "DO", PMID:28161430 "DO"] synonym: "fatal multiple mitochondrial dysfunctions syndrome" EXACT [] synonym: "fatal multiple mitochondrial dysfunction syndrome" EXACT [] synonym: "MMDS" EXACT [] synonym: "multiple mitochondrial dysfunctions syndromes" EXACT [] xref: GARD:12632 xref: MESH:C565304 xref: MIM:PS605711 xref: ORDO:289573 is_a: DOID:225 ! syndrome is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0070331 name: mitochondrial DNA depletion syndrome 8b def: "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (DO)" [PMID:28215579 "DO", PMID:30373120 "DO"] synonym: "familial visceral myopathy, external ophthalmoplegia" EXACT [] synonym: "familial visceral myopathy, with external ophthalmoplegia" EXACT [] synonym: "intestinal pseudoobstruction with external ophthalmoplegia" EXACT [] synonym: "mitochondrial DNA depletion syndrome 8B (MNGIE type)" NARROW [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related" NARROW [] synonym: "MTDPS8B" NARROW [] synonym: "oculogastrointestinal muscular dystrophy" EXACT [] xref: MESH:C536350 xref: MIM:277320 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11719 ! oculopharyngeal muscular dystrophy is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type is_a: DOID:9002025 ! Familial Visceral Myopathy [Term] id: DOID:0070332 name: multiple mitochondrial dysfunctions syndrome 6 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. (DO)" [PMID:29576218 "DO"] synonym: "MMDS6" EXACT [] synonym: "PMPCB-RELATED CONDITION" EXACT [] synonym: "PMPCB-RELATED MITOCHONDRIAL DISORDER" EXACT [] xref: MIM:617954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0070333 name: breast implant-associated anaplastic large cell lymphoma def: "A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. (DO)" [https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl "DO", PMID:31166611 "DO", PMID:31642879 "DO"] is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0070334 name: vegetable allergy def: "A food allergy triggered by a vegetable food product. (DO)" [https://farrp.unl.edu/informallvegetables "DO"] is_a: DOID:3044 ! food allergy created_by: mtutaj creation_date: 2019-06-25T14:19:37Z [Term] id: DOID:0070335 name: celery allergy def: "A vegetable allergy triggered by celery (Apium graveolens). (DO)" [https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045 "DO"] is_a: DOID:0070334 ! vegetable allergy [Term] id: DOID:0070336 name: arthrogryposis multiplex congenita-6 alt_id: DOID:9004972 def: "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)" [PMID:33376055 "DO"] synonym: "AMC6" EXACT [] synonym: "NEB-RELATED DISORDER" BROAD [] xref: MIM:619334 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: mtutaj creation_date: 2022-08-29T12:47:32Z [Term] id: DOID:0070337 name: epithelial recurrent erosion dystrophy alt_id: MIM:122400 def: "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. (DO)" [MIM:122400 "DO"] synonym: "COL17A1" EXACT [] synonym: "COL17A1-RELATED CONDITION" BROAD [] synonym: "ERED" EXACT [] synonym: "recurring hereditary corneal erosions" EXACT [] xref: MESH:C565155 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0070338 name: cerebellar hypoplasia def: "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)" [https://en.wikipedia.org/wiki/Cerebellar_hypoplasia "DO", https://www.ninds.nih.gov/health-information/disorders/cerebellar-hypoplasia "DO"] synonym: "congenital cerebellar hypoplasia" EXACT [] xref: GARD:1194 xref: MESH:C562568 xref: NCI:C98890 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008086 ! Developmental Disabilities created_by: rgd creation_date: 2016-08-09T00:00:00Z [Term] id: DOID:0070339 name: cerebellar hyplasia/atrophy, epilepsy, and global developmental delay def: "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. (DO)" [PMID:31785787 "DO"] synonym: "OXR1-RELATED CONDITION" EXACT [] xref: MIM:213000 xref: MONDO:0008939 xref: ORDO:2246 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:225 ! syndrome [Term] id: DOID:0070340 name: classic citrullinemia alt_id: MIM:215700 def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. (DO)" [MIM:215700 "DO"] synonym: "argininosuccinate synthase deficiency disease" EXACT [] synonym: "argininosuccinate synthetase deficiencies" EXACT [] synonym: "Argininosuccinate Synthetase Deficiency" EXACT [] synonym: "ASS1-RELATED DISORDER" EXACT [] synonym: "ASS deficiencies" EXACT [] synonym: "ASS Deficiency" EXACT [] synonym: "Citrullinemia 1" EXACT [] synonym: "citrullinemia type 1" EXACT [] synonym: "citrullinemia type I" EXACT [] synonym: "classical citrullinemia" EXACT [] synonym: "classical citrullinemias" EXACT [] synonym: "classic citrullinemias" EXACT [] synonym: "CTLN1" EXACT [] synonym: "CTNL1" EXACT [] xref: MESH:C538444 xref: NCI:C150601 xref: ORDO:247525 is_a: DOID:9273 ! citrullinemia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0070341 name: neonatal-onset type II citrullinemia def: "A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)" [PMID:21424115 "DO"] synonym: "CDNI" EXACT [] synonym: "neonatal citrullinemia" EXACT [] synonym: "neonatal citrullinemias" EXACT [] synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [] synonym: "neonatal-onset citrullinemia type 2" EXACT [] synonym: "neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia" EXACT [] synonym: "neonatal- or infantile-onset citrin deficiency" EXACT [] synonym: "NICCD" EXACT [] synonym: "SLC25A13-related condition" BROAD [] xref: MESH:C536398 xref: MIM:605814 xref: MONDO:0011601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009138 ! Citrullinemia Type 2 [Term] id: DOID:0070342 name: adult-onset type II citrullinemia def: "A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)" [PMID:18620775 "DO"] synonym: "AACD" EXACT [] synonym: "Adult-Onset Citrullinemia Type 2" EXACT [] synonym: "CDAA" EXACT [] synonym: "citrin deficiency, adolescent- or adult-onset" EXACT [] synonym: "CTLN2" EXACT [] synonym: "Late-Onset Citrullinemia" EXACT [] synonym: "SLC25A13-related condition" BROAD [] xref: MESH:C538053 xref: MIM:603471 xref: MONDO:0011326 xref: ORDO:247585 is_a: DOID:9009138 ! Citrullinemia Type 2 [Term] id: DOID:0070343 name: CSF1R-related brain malformation and osteopetrosis alt_id: DOID:9003031 def: "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6506793/ "DO"] synonym: "infantile osteopetrosis and neuronal storage disease" EXACT [] synonym: "osteopetrosis and infantile neuroaxonal dystrophy" EXACT [] synonym: "osteoporosis and infantile neuroaxonal dystrophy" EXACT [] synonym: "prenatal axonal dystrophy and osteopetrosis" EXACT [] xref: MESH:C536055 xref: MIM:600329 xref: MONDO:0010866 is_a: DOID:13533 ! osteopetrosis is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0070344 name: ocular tuberculosis def: "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/ "DO"] synonym: "ocular tuberculoses" EXACT [] xref: EFO:1001070 xref: MESH:D014392 is_a: DOID:399 ! tuberculosis is_a: DOID:9005473 ! Bacterial Eye Infections [Term] id: DOID:0070345 name: vertebral anomalies and variable endocrine and T-cell dysfunction def: "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. (DO)" [PMID:29726930 "DO"] synonym: "heterozygotes for TBX2 variants" EXACT [] synonym: "TBX2-related condition" BROAD [] synonym: "VETD" EXACT [] xref: MIM:618223 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2018-09-11T14:55:29Z [Term] id: DOID:0070346 name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies def: "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. (DO)" [PMID:618571 "DO"] synonym: "INTS1-RELATED CONDITION" EXACT [] synonym: "NDCAGF" EXACT [] xref: EFO:0010561 xref: MIM:618571 is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006257 ! Growth Disorders created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0070347 name: encephalopathy due to defective mitochondrial and peroxisomal fission 1 def: "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. (DO)" [PMID:30850373 "DO"] synonym: "DNM1L-RELATED CONDITION" BROAD [] synonym: "DNM1L-RELATED DISORDERS" BROAD [] synonym: "EMPF" EXACT [] synonym: "EMPF1" EXACT [] synonym: "ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION 1" EXACT [] synonym: "lethal encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [] synonym: "lethal encephalopathy due to defective mitochondrial and peroxisomal fission 1" EXACT [] xref: MIM:614388 is_a: DOID:225 ! syndrome is_a: DOID:9009111 ! Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission [Term] id: DOID:0070348 name: spinal muscular atrophy with lower extremity predominant def: "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance "DO"] synonym: "spinal muscular atrophy with lower extremity predominance" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity" EXACT [] xref: MIM:PS158600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0070349 name: spinal muscular atrophy with lower extremity predominant 2A def: "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)" [PMID:23664120 "DO"] synonym: "BICD2-RELATED CONDITION" BROAD [] synonym: "GOWER'S MUSCULAR DYSTROPHY" EXACT [] synonym: "SMALED2A" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, AD" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, childhood onset, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" BROAD [] synonym: "spinal muscular atrophy with lower extremity predominance 2A" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity 2A" EXACT [] xref: MIM:615290 xref: NCI:C191766 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070350 name: spinal muscular atrophy with lower extremity predominant 2B def: "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)" [PMID:28635954 "DO"] synonym: "BICD2-RELATED CONDITION" BROAD [] synonym: "SMALED2B" EXACT [] synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT" BROAD [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy with lower extremity predominance 2B" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity 2B" EXACT [] xref: EFO:0010264 xref: MIM:618291 xref: MONDO:0032660 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070351 name: spinal muscular atrophy with lower extremity predominant 1 def: "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [PMID:20697106 "DO"] synonym: "Kugelberg-Welander syndrome, autosomal dominant" EXACT [] synonym: "lower extremity-predominant spinal muscular atrophy 1, autosomal dominant" EXACT [] synonym: "proximal juvenile spinal muscular atrophy, autosomal dominant" EXACT [] synonym: "SMA-LED" EXACT [] synonym: "SMALED1" EXACT [] synonym: "Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant" EXACT [] synonym: "spinal muscular atrophy with lower extremity predominance 1" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity 1" EXACT [] xref: MESH:C563560 xref: MIM:158600 xref: MONDO:0008026 xref: NCI:C191765 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070352 name: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures def: "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. (DO)" [MIM:618170 "DO", PMID:30100084 "DO"] synonym: "ADPRHL2-RELATED DISORDER" EXACT [] synonym: "ADPRS-RELATED CONDITION" EXACT [] synonym: "CONDSIAS" EXACT [] synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES" EXACT [] xref: MIM:618170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0070353 name: cataract 47 alt_id: MIM:612018 def: "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)" [MIM:612018 "DO"] synonym: "CJMG" EXACT [] synonym: "CTRCT47" EXACT [] synonym: "juvenile cataract with microcornea" EXACT [] synonym: "juvenile cataract with microcornea and glucosuria" EXACT [] synonym: "SLC16A12-RELATED CONDITION" EXACT [] xref: MESH:C567434 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract is_a: DOID:9432 ! renal glycosuria [Term] id: DOID:0070354 name: cataract 48 alt_id: DOID:9001214 def: "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. (DO)" [MIM:618415 "DO", PMID:30290152 "DO"] synonym: "CTRCT48" EXACT [] synonym: "DNMBP-RELATED CONDITION" EXACT [] xref: MIM:618415 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0070355 name: overactive bladder syndrome alt_id: DOID:9004837 def: "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. (DO)" [PMID:11857671 "DO", PMID:19937315 "DO"] synonym: "OAB" EXACT [] synonym: "Overactive Bladder" EXACT [] synonym: "Overactive Detrusor" EXACT [] synonym: "Overactive Detrusor Function" EXACT [] synonym: "Overactive Urinary Bladder" EXACT [] synonym: "urgency-frequency syndrome" EXACT [] synonym: "urge syndrome" EXACT [] xref: EFO:1000781 xref: ICD10CM:N32.81 xref: ICD9CM:596.51 xref: MESH:D053201 is_a: DOID:225 ! syndrome is_a: DOID:365 ! bladder disease is_a: DOID:9003962 ! Lower Urinary Tract Symptoms created_by: mtutaj creation_date: 2022-11-30T19:03:07Z [Term] id: DOID:0070356 name: visual impairment and progressive phthisis bulbi def: "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. (DO)" [https://en.wikipedia.org/wiki/Phthisis_bulbi "DO", https://www.uniprot.org/diseases/DI-05463 "DO", PMID:29771303 "DO"] synonym: "MARK3-RELATED CONDITION" EXACT [] synonym: "VIPB" EXACT [] xref: MIM:618283 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:0070357 name: nephrotic syndrome type 20 def: "A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. (DO)" [MIM:301028 "DO", PMID:31732614 "DO"] synonym: "NPHS20" EXACT [] synonym: "TBC1D8B-RELATED CONDITION" EXACT [] xref: MIM:301028 xref: MONDO:0026726 is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0070358 name: primary biliary cholangitis 1 alt_id: DOID:9006007 def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. (DO)" [PMID:19458352 "DO"] synonym: "PBC1" EXACT [] synonym: "Primary Biliary Cirrhosis 1" EXACT [] xref: MIM:109720 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:45:25Z [Term] id: DOID:0070359 name: primary biliary cholangitis 2 alt_id: DOID:9001188 alt_id: MIM:613007 def: "A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. (DO)" [PMID:19458352 "DO"] synonym: "PBC2" EXACT [] synonym: "Primary Biliary Cirrhosis 2" EXACT [] xref: MESH:C567817 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:00Z [Term] id: DOID:0070360 name: primary biliary cholangitis 3 alt_id: DOID:9000199 alt_id: MIM:613008 def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. (DO)" [PMID:19458352 "DO"] synonym: "IL12RB2-RELATED CONDITION" EXACT [] synonym: "PBC3" EXACT [] synonym: "Primary Biliary Cirrhosis 3" EXACT [] xref: MESH:C567816 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:12Z [Term] id: DOID:0070361 name: primary biliary cholangitis 4 alt_id: DOID:9007947 def: "A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. (DO)" [PMID:20639879 "DO"] synonym: "PBC4" EXACT [] synonym: "Primary Biliary Cirrhosis 4" EXACT [] xref: MIM:614220 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:24Z [Term] id: DOID:0070362 name: primary biliary cholangitis 5 alt_id: DOID:9006752 def: "A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. (DO)" [PMID:20639879 "DO"] synonym: "PBC5" EXACT [] synonym: "Primary Biliary Cirrhosis 5" EXACT [] xref: MIM:614221 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:36Z [Term] id: DOID:0070363 name: bradyopsia 1 alt_id: DOID:9000878 def: "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. (DO)" [MIM:608415 "DO", PMID:19818506 "DO"] synonym: "PERRS1" EXACT [] synonym: "prolonged electroretinal response suppression 1" EXACT [] synonym: "RGS9-RELATED CONDITION" EXACT [] xref: MIM:608415 is_a: DOID:0050335 ! bradyopsia created_by: mtutaj creation_date: 2023-05-31T12:16:10Z [Term] id: DOID:0070364 name: bradyopsia 2 alt_id: DOID:9003661 def: "A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. (DO)" [MIM:620344 "DO", PMID:19818506 "DO"] synonym: "PERRS2" EXACT [] synonym: "prolonged electroretinal response suppression-2" EXACT [] synonym: "RGS9BP-related condition" BROAD [] xref: MIM:620344 xref: MONDO:0958190 is_a: DOID:0050335 ! bradyopsia created_by: mtutaj creation_date: 2023-05-31T12:18:09Z [Term] id: DOID:0070365 name: nevoid basal cell carcinoma syndrome 1 alt_id: DOID:9005987 def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)" [MIM:109400 "DO", PMID:8658145 "DO"] synonym: "basal cell nevus syndrome 1" EXACT [] synonym: "BCNS1" EXACT [] xref: MIM:109400 xref: MONDO:0958174 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome created_by: mtutaj creation_date: 2023-05-31T12:19:53Z [Term] id: DOID:0070366 name: nevoid basal cell carcinoma syndrome 2 alt_id: DOID:9006702 def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. (DO)" [MIM:620343 "DO", PMID:19533801 "DO"] synonym: "basal cell nevus syndrome 2" EXACT [] synonym: "BCNS2" EXACT [] synonym: "NBCCS2" EXACT [] xref: MIM:620343 is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome created_by: mtutaj creation_date: 2023-05-31T12:24:43Z [Term] id: DOID:0070367 name: leukoencephalopathy with vanishing white matter 5 alt_id: DOID:9005314 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. (DO)" [MIM:620315 "DO", PMID:12325082 "DO", PMID:34745209 "DO"] synonym: "CLE" EXACT [] synonym: "Cree leukoencephalopathy" EXACT [] synonym: "EIF2B5-related condition" BROAD [] synonym: "VWM5" EXACT [] xref: MIM:620315 xref: MONDO:0957873 xref: ORDO:99854 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:28:07Z [Term] id: DOID:0070368 name: autosomal recessive chronic granulomatous disease 5 alt_id: DOID:9004089 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. (DO)" [PMID:30312704 "DO", PMID:30361506 "DO"] synonym: "CGD5" EXACT [] synonym: "chronic granulomatous disease due to CYBC1 deficiency" EXACT [] xref: MIM:618935 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease created_by: mtutaj creation_date: 2023-03-31T15:44:55Z [Term] id: DOID:0070369 name: restrictive dermopathy 1 def: "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (DO)" [PMID:15317753 "DO", PMID:20101687 "DO"] synonym: "lethal restrictive dermopathy 1" EXACT [] synonym: "RSDM1" EXACT [] synonym: "ZMPSTE24-RELATED CONDITION" BROAD [] synonym: "ZMPSTE24-related disorder" BROAD [] xref: MIM:275210 xref: MONDO:0800042 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060762 ! restrictive dermopathy created_by: mtutaj creation_date: 2023-03-31T15:46:56Z [Term] id: DOID:0070370 name: restrictive dermopathy 2 def: "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [PMID:15317753 "DO"] synonym: "lethal restrictive dermopathy 2" EXACT [] synonym: "RSDM2" EXACT [] xref: MIM:619793 is_a: DOID:0060762 ! restrictive dermopathy created_by: mtutaj creation_date: 2023-03-31T15:47:09Z [Term] id: DOID:0070371 name: leukoencephalopathy with vanishing white matter 4 alt_id: DOID:9000160 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. (DO)" [MIM:620314 "DO", PMID:34745209 "DO"] synonym: "EIF2B4-RELATED CONDITION" EXACT [] synonym: "leukoencephalopathy with vanishing white matter 4, with or without ovarian failure" EXACT [] synonym: "VWM4" EXACT [] xref: MIM:620314 xref: MONDO:0957872 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:31:42Z [Term] id: DOID:0070372 name: leukoencephalopathy with vanishing white matter 3 alt_id: DOID:9008859 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. (DO)" [MIM:620313 "DO", PMID:34745209 "DO"] synonym: "EIF2B3-RELATED CONDITION" EXACT [] synonym: "VWM3" EXACT [] xref: MIM:620313 xref: MONDO:0957871 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:33:34Z [Term] id: DOID:0070373 name: leukoencephalopathy with vanishing white matter 2 alt_id: DOID:9002009 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. (DO)" [MIM:620312 "DO", PMID:34745209 "DO"] synonym: "VWM2" EXACT [] xref: MIM:620312 xref: MONDO:0957870 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:36:14Z [Term] id: DOID:0070374 name: leukoencephalopathy with vanishing white matter 1 alt_id: DOID:9005348 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. (DO)" [MIM:603896 "DO", PMID:34745209 "DO"] synonym: "EIF2B1-RELATED CONDITION" EXACT [] synonym: "VWM1" EXACT [] xref: MIM:603896 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:38:06Z [Term] id: DOID:0070375 name: developmental and epileptic encephalopathy 64 alt_id: DOID:9009181 def: "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. (DO)" [PMID:29276004 "DO", PMID:29768694 "DO", PMID:33504645 "DO", PMID:37090824 "DO"] synonym: "DEE64" EXACT [] synonym: "early infantile epileptic encephalopathy 64" EXACT [] synonym: "EIEE64" EXACT [] synonym: "RHOBTB2-RELATED CONDITION" EXACT [] xref: MIM:618004 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T12:40:27Z [Term] id: DOID:0070376 name: developmental and epileptic encephalopathy 31B def: "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. (DO)" [PMID:34172529 "DO"] synonym: "DEE31B" EXACT [] synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [] xref: MIM:620352 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T12:55:23Z [Term] id: DOID:0070377 name: developmental and epileptic encephalopathy 96 alt_id: DOID:9000688 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. (DO)" [PMID:31675180 "DO"] synonym: "DEE96" EXACT [] xref: MIM:619340 xref: MONDO:0023659 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:07:24Z [Term] id: DOID:0070378 name: developmental and epileptic encephalopathy 109 alt_id: DOID:9006979 def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. (DO)" [PMID:34788397 "DO"] synonym: "DEE109" EXACT [] synonym: "FZR1-RELATED CONDITION" EXACT [] xref: MIM:620145 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:12:10Z [Term] id: DOID:0070379 name: developmental and epileptic encephalopathy 6B alt_id: DOID:9008265 def: "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)" [PMID:28794249 "DO"] synonym: "DEE6B" EXACT [] synonym: "developmental and epileptic encephalopathy 6B, non-Dravet" EXACT [] xref: MIM:619317 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:13:59Z [Term] id: DOID:0070380 name: developmental and epileptic encephalopathy 85 alt_id: DOID:9008619 def: "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (DO)" [PMID:28166369 "DO", PMID:31334757 "DO"] synonym: "DEE85" EXACT [] synonym: "developmental and epileptic encephalopathy-85 with or without midline brain defects" EXACT [] synonym: "early infantile epileptic encephalopathy 85" EXACT [] synonym: "early infantile epileptic encephalopathy 85, with or without midline brain defects" EXACT [] synonym: "EIEE85" EXACT [] synonym: "SMC1A-RELATED COHESINOPATHY" BROAD [] xref: MIM:301044 xref: NCI:C202548 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:15:46Z [Term] id: DOID:0070381 name: developmental and epileptic encephalopathy 90 alt_id: DOID:9000663 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. (DO)" [PMID:33245860 "DO"] synonym: "DEE90" EXACT [] synonym: "FGF13-RELATED CONDITION" BROAD [] xref: MIM:301058 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:17:21Z [Term] id: DOID:0070382 name: developmental and epileptic encephalopathy 95 alt_id: DOID:9004284 def: "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. (DO)" [PMID:30269814 "DO"] synonym: "DEE95" EXACT [] synonym: "early infantile epileptic encephalopathy 95" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT [] synonym: "GPIBD18" EXACT [] synonym: "GPI biosynthesis defect-18" EXACT [] synonym: "PIGS-RELATED CONDITION" EXACT [] xref: MIM:618143 xref: MONDO:0029140 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-05-31T13:19:37Z [Term] id: DOID:0070383 name: developmental and epileptic encephalopathy 97 alt_id: DOID:9000553 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. (DO)" [PMID:33131106 "DO"] synonym: "CELF2-related condition" BROAD [] synonym: "DEE97" EXACT [] synonym: "early infantile epileptic encephalopathy 97" EXACT [] xref: MIM:619561 xref: MONDO:0030453 xref: NCI:C206520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:21:41Z [Term] id: DOID:0070384 name: developmental and epileptic encephalopathy 98 alt_id: DOID:9001342 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (DO)" [PMID:33880529 "DO"] synonym: "DEE98" EXACT [] synonym: "early infantile epileptic encephalopathy 98" EXACT [] xref: MIM:619605 xref: NCI:C217085 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:23:31Z [Term] id: DOID:0070385 name: developmental and epileptic encephalopathy 99 alt_id: DOID:9001126 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (DO)" [PMID:33880529 "DO"] synonym: "DEE99" EXACT [] synonym: "early infantile epileptic encephalopathy 99" EXACT [] xref: MIM:619606 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:27:09Z [Term] id: DOID:0070386 name: developmental and epileptic encephalopathy 100 alt_id: DOID:9003577 def: "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. (DO)" [PMID:33280099 "DO"] synonym: "DEE100" EXACT [] synonym: "early infantile epileptic encephalopathy 100" EXACT [] xref: MIM:619777 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:31:06Z [Term] id: DOID:0070387 name: developmental and epileptic encephalopathy 101 alt_id: DOID:9003569 def: "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (DO)" [PMID:34611970 "DO"] synonym: "DEE101" EXACT [] synonym: "early infantile epileptic encephalopathy 101" EXACT [] xref: MIM:619814 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:34:10Z [Term] id: DOID:0070388 name: developmental and epileptic encephalopathy 102 alt_id: DOID:9004423 def: "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. (DO)" [PMID:34605855 "DO"] synonym: "DEE102" EXACT [] synonym: "early infantile epileptic encephalopathy 102" EXACT [] xref: MIM:619881 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:44:27Z [Term] id: DOID:0070389 name: developmental and epileptic encephalopathy 103 alt_id: DOID:9005278 def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. (DO)" [PMID:35314505 "DO"] synonym: "DEE103" EXACT [] synonym: "early infantile epileptic encephalopathy 103" EXACT [] synonym: "KCNC2-related condition" BROAD [] synonym: "KCNC2-RELATED DISORDER" EXACT [] xref: MIM:619913 xref: MONDO:0030957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:46:18Z [Term] id: DOID:0070390 name: developmental and epileptic encephalopathy 104 alt_id: DOID:9001426 def: "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. (DO)" [PMID:34909687 "DO"] synonym: "DEE104" EXACT [] synonym: "early infantile epileptic encephalopathy 104" EXACT [] xref: MIM:619970 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:47:54Z [Term] id: DOID:0070391 name: developmental and epileptic encephalopathy 105 alt_id: DOID:9002700 def: "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. (DO)" [PMID:33999436 "DO"] synonym: "DEE105" EXACT [] synonym: "Developmental and Epileptic Encephalopathy 105 with Hypopituitarism" EXACT [] synonym: "early infantile epileptic encephalopathy 105" EXACT [] xref: MIM:619983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9406 ! hypopituitarism created_by: mtutaj creation_date: 2023-05-31T13:49:30Z [Term] id: DOID:0070392 name: developmental and epileptic encephalopathy 106 alt_id: DOID:9003512 def: "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. (DO)" [PMID:33473208 "DO"] synonym: "DEE106" EXACT [] synonym: "early infantile epileptic encephalopathy 106" EXACT [] xref: MIM:620028 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:51:23Z [Term] id: DOID:0070393 name: developmental and epileptic encephalopathy 107 alt_id: DOID:9004803 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. (DO)" [PMID:26235277 "DO", PMID:28097321 "DO", PMID:33189936 "DO"] synonym: "DEE107" EXACT [] synonym: "early infantile epileptic encephalopathy 107" EXACT [] synonym: "NAPB-RELATED CONDITION" EXACT [] xref: MIM:620033 xref: NCI:C190869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:52:52Z [Term] id: DOID:0070394 name: developmental and epileptic encephalopathy 108 alt_id: DOID:9006521 def: "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. (DO)" [PMID:34185323 "DO", PMID:35095415 "DO"] synonym: "DEE108" EXACT [] synonym: "early infantile epileptic encephalopathy 108" EXACT [] xref: MIM:620115 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:55:17Z [Term] id: DOID:0070395 name: developmental and epileptic encephalopathy 110 alt_id: DOID:9005910 def: "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. (DO)" [PMID:35293990 "DO"] synonym: "CACNA2D1-RELATED CONDITION" EXACT [] synonym: "DEE110" EXACT [] synonym: "early infantile epileptic encephalopathy 110" EXACT [] xref: MIM:620149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:57:03Z [Term] id: DOID:0070396 name: progressive leukoencephalopathy with ovarian failure alt_id: DOID:9006658 def: "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. (DO)" [PMID:24808023 "DO"] synonym: "AARS2-related condition" BROAD [] synonym: "LKENP" EXACT [] synonym: "ovarioleukodystrophy" RELATED [] xref: MIM:615889 xref: MONDO:0014387 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:1100 ! ovarian disease is_a: DOID:9002704 ! Leukoencephalopathies created_by: mtutaj creation_date: 2023-06-29T20:38:22Z [Term] id: DOID:0070397 name: hypomyelinating leukodystrophy 23 alt_id: DOID:9000978 def: "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. (DO)" [PMID:33964137 "DO"] synonym: "HLD23" EXACT [] synonym: "Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy" EXACT [] xref: MIM:619688 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T13:59:24Z [Term] id: DOID:0070398 name: hypomyelinating leukodystrophy 15 alt_id: DOID:9009193 def: "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. (DO)" [PMID:29576217 "DO"] synonym: "EPRS1-RELATED CONDITION" EXACT [] synonym: "HLD15" EXACT [] xref: MIM:617951 xref: MONDO:0054782 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:01:16Z [Term] id: DOID:0070399 name: hypomyelinating leukodystrophy 18 alt_id: DOID:9000521 def: "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (DO)" [PMID:30620337 "DO"] synonym: "DEGS1-RELATED CONDITION" EXACT [] synonym: "HLD18" EXACT [] xref: MIM:618404 xref: NCI:C215053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:02:47Z [Term] id: DOID:0070400 name: hypomyelinating leukodystrophy 19 alt_id: DOID:9006466 def: "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. (DO)" [PMID:31587869 "DO", PMID:33785861 "DO"] synonym: "HLD19" EXACT [] synonym: "hypomyelinating leukodystrophy 19, transient infantile" EXACT [] synonym: "TMEM63A-RELATED CONDITION" EXACT [] xref: MIM:618688 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:04:36Z [Term] id: DOID:0070401 name: hypomyelinating leukodystrophy 25 alt_id: DOID:9001632 def: "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. (DO)" [PMID:35455965 "DO", PMID:35953447 "DO"] synonym: "HLD25" EXACT [] xref: MIM:620243 xref: MONDO:0859378 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:06:16Z [Term] id: DOID:0070402 name: hypomyelinating leukodystrophy 22 alt_id: DOID:9000735 def: "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. (DO)" [PMID:33313762 "DO"] synonym: "HLD22" EXACT [] xref: MIM:619328 xref: NCI:C201587 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:07:46Z [Term] id: DOID:0070403 name: hypomyelinating leukodystrophy 26 alt_id: DOID:9008469 def: "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. (DO)" [PMID:35325049 "DO"] synonym: "Chondrodysplasia with hypomyelinating leukodystrophy" EXACT [] synonym: "HLD26" EXACT [] synonym: "Hypomyelinating leukodystrophy 26 with chondrodysplasia" EXACT [] xref: MIM:620269 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2023-05-31T14:09:05Z [Term] id: DOID:0070404 name: hypomyelinating leukodystrophy 17 alt_id: DOID:9009183 def: "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (DO)" [PMID:29215095 "DO", PMID:35140751 "DO"] synonym: "AIMP2-related condition" BROAD [] synonym: "HLD17" EXACT [] xref: MIM:618006 xref: MONDO:0054817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:10:43Z [Term] id: DOID:0070405 name: hypomyelinating leukodystrophy 16 alt_id: DOID:9009170 def: "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. (DO)" [PMID:29186371 "DO"] synonym: "HLD16" EXACT [] synonym: "TMEM106B-RELATED CONDITION" EXACT [] xref: MIM:617964 xref: MONDO:0054791 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:14:29Z [Term] id: DOID:0070406 name: hypomyelinating leukodystrophy 24 alt_id: DOID:9001753 def: "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. (DO)" [PMID:34403372 "DO"] synonym: "HLD24" EXACT [] xref: MIM:619851 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:17:31Z [Term] id: DOID:0070407 name: hypomyelinating leukodystrophy 21 alt_id: DOID:9004862 def: "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. (DO)" [PMID:30584594 "DO"] synonym: "HLD21" EXACT [] xref: MIM:619310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:19:26Z [Term] id: DOID:0070408 name: Hengel-Maroofian-Schols syndrome alt_id: DOID:9005952 def: "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. (DO)" [PMID:34022130 "DO"] synonym: "HEMARS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES" EXACT [] xref: MIM:619641 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2023-05-31T14:21:28Z [Term] id: DOID:0070409 name: autosomal recessive spinocerebellar ataxia 28 alt_id: DOID:9000809 def: "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. (DO)" [PMID:31168944 "DO"] synonym: "SCAR28" EXACT [] synonym: "THG1L-RELATED DISORDER" EXACT [] xref: MIM:618800 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:24:43Z [Term] id: DOID:0070410 name: autosomal recessive spinocerebellar ataxia 29 alt_id: DOID:9008984 def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. (DO)" [PMID:33764426 "DO"] synonym: "Barakat-van Ham-Kaya syndrome" EXACT [] synonym: "BAVAHAKA" EXACT [] synonym: "NEDHCA" EXACT [] synonym: "neurodevelopmental disorder with hypotonia and cerebellar ataxia" EXACT [] synonym: "SCAR29" EXACT [] xref: MIM:619389 xref: MONDO:0030312 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:26:54Z [Term] id: DOID:0070411 name: autosomal recessive spinocerebellar ataxia 30 alt_id: DOID:9006343 def: "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. (DO)" [PMID:29764912 "DO"] synonym: "PITRM1-RELATED CONDITION" EXACT [] synonym: "SCAR30" EXACT [] xref: MIM:619405 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:28:57Z [Term] id: DOID:0070412 name: autosomal recessive spinocerebellar ataxia 31 alt_id: DOID:9009088 def: "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. (DO)" [PMID:34161705 "DO"] synonym: "ATG7-RELATED CONDITION" EXACT [] synonym: "SCAR31" EXACT [] xref: MIM:619422 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:30:35Z [Term] id: DOID:0070413 name: autosomal recessive spinocerebellar ataxia 32 alt_id: DOID:9003435 def: "An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. (DO)" [PMID:33889951 "DO"] synonym: "SCAR32" EXACT [] xref: MIM:619862 xref: MONDO:0859245 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:33:04Z [Term] id: DOID:0070414 name: autosomal recessive spinocerebellar ataxia 33 alt_id: DOID:9006060 def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. (DO)" [PMID:27863452 "DO"] synonym: "SCAR33" EXACT [] xref: MIM:620208 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:35:25Z [Term] id: DOID:0070415 name: brachycephaly, trichomegaly, and developmental delay alt_id: DOID:9003486 def: "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. (DO)" [PMID:28257692 "DO"] synonym: "BTDD" EXACT [] synonym: "Macinnes syndrome" EXACT [] synonym: "MCINS" EXACT [] xref: MIM:617412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:421 ! hair disease is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-05-31T14:36:57Z [Term] id: DOID:0070416 name: Luo-Schoch-Yamamoto syndrome alt_id: DOID:9000444 def: "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. (DO)" [PMID:33864376 "DO"] synonym: "LUSYAM" EXACT [] synonym: "RNF2-ASSOCIATED NEURODEVELOPMENTAL CONDITION" EXACT [] xref: MIM:619460 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-05-31T14:41:01Z [Term] id: DOID:0070417 name: neurodevelopmental disorder with speech impairment and dysmorphic facies alt_id: DOID:9001194 def: "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. (DO)" [PMID:32346159 "DO"] synonym: "NEDSID" EXACT [] synonym: "SETD1A-RELATED CONDITION" BROAD [] xref: MIM:619056 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:92 ! speech disorder created_by: mtutaj creation_date: 2023-05-31T14:44:25Z [Term] id: DOID:0070418 name: vertebral hypersegmentation and orofacial anomalies alt_id: DOID:9004229 def: "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. (DO)" [PMID:31215115 "DO"] synonym: "VHO" EXACT [] xref: MIM:619122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060564 ! spinal disease is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2023-05-31T14:48:16Z [Term] id: DOID:0070419 name: acrocardiofacial syndrome alt_id: DOID:9001696 def: "A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. (DO)" [PMID:20920258 "DO"] synonym: "ACFS" EXACT [] synonym: "CCGE" EXACT [] synonym: "cleft palate, cardiac defect, genital anomalies, and ectrodactyly" EXACT [] synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [] xref: GARD:1167 xref: MESH:C563936 xref: MIM:600460 xref: MONDO:0010890 xref: ORDO:2008 is_a: DOID:1682 ! congenital heart disease is_a: DOID:674 ! cleft palate is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2023-05-31T14:52:59Z [Term] id: DOID:0070420 name: developmental delay, hypotonia, and impaired language alt_id: DOID:9000135 def: "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. (DO)" [PMID:35395208 "DO"] synonym: "DEDHIL" EXACT [] synonym: "FBXW7-RELATED CONDITION" EXACT [] xref: MIM:620012 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-05-31T16:45:31Z [Term] id: DOID:0070421 name: neurodevelopmental disorder with spasticity and poor growth alt_id: DOID:9009223 def: "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. (DO)" [PMID:29868776 "DO"] synonym: "NEDSG" EXACT [] synonym: "UFC1-RELATED CONDITION" EXACT [] xref: MIM:618076 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: mtutaj creation_date: 2023-05-31T16:49:36Z [Term] id: DOID:0070422 name: syndromic X-linked intellectual disability Pilorge type alt_id: DOID:9001972 def: "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. (DO)" [PMID:35294868 "DO"] synonym: "MRXSP" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Pilorge type" EXACT [] xref: MIM:301076 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2023-05-31T16:54:32Z [Term] id: DOID:0070423 name: early onset progressive encephalopathy with brain atrophy and thin corpus callosum alt_id: DOID:9000707 def: "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. (DO)" [PMID:27666370 "DO", PMID:27666374 "DO", PMID:36527993 "DO"] synonym: "PEBAT" EXACT [] synonym: "TBCD-related condition" EXACT [] xref: MIM:617193 xref: MONDO:0044646 xref: NCI:C202602 xref: ORDO:496641 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9004462 ! Atrophy is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2023-05-31T16:57:10Z [Term] id: DOID:0070424 name: combined oxidative phosphorylation deficiency 44 alt_id: DOID:9002715 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. (DO)" [PMID:31944455 "DO", PMID:36531759 "DO"] synonym: "COXPD44" EXACT [] synonym: "FASTKD2-RELATED CONDITION" EXACT [] xref: MIM:618855 xref: ORDO:166105 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:43:32Z [Term] id: DOID:0070425 name: combined oxidative phosphorylation deficiency 52 alt_id: DOID:9005483 def: "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)" [PMID:24498631 "DO", PMID:33457206 "DO"] synonym: "COXPD52" EXACT [] synonym: "NFS1-RELATED CONDITION" EXACT [] xref: MIM:619386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:45:20Z [Term] id: DOID:0070426 name: combined oxidative phosphorylation deficiency 53 alt_id: DOID:9005629 def: "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. (DO)" [PMID:33945503 "DO", PMID:34038740 "DO"] synonym: "COXPD53" EXACT [] synonym: "Elbracht-Isikay syndrome" EXACT [] synonym: "global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation" EXACT [] xref: MIM:619423 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:47:04Z [Term] id: DOID:0070427 name: combined oxidative phosphorylation deficiency 54 alt_id: DOID:9006756 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. (DO)" [PMID:34715011 "DO"] synonym: "COXPD54" EXACT [] synonym: "PRORP-RELATED CONDITION" EXACT [] xref: MIM:619737 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:49:06Z [Term] id: DOID:0070428 name: combined oxidative phosphorylation deficiency 55 alt_id: DOID:9001375 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. (DO)" [PMID:33602924 "DO"] synonym: "COXPD55" EXACT [] synonym: "POLRMT-RELATED CONDITION" EXACT [] xref: MIM:619743 xref: MONDO:0859228 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:50:24Z [Term] id: DOID:0070429 name: combined oxidative phosphorylation deficiency 56 alt_id: DOID:9009069 def: "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. (DO)" [PMID:35321494 "DO"] synonym: "COXPD56" EXACT [] synonym: "TAMM41-RELATED CONDITION" EXACT [] xref: MIM:620139 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:51:57Z [Term] id: DOID:0070430 name: combined oxidative phosphorylation deficiency 57 alt_id: DOID:9001293 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. (DO)" [PMID:35147173 "DO"] synonym: "COXPD57" EXACT [] xref: MIM:620167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:53:27Z [Term] id: DOID:0070431 name: hyperphosphatasia with impaired intellectual development syndrome alt_id: DOID:9005046 def: "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. (DO)" [https://medlineplus.gov/genetics/condition/mabry-syndrome/ "DO", PMID:26219719 "DO"] synonym: "HPMRS" EXACT [] synonym: "hyperphosphatasia-intellectual disability syndrome" EXACT [] synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [] synonym: "hyperphosphatasia with mental retardation" EXACT [] synonym: "hyperphosphatasia with mental retardation syndrome" EXACT [] synonym: "Mabry disease" EXACT [] synonym: "Mabry syndrome" EXACT [] xref: MESH:C565495 xref: MIM:PS239300 xref: ORDO:247262 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:2485 ! phosphorus metabolism disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2023-06-29T20:55:08Z [Term] id: DOID:0070432 name: hyperphosphatasia with impaired intellectual development syndrome 5 alt_id: DOID:9007551 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. (DO)" [PMID:27626616 "DO"] synonym: "glycosylphosphatidylinositol biosynthesis defect 11" EXACT [] synonym: "GPIBD11" EXACT [] synonym: "HPMRS5" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 5" EXACT [] xref: MIM:616025 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-06-29T21:01:16Z [Term] id: DOID:0070433 name: hyperphosphatasia with impaired intellectual development syndrome 1 alt_id: DOID:9002100 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (DO)" [PMID:20802478 "DO", PMID:29310717 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2" EXACT [] synonym: "GPIBD2" EXACT [] synonym: "HPMRS1" EXACT [] synonym: "HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 1" EXACT [] synonym: "Mabry syndrome" EXACT [] synonym: "PIGV-related condition" BROAD [] xref: MIM:239300 xref: MONDO:0009398 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-06-29T21:06:04Z [Term] id: DOID:0070434 name: hyperphosphatasia with impaired intellectual development syndrome 2 alt_id: DOID:9003727 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. (DO)" [PMID:22683086 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6" EXACT [] synonym: "GPIBD6" EXACT [] synonym: "HPMRS2" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 2" EXACT [] xref: MIM:614749 xref: MONDO:0013882 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome created_by: mtutaj creation_date: 2023-06-29T21:07:30Z [Term] id: DOID:0070435 name: hyperphosphatasia with impaired intellectual development syndrome 3 alt_id: DOID:9000867 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. (DO)" [PMID:23561846 "DO", PMID:23561847 "DO", PMID:36833286 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8" EXACT [] synonym: "GPIBD8" EXACT [] synonym: "HPMRS3" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 3" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21" EXACT [] synonym: "MRT17" EXACT [] synonym: "MRT21" EXACT [] xref: MIM:614207 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome created_by: mtutaj creation_date: 2023-06-29T21:08:45Z [Term] id: DOID:0070436 name: hyperphosphatasia with impaired intellectual development syndrome 4 alt_id: DOID:9007958 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. (DO)" [PMID:24439110 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 62" EXACT [] synonym: "GPIBD10" EXACT [] synonym: "GPIBD62" EXACT [] synonym: "HPMRS4" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 4" EXACT [] synonym: "PGAP3-RELATED CONDITION" EXACT [] xref: MIM:615716 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-06-29T21:10:01Z [Term] id: DOID:0070437 name: hyperphosphatasia with impaired intellectual development syndrome 6 alt_id: DOID:9001811 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. (DO)" [PMID:26293662 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 40" EXACT [] synonym: "GPIBD12" EXACT [] synonym: "GPIBD40" EXACT [] synonym: "HPMRS6" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 6" EXACT [] xref: MIM:616809 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome created_by: mtutaj creation_date: 2023-06-29T21:11:09Z [Term] id: DOID:0070438 name: retinal macular dystrophy def: "A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. (DO)" [PMID:27496188 "DO", PMID:35331648 "DO", PMID:36243009 "DO"] synonym: "MCDR" EXACT [] xref: MIM:PS136550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4448 ! macular degeneration created_by: mtutaj creation_date: 2023-06-29T21:12:26Z [Term] id: DOID:0070439 name: North Carolina macular dystrophy alt_id: DOID:9001226 alt_id: MIM:136550 def: "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. (DO)" [PMID:36243009 "DO"] synonym: "CAPED" EXACT [] synonym: "central areolar pigment epithelial dystrophy" EXACT [] synonym: "central retinal pigment epithelial dystrophy" EXACT [] synonym: "MCDR1" EXACT [] synonym: "NCMD" EXACT [] synonym: "progressive foveal dystrophy" EXACT [] synonym: "retinal macular dystrophy 1" EXACT [] synonym: "Retinal Macular Dystrophy 1, North Carolina Type" EXACT [] xref: GARD:9179 xref: MESH:C537835 xref: NCI:C168999 xref: ORDO:75327 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2023-06-29T21:15:45Z [Term] id: DOID:0070440 name: retinal macular dystrophy 3 alt_id: DOID:9004386 def: "A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. (DO)" [PMID:27496188 "DO"] synonym: "MCDR3" EXACT [] xref: MIM:608850 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2023-06-29T21:18:01Z [Term] id: DOID:0070441 name: retinal macular dystrophy 4 alt_id: DOID:9005553 def: "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. (DO)" [PMID:35331648 "DO"] synonym: "MCDR4" EXACT [] xref: MIM:619977 xref: MONDO:0859568 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2023-06-29T21:20:32Z [Term] id: DOID:0070442 name: paroxysmal nonkinesigenic dyskinesia 3 alt_id: DOID:9002672 def: "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. (DO)" [PMID:15937479 "DO", PMID:26195193 "DO"] synonym: "generalized epilepsy and paroxysmal dyskinesia" EXACT [] synonym: "generalized epilepsy with paroxysmal dyskinesia" EXACT [] synonym: "GEPD" EXACT [] synonym: "paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy" EXACT [] synonym: "PNKD3" EXACT [] xref: MESH:C563719 xref: MIM:609446 xref: MONDO:0012276 xref: ORDO:79137 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12859 ! choreatic disease is_a: DOID:1827 ! generalized epilepsy is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2023-06-29T21:22:47Z [Term] id: DOID:0070443 name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction alt_id: DOID:9000830 def: "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (DO)" [PMID:33963192 "DO", PMID:34569062 "DO"] synonym: "GEMIN5-related condition" BROAD [] synonym: "GEMIN5-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "NEDCAM" EXACT [] xref: MIM:619333 xref: MONDO:0859152 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9277 ! primary cerebellar degeneration created_by: mtutaj creation_date: 2023-06-29T21:25:43Z [Term] id: DOID:0070444 name: neurodevelopmental disorder with language delay and seizures alt_id: DOID:9003411 def: "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. (DO)" [PMID:35240055 "DO"] synonym: "NEDLDS" EXACT [] synonym: "TIAM1-RELATED CONDITION" EXACT [] xref: MIM:619908 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2023-06-29T21:29:05Z [Term] id: DOID:0070445 name: early-onset dystonia and/or spastic paraplegia alt_id: DOID:9000491 def: "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. (DO)" [PMID:34636445 "DO"] synonym: "ATP5G3-ASSOCIATED DISORDER" EXACT [] synonym: "DYTSPG" EXACT [] xref: MIM:619681 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2023-06-29T21:31:43Z [Term] id: DOID:0070446 name: mitochondrial DNA depletion syndrome 16 alt_id: DOID:9008345 def: "A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)" [PMID:27592148 "DO", PMID:30157269 "DO"] synonym: "mitochondrial DNA depletion syndrome 16 (hepatic type)" EXACT [] synonym: "MTDPS16" EXACT [] xref: MIM:618528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:34:46Z [Term] id: DOID:0070447 name: mitochondrial DNA depletion syndrome 16B alt_id: DOID:9002169 def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. (DO)" [PMID:31778857 "DO"] synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)" EXACT [] synonym: "MTDPS16B" EXACT [] xref: MIM:619425 xref: MONDO:0030326 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:12859 ! choreatic disease is_a: DOID:1389 ! polyneuropathy is_a: DOID:5723 ! optic atrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias created_by: mtutaj creation_date: 2023-06-29T21:36:36Z [Term] id: DOID:0070448 name: mitochondrial DNA depletion syndrome 17 alt_id: DOID:9005661 def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. (DO)" [PMID:28973171 "DO"] synonym: "MRM2-RELATED CONDITION" EXACT [] synonym: "MTDPS17" EXACT [] xref: MIM:618567 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:38:16Z [Term] id: DOID:0070449 name: mitochondrial DNA depletion syndrome 18 alt_id: DOID:9006116 def: "A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. (DO)" [PMID:29517768 "DO"] synonym: "MTDPS18" EXACT [] synonym: "SLC25A21-RELATED CONDITION" EXACT [] xref: MIM:618811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:39:36Z [Term] id: DOID:0070450 name: mitochondrial DNA depletion syndrome 19 alt_id: DOID:9006004 def: "A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. (DO)" [PMID:29211846 "DO"] synonym: "MTDPS19" EXACT [] synonym: "SLC25A10-RELATED CONDITION" EXACT [] xref: MIM:618972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:40:52Z [Term] id: DOID:0070451 name: mitochondrial DNA depletion syndrome 20 alt_id: DOID:9001068 def: "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. (DO)" [PMID:33855352 "DO"] synonym: "LIG3-RELATED CONDITION" EXACT [] synonym: "mitochondrial DNA depletion syndrome 20 (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related" EXACT [] synonym: "MTDPS20" EXACT [] xref: MIM:619780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type created_by: mtutaj creation_date: 2023-06-29T21:42:02Z [Term] id: DOID:0070452 name: xanthinuria type I alt_id: DOID:9008241 def: "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. (DO)" [PMID:9153281 "DO"] synonym: "HEREDITARY XANTHINURIA TYPE 1" EXACT [] synonym: "XAN1" EXACT [] synonym: "XDH-related condition" BROAD [] xref: GARD:5621 xref: MESH:C562584 xref: MIM:278300 xref: MONDO:0010209 xref: ORDO:93601 is_a: DOID:0060236 ! xanthinuria created_by: mtutaj creation_date: 2023-07-21T09:24:27Z [Term] id: DOID:0070453 name: xanthinuria type II alt_id: DOID:9004466 alt_id: MIM:603592 def: "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. (DO)" [PMID:11302742 "DO", PMID:23203137 "DO"] synonym: "combined deficiency of xanthine dehydrogenase and aldehyde oxidase" EXACT [] synonym: "MOCOS-RELATED CONDITION" EXACT [] synonym: "XAN2" EXACT [] synonym: "xanthinuria type 2" EXACT [] xref: GARD:5620 xref: MESH:C566358 xref: ORDO:93602 is_a: DOID:0060236 ! xanthinuria created_by: mtutaj creation_date: 2023-07-21T09:24:46Z [Term] id: DOID:0070454 name: hereditary spastic paraplegia 70 alt_id: DOID:9000026 def: "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. (DO)" [PMID:34585293 "DO"] synonym: "autosomal recessive spastic paraplegia 70" EXACT [] synonym: "SPG70" EXACT [] xref: MIM:620323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:27:30Z [Term] id: DOID:0070455 name: hereditary spastic paraplegia 79A def: "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)" [PMID:35986737 "DO"] synonym: "autosomal dominant spastic paraplegia 79A" EXACT [] synonym: "autosomal dominant spastic paraplegia 79A, with ataxia" EXACT [] synonym: "SPG79A" EXACT [] xref: MIM:620221 xref: MONDO:0859363 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:30:23Z [Term] id: DOID:0070456 name: hereditary spastic paraplegia 87 alt_id: DOID:9003756 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. (DO)" [PMID:35718349 "DO"] synonym: "autosomal recessive spastic paraplegia 87" EXACT [] synonym: "SPG87" EXACT [] xref: MIM:619966 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:35:34Z [Term] id: DOID:0070457 name: hereditary spastic paraplegia 88 alt_id: DOID:9008849 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. (DO)" [PMID:34564892 "DO", PMID:34825409 "DO", PMID:34981581 "DO"] synonym: "autosomal dominant spastic paraplegia 88" EXACT [] synonym: "SPG88" EXACT [] xref: MIM:620106 xref: MONDO:0859309 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:37:18Z [Term] id: DOID:0070458 name: hereditary spastic paraplegia 89 alt_id: DOID:9002632 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. (DO)" [PMID:37119330 "DO"] synonym: "autosomal recessive spastic paraplegia 89" EXACT [] synonym: "SPG89" EXACT [] xref: MIM:620379 xref: MONDO:0957274 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:38:37Z [Term] id: DOID:0070459 name: hereditary spastic paraplegia 90A def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)" [PMID:36718090 "DO"] synonym: "autosomal dominant spastic paraplegia 90A" EXACT [] synonym: "SPG90A" EXACT [] synonym: "SPTSSA-RELATED CONDITION" BROAD [] xref: MIM:620416 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:39:58Z [Term] id: DOID:0070460 name: hereditary spastic paraplegia 90B def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)" [PMID:36718090 "DO"] synonym: "spastic paraplegia 90B, autosomal recessive" EXACT [] synonym: "SPG90B" EXACT [] synonym: "SPTSSA-RELATED CONDITION" BROAD [] xref: MIM:620417 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:42:08Z [Term] id: DOID:0070461 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4A def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:34483339 "DO", PMID:34954817 "DO"] synonym: "MC5DN4A" EXACT [] xref: MIM:620358 xref: MONDO:0957254 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4 created_by: mtutaj creation_date: 2023-07-21T09:43:13Z [Term] id: DOID:0070462 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. (DO)" [PMID:23599390 "DO"] synonym: "MC5DN4B" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type" EXACT [] xref: MIM:615228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4 created_by: mtutaj creation_date: 2023-07-21T09:44:25Z [Term] id: DOID:0070463 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 5 alt_id: DOID:9005595 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. (DO)" [PMID:29478781 "DO"] synonym: "ATP5F1D-RELATED CONDITION" EXACT [] synonym: "MC5DN5" EXACT [] synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE" EXACT [] xref: MIM:618120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: mtutaj creation_date: 2023-07-21T09:48:06Z [Term] id: DOID:0070464 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 7 alt_id: DOID:9002101 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. (DO)" [PMID:34954817 "DO", PMID:35621276 "DO"] synonym: "MC5DN7" EXACT [] xref: MIM:620359 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: mtutaj creation_date: 2023-07-21T09:49:46Z [Term] id: DOID:0070465 name: autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 alt_id: DOID:9008083 def: "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. (DO)" [PMID:29718187 "DO"] synonym: "COA7-RELATED CONDITION" EXACT [] synonym: "SCAN3" EXACT [] synonym: "spinocerebellar ataxia with axonal neuropathy 3" EXACT [] synonym: "spinocerebellar ataxia with axonal neuropathy type 3" EXACT [] xref: EFO:0010249 xref: MIM:618387 is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy created_by: mtutaj creation_date: 2023-07-21T09:51:08Z [Term] id: DOID:0070466 name: carpal tunnel syndrome 1 alt_id: DOID:9007824 def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. (DO)" [PMID:8309582 "DO"] synonym: "CTS1" EXACT [] xref: MIM:115430 xref: MONDO:0020730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12169 ! carpal tunnel syndrome created_by: mtutaj creation_date: 2023-07-21T09:52:01Z [Term] id: DOID:0070467 name: carpal tunnel syndrome 2 alt_id: DOID:9003916 def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. (DO)" [PMID:32686688 "DO"] synonym: "CTS2" EXACT [] xref: MIM:619161 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12169 ! carpal tunnel syndrome created_by: mtutaj creation_date: 2023-07-21T09:53:19Z [Term] id: DOID:0070468 name: Yoon-Bellen neurodevelopmental syndrome alt_id: DOID:9004385 def: "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. (DO)" [PMID:28017472 "DO", PMID:34800363 "DO"] synonym: "OGDHL-related condition" BROAD [] synonym: "YOBELN" EXACT [] xref: MIM:619701 xref: MONDO:0859221 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9008582 ! Developmental Disease created_by: mtutaj creation_date: 2023-09-29T10:07:08Z [Term] id: DOID:0070469 name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum alt_id: DOID:9000340 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. (DO)" [PMID:31924697 "DO", PMID:36255738 "DO"] synonym: "NEDDFAC" EXACT [] synonym: "SUPT16H-RELATED CONDITION" EXACT [] xref: MIM:619480 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: mtutaj creation_date: 2023-09-29T10:09:25Z [Term] id: DOID:0070470 name: chromosome 1p36.33 duplication syndrome alt_id: DOID:9002611 def: "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. (DO)" [PMID:32004445 "DO", PMID:33575671 "DO"] synonym: "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster" EXACT [] synonym: "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster, autosomal dominant" EXACT [] xref: MIM:618815 xref: ORDO:656279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: mtutaj creation_date: 2023-11-30T14:11:12Z [Term] id: DOID:0070471 name: early-onset epilepsy 2 alt_id: DOID:9001558 def: "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. (DO)" [PMID:31197650 "DO"] synonym: "early-onset epilepsy-2 with or without developmental delay" EXACT [] synonym: "EPEDD" EXACT [] synonym: "EPEO2" EXACT [] synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT [] synonym: "SETD1A-RELATED CONDITION" BROAD [] xref: EFO:0010739 xref: MIM:618832 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9009338 ! early-onset epilepsy created_by: mtutaj creation_date: 2023-09-29T10:12:06Z [Term] id: DOID:0070472 name: early-onset epilepsy 3 alt_id: DOID:9006144 def: "An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. (DO)" [PMID:36074901 "DO", PMID:37161035 "DO"] synonym: "early-onset epilepsy 3 with or without developmental delay" EXACT [] synonym: "EPEO3" EXACT [] synonym: "EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY" NARROW [] xref: MIM:620465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009338 ! early-onset epilepsy created_by: mtutaj creation_date: 2023-09-29T10:15:39Z [Term] id: DOID:0070473 name: Zaki syndrome alt_id: DOID:9001208 def: "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. (DO)" [PMID:34587386 "DO", PMID:37005218 "DO"] synonym: "MICROCEPHALY, PROGRESSIVE, WITH DEVELOPMENTAL DELAY, CUPPED EARS, AND DYSMORPHIC FEATURES" EXACT [] synonym: "WLS-RELATED CONDITION" EXACT [] synonym: "WLS SYNDROME" EXACT [] synonym: "ZKS" EXACT [] xref: MIM:619648 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-11-30T14:13:47Z [Term] id: DOID:0070474 name: childhood-onset neurodegeneration with brain atrophy alt_id: DOID:9008006 def: "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. (DO)" [PMID:28777933 "DO"] synonym: "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" EXACT [] synonym: "CONDBA" EXACT [] synonym: "INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY" EXACT [] synonym: "UBTF E210K NEUROREGRESSION SYNDROME" EXACT [] synonym: "UBTF-RELATED CONDITION" EXACT [] synonym: "UBTF-RELATED DISORDER" EXACT [] xref: GARD:13658 xref: MIM:617672 xref: ORDO:500180 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9004462 ! Atrophy created_by: mtutaj creation_date: 2023-11-30T14:16:01Z [Term] id: DOID:0070475 name: SMARCB1-deficient renal medullary carcinoma alt_id: DOID:9005067 def: "A renal cell carcinoma that develops in the renal medulla. (DO)" [PMID:28697319 "DO", PMID:35853783 "DO", PMID:36645398 "DO"] synonym: "kidney medullary carcinoma" EXACT [] synonym: "medullary adenocarcinoma" EXACT [] synonym: "medullary carcinoma of the kidney" EXACT [] synonym: "medullary renal cell carcinoma" EXACT [] synonym: "renal medullary carcinoma" EXACT [] synonym: "RMC" EXACT [] xref: EFO:1000314 xref: GARD:13175 xref: MONDO:0100534 xref: NCI:C7572 xref: ORDO:319319 is_a: DOID:4450 ! renal cell carcinoma created_by: mtutaj creation_date: 2023-10-23T09:50:28Z [Term] id: DOID:0070476 name: diphthamide deficiency syndrome def: "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (DO)" [PMID:32576952 "DO", PMID:35482014 "DO"] synonym: "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" EXACT [] synonym: "DEDSSH" EXACT [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" EXACT [] synonym: "EEF2-RELATED CONDITION" BROAD [] xref: MIM:PS616901 xref: ORDO:459061 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2023-10-23T09:55:11Z [Term] id: DOID:0070477 name: diphthamide deficiency syndrome 1 alt_id: DOID:9005766 def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. (DO)" [PMID:30877278 "DO"] synonym: "DEDSSH1" EXACT [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" EXACT [] synonym: "developmental delay with short stature, dysmorphic features, and sparse hair" EXACT [] synonym: "DPH1-RELATED CONDITION" EXACT [] synonym: "DPH1 syndrome" EXACT [] synonym: "Loucks-Innes syndrome" EXACT [] xref: MIM:616901 is_a: DOID:0070476 ! diphthamide deficiency syndrome is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2023-10-23T09:59:17Z [Term] id: DOID:0070478 name: diphthamide deficiency syndrome 2 alt_id: DOID:9007201 def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. (DO)" [PMID:32576952 "DO"] synonym: "DEDSSH2" EXACT [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" EXACT [] xref: MIM:620062 is_a: DOID:0070476 ! diphthamide deficiency syndrome is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2023-10-23T09:59:35Z [Term] id: DOID:0070479 name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties alt_id: DOID:9008919 def: "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. (DO)" [PMID:35482014 "DO"] synonym: "DPH5-RELATED DIPHTHAMIDE-DEFICIENCY SYNDROME" EXACT [] synonym: "NEDSFF" EXACT [] xref: MIM:620070 xref: MONDO:0859295 is_a: DOID:0070476 ! diphthamide deficiency syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-10-23T10:16:43Z [Term] id: DOID:0070480 name: schwannomatosis 1 def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)" [PMID:19582488 "DO", PMID:35674741 "DO"] synonym: "SCHWANNOMATOSIS 1, SOMATIC" NARROW [] synonym: "SMARCB1-related schwannomatosis" EXACT [] synonym: "SWN1" EXACT [] synonym: "SWNTS1" EXACT [] xref: MIM:162091 xref: NCI:C186703 is_a: DOID:3204 ! schwannomatosis created_by: mtutaj creation_date: 2023-10-23T10:21:53Z [Term] id: DOID:0070481 name: schwannomatosis 2 def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. (DO)" [PMID:24362817 "DO", PMID:35674741 "DO"] synonym: "LZTR1-RELATED DISORDER" BROAD [] synonym: "LZTR1-related schwannomatosis" EXACT [] synonym: "Schwannomatosis-2, susceptibility to" RELATED [] synonym: "SWN2" EXACT [] xref: MIM:615670 xref: NCI:C186704 is_a: DOID:3204 ! schwannomatosis created_by: mtutaj creation_date: 2023-10-23T10:22:08Z [Term] id: DOID:0070482 name: spinal neurofibromatosis alt_id: DOID:9005235 alt_id: MIM:162210 def: "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. (DO)" [PMID:25211147 "DO", PMID:34012067 "DO"] synonym: "familial spinal neurofibromatosis" EXACT [] synonym: "FNSF" EXACT [] synonym: "FSNF" EXACT [] synonym: "SNF" EXACT [] synonym: "SPINAL NEUROFIBROMAS" EXACT [] xref: MESH:C563523 is_a: DOID:0111253 ! neurofibromatosis 1 created_by: mtutaj creation_date: 2023-10-23T10:28:35Z [Term] id: DOID:0070483 name: Watson syndrome alt_id: DOID:9002380 def: "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. (DO)" [PMID:1770531 "DO", PMID:6025371 "DO"] synonym: "cafe-au-lait macules with pulmonary stenosis" EXACT [] synonym: "cafe-au-lait spots with pulmonic stenosis" EXACT [] synonym: "WTSN" EXACT [] xref: MIM:193520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9002453 ! Cafe-au-Lait Spots is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2023-10-23T10:32:19Z [Term] id: DOID:0070484 name: Legius syndrome alt_id: DOID:9007799 alt_id: MIM:611431 def: "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. (DO)" [PMID:34012067 "DO"] synonym: "LGSS" EXACT [] synonym: "neurofibromatosis type 1-like syndrome" EXACT [] synonym: "NF1-like syndrome" EXACT [] synonym: "NFLS" EXACT [] synonym: "SPRED1-RELATED DISORDER" EXACT [] xref: GARD:10714 xref: MESH:C548032 xref: NCI:C176941 xref: ORDO:137605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:9002453 ! Cafe-au-Lait Spots created_by: mtutaj creation_date: 2023-10-23T10:39:25Z [Term] id: DOID:0070485 name: mitochondrial complex IV deficiency nuclear type 23 alt_id: DOID:9004597 def: "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. (DO)" [PMID:36030551 "DO"] synonym: "MC4DN23" EXACT [] xref: MIM:620275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease created_by: mtutaj creation_date: 2023-11-30T14:18:44Z [Term] id: DOID:0070486 name: Parkinson's disease 25 alt_id: DOID:9008253 def: "An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. (DO)" [PMID:36073231 "DO", PMID:37046398 "DO"] synonym: "autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development" EXACT [] synonym: "PARK25" EXACT [] xref: MIM:620482 xref: MONDO:0957576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2023-11-30T14:20:59Z [Term] id: DOID:0070487 name: dopamine transporter deficiency syndrome alt_id: DOID:9005014 def: "A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO", PMID:37443770 "DO"] synonym: "DTDS" EXACT [] synonym: "Parkinsonism-Dystonia, Infantile" EXACT [] synonym: "PKDYS" EXACT [] xref: MESH:C567730 xref: MIM:PS613135 xref: NCI:C129866 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:14330 ! Parkinson's disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2023-11-30T14:23:37Z [Term] id: DOID:0070488 name: atypical dopamine transporter deficiency syndrome def: "A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO", PMID:37443770 "DO"] synonym: "atypical DTDS" EXACT [] xref: MONDO:0700200 is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2023-11-30T14:28:07Z [Term] id: DOID:0070489 name: classic dopamine transporter deficiency syndrome alt_id: DOID:9005659 def: "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO", PMID:37443770 "DO"] synonym: "classic DTDS" EXACT [] synonym: "infantile parkinsonism-dystonia 1" EXACT [] synonym: "PKDYS1" EXACT [] synonym: "SLC6A3-RELATED CONDITION" BROAD [] xref: GARD:10484 xref: MIM:613135 xref: MONDO:0054835 xref: ORDO:238455 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2023-11-30T14:30:00Z [Term] id: DOID:0070490 name: infantile parkinsonism-dystonia 2 alt_id: DOID:9009198 def: "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. (DO)" [PMID:23363473 "DO"] synonym: "ABNORMAL DENSE GRANULES" RELATED [] synonym: "brain dopamine-serotonin vesicular transport disease" EXACT [] synonym: "brain monoamine vesicular transport disease" EXACT [] synonym: "PKDYS2" EXACT [] synonym: "SLC18A2-RELATED CONDITION" EXACT [] xref: GARD:13594 xref: MIM:618049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2023-11-30T14:33:20Z [Term] id: DOID:0070491 name: mitochondrial complex IV deficiency nuclear type 1 alt_id: DOID:9007344 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. (DO)" [PMID:10746561 "DO"] synonym: "MC4DN1" EXACT [] xref: MIM:220110 xref: MONDO:0700250 xref: NCI:C176895 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:35:34Z [Term] id: DOID:0070492 name: mitochondrial complex IV deficiency nuclear type 3 alt_id: DOID:9005748 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. (DO)" [PMID:10767350 "DO", PMID:12928484 "DO"] synonym: "MC4DN3" EXACT [] xref: MIM:619046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:37:53Z [Term] id: DOID:0070493 name: mitochondrial complex IV deficiency nuclear type 4 alt_id: DOID:9000822 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. (DO)" [PMID:11013136 "DO", PMID:19295170 "DO"] synonym: "MC4DN4" EXACT [] synonym: "SCO1-RELATED CONDITION" EXACT [] xref: MIM:619048 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:41:45Z [Term] id: DOID:0070494 name: mitochondrial complex IV deficiency nuclear type 7 alt_id: DOID:9003553 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. (DO)" [PMID:18499082 "DO", PMID:24781756 "DO"] synonym: "MC4DN7" EXACT [] xref: MIM:619051 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:43:38Z [Term] id: DOID:0070495 name: mitochondrial complex IV deficiency nuclear type 8 alt_id: DOID:9007489 def: "A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. (DO)" [PMID:20727754 "DO"] synonym: "MC4DN8" EXACT [] synonym: "TACO1-related condition" EXACT [] xref: MIM:619052 xref: MONDO:0033638 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:47:56Z [Term] id: DOID:0070496 name: mitochondrial complex IV deficiency nuclear type 10 alt_id: DOID:9006390 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. (DO)" [PMID:22243966 "DO"] synonym: "MC4DN10" EXACT [] xref: MIM:619053 xref: MONDO:0033639 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:49:52Z [Term] id: DOID:0070497 name: mitochondrial complex IV deficiency nuclear type 11 alt_id: DOID:9000374 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. (DO)" [PMID:24202787 "DO", PMID:33751098 "DO"] synonym: "COX20-RELATED CONDITION" EXACT [] synonym: "MC4DN11" EXACT [] xref: MIM:619054 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:51:30Z [Term] id: DOID:0070498 name: mitochondrial complex IV deficiency nuclear type 12 alt_id: DOID:9006173 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. (DO)" [PMID:24462369 "DO"] synonym: "MC4DN12" EXACT [] synonym: "PET100-RELATED CONDITION" EXACT [] xref: MIM:619055 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:52:57Z [Term] id: DOID:0070499 name: mitochondrial complex IV deficiency nuclear type 14 alt_id: DOID:9008434 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. (DO)" [PMID:25604084 "DO"] synonym: "COA3-RELATED CONDITION" EXACT [] synonym: "MC4DN14" EXACT [] xref: MIM:619058 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:54:48Z [Term] id: DOID:0070500 name: mitochondrial complex IV deficiency nuclear type 15 alt_id: DOID:9001092 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. (DO)" [PMID:26685157 "DO"] synonym: "COX8A-RELATED CONDITION" EXACT [] synonym: "MC4DN15" EXACT [] synonym: "MCDN15" EXACT [] xref: MIM:619059 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:56:07Z [Term] id: DOID:0070501 name: mitochondrial complex IV deficiency nuclear type 16 alt_id: DOID:9001257 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. (DO)" [PMID:31290619 "DO"] synonym: "COX4I1-RELATED CONDITION" EXACT [] synonym: "MC4DN16" EXACT [] xref: MIM:619060 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:57:32Z [Term] id: DOID:0070502 name: mitochondrial complex IV deficiency nuclear type 17 alt_id: DOID:9001849 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. (DO)" [PMID:25175347 "DO"] synonym: "COA8-RELATED CONDITION" EXACT [] synonym: "MC4DN17" EXACT [] xref: MIM:619061 xref: MONDO:0033652 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:58:54Z [Term] id: DOID:0070503 name: mitochondrial complex IV deficiency nuclear type 18 alt_id: DOID:9005386 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. (DO)" [PMID:31155743 "DO"] synonym: "COX6A2-RELATED CONDITION" EXACT [] synonym: "MC4DN18" EXACT [] xref: MIM:619062 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:04:43Z [Term] id: DOID:0070504 name: mitochondrial complex IV deficiency nuclear type 19 alt_id: DOID:9006233 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. (DO)" [PMID:28386624 "DO"] synonym: "MC4DN19" EXACT [] xref: MIM:619063 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:06:32Z [Term] id: DOID:0070505 name: mitochondrial complex IV deficiency nuclear type 20 alt_id: DOID:9004621 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. (DO)" [PMID:28247525 "DO"] synonym: "COX5A-RELATED CONDITION" EXACT [] synonym: "MC4DN20" EXACT [] xref: MIM:619064 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:08:11Z [Term] id: DOID:0070506 name: mitochondrial complex IV deficiency nuclear type 21 alt_id: DOID:9004227 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. (DO)" [PMID:23746447 "DO"] synonym: "MC4DN21" EXACT [] synonym: "NDUFA4-RELATED CONDITION" EXACT [] xref: MIM:619065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:12:03Z [Term] id: DOID:0070507 name: mitochondrial complex IV deficiency nuclear type 22 alt_id: DOID:9008899 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. (DO)" [PMID:33169484 "DO"] synonym: "MC4DN22" EXACT [] xref: MIM:619355 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:15:11Z [Term] id: DOID:0070508 name: metabolic dysfunction and alcohol associated liver disease alt_id: DOID:9006944 def: "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. (DO)" [PMID:37364816 "DO"] synonym: "Alcoholic Fatty Liver" EXACT [] synonym: "alcoholic steatohepatitis" EXACT [] synonym: "metabolic dysfunction and alcohol related liver disease" EXACT [] synonym: "MetALD" EXACT [] xref: MESH:D005235 xref: MONDO:0957896 is_a: DOID:0070658 ! alcohol-associated liver disease is_a: DOID:9452 ! steatotic liver disease created_by: mtutaj creation_date: 2023-11-30T15:18:29Z [Term] id: DOID:0070509 name: Schinzel-Giedion syndrome alt_id: DOID:9001389 def: "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (DO)" [https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/ "DO", PMID:20436468 "DO"] synonym: "Schinzel-Giedion midface-retraction syndrome" EXACT [] synonym: "SETBP1-related condition" BROAD [] synonym: "SETBP1-related disorder" BROAD [] synonym: "SGS" EXACT [] xref: GARD:117 xref: MESH:C536632 xref: MIM:269150 xref: MONDO:0010010 xref: NCI:C129308 xref: ORDO:798 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2023-12-20T20:37:16Z [Term] id: DOID:0070510 name: inflammatory poikiloderma with hair abnormalities and acral keratoses alt_id: DOID:9001883 def: "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. (DO)" [PMID:34999892 "DO"] synonym: "IPHAK" EXACT [] synonym: "LIPHAK" EXACT [] synonym: "LIPHAK syndrome" EXACT [] xref: MIM:620199 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:421 ! hair disease is_a: DOID:9001946 ! Skin Abnormalities created_by: mtutaj creation_date: 2023-12-20T20:41:28Z [Term] id: DOID:0070511 name: polyhydramnios, megalencephaly, and symptomatic epilepsy alt_id: DOID:9006920 alt_id: MIM:611087 def: "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. (DO)" [PMID:17522105 "DO", PMID:33605605 "DO"] synonym: "PMSE" EXACT [] synonym: "PMSE SYNDROME" EXACT [] synonym: "Pretzel syndrome" EXACT [] xref: GARD:12913 xref: MESH:C567020 xref: ORDO:500533 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:8488 ! polyhydramnios is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2023-12-20T20:43:43Z [Term] id: DOID:0070512 name: neurodevelopmental disorder with hypotonia and speech delay alt_id: DOID:9001612 def: "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. (DO)" [PMID:36528028 "DO"] synonym: "INTELLECTUAL DISABILITY WITH MUSCULAR SPASMS" NARROW [] synonym: "NEDHSS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES" EXACT [] xref: MIM:620455 xref: MONDO:0957541 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-12-20T20:46:43Z [Term] id: DOID:0070513 name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. (DO)" [PMID:37071997 "DO"] synonym: "NEDFBA" EXACT [] xref: MIM:620489 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-12-20T20:49:28Z [Term] id: DOID:0070514 name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies alt_id: DOID:9009097 def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. (DO)" [PMID:28942966 "DO", PMID:33522091 "DO"] synonym: "BPTF-RELATED CONDITION" BROAD [] synonym: "NEDDFL" EXACT [] xref: MIM:617755 xref: MONDO:0060596 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-12-20T20:53:30Z [Term] id: DOID:0070515 name: chromosome 16p11.2 deletion syndrome, 593-kb alt_id: DOID:9006640 def: "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK11167/ "DO", PMID:19914906 "DO"] synonym: "16p11.2 deletion syndrome" EXACT [] synonym: "autism, susceptibility to, 14A" RELATED [] synonym: "AUTS14A" RELATED [] synonym: "Proximal 16p11.2 microdeletion syndrome" EXACT [] xref: GARD:10740 xref: MESH:C579850 xref: MIM:611913 xref: MONDO:0012756 xref: ORDO:261197 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder created_by: mtutaj creation_date: 2023-12-20T20:56:18Z [Term] id: DOID:0070516 name: Mitchell syndrome alt_id: DOID:9002088 def: "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)" [PMID:32169171 "DO", PMID:37400800 "DO"] synonym: "ACOX1-RELATED CONDITION" BROAD [] synonym: "ACOX1-RELATED DISORDER" BROAD [] synonym: "MITCH" EXACT [] xref: MIM:618960 xref: ORDO:631248 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5214 ! demyelinating polyneuropathy is_a: DOID:9004538 ! Hearing Loss is_a: DOID:906 ! peroxisomal disease created_by: mtutaj creation_date: 2023-12-20T20:59:58Z [Term] id: DOID:0070517 name: retinal macular dystrophy 2 alt_id: DOID:9002240 alt_id: MIM:608051 def: "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. (DO)" [PMID:12657606 "DO", PMID:20393116 "DO"] synonym: "MCDR2" EXACT [] synonym: "retinal macular dystrophy type 2" EXACT [] xref: MESH:C562746 xref: ORDO:319640 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2024-01-31T10:41:35Z [Term] id: DOID:0070518 name: familial multiple lipomatosis alt_id: DOID:9000797 def: "A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:12516905 "DO", PMID:32021365 "DO"] synonym: "Adiposis Dolorosa Type III" EXACT [] synonym: "Dercum's Disease Type III" EXACT [] synonym: "Familial Multiple Lipoma" EXACT [] synonym: "Familial Multiple Lipomas" EXACT [] synonym: "Familial Multiple Lipomatoses" EXACT [] synonym: "FML" EXACT [] synonym: "LIPO" EXACT [] synonym: "Lipoma Dolorosa" EXACT [] synonym: "multiple lipomatosis" EXACT [] xref: GARD:12925 xref: MESH:D000071070 xref: MIM:151900 xref: MONDO:0007909 xref: ORDO:199276 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3153 ! lipomatosis is_a: DOID:3315 ! lipoma created_by: mtutaj creation_date: 2024-01-31T10:45:19Z [Term] id: DOID:0070519 name: early-onset vitamin B6-dependent epilepsy 4 def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1486/ "DO", PMID:29053735 "DO", PMID:30043187 "DO"] synonym: "AASA dehydrogenase deficiency" EXACT [] synonym: "antiquitin deficiency" EXACT [] synonym: "EPEO4" EXACT [] synonym: "EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT" EXACT [] synonym: "PDE-ALDH7A1" EXACT [] xref: MIM:266100 xref: NCI:C210888 is_a: DOID:0080768 ! pyridoxine-dependent epilepsy created_by: mtutaj creation_date: 2024-01-31T10:48:06Z [Term] id: DOID:0070520 name: peeling skin syndrome 1 alt_id: DOID:9002384 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. (DO)" [PMID:20691404 "DO", PMID:28584761 "DO"] synonym: "CDSN-RELATED CONDITION" BROAD [] synonym: "generalized inflammatory peeling skin syndrome" EXACT [] synonym: "inflammatory peeling skin syndrome" EXACT [] synonym: "peeling skin syndrome type B" EXACT [] synonym: "PSS1" EXACT [] xref: MIM:270300 xref: ORDO:263553 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:52:51Z [Term] id: DOID:0070521 name: peeling skin syndrome 2 alt_id: DOID:9002697 def: "A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. (DO)" [https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/ "DO", PMID:16380904 "DO", PMID:22036214 "DO"] synonym: "acral peeling skin syndrome" EXACT [] synonym: "APSS" EXACT [] synonym: "localized peeling skin syndrome" BROAD [] synonym: "peeling skin syndrome, acral type" EXACT [] synonym: "PSS2" EXACT [] xref: GARD:12863 xref: MESH:C536316 xref: MIM:609796 xref: MONDO:0012345 xref: ORDO:263534 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:54:49Z [Term] id: DOID:0070522 name: peeling skin syndrome 3 alt_id: DOID:9008071 def: "A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. (DO)" [PMID:22289416 "DO", PMID:28204496 "DO"] synonym: "peeling skin syndrome type A" BROAD [] synonym: "PSS3" EXACT [] xref: MIM:616265 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:56:03Z [Term] id: DOID:0070523 name: peeling skin syndrome 4 alt_id: DOID:9007796 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. (DO)" [PMID:21944047 "DO", PMID:23534700 "DO"] synonym: "AREI" BROAD [] synonym: "autosomal recessive exfoliative ichthyosis" BROAD [] synonym: "exfoliative ichthyosis" BROAD [] synonym: "exfoliative ichthyosis, autosomal recessive, IBS-like" EXACT [] synonym: "exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like" EXACT [] synonym: "ichthyosis bullosa of Siemens-like" EXACT [] synonym: "PSS4" EXACT [] xref: MESH:C564309 xref: MIM:607936 xref: MONDO:0011937 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:57:42Z [Term] id: DOID:0070524 name: peeling skin syndrome 5 alt_id: DOID:9005907 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. (DO)" [PMID:27476651 "DO"] synonym: "PSS5" EXACT [] synonym: "SERPINB8-RELATED CONDITION" EXACT [] xref: MIM:617115 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T11:00:34Z [Term] id: DOID:0070525 name: peeling skin syndrome 6 alt_id: DOID:9009226 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. (DO)" [PMID:29505760 "DO", PMID:29758285 "DO"] synonym: "peeling skin syndrome type A" BROAD [] synonym: "PSS6" EXACT [] xref: MIM:618084 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T11:01:55Z [Term] id: DOID:0070526 name: PLACK syndrome alt_id: DOID:9005287 def: "An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. (DO)" [PMID:25683118 "DO"] synonym: "CAST-RELATED CONDITION" EXACT [] synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" EXACT [] synonym: "PLACK" EXACT [] xref: MIM:616295 xref: ORDO:444138 is_a: DOID:0060283 ! peeling skin syndrome is_a: DOID:161 ! keratosis is_a: DOID:1762 ! cheilitis is_a: DOID:9008749 ! Leukonychia Totalis created_by: mtutaj creation_date: 2024-01-31T11:04:08Z [Term] id: DOID:0070527 name: Borrelia miyamotoi disease def: "A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. (DO)" [PMID:36113496 "DO", PMID:36839539 "DO"] synonym: "BMD" EXACT [] synonym: "hard tick-borne relapsing fever" EXACT [] is_a: DOID:13034 ! relapsing fever is_a: DOID:9004477 ! Borrelia Infections created_by: mtutaj creation_date: 2024-01-31T11:09:34Z [Term] id: DOID:0070528 name: cepacia syndrome def: "An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. (DO)" [https://www.cdc.gov/hai/organisms/bcepacia.html "DO", PMID:15463897 "DO", PMID:33214785 "DO", PMID:36815622 "DO"] xref: MONDO:0958151 is_a: DOID:0050340 ! opportunistic bacterial infectious disease is_a: DOID:9000739 ! Burkholderia Infections created_by: mtutaj creation_date: 2024-01-31T11:15:04Z [Term] id: DOID:0070529 name: Sifrim-Hitz-Weiss syndrome alt_id: DOID:9008154 def: "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK561516/ "DO", PMID:27479907 "DO", PMID:27616479 "DO"] synonym: "CHD4 neurodevelopmental disorder" EXACT [] synonym: "CHD4-related disorder" BROAD [] synonym: "CHD4-related neurodevelopmental disorder" EXACT [] synonym: "CHD4-related neurodevelopmental syndrome" EXACT [] synonym: "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT [] synonym: "SIHIWES" EXACT [] xref: MIM:617159 xref: MONDO:0014946 xref: NCI:C201595 xref: ORDO:653712 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2024-01-31T11:16:29Z [Term] id: DOID:0070530 name: foveal hypoplasia 1 alt_id: DOID:9003088 def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome "DO", https://eyewiki.org/Foveal_Hypoplasia "DO", PMID:12721955 "DO", PMID:24290379 "DO", PMID:7065945 "DO"] synonym: "FOVEAL HYPOPLASIA 1 WITH CATARACT" NARROW [] synonym: "FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES" EXACT [] synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" EXACT [] synonym: "FOVEAL HYPOPLASIA AND CATARACT" NARROW [] synonym: "Foveal Hypoplasia and Presenile Cataract Syndrome" EXACT [] synonym: "Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" EXACT [] synonym: "foveal hypoplasia, presenile cataract" EXACT [] synonym: "foveal hypoplasia-presenile cataract syndrome" NARROW [] synonym: "foveal hypoplasia with or without anterior segment anomalies" EXACT [] synonym: "FVH1" EXACT [] synonym: "O'Donnell-Pappas syndrome" EXACT [] xref: MESH:C537858 xref: MIM:136520 xref: MONDO:0007628 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:5679 ! retinal disease is_a: DOID:83 ! cataract is_a: DOID:9001923 ! Foveal Hypoplasia created_by: mtutaj creation_date: 2024-01-31T11:19:30Z [Term] id: DOID:0070531 name: foveal hypoplasia 2 alt_id: DOID:9005271 alt_id: MIM:609218 def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. (DO)" [PMID:24045842 "DO", PMID:24290379 "DO", PMID:33498813 "DO"] synonym: "FHONDA" EXACT [] synonym: "FHONDA syndrome" NARROW [] synonym: "FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS" EXACT [] synonym: "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM" NARROW [] synonym: "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS" NARROW [] synonym: "FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS" EXACT [] synonym: "Foveal Hypoplasia and Anterior Segment Dysgenesis" EXACT [] synonym: "FOVEAL HYPOPLASIA AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS" EXACT [] synonym: "foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis" NARROW [] synonym: "FVH2" EXACT [] synonym: "SLC38A8-RELATED CONDITION" EXACT [] xref: MESH:C563774 xref: ORDO:397618 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9001923 ! Foveal Hypoplasia is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2024-01-31T11:24:31Z [Term] id: DOID:0070532 name: aniridia 1 alt_id: DOID:9002455 def: "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. (DO)" [https://eyewiki.org/Aniridia "DO", PMID:12721955 "DO"] synonym: "AN1" EXACT [] synonym: "AN2, formerly" RELATED [] synonym: "aniridia 2, formerly" RELATED [] synonym: "aniridia II, formerly" RELATED [] synonym: "aniridia type 2, formerly" RELATED [] synonym: "CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY" EXACT [] xref: MESH:C536372 xref: MIM:106210 xref: MONDO:0024507 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12271 ! aniridia is_a: DOID:2566 ! corneal dystrophy is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2024-01-31T11:27:45Z [Term] id: DOID:0070533 name: long QT syndrome 16 alt_id: DOID:9007211 def: "A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. (DO)" [PMID:25460178 "DO", PMID:31454269 "DO"] synonym: "CALM3-RELATED CONDITION" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia 6" NARROW [] synonym: "CPVT6" NARROW [] synonym: "LQT16" EXACT [] xref: MIM:618782 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:2843 ! long QT syndrome created_by: mtutaj creation_date: 2024-02-28T16:22:18Z [Term] id: DOID:0070534 name: arrhythmogenic left ventricular cardiomyopathy def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. (DO)" [PMID:31637441 "DO"] synonym: "ALVC" EXACT [] synonym: "left-dominant arrhythmogenic cardiomyopathy" EXACT [] synonym: "left ventricular ACM" EXACT [] xref: ORDO:293888 is_a: DOID:0060036 ! intrinsic cardiomyopathy created_by: mtutaj creation_date: 2024-02-28T16:25:06Z [Term] id: DOID:0070535 name: arrhythmogenic biventricular cardiomyopathy def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. (DO)" [PMID:31637441 "DO"] synonym: "biventricular ACM" EXACT [] xref: ORDO:293899 is_a: DOID:0060036 ! intrinsic cardiomyopathy created_by: mtutaj creation_date: 2024-02-28T16:31:10Z [Term] id: DOID:0070536 name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures alt_id: DOID:9006904 def: "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)" [PMID:34163037 "DO"] synonym: "NEDHLSS" EXACT [] xref: MIM:620029 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0080001 ! bone disease is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2024-02-28T16:34:44Z [Term] id: DOID:0070537 name: spastic tetraplegia, thin corpus callosum, and progressive microcephaly alt_id: DOID:9004845 def: "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. (DO)" [PMID:25930971 "DO", PMID:26138499 "DO"] synonym: "SLC1A4-related condition" EXACT [] synonym: "SPATCCM" EXACT [] xref: GARD:13425 xref: MIM:616657 xref: MONDO:0014725 xref: ORDO:447997 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: mtutaj creation_date: 2024-02-28T16:38:08Z [Term] id: DOID:0070538 name: syndromic X-linked intellectual developmental disorder Bain type alt_id: DOID:9008950 def: "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK584018/ "DO", PMID:27545675 "DO", PMID:37372334 "DO"] synonym: "Bain type of X-linked syndromic mental retardation" EXACT [] synonym: "HNRNPH2-related condition" BROAD [] synonym: "HNRNPH2-related neurodevelopmental disorder" EXACT [] synonym: "HNRNPH2-RNDD" EXACT [] synonym: "Mental Retardation, X-linked, Syndrome, Bain Type" EXACT [] synonym: "MRXSB" EXACT [] synonym: "syndromic X-linked mental retardation, Bain type" EXACT [] xref: GARD:13442 xref: MIM:300986 xref: MONDO:0010512 xref: NCI:C183311 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2024-02-28T16:41:03Z [Term] id: DOID:0070539 name: Halperin-Birk syndrome alt_id: DOID:9004325 def: "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. (DO)" [PMID:30464055 "DO"] synonym: "HLBKS" EXACT [] synonym: "NEDSOSB" EXACT [] synonym: "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" EXACT [] xref: EFO:0010662 xref: MIM:618651 xref: MONDO:0032849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2024-04-01T11:20:47Z [Term] id: DOID:0070540 name: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency alt_id: DOID:9003746 def: "A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK542806/ "DO", PMID:25125611 "DO"] synonym: "ECHS1D" EXACT [] synonym: "ECHS1-RELATED CONDITION" EXACT [] xref: GARD:13019 xref: MIM:616277 xref: MONDO:0014563 xref: NCI:C174218 xref: ORDO:653880 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:3652 ! Leigh disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:02:44Z [Term] id: DOID:0070541 name: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency alt_id: DOID:9006234 def: "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. (DO)" [PMID:3128690 "DO"] synonym: "3-hydroxy 3-methyl glutaric aciduria" EXACT [] synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT [] synonym: "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency" EXACT [] synonym: "3-Hydroxyl 3-Methyl Glutaric Aciduria" EXACT [] synonym: "Deficiency of Hydroxymethylglutaryl-CoA Lyase" EXACT [] synonym: "HL DEFICIENCY" EXACT [] synonym: "HMGCLD" EXACT [] synonym: "HMGCL deficiency" EXACT [] synonym: "HMG CoA lyase deficiency" EXACT [] synonym: "hydroxymethylglutaric aciduria" EXACT [] xref: GARD:8387 xref: MESH:C538324 xref: MIM:246450 xref: MONDO:0009520 xref: NCI:C84523 xref: ORDO:20 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:07:45Z [Term] id: DOID:0070542 name: neurodevelopmental disorder with spastic paraplegia and microcephaly alt_id: DOID:9002164 def: "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. (DO)" [PMID:29882329 "DO", PMID:31471722 "DO"] synonym: "autosomal recessive mental retardation 49" EXACT [] synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT [] synonym: "GPT2 deficiency" EXACT [] synonym: "GPT2-RELATED CONDITION" EXACT [] synonym: "GPT2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "MRT49" EXACT [] synonym: "NEDSPM" EXACT [] xref: MIM:616281 xref: MONDO:0014567 xref: ORDO:477673 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:17:40Z [Term] id: DOID:0070543 name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities alt_id: DOID:9001963 def: "An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. (DO)" [PMID:33015733 "DO"] synonym: "NEDCASB" EXACT [] synonym: "SHMT2-RELATED CONDITION" EXACT [] xref: MIM:619121 xref: MONDO:0030866 xref: NCI:C215054 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:23:01Z [Term] id: DOID:0070544 name: congenital glutamine deficiency alt_id: DOID:9008125 def: "An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)" [PMID:21353613 "DO"] synonym: "GLND" EXACT [] synonym: "GLUL-RELATED CONDITION" BROAD [] synonym: "Glutamine synthase deficiency, congenital systemic" EXACT [] synonym: "Glutamine synthetase deficiency, congenital systemic" EXACT [] xref: GARD:9848 xref: MESH:C536832 xref: MIM:610015 xref: MONDO:0012393 xref: ORDO:71278 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:26:08Z [Term] id: DOID:0070545 name: developmental and epileptic encephalopathy 116 alt_id: DOID:9006440 def: "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)" [PMID:38579670 "DO"] synonym: "DEE116" EXACT [] synonym: "GLUL-RELATED CONDITION" BROAD [] synonym: "GLUTAMINE SYNTHETASE STABILIZATION DISORDER" EXACT [] xref: MIM:620806 xref: MONDO:0970945 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:30:34Z [Term] id: DOID:0070546 name: primary pigmented nodular adrenocortical disease 1 alt_id: DOID:9005321 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. (DO)" [PMID:12213893 "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD1" EXACT [] synonym: "Adrenocortical Nodular Dysplasia, Primary" EXACT [] synonym: "Pigmented Micronodular Adrenocortical Disease, Primary, 1" EXACT [] synonym: "PPNAD1" EXACT [] xref: MESH:C566469 xref: MIM:610489 xref: MONDO:0012509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:35:03Z [Term] id: DOID:0070547 name: primary pigmented nodular adrenocortical disease 2 alt_id: DOID:9002348 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. (DO)" [PMID:16767104 "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD2" EXACT [] synonym: "PDE11A-related condition" BROAD [] synonym: "Pigmented Micronodular Adrenocortical Disease, Primary, 2" EXACT [] synonym: "PPNAD2" EXACT [] xref: MESH:C566472 xref: MIM:610475 xref: MONDO:0012505 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:38:18Z [Term] id: DOID:0070548 name: primary pigmented nodular adrenocortical disease 3 alt_id: DOID:9005327 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. (DO)" [PMID:18272904 "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD3" EXACT [] synonym: "PDE8B-RELATED CONDITION" BROAD [] synonym: "PPNAD3" EXACT [] xref: MIM:614190 xref: MONDO:0013616 is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:42:12Z [Term] id: DOID:0070549 name: primary pigmented nodular adrenocortical disease 4 alt_id: DOID:9006355 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. (DO)" [PMID:24571724 "DO", PMID:25924874 "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD4" EXACT [] synonym: "chromosome 19p13 duplication syndrome" EXACT [] synonym: "PPNAD4" EXACT [] synonym: "PRKACA-RELATED CONDITION" BROAD [] xref: MIM:615830 xref: MONDO:0014359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:42:25Z [Term] id: DOID:0070550 name: KRT1-related nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)" [PMID:12406346 "DO", PMID:7528239 "DO"] synonym: "KRT1-related NEPPK" EXACT [] xref: GARD:5186 xref: MIM:600962 xref: ORDO:530838 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma created_by: mtutaj creation_date: 2024-06-28T16:49:42Z [Term] id: DOID:0070551 name: epidermolytic palmoplantar keratoderma 2 alt_id: DOID:9006539 def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)" [PMID:11286630 "DO", PMID:37122192 "DO"] synonym: "EPPK2" EXACT [] xref: MIM:620411 xref: MONDO:0957303 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma created_by: mtutaj creation_date: 2024-06-28T16:57:29Z [Term] id: DOID:0070552 name: epidermolytic palmoplantar keratoderma 1 alt_id: DOID:9002579 alt_id: DOID:9007353 def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. (DO)" [PMID:12192490 "DO", PMID:30666268 "DO"] synonym: "Epidermolytic Palmoplantar Keratoderma Vorner Type" EXACT [] synonym: "Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads" EXACT [] synonym: "EPPK1" EXACT [] synonym: "KERATOSIS OF GREITHER" RELATED [] synonym: "KRT9-RELATED DISORDER" EXACT [] synonym: "Palmoplantar Keratoderma, Vorner Type" EXACT [] xref: MESH:C564171 xref: MESH:C567914 xref: MIM:144200 xref: MONDO:0007758 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma created_by: mtutaj creation_date: 2024-06-28T17:01:34Z [Term] id: DOID:0070553 name: focal palmoplantar and gingival keratosis alt_id: DOID:9008814 def: "A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. (DO)" [PMID:133736 "DO", PMID:15761417 "DO", PMID:33262878 "DO"] synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" EXACT [] synonym: "focal palmoplantar and oral mucosa hyperkeratosis" EXACT [] synonym: "keratosis, focal, palmoplantar, gingival" EXACT [] xref: GARD:3098 xref: MESH:C536157 xref: MIM:148730 xref: MONDO:0007860 xref: ORDO:2200 is_a: DOID:1483 ! gingival disease is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2024-06-28T17:06:52Z [Term] id: DOID:0070554 name: palmoplantar keratoderma and woolly hair alt_id: DOID:9005974 alt_id: DOID:9007018 def: "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. (DO)" [PMID:24671081 "DO", PMID:35283492 "DO"] synonym: "KANK2-RELATED CONDITION" BROAD [] synonym: "keratoderma with woolly hair type IV" EXACT [] synonym: "PPKWH" EXACT [] synonym: "SFWHS" EXACT [] synonym: "Skin Fragility-Woolly Hair Syndrome" EXACT [] synonym: "woolly hair-palmoplantar keratoderma syndrome type 4" EXACT [] xref: MESH:C564359 xref: MIM:616099 xref: MONDO:0014492 xref: ORDO:420686 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111572 ! familial woolly hair syndrome created_by: mtutaj creation_date: 2024-06-28T17:14:13Z [Term] id: DOID:0070555 name: Nagashima-type palmoplantar keratosis alt_id: DOID:9000205 def: "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. (DO)" [PMID:24207119 "DO", PMID:24773080 "DO", PMID:35178744 "DO"] synonym: "NPPK" EXACT [] synonym: "palmoplantar keratoderma Nagashima type" EXACT [] synonym: "PPKN" EXACT [] synonym: "SERPINB7-RELATED CONDITION" EXACT [] xref: MIM:615598 xref: MONDO:0014272 xref: ORDO:140966 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma created_by: mtutaj creation_date: 2024-07-01T08:54:42Z [Term] id: DOID:0070556 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 alt_id: DOID:9002943 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. (DO)" [https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1874/ "DO", PMID:21885617 "DO", PMID:27000652 "DO"] synonym: "CAMRQ1" EXACT [] synonym: "CAMRQ syndrome 1" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1)" EXACT [] synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" EXACT [] synonym: "CHMRQ1" EXACT [] synonym: "Des-Vldlr" EXACT [] synonym: "dysequilibrium syndrome-VLDLR" EXACT [] synonym: "VLDLR-associated cerebellar hypoplasia" EXACT [] synonym: "VLDLR Cerebellar Hypoplasia" EXACT [] synonym: "VLDLR-CH" EXACT [] synonym: "VLDLRCH" EXACT [] synonym: "VLDLR-related condition" BROAD [] xref: MIM:224050 xref: MONDO:0024542 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-07-31T15:14:40Z [Term] id: DOID:0070557 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 alt_id: DOID:9006893 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. (DO)" [PMID:21885617 "DO", PMID:22686558 "DO"] synonym: "CAMRQ2" EXACT [] synonym: "CAMRQ syndrome 2" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 2" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT [] synonym: "WDR81-RELATED CONDITION" BROAD [] xref: MESH:C567656 xref: MIM:610185 xref: MONDO:0012430 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-07-31T15:17:44Z [Term] id: DOID:0070558 name: autosomal recessive spinocerebellar ataxia 34 alt_id: DOID:9005300 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. (DO)" [PMID:19461874 "DO", PMID:32808436 "DO", PMID:38581205 "DO"] synonym: "CAMRQ3" EXACT [] synonym: "CAMRQ syndrome 3" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" EXACT [] synonym: "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT [] synonym: "SCA34" EXACT [] synonym: "SCAR34" EXACT [] xref: MESH:C567690 xref: MIM:613227 xref: MONDO:0013188 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-08-02T09:27:15Z [Term] id: DOID:0070559 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 alt_id: DOID:9006313 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. (DO)" [PMID:22892528 "DO", PMID:31612321 "DO"] synonym: "ATP8A2-RELATED CONDITION" EXACT [] synonym: "CAMRQ4" EXACT [] synonym: "CAMRQ syndrome 4" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 4" EXACT [] synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4" EXACT [] xref: MIM:615268 xref: MONDO:0014104 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-08-02T09:29:01Z [Term] id: DOID:0070560 name: glucose transporter type 1 deficiency syndrome alt_id: DOID:9007802 def: "A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO", PMID:31605543 "DO", PMID:36315575 "DO"] synonym: "Glucose transport defect, blood-brain barrier" EXACT [] synonym: "glucose transporter protein syndrome" EXACT [] synonym: "Glucose transporter type1 (GLUT-1) deficiency" EXACT [] synonym: "GLUT1 deficiency syndrome" EXACT [] synonym: "GLUT1DS" EXACT [] synonym: "PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER" EXACT [] xref: MESH:C536830 xref: MIM:PS606777 xref: MONDO:0000188 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:4194 ! glucose metabolism disease created_by: mtutaj creation_date: 2024-08-02T09:31:34Z [Term] id: DOID:0070561 name: glucose transporter type 1 deficiency syndrome 1 def: "A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO", PMID:36315575 "DO"] synonym: "classic glucose transporter type 1 deficiency syndrome" EXACT [] synonym: "classic GLUT1 deficiency syndrome" EXACT [] synonym: "classic GLUT1-DS" EXACT [] synonym: "De Vivo disease" EXACT [] synonym: "Encephalopathy Due To Glut1 Deficiency" EXACT [] synonym: "GLUT1 deficiency syndrome 1" EXACT [] synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" NARROW [] synonym: "GLUT1DS1" EXACT [] xref: EFO:0009139 xref: GARD:9265 xref: MIM:606777 xref: MONDO:0011724 xref: NCI:C168599 xref: ORDO:71277 is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome created_by: mtutaj creation_date: 2024-08-02T09:36:50Z [Term] id: DOID:0070562 name: Fanconi-Bickel syndrome def: "A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. (DO)" [PMID:3153325 "DO"] synonym: "FBS" EXACT [] synonym: "glycogenosis, Fanconi type" EXACT [] synonym: "glycogenosis type XI" EXACT [] synonym: "glycogen storage disease XI" RELATED [] xref: GARD:2268 xref: MIM:227810 xref: NCI:C168998 xref: ORDO:2088 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4194 ! glucose metabolism disease created_by: mtutaj creation_date: 2024-08-02T09:49:42Z [Term] id: DOID:0070563 name: glucose-galactose malabsorption alt_id: DOID:9001750 def: "A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. (DO)" [PMID:20486940 "DO"] synonym: "carbohydrate intolerance" EXACT [1] synonym: "complex carbohydrate intolerance" EXACT [1] synonym: "CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION" EXACT [] synonym: "DIAR16" EXACT [] synonym: "diarrhea 16" EXACT [] synonym: "GGM" EXACT [] synonym: "GM" EXACT [] synonym: "monosaccharide malabsorption" EXACT [] synonym: "SGLT1 deficiency" EXACT [] xref: GARD:6521 xref: MESH:C562602 xref: MIM:606824 xref: MONDO:0011731 xref: ORDO:35710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13250 ! diarrhea is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:9002984 ! Malabsorption Syndromes created_by: mtutaj creation_date: 2024-08-02T10:04:12Z [Term] id: DOID:0070564 name: dialysis disequilibrium syndrome def: "A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK559018/ "DO", PMID:26120445 "DO"] synonym: "dialysis dysequilibrium syndrome" EXACT [] xref: NCI:C114781 is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2024-08-29T18:34:30Z [Term] id: DOID:0070565 name: spermatogenic failure 66 alt_id: DOID:9000088 def: "A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2. (DO)" [PMID:31985809 "DO"] synonym: "SPGF66" EXACT [] synonym: "ZPBP-RELATED CONDITION" EXACT [] xref: MIM:619799 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia created_by: mtutaj creation_date: 2024-08-29T18:36:15Z [Term] id: DOID:0070566 name: spermatogenic failure 67 alt_id: DOID:9001970 def: "A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31. (DO)" [PMID:31985809 "DO"] synonym: "SPGF67" EXACT [] xref: MIM:619803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia created_by: mtutaj creation_date: 2024-08-29T18:39:14Z [Term] id: DOID:0070567 name: spermatogenic failure 68 alt_id: DOID:9000182 def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1. (DO)" [PMID:31985809 "DO"] synonym: "SPGF68" EXACT [] xref: MIM:619805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:41:17Z [Term] id: DOID:0070568 name: spermatogenic failure 69 alt_id: DOID:9002042 def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. (DO)" [PMID:31985809 "DO", PMID:33108537 "DO"] synonym: "GGN-RELATED CONDITION" EXACT [] synonym: "SPGF69" EXACT [] xref: MIM:619826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:42:59Z [Term] id: DOID:0070569 name: spermatogenic failure 70 alt_id: DOID:9001327 def: "A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3. (DO)" [PMID:29581481 "DO", PMID:35172124 "DO"] synonym: "SPGF70" EXACT [] xref: MIM:619828 xref: MONDO:0030733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:44:37Z [Term] id: DOID:0070570 name: spermatogenic failure 71 alt_id: DOID:9004400 def: "A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. (DO)" [PMID:32719396 "DO", PMID:33713115 "DO"] synonym: "SPGF71" EXACT [] xref: MIM:619831 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:45:49Z [Term] id: DOID:0070571 name: spermatogenic failure 72 alt_id: DOID:9005229 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [PMID:32323121 "DO"] synonym: "SPGF72" EXACT [] xref: MIM:619867 xref: MONDO:0030809 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:47:28Z [Term] id: DOID:0070572 name: spermatogenic failure 73 alt_id: DOID:9004961 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33. (DO)" [PMID:35476666 "DO"] synonym: "SPGF73" EXACT [] xref: MIM:619878 xref: MONDO:0030818 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:48:49Z [Term] id: DOID:0070573 name: spermatogenic failure 74 alt_id: DOID:9002151 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33. (DO)" [PMID:34755185 "DO"] synonym: "MSH5-RELATED CONDITION" BROAD [] synonym: "SPGF74" EXACT [] xref: MIM:619937 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:50:06Z [Term] id: DOID:0070574 name: spermatogenic failure 75 alt_id: DOID:9003010 def: "A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3. (DO)" [PMID:32741963 "DO", PMID:32900840 "DO"] synonym: "SHOC1-RELATED CONDITION" EXACT [] synonym: "SPGF75" EXACT [] xref: MIM:619949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:51:25Z [Term] id: DOID:0070575 name: spermatogenic failure 76 alt_id: DOID:9002551 def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1. (DO)" [PMID:34348960 "DO", PMID:38856307 "DO"] synonym: "SPGF76" EXACT [] xref: MIM:620084 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:52:30Z [Term] id: DOID:0070576 name: spermatogenic failure 77 alt_id: DOID:9005311 def: "A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. (DO)" [PMID:36150389 "DO"] synonym: "SPGF77" EXACT [] xref: MIM:620103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:53:43Z [Term] id: DOID:0070577 name: spermatogenic failure 78 alt_id: DOID:9006326 def: "A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11. (DO)" [PMID:36321563 "DO"] synonym: "SPGF78" EXACT [] xref: MIM:620170 xref: MONDO:0859338 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:54:59Z [Term] id: DOID:0070578 name: spermatogenic failure 79 alt_id: DOID:9003192 def: "A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23. (DO)" [PMID:34980136 "DO", PMID:35551387 "DO"] synonym: "SPGF79" EXACT [] xref: MIM:620196 xref: MONDO:0859352 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:56:28Z [Term] id: DOID:0070579 name: spermatogenic failure 80 alt_id: DOID:9000573 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3. (DO)" [PMID:34169321 "DO"] synonym: "DRC1-RELATED CONDITION" BROAD [] synonym: "SPGF80" EXACT [] xref: MIM:620222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:57:39Z [Term] id: DOID:0070580 name: spermatogenic failure 81 alt_id: DOID:9003963 def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12. (DO)" [PMID:36708031 "DO"] synonym: "SPGF81" EXACT [] xref: MIM:620277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:58:54Z [Term] id: DOID:0070581 name: spermatogenic failure 82 alt_id: DOID:9008398 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32. (DO)" [PMID:35228300 "DO"] synonym: "SPGF82" EXACT [] xref: MIM:620353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:00:30Z [Term] id: DOID:0070582 name: spermatogenic failure 83 alt_id: DOID:9002373 def: "A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3. (DO)" [PMID:36726469 "DO", PMID:36792588 "DO"] synonym: "SPGF83" EXACT [] xref: MIM:620354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:9001513 ! Asthenozoospermia created_by: mtutaj creation_date: 2024-08-29T19:01:40Z [Term] id: DOID:0070583 name: spermatogenic failure 84 alt_id: DOID:9001613 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23. (DO)" [PMID:34792097 "DO", PMID:35387802 "DO"] synonym: "SPGF84" EXACT [] xref: MIM:620409 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:02:57Z [Term] id: DOID:0070584 name: spermatogenic failure 85 alt_id: DOID:9007726 def: "A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. (DO)" [PMID:34172998 "DO"] synonym: "SPGF85" EXACT [] xref: MIM:620490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia created_by: mtutaj creation_date: 2024-08-29T19:04:18Z [Term] id: DOID:0070585 name: spermatogenic failure 86 alt_id: DOID:9003593 def: "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3. (DO)" [PMID:32923619 "DO", PMID:34727571 "DO"] synonym: "SPGF86" EXACT [] xref: MIM:620499 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:05:55Z [Term] id: DOID:0070586 name: spermatogenic failure 87 alt_id: DOID:9008317 def: "A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33. (DO)" [PMID:37004249 "DO"] synonym: "SPGF87" EXACT [] xref: MIM:620500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:07:15Z [Term] id: DOID:0070587 name: spermatogenic failure 88 alt_id: DOID:9003682 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. (DO)" [PMID:35587281 "DO", PMID:35674372 "DO"] synonym: "SPGF88" EXACT [] xref: MIM:620547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:12:27Z [Term] id: DOID:0070588 name: spermatogenic failure 89 alt_id: DOID:9006023 def: "A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21. (DO)" [PMID:37713809 "DO"] synonym: "SPGF89" EXACT [] xref: MIM:620705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:14:14Z [Term] id: DOID:0070589 name: spermatogenic failure 90 alt_id: DOID:9007862 def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31. (DO)" [PMID:35534203 "DO"] synonym: "SPGF90" EXACT [] xref: MIM:620744 xref: MONDO:0958242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:15:54Z [Term] id: DOID:0070590 name: spermatogenic failure 91 alt_id: DOID:9005577 def: "A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. (DO)" [PMID:31985809 "DO", PMID:36546111 "DO"] synonym: "SPGF91" EXACT [] xref: MIM:620838 xref: MONDO:0970952 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:17:10Z [Term] id: DOID:0070591 name: spermatogenic failure 92 alt_id: DOID:9004215 def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31. (DO)" [PMID:37804054 "DO", PMID:38091523 "DO"] synonym: "SPGF92" EXACT [] xref: MIM:620848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:18:26Z [Term] id: DOID:0070592 name: spermatogenic failure 93 alt_id: DOID:9005079 def: "A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4. (DO)" [PMID:34155512 "DO"] synonym: "SPGF93" EXACT [] xref: MIM:620849 xref: MONDO:0971000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:19:45Z [Term] id: DOID:0070593 name: spermatogenic failure 94 alt_id: DOID:9008649 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23. (DO)" [PMID:38441556 "DO"] synonym: "SPGF94" EXACT [] xref: MIM:620850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:20:56Z [Term] id: DOID:0070594 name: spermatogenic failure 95 alt_id: DOID:9009125 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. (DO)" [PMID:36752199 "DO"] synonym: "CFAP57-RELATED DISORDER" EXACT [] synonym: "SPGF95" EXACT [] xref: MIM:620917 xref: MONDO:0975747 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:22:17Z [Term] id: DOID:0070595 name: X-linked spermatogenic failure 4 alt_id: DOID:9001624 def: "A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. (DO)" [PMID:33963445 "DO", PMID:34413498 "DO", PMID:35172124 "DO"] synonym: "SPGFX4" EXACT [] xref: MIM:301077 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:23:33Z [Term] id: DOID:0070596 name: X-linked spermatogenic failure 5 alt_id: DOID:9003990 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23. (DO)" [PMID:36796361 "DO"] synonym: "SPGFX5" EXACT [] synonym: "SSX1-RELATED CONDITION" EXACT [] xref: MIM:301099 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:25:35Z [Term] id: DOID:0070597 name: X-linked spermatogenic failure 6 alt_id: DOID:9005967 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2. (DO)" [PMID:34202084 "DO"] synonym: "SPGFX6" EXACT [] synonym: "USP26-RELATED CONDITION" EXACT [] xref: MIM:301101 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:26:43Z [Term] id: DOID:0070598 name: X-linked spermatogenic failure 7 alt_id: DOID:9005480 def: "A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3. (DO)" [PMID:36481789 "DO"] synonym: "SPGFX7" EXACT [] xref: MIM:301106 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:28:10Z [Term] id: DOID:0070599 name: X-linked spermatogenic failure 8 alt_id: DOID:9006682 def: "A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1. (DO)" [PMID:38013430 "DO", PMID:38573307 "DO"] synonym: "SPGFX8" EXACT [] xref: MIM:301119 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:29:36Z [Term] id: DOID:0070600 name: intellectual disability and myopathy syndrome alt_id: DOID:9000176 def: "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12. (DO)" [PMID:31575858 "DO", PMID:38217872 "DO"] synonym: "ABCC9-related intellectual disability and myopathy" EXACT [] synonym: "AIMS" EXACT [] synonym: "IDMYS" EXACT [] xref: MIM:619719 xref: MONDO:0859224 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2024-09-30T12:13:03Z [Term] id: DOID:0070601 name: autosomal dominant nonsyndromic deafness 37 alt_id: DOID:9002069 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. (DO)" [PMID:30245514 "DO", PMID:33169910 "DO", PMID:33605226 "DO"] synonym: "autosomal dominant deafness 37" EXACT [] synonym: "DFNA37" EXACT [] xref: MIM:618533 xref: MONDO:0032802 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:15:23Z [Term] id: DOID:0070602 name: autosomal dominant nonsyndromic deafness 80 alt_id: DOID:9008687 def: "An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. (DO)" [PMID:29955957 "DO", PMID:32585897 "DO"] synonym: "autosomal dominant deafness 80" EXACT [] synonym: "DFNA80" EXACT [] synonym: "GREB1L-RELATED CONDITION" BROAD [] xref: MIM:619274 xref: MONDO:0030998 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:17:35Z [Term] id: DOID:0070603 name: autosomal dominant nonsyndromic deafness 82 alt_id: DOID:9001133 def: "An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. (DO)" [PMID:30535804 "DO"] synonym: "ATP2B2-RELATED CONDITION" BROAD [] synonym: "ATP2B2-RELATED DISORDER" BROAD [] synonym: "ATP2B2-RELATED PROGRESSIVE HEARING IMPAIRMENT" EXACT [] synonym: "autosomal dominant deafness 82" EXACT [] synonym: "DFNA82" EXACT [] xref: MIM:619804 xref: MONDO:0030719 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:25:48Z [Term] id: DOID:0070604 name: autosomal dominant nonsyndromic deafness 84 alt_id: DOID:9000796 def: "An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. (DO)" [PMID:35278131 "DO"] synonym: "autosomal dominant deafness 84" EXACT [] synonym: "DEAFNESS, AUTOSOMAL DOMINANT 84" EXACT [] synonym: "DFNA84" EXACT [] xref: MIM:619810 xref: MONDO:0030724 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:27:19Z [Term] id: DOID:0070605 name: autosomal dominant nonsyndromic deafness 85 alt_id: DOID:9002609 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. (DO)" [PMID:34059922 "DO"] synonym: "Deafness, autosomal dominant 85" EXACT [] synonym: "DFNA85" EXACT [] xref: MIM:620227 xref: MONDO:0859366 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:29:14Z [Term] id: DOID:0070606 name: autosomal dominant nonsyndromic deafness 87 alt_id: DOID:9001761 def: "An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. (DO)" [PMID:33358777 "DO"] synonym: "Deafness, autosomal dominant 87" EXACT [] synonym: "DFNA87" EXACT [] synonym: "PI4KB-RELATED CONDITION" EXACT [] xref: MIM:620281 xref: MONDO:0859525 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:31:00Z [Term] id: DOID:0070607 name: autosomal dominant nonsyndromic deafness 90 alt_id: DOID:9005157 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. (DO)" [PMID:29880844 "DO", PMID:32519820 "DO"] synonym: "Deafness, autosomal dominant 90" EXACT [] synonym: "DFNA90" EXACT [] xref: MIM:620722 xref: MONDO:0958232 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:32:21Z [Term] id: DOID:0070608 name: autosomal dominant nonsyndromic deafness 81 alt_id: DOID:9002982 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11. (DO)" [PMID:29713870 "DO"] synonym: "autosomal dominant deafness 81" EXACT [] synonym: "DFNA81" EXACT [] synonym: "ELMOD3-RELATED CONDITION" BROAD [] xref: MIM:619500 xref: MONDO:0030549 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:33:46Z [Term] id: DOID:0070609 name: autosomal dominant nonsyndromic deafness 83 alt_id: DOID:9003741 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. (DO)" [PMID:33268592 "DO"] synonym: "DEAFNESS, AUTOSOMAL DOMINANT 83" EXACT [] synonym: "DFNA83" EXACT [] synonym: "MAP1B-RELATED CONDITION" BROAD [] xref: MIM:619808 xref: MONDO:0030723 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:35:47Z [Term] id: DOID:0070610 name: autosomal dominant nonsyndromic deafness 86 alt_id: DOID:9002299 def: "An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. (DO)" [PMID:32776944 "DO"] synonym: "Deafness, autosomal dominant 86" EXACT [] synonym: "DFNA86" EXACT [] xref: MIM:620280 xref: MONDO:0859524 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:37:10Z [Term] id: DOID:0070611 name: autosomal dominant nonsyndromic deafness 88 alt_id: DOID:9002506 def: "An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. (DO)" [PMID:21651318 "DO", PMID:36048850 "DO"] synonym: "Deafness, autosomal dominant 88" EXACT [] synonym: "DFNA88" EXACT [] xref: MIM:620283 xref: MONDO:0859527 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:38:35Z [Term] id: DOID:0070612 name: autosomal dominant nonsyndromic deafness 89 alt_id: DOID:9003948 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22. (DO)" [PMID:33111345 "DO"] synonym: "ATOH1-RELATED CONDITION" EXACT [] synonym: "Deafness, autosomal dominant 89" EXACT [] synonym: "DFNA89" EXACT [] xref: MIM:620284 xref: MONDO:0859528 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:40:03Z [Term] id: DOID:0070613 name: familial renal glucosuria def: "A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. (DO)" [PMID:19965550 "DO", PMID:30942416 "DO"] synonym: "familial renal glycosuria" EXACT [] synonym: "FRG" EXACT [] synonym: "hereditary renal glycosuria" EXACT [] synonym: "SGLT2 deficiency" EXACT [] synonym: "SLC5A2-RELATED CONDITION" EXACT [] xref: GARD:7548 xref: MIM:233100 xref: MONDO:0009297 xref: ORDO:69076 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9432 ! renal glycosuria created_by: mtutaj creation_date: 2024-09-30T12:41:39Z [Term] id: DOID:0070614 name: chromosome 11 partial duplication syndrome alt_id: DOID:9004084 def: "A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. (DO)" [https://medlineplus.gov/genetics/chromosome/11/ "DO"] synonym: "11q Partial Trisomy" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q13-qter" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q21-qter" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q23-qter" EXACT [] synonym: "Distal Trisomy 11q" EXACT [] synonym: "partial duplication of chromosome 11" EXACT [] synonym: "partial trisomy 11" EXACT [] xref: MESH:C538294 xref: ORDO:262653 is_a: DOID:9003960 ! Trisomy created_by: mtutaj creation_date: 2024-09-30T12:48:28Z [Term] id: DOID:0070615 name: autoinflammation, antibody deficiency, and immune dysregulation syndrome alt_id: DOID:9005237 def: "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23. (DO)" [PMID:23000145 "DO", PMID:30619256 "DO"] synonym: "APLAID" EXACT [] synonym: "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" EXACT [] synonym: "autoinflammation, antibody deficiency, and immune dysregulation, PLCG2-associated" EXACT [] synonym: "PLCG2-RELATED DISORDER" BROAD [] xref: GARD:17486 xref: MIM:614878 xref: MONDO:0013944 xref: ORDO:324530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2024-11-01T16:37:29Z [Term] id: DOID:0070616 name: glycine encephalopathy 1 alt_id: DOID:9005920 def: "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. (DO)" [https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1357/ "DO"] synonym: "GCE1" EXACT [] xref: MIM:605899 xref: MONDO:0958179 is_a: DOID:9268 ! glycine encephalopathy created_by: mtutaj creation_date: 2024-11-01T16:41:58Z [Term] id: DOID:0070617 name: rhabdoid tumor predisposition syndrome def: "A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. (DO)" [https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK469816/ "DO"] synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [] synonym: "rhabdoid predisposition syndrome" EXACT [] synonym: "RTPS" EXACT [] xref: MIM:PS609322 xref: NCI:C93268 xref: ORDO:231108 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001329 ! Tumor Predisposition Syndrome created_by: mtutaj creation_date: 2024-11-01T16:07:04Z [Term] id: DOID:0070618 name: rhabdoid tumor predisposition syndrome 1 def: "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. (DO)" [https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK469816/ "DO"] synonym: "AT/RT" RELATED [] synonym: "Brain Tumor, Posterior Fossa, of Infancy, Familial" EXACT [] synonym: "MALIGNANT RHABDOID TUMOR, SOMATIC" RELATED [] synonym: "RDT" RELATED [] synonym: "RHABDOID TUMOR" RELATED [] synonym: "RTPS1" EXACT [] synonym: "TERATOID TUMOR, ATYPICAL" RELATED [] xref: MESH:C563738 xref: MIM:609322 is_a: DOID:0070617 ! rhabdoid tumor predisposition syndrome created_by: mtutaj creation_date: 2024-11-01T16:59:07Z [Term] id: DOID:0070619 name: mitochondrial trifunctional protein deficiency 1 alt_id: DOID:9008729 def: "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein. (DO)" [PMID:12754706 "DO"] synonym: "mitochondrial trifunctional protein deficiency 1 with myopathy and neuropathy" NARROW [] synonym: "MTPD1" EXACT [] synonym: "trifunctional protein deficiency, type 1" EXACT [] xref: MIM:609015 xref: MONDO:0958181 is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency created_by: mtutaj creation_date: 2024-11-01T17:17:22Z [Term] id: DOID:0070620 name: ring chromosome syndrome alt_id: DOID:9006940 def: "A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. (DO)" [https://en.wikipedia.org/wiki/Ring_chromosome "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC9519620/ "DO", https://rarechromo.org/glossary/ "DO"] synonym: "RC" EXACT [] synonym: "ring chromosome" EXACT [] synonym: "ring syndrome" EXACT [] xref: ICD10CM:Q93.2 xref: MESH:D012303 xref: ORDO:363203 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:9004814 ! Chromosome Aberrations created_by: mtutaj creation_date: 2024-11-27T21:53:18Z [Term] id: DOID:0070621 name: ring chromosome 14 syndrome alt_id: DOID:9000295 def: "A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. (DO)" [https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC5387247/ "DO", PMID:23610869 "DO", PMID:24116895 "DO"] synonym: "Chromosome 14 ring" EXACT [] synonym: "r(14) syndrome" EXACT [] synonym: "r14 syndrome" EXACT [] synonym: "Ring 14" EXACT [] synonym: "Ring 14 Syndrome" EXACT [] xref: GARD:6072 xref: MESH:C535487 xref: MIM:616606 xref: MONDO:0014708 xref: NCI:C185638 xref: ORDO:1440 is_a: DOID:0070620 ! ring chromosome syndrome is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2024-11-27T21:57:48Z [Term] id: DOID:0070622 name: ring chromosome 20 syndrome alt_id: DOID:9002466 def: "A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. (DO)" [https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome/ "DO", PMID:33363513 "DO"] synonym: "R(20) Syndrome" EXACT [] synonym: "r20 syndrome" EXACT [] synonym: "ring 20" RELATED [] synonym: "Ring 20 Syndrome" EXACT [] synonym: "Ring Chromosome 20" EXACT [] synonym: "Ring Chromosome 20 Epilepsy Syndrome" EXACT [] xref: GARD:1334 xref: MESH:C535369 xref: MESH:C580424 xref: MONDO:0015436 xref: NCI:C169001 xref: ORDO:1444 is_a: DOID:0070620 ! ring chromosome syndrome is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2024-11-27T22:02:28Z [Term] id: DOID:0070623 name: B-lymphoblastic leukemia with MEF2D rearrangement def: "A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199233 "DO", PMID:38990294 "DO"] synonym: "B-lymphoblastic leukaemia with MEF2D rearrangement" EXACT [] xref: NCI:C199233 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-11-28T06:33:04Z [Term] id: DOID:0070624 name: B-lymphoblastic leukemia with MYC rearrangement def: "A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199230 "DO", PMID:37120350 "DO"] synonym: "B Acute Lymphoblastic Leukemia with MEF2D Rearrangement" EXACT [] synonym: "B-lymphoblastic leukaemia with MYC rearrangement" EXACT [] xref: NCI:C199230 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-11-28T06:34:34Z [Term] id: DOID:0070625 name: B-lymphoblastic leukemia with NUTM1 rearrangement def: "A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199239 "DO", PMID:37120350 "DO"] synonym: "B-lymphoblastic leukaemia with NUTM1 rearrangement" EXACT [] xref: NCI:C199239 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-11-28T06:36:34Z [Term] id: DOID:0070626 name: B-lymphoblastic leukemia with PAX5alt def: "A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199264 "DO", PMID:37120350 "DO"] synonym: "B-Acute Lymphoblastic Leukemia with PAX5 Alteration" EXACT [] synonym: "B-lymphoblastic leukaemia with PAX5alt" EXACT [] xref: ICDO:9811/3 xref: NCI:C199264 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-11-28T06:38:27Z [Term] id: DOID:0070627 name: B-lymphoblastic leukemia with TCF3-HLF fusion def: "A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200587 "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC3549381/ "DO", PMID:31305009 "DO", PMID:37120350 "DO"] synonym: "B-lymphoblastic leukaemia with TCF3::HLF fusion" EXACT [] synonym: "B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Fusion" EXACT [] synonym: "B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement" EXACT [] xref: NCI:C200587 xref: ORDO:641375 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-11-28T06:39:25Z [Term] id: DOID:0070628 name: B-lymphoblastic leukemia with ZNF384 rearrangement def: "A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199234 "DO", PMID:37120350 "DO"] synonym: "B-lymphoblastic leukaemia with ZNF384 rearrangement" EXACT [] xref: NCI:C199234 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-11-28T06:40:31Z [Term] id: DOID:0070629 name: acute myeloid leukemia with CBFA2T3-GLIS2 fusion def: "An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C132109 "DO", PMID:23045605 "DO", PMID:23153540 "DO", PMID:30592296 "DO"] synonym: "Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2" EXACT [] synonym: "Acute myeloid leukaemia with CBFA2T3::GLIS2 fusion" EXACT [] synonym: "acute myeloid leukemia with inv(16)(p13q24)" EXACT [] synonym: "GLIS2-RELATED CONDITION" BROAD [] xref: NCI:C132109 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2024-11-28T06:41:30Z [Term] id: DOID:0070630 name: acute myeloid leukemia with KAT6A-CREBBP fusion def: "An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200421 "DO", PMID:23974201 "DO"] synonym: "Acute myeloid leukaemia with KAT6A::CREBBP fusion" EXACT [] synonym: "Acute myeloid leukemia with t(8;16)(p11;p13) translocation" EXACT [] xref: NCI:C200421 xref: ORDO:370026 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2024-11-28T06:42:34Z [Term] id: DOID:0070631 name: acute myeloid leukemia with FUS-ERG fusion def: "An acute myeloid leukemia associated with FUS-ERG gene fusion. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200419 "DO", PMID:24068373 "DO", PMID:30150206 "DO"] synonym: "Acute myeloid leukaemia with FUS::ERG fusion" EXACT [] synonym: "acute myeloid leukemia with t(16;21)(p11.2;q22)" EXACT [] xref: NCI:C200419 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2024-11-28T06:47:02Z [Term] id: DOID:0070632 name: acute myeloid leukemia with MNX1-ETV6 fusion def: "An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C122690 "DO", PMID:29227476 "DO", PMID:29569294 "DO"] synonym: "Acute myeloid leukaemia with MNX1::ETV6 fusion" EXACT [] synonym: "acute myeloid leukemia with t(7;12)(q36;p13)" EXACT [] synonym: "Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6" EXACT [] xref: NCI:C122690 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2024-11-28T06:47:52Z [Term] id: DOID:0070633 name: acute myeloid leukemia with NPM1-MLF1 fusion def: "An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200420 "DO", PMID:14506644 "DO", PMID:20471513 "DO"] synonym: "Acute myeloid leukaemia with NPM1::MLF1 fusion" EXACT [] synonym: "acute myeloid leukemia with t(3;5)(q25;q35)" EXACT [] xref: NCI:C200420 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2024-11-28T06:48:43Z [Term] id: DOID:0070634 name: sitosterolemia 1 alt_id: DOID:9002547 def: "A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21. (DO)" [PMID:11099417 "DO"] synonym: "ABCG8-related condition" BROAD [] synonym: "Mediterranean macrothrombocytopenia-stomatocytosis" NARROW [] synonym: "Mediterranean phytosterolemia macrothrombocytopenia/stomatocytosis" NARROW [] synonym: "STSL1" EXACT [] xref: MIM:210250 xref: MONDO:0020747 is_a: DOID:0090019 ! sitosterolemia created_by: mtutaj creation_date: 2025-04-02T19:23:03Z [Term] id: DOID:0070635 name: cardiovascular-kidney-metabolic syndrome def: "A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. (DO)" [PMID:37807924 "DO"] synonym: "cardio-kidney-metabolic syndrome" EXACT [] synonym: "cardiovascular-renal-metabolic syndrome" EXACT [] synonym: "CKM syndrome" EXACT [] synonym: "CRM syndrome" EXACT [] is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2025-05-30T11:59:10Z [Term] id: DOID:0070636 name: mirror movements 1 alt_id: DOID:9002570 def: "A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5894478/ "DO", PMID:20431009 "DO", PMID:31697046 "DO"] synonym: "BIMANUAL SYNERGIA" EXACT [] synonym: "congenital mirror movements" EXACT [] synonym: "DEVELOPMENTAL SPLIT BRAIN SYNDROME" EXACT [] synonym: "MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM" EXACT [] synonym: "MRMV1" EXACT [] xref: MIM:157600 xref: MONDO:0008002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias created_by: mtutaj creation_date: 2025-06-30T09:38:28Z [Term] id: DOID:0070637 name: mirror movements 2 alt_id: DOID:9003461 def: "A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5099496/ "DO"] synonym: "MRMV2" EXACT [] xref: MIM:614508 xref: MONDO:0013790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias created_by: mtutaj creation_date: 2025-06-30T09:40:28Z [Term] id: DOID:0070638 name: mirror movements 4 alt_id: DOID:9003768 def: "A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5663368/ "DO"] synonym: "MRMV4" EXACT [] synonym: "NTN1-related condition" BROAD [] xref: MIM:618264 xref: MONDO:0032641 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias created_by: mtutaj creation_date: 2025-06-30T09:42:05Z [Term] id: DOID:0070639 name: mirror movements 3 alt_id: DOID:9008815 def: "A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13. (DO)" [PMID:25098561 "DO"] synonym: "MRMV3" EXACT [] xref: MIM:616059 xref: MONDO:0014478 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias created_by: mtutaj creation_date: 2025-06-30T09:43:47Z [Term] id: DOID:0070640 name: hereditary spastic paraplegia 18A def: "A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11. (DO)" [PMID:29528531 "DO", PMID:32094424 "DO"] synonym: "autosomal dominant spastic paraplegia 18" EXACT [] synonym: "autosomal dominant spastic paraplegia 18A" EXACT [] synonym: "spastic paraplegia 18A" EXACT [] synonym: "SPG18A" EXACT [] xref: MIM:620512 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110771 ! hereditary spastic paraplegia 18 created_by: mtutaj creation_date: 2025-08-04T10:39:59Z [Term] id: DOID:0070641 name: hereditary spastic paraplegia 18B def: "A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11. (DO)" [PMID:21330303 "DO", PMID:21796390 "DO"] synonym: "autosomal recessive spastic paraplegia 18" EXACT [] synonym: "autosomal recessive spastic paraplegia 18B" EXACT [] synonym: "autosomal recessive spastic paraplegia type 18" EXACT [] synonym: "IDMDC" EXACT [] synonym: "intellectual disability, motor dysfunction, and joint contractures" EXACT [] synonym: "spastic paraplegia 18B" EXACT [] synonym: "SPG18B" EXACT [] xref: MIM:611225 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110771 ! hereditary spastic paraplegia 18 created_by: mtutaj creation_date: 2025-08-04T10:44:01Z [Term] id: DOID:0070642 name: hereditary spastic paraplegia 72B def: "A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31. (DO)" [PMID:24388663 "DO"] synonym: "autosomal recessive spastic paraplegia type 72" EXACT [] synonym: "spastic paraplegia 72, autosomal recessive" EXACT [] synonym: "spastic paraplegia 72B" EXACT [] synonym: "spastic paraplegia 72B, autosomal recessive" EXACT [] synonym: "SPG72B" EXACT [] xref: MIM:620606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2025-08-04T10:46:53Z [Term] id: DOID:0070643 name: hereditary spastic paraplegia 91 alt_id: DOID:9008626 def: "A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [PMID:35150594 "DO", PMID:36331550 "DO"] synonym: "autosomal dominant spastic paraplegia 91" EXACT [] synonym: "autosomal dominant spastic paraplegia 91 with or without cerebellar ataxia" EXACT [] synonym: "SPG91" EXACT [] xref: MIM:620538 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2025-08-04T10:51:15Z [Term] id: DOID:0070644 name: hereditary spastic paraplegia 92 alt_id: DOID:9006664 def: "A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23. (DO)" [PMID:36136088 "DO"] synonym: "autosomal recessive spastic paraplegia 92" EXACT [] synonym: "SPG92" EXACT [] xref: MIM:620911 xref: MONDO:0975746 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2025-06-30T09:45:40Z [Term] id: DOID:0070645 name: hereditary spastic paraplegia 93 alt_id: DOID:9008888 def: "A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13. (DO)" [PMID:36256512 "DO"] synonym: "autosomal recessive spastic paraplegia 93" EXACT [] synonym: "SPG93" EXACT [] xref: MIM:620938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2025-08-04T10:53:38Z [Term] id: DOID:0070646 name: hereditary spastic paraplegia 30B alt_id: DOID:9007792 def: "A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37. (DO)" [PMID:21487076 "DO"] synonym: "autosomal recessive spastic paraplegia 30" EXACT [] synonym: "autosomal recessive spastic paraplegia 30B" EXACT [] synonym: "SPG30B" EXACT [] xref: MESH:C563677 xref: MIM:620607 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110781 ! hereditary spastic paraplegia 30 created_by: mtutaj creation_date: 2025-08-04T10:55:14Z [Term] id: DOID:0070647 name: hereditary spastic paraplegia 30A alt_id: DOID:9009150 def: "A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)" [PMID:31488895 "DO"] synonym: "autosomal dominant spastic paraplegia 30" EXACT [] synonym: "autosomal dominant spastic paraplegia 30A" EXACT [] synonym: "spastic paraplegia 30A" EXACT [] synonym: "SPG30A" EXACT [] xref: MIM:610357 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110781 ! hereditary spastic paraplegia 30 created_by: mtutaj creation_date: 2025-08-04T10:58:10Z [Term] id: DOID:0070648 name: cherubism def: "A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling. (DO)" [https://medlineplus.gov/genetics/condition/cherubism/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1137/ "DO"] synonym: "familial benign giant-cell tumor of the jaw" EXACT [] synonym: "familial fibrous dysplasia of jaw" EXACT [] synonym: "familial multilocular cystic disease of the jaws" EXACT [] synonym: "fibrous dysplasia of jaw" EXACT [] xref: EFO:0004150 xref: MESH:D002636 xref: MONDO:0007315 xref: ORDO:184 is_a: DOID:0080011 ! bone resorption disease is_a: DOID:9003876 ! Jaw Diseases is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9008267 ! Fibrous Dysplasia of Bone created_by: mtutaj creation_date: 2025-08-04T11:00:11Z [Term] id: DOID:0070649 name: cherubism 2 def: "A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13. (DO)" [PMID:38699440 "DO"] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070648 ! cherubism created_by: mtutaj creation_date: 2025-08-04T11:07:30Z [Term] id: DOID:0070650 name: Ramon syndrome alt_id: DOID:9005980 def: "A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth. (DO)" [PMID:3789007 "DO", PMID:5235465 "DO"] synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth" EXACT [] synonym: "gingival fibromatosis combined with cherubism" EXACT [] xref: GARD:7523 xref: MESH:C535285 xref: MIM:266270 xref: ORDO:3019 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:0070648 ! cherubism is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2025-08-04T11:09:18Z [Term] id: DOID:0070651 name: neurodevelopmental disorder with seizures and gingival overgrowth alt_id: DOID:9002993 def: "A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC11061173/ "DO", MIM:619323 "DO", PMID:32623794 "DO"] synonym: "NEDSGO" EXACT [] xref: MIM:619323 xref: MONDO:0859148 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:3086 ! gingival overgrowth is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2025-08-04T11:11:14Z [Term] id: DOID:0070652 name: Nil-Deshwan neurodevelopmental syndrome def: "A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC10645550/ "DO", PMID:40494548 "DO"] xref: MIM:621265 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2025-09-02T08:47:38Z [Term] id: DOID:0070653 name: Fliedner-Zweier syndrome alt_id: DOID:9008654 def: "A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22. (DO)" [PMID:32730804 "DO", PMID:36333968 "DO", PMID:37394306 "DO"] synonym: "FZS" EXACT [] synonym: "SCAF4-related condition" BROAD [] synonym: "SCAF4-related syndromic intellectual disability" EXACT [] xref: MIM:620511 xref: MONDO:0957787 xref: ORDO:528084 is_a: DOID:0050888 ! syndromic intellectual disability created_by: mtutaj creation_date: 2025-08-04T11:13:57Z [Term] id: DOID:0070654 name: desmosterolosis alt_id: DOID:9004193 def: "A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC1226055/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC4076431/ "DO"] synonym: "DHCR24-related condition" EXACT [] xref: GARD:10283 xref: MESH:C566555 xref: MIM:602398 xref: MONDO:0011217 xref: ORDO:35107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2025-09-02T08:49:51Z [Term] id: DOID:0070655 name: Usher syndrome type 1B alt_id: DOID:9003365 def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13. (DO)" [PMID:7870171 "DO"] synonym: "RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS" EXACT [] synonym: "USH1A" EXACT [] synonym: "USH1B" EXACT [] synonym: "Usher Syndrome Type IA" EXACT [] synonym: "Usher Syndrome Type IB" EXACT [] synonym: "USHER SYNDROME, TYPE I, FRENCH VARIETY" EXACT [] xref: MESH:C536485 xref: MESH:C564755 xref: MIM:276900 xref: MONDO:0700087 is_a: DOID:0110826 ! Usher syndrome type 1 created_by: mtutaj creation_date: 2025-09-30T14:17:16Z [Term] id: DOID:0070656 name: hamartoma syndrome def: "A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562298/ "DO"] is_a: DOID:225 ! syndrome is_a: DOID:3462 ! hamartoma created_by: mtutaj creation_date: 2025-09-02T11:52:09Z [Term] id: DOID:0070657 name: congenital variant of Rett syndrome alt_id: DOID:9008979 def: "A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5522617/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC6747066/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK604176/ "DO", PMID:28661489 "DO"] synonym: "atypical Rett syndrome" EXACT [] synonym: "FOXG1 DISORDER" EXACT [] synonym: "FOXG1-RELATED CONDITION" EXACT [] synonym: "FOXG1-related encephalopathy" BROAD [] synonym: "FOXG1 syndrome" EXACT [] synonym: "Rett syndrome, congenital variant" EXACT [] xref: GARD:12825 xref: MIM:613454 xref: MONDO:0100040 xref: NCI:C176903 xref: ORDO:561854 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060040 ! pervasive developmental disorder is_a: DOID:1206 ! Rett syndrome created_by: mtutaj creation_date: 2025-09-30T14:22:47Z [Term] id: DOID:0070658 name: alcohol-associated liver disease alt_id: DOID:9001285 def: "A liver disease resulting from excessive alcohol intake. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK546632/ "DO", https://www.nhs.uk/conditions/alcohol-related-liver-disease-arld/ "DO", PMID:31314133 "DO"] synonym: "alcoholic liver disease" EXACT [] synonym: "Alcoholic Liver Diseases" EXACT [] synonym: "alcohol-related liver disease" EXACT [] xref: EFO:0008573 xref: ICD10CM:K70 xref: ICD9CM:571.3 xref: MESH:D008108 xref: NCI:C34783 is_a: DOID:409 ! liver disease is_a: DOID:9004354 ! Alcohol-Related Disorders created_by: mtutaj creation_date: 2025-09-30T14:26:47Z [Term] id: DOID:0070659 name: alpha-gal syndrome def: "An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC6839685/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC6980324/ "DO", https://www.cdc.gov/alpha-gal-syndrome/about/index.html "DO", https://www.thermofisher.com/allergy/us/en/living-with-allergies/food-allergies/10-new-and-surprising-facts-about-alpha-gal-syndrome.html "DO"] synonym: "alpha-gal allergy" EXACT [] synonym: "delayed anaphylaxis to red meat" EXACT [] synonym: "galactose-alpha-1,3-galactose allergy" EXACT [] synonym: "galactose-α-1,3-galactose allergy" EXACT [] synonym: "mammalian meat allergy" EXACT [] synonym: "red meat allergy" EXACT [] synonym: "α-gal allergy" EXACT [] synonym: "α-gal syndrome" EXACT [] xref: ICD10CM:Z91.014 xref: MESH:C000655084 is_a: DOID:1205 ! allergic disease created_by: mtutaj creation_date: 2025-11-03T09:37:40Z [Term] id: DOID:0070660 name: Lafora disease 1 alt_id: DOID:9005547 def: "A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24. (DO)" [PMID:19469843 "DO"] synonym: "EPM2A" EXACT [] synonym: "EPM2A-related condition" EXACT [] synonym: "MELF1" EXACT [] synonym: "myoclonic epilepsy of Lafora 1" EXACT [] synonym: "progressive myoclonic epilepsy 2A" EXACT [] xref: MIM:254780 xref: MONDO:0958199 is_a: DOID:3534 ! Lafora disease created_by: mtutaj creation_date: 2025-11-03T09:40:08Z [Term] id: DOID:0070661 name: muscle dysmorphic disorder def: "A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC10526212/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC12466485/ "DO", PMID:32737999 "DO"] synonym: "bigorexia" EXACT [] synonym: "bigorexia nervosa" EXACT [] synonym: "body dysmorphic disorder with muscle dysmorphia" EXACT [] synonym: "muscle dysmorphia" EXACT [] synonym: "reverse anorexia" EXACT [] is_a: DOID:0060163 ! body dysmorphic disorder created_by: mtutaj creation_date: 2025-11-25T16:54:34Z [Term] id: DOID:0070662 name: subcutaneous panniculitis-like T-cell lymphoma alt_id: DOID:9008980 def: "A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK538517/ "DO", PMID:19195975 "DO", PMID:30374066 "DO"] synonym: "HAVCR2-RELATED CONDITION" EXACT [] synonym: "SPTCL" EXACT [] xref: EFO:1000552 xref: ICD10CM:C86.3 xref: ICDO:9708/3 xref: MESH:C537503 xref: MIM:618398 xref: MONDO:0019475 xref: NCI:C6918 xref: ORDO:86884 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma is_a: DOID:1526 ! panniculitis created_by: mtutaj creation_date: 2025-11-25T16:56:35Z [Term] id: DOID:0070663 name: soft tissue sarcoma def: "A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels). (DO)" [https://en.wikipedia.org/wiki/Soft-tissue_sarcoma "DO", https://www.cancer.org/cancer/types/soft-tissue-sarcoma/about/soft-tissue-sarcoma.html "DO", PMID:31236647 "DO"] xref: NCI:C9306 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer created_by: mtutaj creation_date: 2025-11-25T17:00:51Z [Term] id: DOID:0070664 name: oropharyngeal squamous cell carcinoma def: "An oropharynx cancer that derives_from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK563268/ "DO", PMID:26215712 "DO"] synonym: "epidermoid carcinoma of the oropharynx" EXACT [] synonym: "OPSCC" EXACT [] xref: NCI:C8181 xref: ORDO:500478 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:8557 ! oropharynx cancer created_by: mtutaj creation_date: 2025-11-25T17:02:44Z [Term] id: DOID:0070665 name: lipofibromatosis def: "A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally. (DO)" [https://en.wikipedia.org/wiki/Lipofibromatosis "DO", PMID:11075850 "DO", PMID:30310176 "DO"] xref: ICDO:8851/1 xref: NCI:C99180 is_a: DOID:0060123 ! connective tissue benign neoplasm created_by: mtutaj creation_date: 2025-12-30T14:39:30Z [Term] id: DOID:0070666 name: infantile myofibromatosis 1 alt_id: DOID:9004241 def: "An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC3675240/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC3675260/ "DO"] synonym: "IMF1" EXACT [] xref: MIM:228550 xref: MONDO:0009227 xref: NCI:C176943 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080109 ! infantile myofibromatosis created_by: mtutaj creation_date: 2025-12-30T14:42:02Z [Term] id: DOID:0070667 name: infantile myofibromatosis 2 alt_id: DOID:9002746 def: "An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC3675260/ "DO"] synonym: "IMF2" EXACT [] xref: MIM:615293 xref: MONDO:0014122 xref: NCI:C176944 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080109 ! infantile myofibromatosis created_by: mtutaj creation_date: 2025-12-30T14:42:19Z [Term] id: DOID:0080000 name: muscular disease def: "A musculoskeletal system disease that affects the muscles. (DO)" [http://www.nlm.nih.gov/medlineplus/muscledisorders.html "DO"] synonym: "muscle disorder" EXACT [] synonym: "muscle disorders" EXACT [] synonym: "muscular diseases" EXACT [] synonym: "SKELETAL MUSCLE DISEASE" NARROW [] xref: EFO:0002970 xref: MESH:D009135 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:0080001 name: bone disease def: "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. (DO)" [http://en.wikipedia.org/wiki/Bone_disease "DO"] synonym: "bone diseases" EXACT [] synonym: "disorder of patella" NARROW [] synonym: "skeletal disease" EXACT [] synonym: "skeletal disorder" EXACT [] xref: EFO:0004260 xref: EFO:0009665 xref: ICD10CM:M89.9 xref: MESH:D001847 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0080005 name: bone remodeling disease def: "A bone disease that results_in formation or resorption abnormalities located_in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_remodeling "DO"] is_a: DOID:0080001 ! bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080006 name: bone development disease def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. (DO)" [http://en.wikipedia.org/wiki/Dysplasia "DO"] synonym: "BMPR1A SKELETAL DYSPLASIA SYNDROME" NARROW [] synonym: "bone dysplasia" EXACT [] synonym: "bone dysplasias" EXACT [] synonym: "developmental bone disease" EXACT [] synonym: "developmental bone diseases" EXACT [] synonym: "sclerosing bone dysplasias" RELATED [] xref: EFO:0005541 xref: MESH:D001848 xref: MONDO:0005497 is_a: DOID:0080001 ! bone disease is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:0080007 name: bone deterioration disease def: "A bone structure disease that results_in change or damage of structure located_in bone. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm "DO"] xref: RDO:9004312 is_a: DOID:0080010 ! bone structure disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080008 name: ischemic bone disease def: "A bone disease that results_in an interruption of blood supply located_in bone. (DO)" [http://en.wikipedia.org/wiki/Avascular_necrosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm "DO"] xref: EFO:0004259 is_a: DOID:0080001 ! bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080009 name: X-linked dominant disease def: "A X-linked monogenic disease that has_material_basis_in dominant inheritance. (DO)" [https://en.wikipedia.org/wiki/X-linked_dominant_inheritance "DO"] is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0080010 name: bone structure disease def: "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)" [http://en.wikipedia.org/wiki/Human_skeleton "DO"] synonym: "ABNORMAL BONE STRUCTURE" EXACT [] synonym: "Abnormality of bone mineral density" NARROW [] xref: HP:0003330 xref: HP:0004348 xref: MP:0003795 is_a: DOID:0080001 ! bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080011 name: bone resorption disease def: "A bone remodeling disease that results in an abnormal decrease of bone density or mass. (DO)" [http://en.wikipedia.org/wiki/Bone_resorption "DO", PMID:11277085 "DO"] synonym: "Bone Resorption" EXACT [] synonym: "Bone Resorptions" EXACT [] synonym: "Osteoclastic Bone Loss" EXACT [] synonym: "Osteoclastic Bone Losses" EXACT [] xref: MESH:D001862 is_a: DOID:0080001 ! bone disease is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0080012 name: X-linked recessive disease def: "A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)" [https://en.wikipedia.org/wiki/X-linked_recessive_inheritance "DO"] synonym: "X-linked recessive inheritance" EXACT [] is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0080014 name: chromosomal disease def: "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. (DO)" [http://en.wikipedia.org/wiki/Chromosome_abnormality "DO", https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet "DO"] synonym: "Autosomal Chromosome Disorder" EXACT [] synonym: "autosomal chromosome disorders" EXACT [] synonym: "Chromosomal Disorder" EXACT [] synonym: "chromosomal disorders" EXACT [] synonym: "Chromosome Abnormality Disorder" EXACT [] synonym: "Chromosome Abnormality Disorders" EXACT [] synonym: "chromosome disorder" EXACT [] synonym: "chromosome disorders" EXACT [] xref: EFO:0003831 xref: MESH:D025063 xref: MONDO:0019040 is_a: DOID:630 ! genetic disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:0080015 name: physical disorder def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder "DO"] synonym: "congenital disorder" EXACT [] is_a: DOID:4 ! disease [Term] id: DOID:0080016 name: spina bifida alt_id: OMIA:000938 def: "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida "DO", https://ghr.nlm.nih.gov/condition/spina-bifida "DO"] synonym: "cleft spine" EXACT [] synonym: "open spine" EXACT [] synonym: "rachischises" EXACT [] synonym: "rachischisis" EXACT [] synonym: "schistorrhachis" EXACT [] synonym: "Spina Bifidas" EXACT [] synonym: "Spina Bifida, Susceptibility To" RELATED [] synonym: "spinal dysraphia" EXACT [] synonym: "spinal dysraphias" EXACT [] synonym: "spinal dysraphism" EXACT [] synonym: "spinal dysraphisms" EXACT [] synonym: "status dysraphicus" EXACT [] xref: EFO:0003105 xref: GARD:7673 xref: ICD9CM:741 xref: MESH:D016135 xref: NCI:C101214 is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:0080018 name: dysbaric osteonecrosis def: "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. (DO)" [http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis "DO"] synonym: "Caisson disease of bone" EXACT [] synonym: "DON" EXACT [] is_a: DOID:0080008 ! ischemic bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080019 name: metaphyseal dysplasia alt_id: MIM:265900 def: "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. (DO)" [http://en.wikipedia.org/wiki/Metaphyseal_dysplasia "DO"] synonym: "Bakwin-Krida syndrome" EXACT [] synonym: "Edwin Pyle disease" EXACT [] synonym: "metaphyseal dysplasia, Pyle type" EXACT [] synonym: "metaphyseal dysplasia with little involvement of the cranial bones" EXACT [] synonym: "PYL" EXACT [] synonym: "Pyle's disease" EXACT [] synonym: "Pyle-Cohn syndrome" EXACT [] synonym: "Pyle disease" EXACT [] synonym: "Pyle metaphyseal dysplasia" EXACT [] synonym: "SFRP4-RELATED CONDITION" EXACT [] xref: MESH:C536252 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080020 name: Jansen's metaphyseal chondrodysplasia def: "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)" [http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia "DO", http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype "DO"] synonym: "Jansen disease" EXACT [] synonym: "Jansen metaphyseal chondrodysplasia" EXACT [] synonym: "Jansen metaphyseal dysostosis" EXACT [] synonym: "Jansen type metaphyseal chondrodysplasia" EXACT [] synonym: "metaphyseal chondrodysplasia Murk Jansen type" EXACT [] xref: MESH:C537564 xref: MIM:156400 xref: MONDO:0007982 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:0080021 name: Schmid metaphyseal chondrodysplasia alt_id: MIM:156500 alt_id: OMIA:001718 def: "A metaphyseal dysplasia that results_in dwarfism and bowed legs. (DO)" [http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia "DO", http://www.ncbi.nlm.nih.gov/omim/156500 "DO"] synonym: "COL10A1-RELATED CONDITION" EXACT [] synonym: "dwarfism, Schmid metaphyseal chondrodysplasia" EXACT [] synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [] synonym: "MCDS" EXACT [] synonym: "Schmid type metaphyseal dysplasia" EXACT [] xref: GARD:7029 xref: MESH:C537352 is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:0080026 name: otospondylomegaepiphyseal dysplasia, autosomal recessive def: "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (DO)" [http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia "DO", http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia "DO", http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm "DO", http://www.ncbi.nlm.nih.gov/omim/215150 "DO"] synonym: "chondrodystrophy with sensorineural deafness" EXACT [] synonym: "Insley-Astley syndrome" EXACT [] synonym: "mega-epiphyseal dwarfism" EXACT [] synonym: "megaepiphyseal dwarfism" EXACT [] synonym: "Nance Insley syndrome" EXACT [] synonym: "Nance-Sweeney chondrodysplasia" EXACT [] synonym: "OSMED" EXACT [] synonym: "OSMEDB" EXACT [] synonym: "oto-spondylo-mega-epiphyseal dysplasia" EXACT [] synonym: "oto-spondylo-megaepiphyseal dysplasia" EXACT [] synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [] synonym: "WZS, formerly" RELATED [] xref: MESH:C536140 xref: MIM:215150 xref: MIM:249230 xref: MIM:PS184840 xref: MONDO:0044206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080027 name: spondyloepimetaphyseal dysplasia def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)" [http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia "DO"] synonym: "SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA" EXACT [] is_a: DOID:0060564 ! spinal disease is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0080028 name: spondyloepimetaphyseal dysplasia, Strudwick type def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)" [http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type "DO", http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type "DO"] synonym: "dappled metaphysis syndrome" EXACT [] synonym: "SED Strudwick" EXACT [] synonym: "SEMDC" EXACT [] synonym: "Semd, Strudwick type" EXACT [] synonym: "SEMDSTWK" EXACT [] synonym: "SMED, Strudwick type" EXACT [] synonym: "SMED, type I" EXACT [] synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" EXACT [] synonym: "Strudwick syndrome" EXACT [] xref: GARD:134 xref: MESH:C537501 xref: MIM:184250 xref: MONDO:0008476 xref: ORDO:93346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:0080029 name: autosomal recessive spinocerebellar ataxia 16 def: "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. (DO)" [PMID:24113144 "DO"] synonym: "SCAR16" EXACT [] synonym: "STUB1-RELATED CONDITION" BROAD [] xref: MIM:615768 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080030 name: spondyloepimetaphyseal dysplasia, Missouri type alt_id: MIM:602111 def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (DO)" [PMID:16167086 "DO"] synonym: "MANDP1" NARROW [] synonym: "METAPHYSEAL ANADYSPLASIA 1" NARROW [] synonym: "MMP13-RELATED CONDITION" BROAD [] synonym: "SEMD, Missouri type" EXACT [] xref: GARD:10618 xref: MESH:C566574 xref: ORDO:93356 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0080031 name: fibrous dysplasia def: "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. (DO)" [http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00083 "DO", http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm "DO"] xref: GARD:6444 xref: ICDO:8818/0 xref: NCI:C34609 is_a: DOID:0080005 ! bone remodeling disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080032 name: craniodiaphyseal dysplasia alt_id: MIM:218300 def: "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)" [http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia "DO", ORDO:1513 "DO"] xref: GARD:1567 xref: MESH:C562940 is_a: DOID:4254 ! osteosclerosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080033 name: craniometaphyseal dysplasia def: "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. (DO)" [http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia "DO", https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK154653/ "DO"] xref: MIM:PS123000 xref: MONDO:0015465 xref: ORDO:1522 is_a: DOID:4254 ! osteosclerosis is_a: DOID:9006105 ! Craniomandibular Disorders created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0080036 name: SOST-related sclerosing bone dysplasia def: "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)" [http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia "DO"] synonym: "ELEVATED ALKALINE PHOSPHATASE" BROAD [] synonym: "endosteal hyperostosis, autosomal recessive" EXACT [] synonym: "hyperostosis corticalis generalisata" EXACT [] synonym: "hyperphosphatasemia tarda" EXACT [] synonym: "van Buchem disease" EXACT [] synonym: "VBCH" EXACT [] xref: MIM:239100 xref: MONDO:0009395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:205 ! hyperostosis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0080037 name: Worth syndrome alt_id: DOID:0111372 alt_id: MESH:C536527 alt_id: MIM:144750 def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (DO)" [http://en.wikipedia.org/wiki/Worth_syndrome "DO", PMID:12579474 "DO", PMID:29709743 "DO", PMID:4942110 "DO"] synonym: "autosomal dominant endosteal hyperostosis" EXACT [] synonym: "autosomal dominant osteosclerosis" EXACT [] synonym: "autosomal dominant osteosclerosis, Worth type" EXACT [] synonym: "autosomal dominant osteosclerosis, Worth type with torus palatinus" EXACT [] synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [] synonym: "benign hyperostosis corticalis generalisata" EXACT [] synonym: "endosteal hyperostosis, Worth type" EXACT [] synonym: "Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus" EXACT [] synonym: "hyperostosis corticalis generalisata congenita" EXACT [] synonym: "osteosclerosis of the skull and enlarged mandible" EXACT [] synonym: "Worth's syndrome" EXACT [] synonym: "Worth disease" EXACT [] xref: GARD:390 xref: MESH:C536748 xref: ORDO:2790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13533 ! osteopetrosis is_a: DOID:205 ! hyperostosis is_a: DOID:225 ! syndrome is_a: DOID:4254 ! osteosclerosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080038 name: pycnodysostosis def: "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. (DO)" [http://en.wikipedia.org/wiki/Pycnodysostosis "DO"] synonym: "PKND" EXACT [] synonym: "PYCD" EXACT [] synonym: "pycnodysostoses" EXACT [] synonym: "pyknodysostoses" EXACT [] synonym: "pyknodysostosis" EXACT [] xref: GARD:4611 xref: MESH:D058631 xref: MIM:265800 xref: MONDO:0009940 xref: ORDO:763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0080039 name: axial osteomalacia def: "An osteosclerosis that results_in coarsening located_in trabecular bone. (DO)" [http://en.wikipedia.org/wiki/Axial_osteomalacia "DO"] synonym: "Atypical osteomalacia involving the axial skeleton" EXACT [] xref: GARD:8431 xref: MESH:C537791 xref: MIM:109130 xref: MONDO:0007181 is_a: DOID:10573 ! osteomalacia is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0080040 name: fibrogenesis imperfecta ossium def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. (DO)" [PMID:7559718 "DO"] synonym: "Baker's disease" EXACT [] xref: MONDO:0000849 is_a: DOID:225 ! syndrome is_a: DOID:9003519 ! Pathologic Bone Demineralization created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080041 name: hypochondroplasia alt_id: MIM:146000 def: "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Hypochondroplasia "DO", http://ghr.nlm.nih.gov/condition/hypochondroplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1477/ "DO"] synonym: "HCH" EXACT [] synonym: "hypochondrodysplasia" EXACT [] xref: GARD:6724 xref: MESH:C562937 xref: NCI:C118697 xref: ORDO:429 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006496 ! Lordosis is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080042 name: autosomal recessive spinocerebellar ataxia 18 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. (DO)" [PMID:24078737 "DO"] synonym: "GRID2-RELATED CONDITION" BROAD [] synonym: "SCAR18" EXACT [] xref: MIM:616204 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:0080043 name: achondrogenesis def: "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm "DO", http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis "DO"] synonym: "achondrogenesis syndrome" EXACT [] xref: GARD:2882 xref: MESH:C579878 xref: MIM:PS200600 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080044 name: hypochondrogenesis def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (DO)" [http://en.wikipedia.org/wiki/Hypochondrogenesis "DO", http://ghr.nlm.nih.gov/condition/hypochondrogenesis "DO", http://www.healthline.com/galecontent/hypochondrogenesis "DO"] xref: MESH:C563007 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080045 name: Kniest dysplasia alt_id: MIM:156550 def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)" [http://ghr.nlm.nih.gov/condition/kniest-dysplasia "DO", http://www.ksginfo.org/kniest.html "DO"] synonym: "Kniest Chondrodystrophy" EXACT [] synonym: "Kniest Syndrome" EXACT [] synonym: "Swiss Cheese Cartilage Dysplasia" EXACT [] xref: GARD:6841 xref: MESH:C537207 xref: NCI:C125594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:674 ! cleft palate is_a: DOID:854 ! collagen disease is_a: DOID:9000613 ! Hyaline Membrane Disease is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080046 name: Stickler syndrome def: "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)" [https://en.wikipedia.org/wiki/Stickler_syndrome "DO", https://ghr.nlm.nih.gov/condition/stickler-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1302/ "DO"] synonym: "AUTOSOMAL RECESSIVE STICKLER SYNDROME" NARROW [] synonym: "Stickler syndrome, dominant" NARROW [] xref: GARD:10782 xref: MIM:PS108300 xref: MONDO:0019354 xref: NCI:C74984 xref: ORDO:828 is_a: DOID:225 ! syndrome is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0080047 name: pseudoachondroplasia alt_id: MIM:177170 def: "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Pseudoachondroplasia "DO", http://ghr.nlm.nih.gov/condition/pseudoachondroplasia "DO", http://www.healthline.com/galecontent/pseudoachondroplasia "DO", http://www.wheelessonline.com/ortho/pseudoachondroplasia "DO", ORDO:750 "DO"] synonym: "PSACH" EXACT [] synonym: "pseudoachondroplastic dysplasia" EXACT [] synonym: "pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT [] synonym: "pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" EXACT [] xref: GARD:4540 xref: MESH:C535819 xref: NCI:C118635 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080049 name: acromesomelic dysplasia def: "An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. (DO)" [http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia "DO", https://rarediseases.org/rare-diseases/acromesomelic-dysplasia/ "DO"] synonym: "acromesomelic dwarfism" EXACT [] xref: GARD:6 xref: MESH:C535658 xref: MIM:PS602875 xref: ORDO:93437 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080050 name: acromesomelic dysplasia, Maroteaux type def: "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13. (DO)" [http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"] synonym: "acromesomelic dwarfism Maroteux type" EXACT [] synonym: "acromesomelic dysplasia 1" EXACT [] synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [] synonym: "AMD1" EXACT [] synonym: "AMDM" EXACT [] synonym: "St. Helena dysplasia" EXACT [] xref: GARD:507 xref: MESH:C535661 xref: MIM:602875 xref: MONDO:0011275 xref: ORDO:40 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080051 name: acromesomelic dysplasia, Hunter-Thompson type def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)" [http://www.orpha.net/data/patho/GB/uk-hunter05.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"] synonym: "acromesomelic dysplasia 2C" EXACT [] synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [] synonym: "AMD2C" EXACT [] synonym: "AMDH" EXACT [] xref: GARD:506 xref: MIM:201250 xref: ORDO:968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080052 name: acromesomelic dysplasia, Grebe type alt_id: MIM:200700 def: "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11. (DO)" [http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"] synonym: "achondrogenesis type II, formerly" RELATED [] synonym: "acromesomelic dysplasia 2A" EXACT [] synonym: "AMD2A" EXACT [] synonym: "AMDG" EXACT [] synonym: "Brazilian achondrogenesis" EXACT [] synonym: "chondrodysplasia, Grebe type" EXACT [] synonym: "Grebe chondrodysplasia" EXACT [] synonym: "Grebe dysplasia" EXACT [] synonym: "Grebe syndrome" EXACT [] xref: GARD:1300 xref: MESH:C537915 xref: ORDO:2098 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0080053 name: pseudohypoparathyroidism type 1A def: "A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele. (DO)" [http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy "DO"] synonym: "Albright's hereditary osteodystrophy" EXACT [] synonym: "Albright hereditary osteodystrophy" EXACT [] synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [] synonym: "PHP1A" EXACT [] synonym: "PHP IA" EXACT [] synonym: "pseudohypoparathyroidism, type IA" EXACT [] synonym: "pseudohypoparathyroidism, type IA, with testotoxicosis" NARROW [1] xref: GARD:7486 xref: MIM:103580 xref: MONDO:0007078 xref: NCI:C118434 xref: ORDO:79443 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:0080054 name: achondrogenesis type IA alt_id: MIM:200600 def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_1A "DO"] synonym: "ACG1A" EXACT [] synonym: "Achondrogenesis, Houston-Harris type" EXACT [] synonym: "achondrogenesis type 1A" EXACT [] synonym: "Houston-Harris achondrogenesis" EXACT [] synonym: "TRIP11-related condition" BROAD [] synonym: "TRIP11-RELATED SKELETAL DYSPLASIA" BROAD [] xref: GARD:459 xref: MESH:C536015 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080043 ! achondrogenesis is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080055 name: achondrogenesis type IB alt_id: MIM:600972 alt_id: RDO:0001426 def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_1B "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1516/ "DO"] synonym: "ACG1B" EXACT [] synonym: "achondrogenesis, Fraccaro type" EXACT [] synonym: "achondrogenesis type 1B" EXACT [] synonym: "Fraccaro achondrogenesis" EXACT [] xref: GARD:460 xref: MESH:C536016 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080043 ! achondrogenesis is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080056 name: achondrogenesis type II alt_id: MIM:200610 def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_2 "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO"] synonym: "ACG2" EXACT [] synonym: "achondrogenesis, Langer-Saldino type" EXACT [] synonym: "achondrogenesis type 2" EXACT [] synonym: "achondrogenesis type 2 or hypochondrogenesis" EXACT [] synonym: "achondrogenesis type IB (formerly)" RELATED [] synonym: "chondrogenesis imperfecta" EXACT [] synonym: "Langer-Saldino achondrogenesis" EXACT [] xref: GARD:8713 xref: MESH:C536017 xref: NCI:C3816 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080043 ! achondrogenesis is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080057 name: autosomal recessive spinocerebellar ataxia 15 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. (DO)" [PMID:20826435 "DO"] synonym: "RUBCN-related condition" BROAD [] synonym: "Salih ataxia" EXACT [] synonym: "SCAR15" EXACT [] xref: MIM:615705 xref: MONDO:0014311 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080058 name: autosomal recessive spinocerebellar ataxia 14 alt_id: OMIA:002092 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. (DO)" [PMID:23236289 "DO"] synonym: "autosomal recessive cerebellar ataxia, spectrin-associated, 1" EXACT [] synonym: "SCAR14" EXACT [] synonym: "SPARCA1" EXACT [] synonym: "spinocerebellar ataxia, SPTBN2-related" EXACT [] synonym: "SPTBN2-RELATED CONDITION" BROAD [] xref: MIM:615386 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080059 name: autosomal recessive spinocerebellar ataxia 7 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)" [https://ghr.nlm.nih.gov/gene/TPP1 "DO", PMID:26224725 "DO"] synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" EXACT [] synonym: "SCAR7" EXACT [] synonym: "TPP1-related condition" BROAD [] xref: GARD:12232 xref: MESH:C563753 xref: MIM:609270 xref: MONDO:0012235 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080060 name: autosomal recessive spinocerebellar ataxia 12 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)" [PMID:24369382 "DO"] synonym: "SCAR12" EXACT [] synonym: "spinocerebellar ataxia with mental retardation and epilepsy" EXACT [] xref: MIM:614322 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:0080061 name: autosomal recessive spinocerebellar ataxia 2 alt_id: MIM:213200 def: "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO", MIM:606002 "DO"] synonym: "Cerebellar Hypoplasia, Nonprogressive Norman Type" EXACT [] synonym: "Cerebelloparenchymal Disorder III" EXACT [] synonym: "congenital cerebellar granular cell hypoplasia and mental retardation" EXACT [] synonym: "CPD3" EXACT [] synonym: "CPD III" EXACT [] synonym: "PMPCA-RELATED CONDITION" EXACT [] synonym: "SCAR2" EXACT [] xref: MESH:C565865 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:0080062 name: autosomal recessive spinocerebellar ataxia 13 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. (DO)" [PMID:22901947 "DO"] synonym: "GRM1-RELATED CONDITION" BROAD [] synonym: "SCAR13" EXACT [] xref: MIM:614831 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080063 name: autosomal recessive spinocerebellar ataxia 11 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. (DO)" [PMID:21835308 "DO"] synonym: "SCAR11" EXACT [] synonym: "SYT14-RELATED CONDITION" EXACT [] xref: MIM:614229 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080064 name: autosomal recessive spinocerebellar ataxia 17 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. (DO)" [PMID:26197978 "DO"] synonym: "CWF19L1-RELATED CONDITION" EXACT [] synonym: "SCAR17" EXACT [] xref: MIM:616127 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080065 name: autosomal recessive spinocerebellar ataxia 19 def: "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. (DO)" [PMID:25205112 "DO"] synonym: "Lichtenstein-Knorr syndrome" EXACT [] synonym: "LIKNS" EXACT [] synonym: "SCAR19" EXACT [] synonym: "SLC9A1-related condition" BROAD [] xref: MIM:616291 xref: MONDO:0014572 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:0080066 name: autosomal recessive spinocerebellar ataxia 20 def: "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. (DO)" [PMID:25439728 "DO"] synonym: "Cerebellar cortical degeneration" NARROW [] synonym: "SCAR20" EXACT [] synonym: "SNX14-related condition" BROAD [] xref: MIM:616354 xref: MONDO:0014601 xref: OMIA:002034 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: rgd creation_date: 2017-03-14T00:00:00Z [Term] id: DOID:0080067 name: Charcot-Marie-Tooth disease type 5 def: "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. (DO)" [https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO", PMID:12601114 "DO"] synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [] xref: MIM:600361 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0080068 name: Charcot-Marie-Tooth disease type 6 def: "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. (DO)" [https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO", PMID:26168012 "DO"] synonym: "Charcot-Marie-Tooth disease 6" EXACT [] synonym: "CMT6" EXACT [] synonym: "hereditary motor and sensory neuropathy type 6" EXACT [] synonym: "hereditary motor and sensory neuropathy, type VI" EXACT [] synonym: "hereditary motor and sensory neuropathy VI" EXACT [] synonym: "HMSN6" EXACT [] synonym: "HMSN VI" EXACT [] synonym: "peripheral neuropathy and optic atrophy" EXACT [] xref: MESH:C562851 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0080069 name: Charcot-Marie-Tooth disease type 7 def: "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. (DO)" [PMID:25491489 "DO"] is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0080070 name: mucolipidosis II alpha/beta alt_id: MIM:252500 def: "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (DO)" [https://en.wikipedia.org/wiki/I-cell_disease "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta "DO", https://rarediseases.org/rare-diseases/i-cell-disease/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1828/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/ "DO", PMID:16116615 "DO"] synonym: "GNPTAB-RELATED DISORDER" BROAD [] synonym: "ICD" EXACT [] synonym: "I-cell disease" EXACT [] synonym: "I-cell diseases" EXACT [] synonym: "inclusion-cell disease" EXACT [] synonym: "inclusion cell diseases" EXACT [] synonym: "mcolipidosis II alpha/beta" EXACT [] synonym: "ML II" EXACT [] synonym: "ML II alpha/beta" EXACT [] synonym: "mucolipidosis 2" EXACT [] synonym: "mucolipidosis II" EXACT [] synonym: "mucolipidosis type II" EXACT [] synonym: "type II mucolipidoses" EXACT [] xref: GARD:6749 xref: MESH:C538602 xref: MESH:C567100 xref: NCI:C61270 is_a: DOID:0080488 ! mucolipidosis is_a: DOID:3343 ! glycoproteinosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080071 name: mucolipidosis III alpha/beta def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. (DO)" [https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta "DO"] synonym: "atypical pseudo-Hurler polydystrophy mucolipidosis III alpha/beta" NARROW [] synonym: "GNPTAB-RELATED DISORDER" BROAD [] synonym: "ML III" EXACT [] synonym: "ML IIIA" EXACT [] synonym: "ML III alpha/beta" EXACT [] synonym: "mucolipidosis III" EXACT [] synonym: "mucolipidosis IIIA" EXACT [] synonym: "mucolipidosis type 3 A" EXACT [] synonym: "mucolipidosis type III alpha/beta" EXACT [] synonym: "pseudo-Hurler polydystrophy" EXACT [] xref: MESH:C537367 xref: MIM:252600 xref: MONDO:00018931 xref: ORDO:577 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080488 ! mucolipidosis is_a: DOID:3343 ! glycoproteinosis [Term] id: DOID:0080072 name: intestinal pseudo-obstruction alt_id: DOID:3878 def: "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. (DO)" [https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction "DO", PMID:31848803 "DO"] synonym: "chronic idiopathic intestinal pseudo-obstruction" EXACT [] synonym: "chronic intestinal pseudo-obstruction" EXACT [] synonym: "chronic intestinal pseudoobstruction" EXACT [] synonym: "deficiency of argyrophil myenteric plexus" EXACT [] synonym: "enteric neuropathy" EXACT [] synonym: "familial visceral neuropathy, autosomal recessive" EXACT [] synonym: "idiopathic intestinal pseudo-obstruction" EXACT [] synonym: "intestinal pseudoobstruction" EXACT [] synonym: "intestinal pseudoobstruction due to neuronal disease" EXACT [] synonym: "intestinal pseudo-obstructions" EXACT [] synonym: "intestinal pseudoobstructions" EXACT [] synonym: "intestine pseudoobstruction" EXACT [] synonym: "neuronal intestinal dysplasia" EXACT [] synonym: "neuronal intestinal pseudoobstruction" EXACT [] synonym: "pseudointestinal obstruction syndrome" EXACT [] synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" EXACT [] synonym: "pseudo-obstruction of intestine" EXACT [] synonym: "pseudoobstructive syndrome" EXACT [] synonym: "visceral myopathies" EXACT [] synonym: "visceral myopathy" EXACT [] xref: EFO:1000988 xref: GARD:12744 xref: GARD:6789 xref: MESH:C537394 xref: MESH:D007418 xref: MONDO:0002803 xref: NCI:C192634 xref: NCI:C34733 xref: ORDO:2978 is_a: DOID:5353 ! colonic disease is_a: DOID:8440 ! ileus is_a: DOID:863 ! nervous system disease [Term] id: DOID:0080073 name: spina bifida occulta def: "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta "DO"] synonym: "closed spinal bifida" EXACT [] synonym: "dermal sinus" EXACT [] synonym: "occult spina bifida" EXACT [] xref: MESH:D016136 xref: MONDO:0000859 is_a: DOID:0080016 ! spina bifida [Term] id: DOID:0080074 name: neural tube defect alt_id: MIM:182940 alt_id: MIM:222500 def: "A physical disorder characterized by incomplete closure of the neural tube. (DO)" [https://en.wikipedia.org/wiki/Neural_tube_defect "DO", https://www.ncbi.nlm.nih.gov/books/NBK555903/ "DO"] synonym: "Acrania" EXACT [] synonym: "acranias" EXACT [] synonym: "craniorachischises" EXACT [] synonym: "Craniorachischisis" EXACT [] synonym: "developmental neural tube defects" EXACT [] synonym: "Diastematomyelia" EXACT [] synonym: "Diastematomyelias" EXACT [] synonym: "Exencephalies" EXACT [] synonym: "Exencephaly" EXACT [] synonym: "FUZ-RELATED CONDITION" EXACT [] synonym: "Iniencephalies" EXACT [] synonym: "Iniencephaly" EXACT [] synonym: "neural tube defects" EXACT [] synonym: "NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO" EXACT [] synonym: "Neurenteric Cyst" EXACT [] synonym: "Neurenteric Cysts" EXACT [] synonym: "Neuroenteric Cyst" EXACT [] synonym: "Neuroenteric Cysts" EXACT [] synonym: "NTD" EXACT [] synonym: "SPINA BIFIDA" NARROW [] synonym: "Spinal Cord Myelodysplasia" EXACT [] synonym: "spinal cord myelodysplasias" EXACT [] synonym: "TBXT-RELATED CONDITION" BROAD [] synonym: "VANGL2-RELATED CONDITION" EXACT [] xref: GARD:4016 xref: MESH:D009436 is_a: DOID:0080015 ! physical disorder is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0080075 name: Neu-Laxova syndrome 2 alt_id: RDO:9003580 def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. (DO)" [MIM:616038 "DO"] synonym: "PSAT1-RELATED CONDITION" BROAD [] synonym: "PSAT1-RELATED DISORDER" BROAD [] xref: MIM:616038 is_a: DOID:0050721 ! serine deficiency is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0080076 name: Neu-Laxova syndrome 1 alt_id: MIM:256520 def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)" [MIM:256520 "DO"] synonym: "NLS" EXACT [] synonym: "NLS1" NARROW [] synonym: "PHGDH-RELATED DISORDER" BROAD [] xref: MESH:C536405 xref: RDO:0001986 is_a: DOID:0050721 ! serine deficiency is_a: DOID:10907 ! microcephaly is_a: DOID:1697 ! ichthyosis is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080077 name: hypophosphatemic nephrolithiasis/osteoporosis 1 def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [PMID:12324554 "DO"] synonym: "NPHLOP1" EXACT [] xref: GARD:18346 xref: MESH:C567363 xref: MIM:612286 xref: MONDO:0012850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis [Term] id: DOID:0080078 name: hypophosphatemic nephrolithiasis/osteoporosis 2 def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa020028 "DO", PMID:18784102 "DO", PMID:31364377 "DO"] synonym: "NHERF1-RELATED CONDITION" EXACT [] synonym: "NPHLOP2" EXACT [] xref: MESH:C567362 xref: MIM:612287 xref: MONDO:0012851 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0080079 name: nonsyndromic congenital nail disorder 1 alt_id: DOID:0080088 alt_id: MIM:161050 def: "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. (DO)" [PMID:26149975 "DO"] synonym: "claw-shaped nails" EXACT [] synonym: "ISOLATED NAIL ANOMALY" EXACT [] synonym: "isolated onychodystrophy totalis" EXACT [] synonym: "NDNC10" EXACT [] synonym: "nonsyndromic congenital nail disorder 10" EXACT [] synonym: "twenty-nail dystrophy" EXACT [] xref: MESH:C562907 xref: ORDO:280654 xref: ORDO:79153 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder [Term] id: DOID:0080080 name: nonsyndromic congenital nail disorder 2 alt_id: DOID:9003708 def: "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. (DO)" [PMID:26149975 "DO"] synonym: "congenital koilonychia" EXACT [] synonym: "familial koilonychia" EXACT [] synonym: "hereditary koilonychia" EXACT [] synonym: "NDNC2" EXACT [] synonym: "spoon nails" EXACT [1] xref: MESH:C537260 xref: MIM:149300 xref: MONDO:0007867 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0080081 name: nonsyndromic congenital nail disorder 3 def: "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. (DO)" [PMID:26149975 "DO"] synonym: "LEUKONYCHIA PUNCTATA" NARROW [] synonym: "LEUKONYCHIA TOTALIS AND/OR PARTIALIS" EXACT [] synonym: "NDNC3" EXACT [] synonym: "PLCD1-RELATED CONDITION" EXACT [] synonym: "PORCELAIN NAILS LEUKONYCHIA STRIATUS" NARROW [] xref: MIM:151600 xref: MONDO:0007900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder is_a: DOID:9008749 ! Leukonychia Totalis [Term] id: DOID:0080082 name: nonsyndromic congenital nail disorder 4 alt_id: DOID:0050643 alt_id: MIM:206800 def: "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)" [https://ghr.nlm.nih.gov/condition/anonychia-congenita "DO", PMID:26149975 "DO"] synonym: "Anonychia" EXACT [] synonym: "ANONYCHIA/HYPONYCHIA CONGENITA" EXACT [] synonym: "anonychia congenita" EXACT [] synonym: "ANONYCHIA TOTALIS" EXACT [] synonym: "Hyponychia congenita" EXACT [] synonym: "NDNC4" EXACT [] synonym: "RSPO4-RELATED CONDITION" BROAD [] xref: GARD:12930 xref: MESH:C536377 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0080083 name: nonsyndromic congenital nail disorder 5 alt_id: MIM:164800 def: "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. (DO)" [PMID:26149975 "DO"] synonym: "hereditary distal onycholysis" EXACT [] synonym: "NDNC5" EXACT [] synonym: "Partial Onycholysis with Scleronychia" EXACT [] xref: MESH:C563503 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder is_a: DOID:9000584 ! Onycholysis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0080084 name: nonsyndromic congenital nail disorder 6 def: "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. (DO)" [PMID:26149975 "DO"] synonym: "ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY" EXACT [] synonym: "ANONYCHIA, PARTIAL" EXACT [] synonym: "NDNC6" EXACT [] xref: MIM:107000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0080085 name: nonsyndromic congenital nail disorder 7 alt_id: MIM:605779 def: "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. (DO)" [PMID:26149975 "DO"] synonym: "Nail Dysplasia, Isolated Congenital" EXACT [] synonym: "NDNC7" EXACT [] synonym: "Onychodysplasia, Isolated Congenital" EXACT [] xref: MESH:C538333 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder [Term] id: DOID:0080086 name: nonsyndromic congenital nail disorder 8 def: "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. (DO)" [PMID:26149975 "DO"] synonym: "isolated toenail dystrophy" EXACT [] synonym: "NDNC8" EXACT [] xref: MESH:C564384 xref: MIM:607523 xref: MONDO:0011852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder [Term] id: DOID:0080087 name: nonsyndromic congenital nail disorder 9 def: "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. (DO)" [PMID:26149975 "DO"] synonym: "ANONYCHIA-ONYCHOLYSIS, ISOLATED" EXACT [] synonym: "NAIL DYSPLASIA" EXACT [] synonym: "NDNC9" EXACT [] synonym: "ONYCHODYSTROPHY" EXACT [] xref: MIM:614149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder is_a: DOID:9000584 ! Onycholysis [Term] id: DOID:0080089 name: tubular aggregate myopathy 1 def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO"] synonym: "autosomal dominant myotubular myopathy" EXACT [] synonym: "TAM1" EXACT [] xref: MIM:160565 xref: MONDO:0024531 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002092 ! Tubular Aggregate Myopathies created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0080090 name: reducing body myopathy 1A alt_id: MIM:300717 def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)" [PMID:17099882 "DO"] synonym: "RBMX1A" EXACT [] synonym: "severe X-linked reducing body myopathy 1A with infantile or early childhood onset" EXACT [] synonym: "severe X-linked reducing body myopathy, early-onset" EXACT [] xref: MESH:C567469 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9002604 ! Reducing Body Myopathies [Term] id: DOID:0080092 name: myofibrillar myopathy 1 alt_id: DOID:0110286 def: "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (DO)" [PMID:23687351 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 7" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" EXACT [] synonym: "ARVC7" EXACT [] synonym: "ARVD7" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [] synonym: "CDCD3" RELATED [] synonym: "CMD1F and LGMD1D" RELATED [] synonym: "desmin-myopathy" RELATED [] synonym: "DESMIN-MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY" RELATED [] synonym: "desminopathy" EXACT [] synonym: "DESMINOPATHY, PRIMARY" EXACT [] synonym: "DESMIN-related myofibrillar myopathy" EXACT [] synonym: "Desmin-Related Myopathy" EXACT [] synonym: "Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy" EXACT [] synonym: "dilated cardiomyopathy 1F" EXACT [] synonym: "dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D" RELATED [] synonym: "dilated cardiomyopathy with conduction defect and muscular dystrophy" RELATED [] synonym: "DRM" EXACT [] synonym: "IBM1" EXACT [] synonym: "inclusion body myopathy 1, autosomal dominant" EXACT [] synonym: "LGMD2R" RELATED [] synonym: "limb-girdle muscular dystrophy, type 2R" RELATED [] synonym: "MFM1" EXACT [] synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" EXACT [] synonym: "proximal muscle weakness in upper limbs" NARROW [] xref: MESH:C563319 xref: MESH:C563784 xref: MIM:601419 xref: MONDO:0011076 xref: NCI:C206515 xref: ORDO:363543 xref: ORDO:98909 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0080093 name: adult-onset myofibrillar myopathy 2A def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)" [PMID:14681890 "DO"] synonym: "alpha-B crystallinopathy" EXACT [] synonym: "cardioskeletal myopathy, desmin-related, with cataract" EXACT [] synonym: "desmin-related myopathy, associated with mutation in the CRYAB gene" EXACT [] synonym: "MFM2" EXACT [] synonym: "myofibrillar myopathy 2" EXACT [] synonym: "myofibrillar myopathy, alpha-B crystallin-related" EXACT [] synonym: "myofibrillar myopathy, with or without cataract and/or cardiomyopathy" EXACT [] xref: MESH:C563848 xref: MIM:608810 xref: MONDO:0012130 xref: NCI:C206516 xref: ORDO:399058 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:83 ! cataract [Term] id: DOID:0080094 name: myofibrillar myopathy 3 alt_id: DOID:0080091 alt_id: DOID:0110300 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (DO)" [PMID:10958653 "DO", PMID:16380616 "DO", PMID:30055862 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [] synonym: "autosomal dominant spheroid body myopathy" EXACT [] synonym: "LGMD1" EXACT [] synonym: "LGMD 1A" EXACT [] synonym: "LGMD1A" EXACT [] synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [] synonym: "MFM3" EXACT [] synonym: "muscular dystrophy limb-girdle type 1A" EXACT [] synonym: "muscular dystrophy, limb-girdle, type1A" EXACT [] synonym: "muscular dystrophy, proximal, type 1A" EXACT [] synonym: "myofibrillar myopathy, myotilin-related" EXACT [] synonym: "myotilinopathy" EXACT [] synonym: "spheroid body myopathy" EXACT [] synonym: "URINARY BLADDER SPHINCTER DYSFUNCTION" NARROW [] xref: GARD:10229 xref: GARD:8711 xref: MESH:C000598645 xref: MESH:C535906 xref: MESH:C563775 xref: MIM:609200 xref: MONDO:0012215 xref: ORDO:266 xref: ORDO:268129 is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0080095 name: myofibrillar myopathy 4 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. (DO)" [PMID:17337483 "DO"] synonym: "LDB3-related condition" BROAD [] synonym: "MARKESBERY-GRIGGS DISTAL MYOPATHY" EXACT [] synonym: "MFM4" EXACT [] synonym: "zaspopathy" EXACT [] xref: MIM:609452 xref: MONDO:0012277 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080096 name: myofibrillar myopathy 5 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)" [PMID:15929027 "DO"] synonym: "filamin C-related myofibrillar myopathy" EXACT [] synonym: "filaminopathy" EXACT [] synonym: "filaminopathy, autosomal dominant" EXACT [] synonym: "FLNB-related disorders" BROAD [] synonym: "MFM5" EXACT [] synonym: "MFM, filamin C-related" EXACT [] xref: MESH:C537932 xref: MIM:609524 xref: MONDO:0012289 xref: NCI:C206670 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080097 name: myofibrillar myopathy 6 def: "A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)" [PMID:22734908 "DO"] synonym: "BAG3-related condition" BROAD [] synonym: "BAG3-related myofibrillar myopathy" EXACT [] synonym: "MFM6" EXACT [] xref: MESH:C567843 xref: MIM:612954 xref: MONDO:0013061 xref: NCI:C217088 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080098 name: myofibrillar myopathy 7 def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. (DO)" [PMID:27484770 "DO"] synonym: "KY-RELATED CONDITION" EXACT [] synonym: "MFM7" EXACT [] xref: MIM:617114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:9008941 ! Muscle Hypertonia [Term] id: DOID:0080099 name: myopathy, lactic acidosis, and sideroblastic anemia def: "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/ "DO"] synonym: "HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS" EXACT [] synonym: "Mitochondrial myopathy and sideroblastic anemia" EXACT [] synonym: "MLASA" EXACT [] xref: MESH:C536101 xref: MIM:PS600462 xref: ORDO:2598 is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0080101 name: Compton-North congenital myopathy def: "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. (DO)" [PMID:19026398 "DO"] synonym: "CMYO12" EXACT [] synonym: "CMYP12" EXACT [] synonym: "CNTN1-RELATED CONDITION" EXACT [] synonym: "congenital myopathy 12" EXACT [] synonym: "MYPCN" EXACT [] xref: MESH:C567261 xref: MIM:612540 xref: MONDO:0012929 xref: ORDO:210163 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0080102 name: congenital myopathy 4A def: "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion "DO"] synonym: "CFTD" EXACT [] synonym: "CMYO4A" EXACT [] synonym: "congenital fiber-type disproportion" EXACT [] synonym: "congenital myopathy 4A, autosomal dominant" EXACT [] synonym: "congenital myopathy with fiber-type disproportion" EXACT [] synonym: "SEPN1-related disorders" EXACT [] synonym: "SEVERE NEONATAL HYPOTONIA IMPROVING WITH AGE" EXACT [] xref: MIM:255310 xref: MONDO:0800341 xref: NCI:C120046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:0080103 name: cylindrical spirals myopathy alt_id: MIM:160990 def: "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. (DO)" [https://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy "DO"] synonym: "myotonic myopathy with cylindrical spirals" EXACT [] xref: GARD:11906 xref: MESH:C563535 is_a: DOID:0081337 ! congenital myopathy is_a: DOID:450 ! myotonic disease [Term] id: DOID:0080105 name: microcephaly and chorioretinopathy 1 def: "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)" [PMID:25344692 "DO"] synonym: "MCCRP1" EXACT [] synonym: "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1" EXACT [] synonym: "microcephaly and chorioretinopathy with or without mental retardation" EXACT [] synonym: "Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive" EXACT [] synonym: "microcephaly with chorioretinopathy, autosomal recessive" EXACT [] synonym: "TUBGCP6-RELATED CONDITION" EXACT [] xref: MESH:C565379 xref: MIM:251270 xref: MONDO:0009624 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy [Term] id: DOID:0080106 name: microcephaly and chorioretinopathy 2 def: "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. (DO)" [PMID:25344692 "DO"] synonym: "MCCRP2" EXACT [] synonym: "Microcephaly and Chorioretinopathy, Autosomal Recessive, 2" EXACT [] synonym: "PLK4-related condition" BROAD [] xref: MIM:616171 xref: MONDO:0014516 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy created_by: rgd creation_date: 2017-05-08T00:00:00Z [Term] id: DOID:0080107 name: microcephaly and chorioretinopathy 3 def: "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)" [PMID:25344692 "DO"] synonym: "AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME" EXACT [] synonym: "MCCRP3" EXACT [] synonym: "Microcephaly and Chorioretinopathy, Autosomal Recessive, 3" EXACT [] synonym: "TUBGCP4-RELATED CONDITION" EXACT [] xref: MIM:616335 xref: MONDO:0014592 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy created_by: rgd creation_date: 2015-07-16T00:00:00Z [Term] id: DOID:0080108 name: myoglobinuria alt_id: DOID:9005068 def: "A myopathy that is characterized by an increased urinary excretion of myoglobin. (DO)" [https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false "DO", PMID:9098484 "DO"] synonym: "myoglobinurias" EXACT [] xref: MESH:D009212 is_a: DOID:423 ! myopathy is_a: DOID:9000884 ! Rhabdomyolysis [Term] id: DOID:0080109 name: infantile myofibromatosis def: "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. (DO)" [https://en.wikipedia.org/wiki/Infantile_myofibromatosis "DO", PMID:23731542 "DO"] synonym: "CGF" EXACT [] synonym: "congenital generalized fibromatosis" EXACT [] synonym: "juvenile myofibromatosis" EXACT [] xref: GARD:2998 xref: MESH:C562978 xref: MIM:PS228550 xref: MONDO:0016824 xref: ORDO:2591 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:9003564 ! Myofibromatosis created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0080110 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome alt_id: DOID:9000643 alt_id: MIM:265000 def: "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (DO)" [http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/ "DO", https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome "DO", https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome "DO", PMID:25957469 "DO"] synonym: "CHRNG-ASSOCIATED HYPO-AKINESIA DISORDER OF PRENATAL ONSET" NARROW [] synonym: "CHRNG-RELATED CONDITION" BROAD [] synonym: "CHRNG-related disorder" BROAD [] synonym: "Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes" EXACT [] synonym: "Escobar syndrome" EXACT [] synonym: "EVMPS" EXACT [] synonym: "familial pterygium syndrome" EXACT [] synonym: "multiple pterygium syndrome" EXACT [] synonym: "multiple pterygium syndrome, Escobar type" EXACT [] synonym: "multiple pterygium syndrome, Escobar variant" EXACT [] synonym: "multiple pterygium syndrome, nonlethal type" EXACT [] synonym: "pterygium colli syndrome" EXACT [] synonym: "pterygium syndrome" EXACT [] synonym: "pterygium universale" EXACT [] xref: MESH:C537377 xref: MIM:PS178110 is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:8545 ! malignant hyperthermia is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080111 name: mitochondrial complex III deficiency nuclear type 1 alt_id: MIM:124000 def: "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. (DO)" [MIM:124000 "DO"] synonym: "BCS1L-related disorder" BROAD [] synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX III" BROAD [] synonym: "MC3DN1" EXACT [] xref: MESH:C565128 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080112 name: mitochondrial complex III deficiency nuclear type 3 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. (DO)" [MIM:615158 "DO"] synonym: "MC3DN3" EXACT [] synonym: "UQCRB-related condition" BROAD [] xref: MIM:615158 xref: MONDO:0014064 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080113 name: mitochondrial complex III deficiency nuclear type 4 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. (DO)" [MIM:615159 "DO"] synonym: "MC3DN4" EXACT [] synonym: "UQCRQ-RELATED CONDITION" EXACT [] xref: MIM:615159 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080114 name: mitochondrial complex III deficiency nuclear type 5 def: "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. (DO)" [MIM:615160 "DO"] synonym: "MC3DN5" EXACT [] synonym: "UQCRC2-RELATED CONDITION" EXACT [] xref: MIM:615160 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080115 name: mitochondrial complex III deficiency nuclear type 6 def: "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. (DO)" [MIM:615453 "DO"] synonym: "CYC1-RELATED CONDITION" EXACT [] synonym: "MC3DN6" EXACT [] xref: MIM:615453 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080116 name: mitochondrial complex III deficiency nuclear type 7 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. (DO)" [MIM:615824 "DO"] synonym: "MC3DN7" EXACT [] xref: MIM:615824 xref: MONDO:0014356 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: rgd creation_date: 2017-05-10T00:00:00Z [Term] id: DOID:0080117 name: mitochondrial complex III deficiency nuclear type 8 def: "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. (DO)" [MIM:615838 "DO"] synonym: "LYRM7-related condition" BROAD [] synonym: "MC3DN8" EXACT [] xref: MIM:615838 xref: MONDO:0014364 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080118 name: mitochondrial complex III deficiency nuclear type 9 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. (DO)" [MIM:616111 "DO"] synonym: "MC3DN9" EXACT [] synonym: "UQCC3-related condition" BROAD [] xref: MIM:616111 xref: MONDO:0014496 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: rgd creation_date: 2017-05-10T00:00:00Z [Term] id: DOID:0080119 name: mitochondrial DNA depletion syndrome 1 def: "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO", https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease "DO", MIM:603041 "DO", PMID:19056268 "DO", PMID:20301358 "DO"] synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related" EXACT [] synonym: "MNGIE, TYMP-related" EXACT [] synonym: "MTDPS1" EXACT [] synonym: "TYMP-related condition" BROAD [] xref: GARD:9920 xref: MIM:603041 xref: MONDO:0011283 xref: NCI:C119678 xref: ORDO:298 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type [Term] id: DOID:0080120 name: mitochondrial DNA depletion syndrome 2 def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (DO)" [https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form "DO", PMID:2881246 "DO", PMID:29735374 "DO"] synonym: "mitochondrial DNA depletion myopathy, TK2-related" EXACT [] synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" EXACT [] synonym: "MTDPS2" EXACT [] synonym: "TK2-RELATED CONDITION" BROAD [] synonym: "TK2-related mitochondrial DNA depletion syndrome, myopathic form" EXACT [] xref: MIM:609560 xref: NCI:C185236 xref: ORDO:254875 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002774 ! Mitochondrial DNA Depletion Syndrome, Myopathic Form [Term] id: DOID:0080121 name: mitochondrial DNA depletion syndrome 3 def: "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency "DO", PMID:24423689 "DO", PMID:30589726 "DO"] synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 3, hepatocerebral" EXACT [] synonym: "MTDPS3" EXACT [] xref: GARD:13644 xref: MIM:251880 xref: MONDO:0009636 xref: ORDO:279934 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:13413 ! hepatic encephalopathy [Term] id: DOID:0080122 name: Alpers-Huttenlocher syndrome alt_id: DOID:1442 def: "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome "DO", PMID:30103161 "DO", PMID:30451971 "DO"] synonym: "Alper's disease" EXACT [] synonym: "Alper's syndrome" EXACT [] synonym: "Alper disease" EXACT [] synonym: "Alpers' disease or gray-matter degeneration" EXACT [] synonym: "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis" EXACT [] synonym: "Alpers disease" EXACT [] synonym: "Alpers progressive infantile poliodystrophy" EXACT [] synonym: "Alpers syndrome" EXACT [] synonym: "Alper syndrome" EXACT [] synonym: "diffuse cerebral sclerosis" EXACT [] synonym: "Diffuse Cerebral Sclerosis of Schilder" EXACT [] synonym: "Encephalitis Periaxialis" EXACT [] synonym: "Encephalitis Periaxialis Concentrica" EXACT [] synonym: "encephalitis periaxialis diffusa" EXACT [] synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [] synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" EXACT [] synonym: "MTDPS4A" EXACT [] synonym: "myelinoclastic diffuse sclerosis" EXACT [] synonym: "PNDC" EXACT [] synonym: "Polg disease" EXACT [] synonym: "poliodystrophia cerebri" EXACT [] synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT [] synonym: "progressive sclerosing poliodystrophy" EXACT [] synonym: "Schilder's disease" EXACT [] synonym: "Schilder disease" EXACT [] synonym: "Schilders disease" EXACT [] synonym: "sudanophilic cerebral sclerosis" EXACT [] xref: GARD:5783 xref: ICD10CM:G31.81 xref: MESH:D002549 xref: MIM:203700 xref: MONDO:0008758 xref: NCI:C35257 xref: ORDO:726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:1443 ! cerebral degeneration is_a: DOID:5082 ! liver cirrhosis is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080123 name: mitochondrial DNA depletion syndrome 4B def: "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO", PMID:30385167 "DO", PMID:30395865 "DO"] synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related" EXACT [] synonym: "MNGIE, POLG-related" EXACT [] synonym: "MTDPS4B" EXACT [] xref: MIM:613662 xref: MONDO:0013350 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type [Term] id: DOID:0080124 name: mitochondrial DNA depletion syndrome 5 alt_id: MIM:612073 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency "DO", PMID:24986829 "DO", PMID:26952923 "DO"] synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" EXACT [] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive" EXACT [] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related" EXACT [] synonym: "MTDPS5" EXACT [] synonym: "SUCLA2-RELATED CONDITION" EXACT [] xref: MESH:C567624 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080125 name: mitochondrial DNA depletion syndrome 6 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome "DO", PMID:29282788 "DO", PMID:30298599 "DO"] synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT [] synonym: "MPV17-associated hepatocerebral MDS" EXACT [] synonym: "MPV17-related condition" BROAD [] synonym: "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" EXACT [] synonym: "MPV17-RELATED MITOCHONDRIAL DNA MAINTENANCE DEFECT" EXACT [] synonym: "MTDPS6" EXACT [] synonym: "Navajo familial neurogenic arthropathy" EXACT [] synonym: "Navajo neurohepatopathy" EXACT [] synonym: "Navajo neuropathy" EXACT [] synonym: "NN" EXACT [] synonym: "NNH" EXACT [] xref: GARD:3972 xref: MESH:C538344 xref: MIM:256810 xref: MONDO:0009747 xref: ORDO:255229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:409 ! liver disease is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0080126 name: mitochondrial DNA depletion syndrome 7 alt_id: DOID:0050556 alt_id: MIM:271245 alt_id: RDO:0000683 alt_id: RDO:0008489 alt_id: RDO:9004561 def: "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. (DO)" [https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia "DO", PMID:18775955 "DO", PMID:30391088 "DO"] synonym: "infantile onset spinocerebellar ataxia" EXACT [] synonym: "IOSCA" EXACT [] synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" EXACT [] synonym: "MITOCHONDRIAL HEPATOPATHY" EXACT [] synonym: "MTDPS7" EXACT [] synonym: "OHAHA syndrome" EXACT [] synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" EXACT [] synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" EXACT [] synonym: "SCA8 (formerly)" RELATED [] synonym: "spinocerebellar ataxia 8 (formerly)" RELATED [] synonym: "spinocerebellar ataxia infantile with sensory neuropathy" EXACT [] xref: GARD:4062 xref: MESH:C535523 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:9003453 ! Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive [Term] id: DOID:0080127 name: mitochondrial DNA depletion syndrome 8A def: "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy "DO", PMID:24741716 "DO", PMID:30439532 "DO"] synonym: "encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy, autosomal recessive" NARROW [] synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" EXACT [] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive" EXACT [] synonym: "mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy disease" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome" EXACT [] synonym: "mitochondrial neurogastrointestinal syndrome" NARROW [] synonym: "MNGIE Disease" EXACT [] synonym: "MNGIE, RRM2B-related" NARROW [] synonym: "MNGIE without leukoencephalopathy" EXACT [] synonym: "MTDPS8A" EXACT [] synonym: "oculogastrointestinal muscular dystrophy" EXACT [] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" EXACT [] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" EXACT [] synonym: "RRM2B-related mitochondrial disease" BROAD [] synonym: "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [] synonym: "thymidine phosphorylase deficiency" EXACT [] xref: GARD:13200 xref: MIM:612075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:225 ! syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type [Term] id: DOID:0080128 name: mitochondrial DNA depletion syndrome 9 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency "DO", PMID:28215579 "DO", PMID:29217198 "DO"] synonym: "fatal infantile lactic acidosis" EXACT [] synonym: "Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type with Methylmalonic Aciduria)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)" EXACT [] synonym: "MTDPS9" EXACT [] synonym: "SUCLG1-RELATED CONDITION" EXACT [] xref: MESH:C566885 xref: MIM:245400 xref: MONDO:0009504 xref: NCI:C183531 xref: ORDO:17 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:3650 ! lactic acidosis is_a: DOID:9007007 ! Succinate-Coa Ligase Deficiency [Term] id: DOID:0080129 name: mitochondrial DNA depletion syndrome 11 alt_id: RDO:9000571 def: "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (DO)" [PMID:23313956 "DO", PMID:28215579 "DO"] synonym: "MGME1-RELATED CONDITION" EXACT [] synonym: "MTDPS11" EXACT [] synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" EXACT [] xref: MIM:615084 xref: ORDO:352447 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080130 name: mitochondrial DNA depletion syndrome 12a def: "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (DO)" [PMID:27693233 "DO"] synonym: "autosomal dominant mitochondrial DNA depletion syndrome-12A" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12" BROAD [] synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" EXACT [] synonym: "MTDPS12" BROAD [] synonym: "MTDPS12A" EXACT [] xref: MIM:617184 xref: MONDO:0014959 xref: NCI:C129977 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080131 name: mitochondrial DNA depletion syndrome 13 def: "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. (DO)" [https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome "DO", PMID:26404457 "DO", PMID:28215579 "DO", PMID:28940506 "DO"] synonym: "FBXL4 deficiency" EXACT [] synonym: "FBXL4-related condition" EXACT [] synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" EXACT [] synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" EXACT [] synonym: "MTDPS13" EXACT [] xref: GARD:13298 xref: MIM:615471 xref: MONDO:0014198 xref: NCI:C172095 xref: ORDO:369897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0080132 name: Sengers syndrome def: "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (DO)" [https://en.wikipedia.org/wiki/Sengers_syndrome "DO", PMID:28712724 "DO", PMID:29682452 "DO"] synonym: "AGK-related disorder" NARROW [] synonym: "AGK-related disorders" NARROW [] synonym: "cataract and cardiomyopathy" EXACT [] synonym: "mitochondrial DNA depletion syndrome 10" EXACT [] synonym: "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" EXACT [] synonym: "MTDPS10" EXACT [] xref: GARD:1142 xref: MESH:C538280 xref: MIM:212350 xref: MONDO:0008922 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:83 ! cataract [Term] id: DOID:0080133 name: multiple mitochondrial dysfunctions syndrome 1 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", PMID:22077971 "DO", PMID:28470589 "DO", PMID:29441221 "DO"] synonym: "MMDS1" EXACT [] synonym: "NFU1 deficiency" EXACT [] synonym: "NFU1-RELATED CONDITION" EXACT [] xref: MIM:605711 xref: MONDO:0011582 xref: ORDO:401869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080134 name: multiple mitochondrial dysfunctions syndrome 2 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", PMID:22562699 "DO", PMID:24334290 "DO", PMID:29654549 "DO"] synonym: "BOLA3 deficiency" EXACT [] synonym: "MMDS2" EXACT [] synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" EXACT [] xref: MIM:614299 xref: MONDO:0013675 xref: ORDO:401874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome is_a: DOID:9268 ! glycine encephalopathy [Term] id: DOID:0080135 name: multiple mitochondrial dysfunctions syndrome 3 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. (DO)" [PMID:27785568 "DO", PMID:28671726 "DO", PMID:28913435 "DO"] synonym: "IBA57 deficiency" EXACT [] synonym: "MMDS3" EXACT [] xref: MIM:615330 xref: ORDO:363424 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080136 name: multiple mitochondrial dysfunctions syndrome 4 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)" [PMID:25539947 "DO", PMID:29122497 "DO", PMID:29297947 "DO", PMID:29359243 "DO"] synonym: "ISCA2-RELATED CONDITION" EXACT [] synonym: "MMDS4" EXACT [] xref: MIM:616370 xref: ORDO:457406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0080137 name: multiple endocrine neoplasia type 4 alt_id: MIM:610755 def: "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO"] synonym: "MEN4" EXACT [] synonym: "multiple endocrine neoplasia, type IV" EXACT [] xref: MESH:C567059 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:0080138 name: multiple congenital anomalies-hypotonia-seizures syndrome 1 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)" [PMID:21493957 "DO"] synonym: "glycosylphosphatidylinositol biosynthesis defect 3" EXACT [] synonym: "GPIBD3" EXACT [] synonym: "MCAHS1" EXACT [] xref: MIM:614080 xref: MONDO:0013563 xref: NCI:C176896 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome [Term] id: DOID:0080139 name: multiple congenital anomalies-hypotonia-seizures syndrome 2 alt_id: DOID:0080466 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)" [PMID:10441586 "DO", PMID:22305531 "DO"] synonym: "DEE20" EXACT [] synonym: "developmental and epileptic encephalopathy 20" EXACT [] synonym: "early infantile epileptic encephalopathy 20" EXACT [] synonym: "EIEE20" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [] synonym: "GPIBD4" EXACT [] synonym: "MCAHS2" EXACT [] xref: GARD:12777 xref: MIM:300868 xref: ORDO:300496 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080140 name: multiple congenital anomalies-hypotonia-seizures syndrome 3 alt_id: DOID:9001439 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (DO)" [PMID:21493957 "DO", PMID:36177944 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7" EXACT [] synonym: "GPIBD7" EXACT [] synonym: "Light Fixation Seizure Syndrome" EXACT [] synonym: "MCAHS3" EXACT [] synonym: "M Syndrome" EXACT [] synonym: "PIGT-RELATED DISORDER" BROAD [] xref: MESH:C566367 xref: MIM:615398 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080141 name: mosaic variegated aneuploidy syndrome 1 def: "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)" [https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "DO"] synonym: "chromosomal mosaicism due to mitotic instability" EXACT [] synonym: "instability mitotic non disjunction syndrome" EXACT [] synonym: "MVA1" EXACT [] synonym: "MVA syndrome" EXACT [] xref: MIM:257300 xref: MONDO:0009759 xref: NCI:C128192 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080142 name: mosaic variegated aneuploidy syndrome 2 def: "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. (DO)" [PMID:21552266 "DO"] synonym: "CEP57-RELATED CONDITION" EXACT [] synonym: "MVA2" EXACT [] xref: MIM:614114 xref: NCI:C168989 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080143 name: congenital fibrosis of the extraocular muscles def: "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms "DO", https://www.ncbi.nlm.nih.gov/books/NBK1348/ "DO"] synonym: "CFEOM" EXACT [] synonym: "congenital external ophthalmoplegia" EXACT [] synonym: "congenital fibrosis of extraocular muscles" EXACT [] synonym: "congenital fibrosis syndrome" EXACT [] synonym: "congenital ophthalmoplegia" EXACT [] synonym: "general fibrosis syndrome" EXACT [] xref: EFO:1001985 xref: GARD:12590 xref: MESH:C580012 xref: MIM:PS135700 xref: ORDO:45358 is_a: DOID:0080015 ! physical disorder is_a: DOID:1279 ! ocular motility disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:0080144 name: childhood acute lymphocytic leukemia def: "An acute lymphocytic leukemia occurring during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null "DO"] synonym: "childhood acute lymphoblastic leukemia" EXACT [] synonym: "childhood ALL" EXACT [] xref: ICD-O:M9835/3 xref: MONDO:0000870 xref: NCI:C3168 is_a: DOID:7757 ! childhood leukemia is_a: DOID:9952 ! acute lymphoblastic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080145 name: childhood T-cell acute lymphoblastic leukemia alt_id: DOID:7933 def: "A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 "DO"] synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [] synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [] xref: EFO:0000207 xref: EFO:1001947 xref: ICD-O:M9831/3 xref: ICD-O:M9837/3 xref: MONDO:0044917 xref: NCI:C5640 xref: NCI:C7953 is_a: DOID:0080144 ! childhood acute lymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080146 name: childhood B-cell acute lymphoblastic leukemia def: "A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 "DO"] xref: EFO:1001946 xref: ICD-O:M9836/3 xref: MONDO:0000872 xref: NCI:C9140 is_a: DOID:0080144 ! childhood acute lymphocytic leukemia is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080147 name: lymphoblastic lymphoma def: "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7055 "DO"] xref: GARD:3329 xref: NCI:C9360 xref: RDO:9002205 is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080148 name: T-cell childhood lymphoblastic lymphoma def: "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. (DO)" [https://www.dana-farber.org/cancer-care/types/childhood-lymphoblastic-lymphoma "DO"] synonym: "childhood T lymphoblastic lymphoma" EXACT [] xref: EFO:1001948 xref: ICD-O:M9729/3 xref: NCI:C7210 is_a: DOID:0080147 ! lymphoblastic lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080149 name: adult acute monocytic leukemia def: "An acute monocytic leukemia occurring in adults. (DO)" [https://en.wikipedia.org/wiki/Acute_monocytic_leukemia "DO"] xref: EFO:1001933 xref: NCI:C8263 is_a: DOID:8864 ! acute monocytic leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0080150 name: adrenocorticotropic hormone deficiency alt_id: MIM:201400 def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. (DO)" [https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency "DO", PMID:27041067 "DO"] synonym: "ACTH deficiency" EXACT [] synonym: "IAD" EXACT [] synonym: "isolated ACTH deficiency" EXACT [] synonym: "TBX19-RELATED CONDITION" EXACT [] xref: EFO:1001979 xref: MESH:C535668 xref: MESH:C562707 is_a: DOID:630 ! genetic disease is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:9406 ! hypopituitarism is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0080153 name: medium chain acyl-CoA dehydrogenase deficiency def: "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)" [http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/ "DO", https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency "DO"] synonym: "ACADMD" EXACT [] synonym: "ACADM deficiency" EXACT [] synonym: "Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of" EXACT [] synonym: "Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency" EXACT [] synonym: "MCAD Deficiency" EXACT [] synonym: "MCAD deficiency, modifier of" RELATED [] synonym: "MCADH Deficiency" EXACT [] synonym: "medium-chain acyl-coenzyme A dehydrogenase deficiency" EXACT [] xref: GARD:540 xref: MESH:C536038 xref: MIM:201450 xref: MONDO:0008721 xref: NCI:C84538 xref: ORDO:42 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080154 name: short chain acyl-CoA dehydrogenase deficiency def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)" [http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/ "DO"] synonym: "ACADSD" EXACT [] synonym: "Acads Deficiency" EXACT [] synonym: "ACADS-related condition" BROAD [] synonym: "Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of" EXACT [] synonym: "Deficiency of Butyryl-Coa Dehydrogenase" EXACT [] synonym: "Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency" EXACT [] synonym: "Scad Deficiency" EXACT [] synonym: "Scadh Deficiency" EXACT [] synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [] xref: GARD:4822 xref: MESH:C537596 xref: MIM:201470 xref: MONDO:0008722 xref: NCI:C84539 xref: ORDO:26792 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080155 name: very long chain acyl-CoA dehydrogenase deficiency alt_id: MIM:201475 alt_id: OMIA:002140 def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)" [http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ "DO", https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency "DO"] synonym: "ACADVL" EXACT [] synonym: "ACADVLD" EXACT [] synonym: "ACADVL-RELATED DISORDER" EXACT [] synonym: "deficiency of very long-chain Acyl-CoA dehydrogenase" EXACT [] synonym: "exercise induced metabolic myopathy" RELATED [] synonym: "very long-chain Acyl Coenzyme A dehydrogenase deficiency" EXACT [] synonym: "VLCAD-C" EXACT [] synonym: "VLCAD deficiency" EXACT [] synonym: "VLCAD-H" EXACT [] xref: GARD:5508 xref: MESH:C536353 xref: NCI:C98647 xref: ORDO:26793 is_a: DOID:0080000 ! muscular disease is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0080156 name: X-linked adrenal hypoplasia congenita alt_id: MIM:300200 def: "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1431/ "DO", https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes "DO", PMID:27376611 "DO"] synonym: "adrenal hypoplasia congenita" EXACT [] synonym: "AHC" EXACT [] synonym: "AHCH" EXACT [] synonym: "AHC WITH HHG" EXACT [] synonym: "AHC with isolated gonadotropin deficiency" EXACT [] synonym: "AHX" EXACT [] synonym: "congenital adrenal hypoplasia" EXACT [] synonym: "congenital adrenal hypoplasia with hypogonadotropic hypogonadism" EXACT [] synonym: "cytomegalic adrenocortical hypoplasia" EXACT [] synonym: "X-linked Addison disease" EXACT [] synonym: "X-linked congenital adrenal hypoplasia" EXACT [] xref: GARD:555 xref: MESH:C536757 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10493 ! adrenal cortical hypofunction is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0080158 name: herpes simplex virus keratitis def: "A keratitis that has_material_basis_in herpes simplex type infection. (DO)" [http://www.aao.org/eye-health/diseases/herpes-keratitis "DO"] synonym: "herpes simplex keratitides" EXACT [] synonym: "Herpes Simplex Keratitis" EXACT [] synonym: "Herpetic Stromal Keratitis" RELATED [] synonym: "HSK" RELATED [] synonym: "Keratitis, Herpetic" EXACT [] synonym: "ocular herpes simplex" EXACT [] xref: EFO:0007308 xref: MESH:D016849 xref: MONDO:0015288 is_a: DOID:4677 ! keratitis is_a: DOID:8566 ! herpes simplex is_a: DOID:9005295 ! Viral Eye Infections [Term] id: DOID:0080159 name: cryptococcal meningitis def: "A fungal meningitis that has_material_basis_in Crypococcus fungal infection. (DO)" [https://medlineplus.gov/ency/article/000642.htm "DO"] synonym: "cerebral cryptococcoses" EXACT [] synonym: "Cerebral Cryptococcosis" EXACT [] synonym: "Cryptococcal Meningitides" EXACT [] synonym: "Granulomous Cerebral Cryptococcoses" EXACT [] synonym: "Granulomous Cerebral Cryptococcosis" EXACT [] synonym: "Toruloma" EXACT [] synonym: "torulomas" EXACT [] xref: EFO:0007228 xref: MESH:D016919 is_a: DOID:11608 ! fungal meningitis is_a: DOID:12053 ! cryptococcosis [Term] id: DOID:0080160 name: cytomegalovirus retinitis def: "A retinitis that has_material_basis_in Cytomegalovirus. (DO)" [https://medlineplus.gov/ency/article/000665.htm "DO"] synonym: "CMV retinitis" EXACT [] synonym: "cytomegaloviral retinitis" EXACT [] xref: EFO:1001302 xref: GARD:9531 xref: MESH:D017726 is_a: DOID:3612 ! retinitis is_a: DOID:9005295 ! Viral Eye Infections is_a: DOID:9006262 ! Cytomegalovirus Infections [Term] id: DOID:0080161 name: cutaneous candidiasis def: "A candidiasis that is characterized by Candida infection located_in the skin. (DO)" [https://medlineplus.gov/ency/article/000880.htm "DO"] synonym: "cutaneous candidiases" EXACT [] synonym: "cutaneous moniliases" EXACT [] synonym: "cutaneous moniliasis" EXACT [] xref: MESH:D002179 is_a: DOID:1508 ! candidiasis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:0080162 name: lupus nephritis alt_id: DOID:9004124 def: "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. (DO)" [https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1 "DO", https://medlineplus.gov/ency/article/000481.htm "DO"] synonym: "Lupus Glomerulonephritides" EXACT [] synonym: "Lupus Glomerulonephritis" EXACT [] synonym: "Lupus Nephritides" EXACT [] synonym: "lupus nephritis, susceptibility to" RELATED [] synonym: "SLEN1" RELATED [] synonym: "SLEN2" RELATED [] synonym: "SLEN3" RELATED [] synonym: "SLE nephritis" EXACT [] synonym: "Systemic Lupus Erythematosus with Nephritis" EXACT [] synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 1" RELATED [] synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 2" RELATED [] synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 3" RELATED [] xref: EFO:0005761 xref: GARD:10747 xref: MESH:D008181 xref: MIM:607965 xref: MIM:607966 xref: MIM:607967 is_a: DOID:10952 ! nephritis is_a: DOID:2921 ! glomerulonephritis is_a: DOID:9074 ! systemic lupus erythematosus [Term] id: DOID:0080163 name: autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome def: "An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15. (DO)" [https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease "DO", PMID:27523608 "DO", PMID:27559085 "DO"] comment: Initially, this term was used only for the autosomal recessive disease but, in 2024, a new autosomal dominant form was identified and its use broadened to encompass both [JAB, 2025-07-31] synonym: "AIPDS" EXACT [] synonym: "AIPDSB" EXACT [] synonym: "autoinflammation, panniculitis and dermatosis syndrome" RELATED [] synonym: "infantile-onset periodic fever-panniculitis-dermatosis syndrome" EXACT [] synonym: "ORAS" EXACT [] synonym: "OTULIN-autoinflammatory syndrome" EXACT [] synonym: "OTULIN-related autoinflammatory syndrome" EXACT [] synonym: "OTULIN-related condition" BROAD [] synonym: "otulipenia" EXACT [] xref: GARD:13198 xref: MIM:617099 xref: MONDO:0014912 xref: NCI:C174441 xref: ORDO:500062 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0061170 ! autoinflammation, panniculitis, and dermatosis syndrome is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:0080164 name: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 def: "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. (DO)" [PMID:19357394 "DO", PMID:23489324 "DO"] synonym: "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT [] synonym: "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [] xref: NCI:C84270 is_a: DOID:0070004 ! myeloid neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080165 name: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null "DO"] synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [] xref: NCI:C84275 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080166 name: myeloid and lymphoid neoplasms associated with PDGFRB rearrangement def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null "DO"] synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT [] synonym: "myeloid neoplasms associated with PDGFRB rearrangement" EXACT [] xref: NCI:C84276 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080167 name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null "DO"] xref: NCI:C84277 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080169 name: tricuspid atresia alt_id: MIM:605067 def: "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. (DO)" [https://medlineplus.gov/ency/article/001110.htm "DO"] synonym: "Absent Right Atrioventricular Connection" EXACT [] synonym: "tricuspid atresias" EXACT [] synonym: "Tricuspid Valve Atresia" EXACT [] synonym: "tricuspid valve atresias" EXACT [] xref: GARD:5274 xref: MESH:D018785 xref: NCI:C85202 is_a: DOID:0050826 ! tricuspid valve disease is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0080170 name: normophosphatemic familial tumoral calcinosis alt_id: MIM:610455 def: "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. (DO)" [https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis "DO", PMID:21160498 "DO"] synonym: "familial tumoral calcinosis" BROAD [] synonym: "NFTC" EXACT [] synonym: "tumoral calcinosis with normophosphatemia" EXACT [] xref: GARD:10878 xref: MESH:C566473 is_a: DOID:182 ! calcinosis [Term] id: DOID:0080171 name: esophageal atresia/tracheoesophageal fistula alt_id: MIM:189960 def: "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. (DO)" [https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula "DO"] synonym: "Ea-Tef" EXACT [] synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [] synonym: "esophageal atresia with or without tracheoesophageal fistula" EXACT [] synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [] xref: GARD:7792 xref: MESH:C531835 is_a: DOID:10485 ! esophageal atresia is_a: DOID:9008498 ! Tracheoesophageal Fistula [Term] id: DOID:0080172 name: poor metabolism of thiopurines def: "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. (DO)" [https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics "DO"] synonym: "6 alpha mercaptopurine sensitivity" EXACT [] synonym: "azathioprine intolerance" RELATED [] synonym: "thiopurine methyltransferase deficiency" EXACT [] synonym: "thiopurine S-methyltransferase deficiency" EXACT [] synonym: "TPMTD" EXACT [] synonym: "TPMT deficiency" EXACT [] xref: MESH:C536512 xref: MIM:PS610460 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060500 ! drug allergy is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080173 name: bladder exstrophy-epispadias-cloacal exstrophy complex alt_id: MIM:258040 def: "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. (DO)" [https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO", PMID:22055685 "DO"] synonym: "Bladder Exstrophy and Epispadias Complex" EXACT [] synonym: "exstrophy-epispadias complex" EXACT [] xref: MESH:C564009 xref: ORDO:322 is_a: DOID:0080015 ! physical disorder is_a: DOID:9000336 ! Epispadias [Term] id: DOID:0080174 name: bladder exstrophy alt_id: MIM:600057 def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. (DO)" [https://en.wikipedia.org/wiki/Bladder_exstrophy "DO", https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO", PMID:21929991 "DO", PMID:22055685 "DO"] synonym: "bladder exstrophies" EXACT [] synonym: "bladder extrophies" EXACT [] synonym: "bladder extrophy" EXACT [] synonym: "exstrophy of bladder" EXACT [] synonym: "exstrophy of the bladder" EXACT [] synonym: "urinary bladder exstrophies" EXACT [] synonym: "urinary bladder exstrophy" EXACT [] xref: ICD10CM:Q64.10 xref: ICD9CM:753.5 xref: MESH:D001746 xref: MONDO:0010805 xref: ORDO:93930 is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex is_a: DOID:365 ! bladder disease [Term] id: DOID:0080175 name: cloacal exstrophy def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. (DO)" [https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO"] xref: ORDO:93929 is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex [Term] id: DOID:0080176 name: meningococcal meningitis def: "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. (DO)" [http://www.who.int/mediacentre/factsheets/fs141/en/ "DO", https://en.wikipedia.org/wiki/Meningococcal_disease "DO", https://www.cdc.gov/meningococcal/about/symptoms.html "DO"] synonym: "meningococcal meningitis, serogroup A" NARROW [] synonym: "meningococcal meningitis, serogroup B" NARROW [] synonym: "meningococcal meningitis, serogroup C" NARROW [] synonym: "meningococcal meningitis, serogroup W 135" NARROW [] synonym: "meningococcal meningitis, serogroup W135" NARROW [] synonym: "meningococcal meningitis, serogroup Y" NARROW [] synonym: "meningococcic meningitis" EXACT [] xref: EFO:1001040 xref: ICD10CM:A39.0 xref: ICD9CM:036.0 xref: MESH:D008585 is_a: DOID:9008366 ! Meningococcal Infections is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:0080177 name: hepatic veno-occlusive disease def: "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. (DO)" [https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease "DO"] synonym: "hepatic veno-occlusive diseases" EXACT [] synonym: "sinusoidal obstruction syndrome" EXACT [] xref: GARD:13004 xref: ICD10CM:K76.5 xref: MESH:D006504 xref: MONDO:0019514 is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9004096 ! Veno-Occlusive Disease [Term] id: DOID:0080178 name: mucositis def: "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. (DO)" [https://en.wikipedia.org/wiki/Mucositis "DO"] synonym: "chemotherapy-induced gut toxicity" NARROW [] synonym: "chemotherapy-induced mucositis" NARROW [] synonym: "CIGT" NARROW [] synonym: "CIM" NARROW [] synonym: "mucositides" EXACT [] xref: EFO:1001880 xref: EFO:1001898 xref: MESH:D052016 is_a: DOID:2326 ! gastroenteritis is_a: DOID:403 ! mouth disease [Term] id: DOID:0080179 name: haemophilus meningitis def: "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. (DO)" [https://en.wikipedia.org/wiki/Haemophilus_meningitis "DO"] synonym: "Haemophilus influenzae meningitis" EXACT [] synonym: "Haemophilus influenzae Meningitis Type B" EXACT [] synonym: "Haemophilus Meningitides" EXACT [] synonym: "Haemophilus parainfluenzae Meningitides" EXACT [] synonym: "Haemophilus parainfluenzae Meningitis" EXACT [] synonym: "Hemophilus influenzae Meningitis Type B" EXACT [] synonym: "Hemophilus Meningitides" EXACT [] synonym: "Hemophilus Meningitis" EXACT [] synonym: "HiB Meninigitis" EXACT [] synonym: "Meningitis, Haemophilus influenzae Type F" EXACT [] synonym: "Meningitis, Hemophilus influenzae Type F" EXACT [] xref: EFO:1000955 xref: ICD10CM:G00.0 xref: ICD9CM:320.0 xref: MESH:D008583 is_a: DOID:9000109 ! Haemophilus Infections is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:0080180 name: Zika virus congenital syndrome def: "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5823548/ "DO", https://www.cdc.gov/zika/czs/index.html "DO", https://www.who.int/news-room/fact-sheets/detail/zika-virus "DO"] synonym: "congenital Zika syndrome" EXACT [] synonym: "ZIKV congenital infection" EXACT [] xref: MONDO:0000890 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080181 name: PHARC syndrome alt_id: MIM:612674 def: "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. (DO)" [PMID:24697911 "DO"] synonym: "ABHD12-RELATED CONDITION" EXACT [] synonym: "PHARC" EXACT [] synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [] synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC)" EXACT [] synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [] xref: MESH:C567203 xref: NCI:C206116 xref: ORDO:171848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1389 ! polyneuropathy is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0080182 name: mixed fibrolamellar hepatocellular carcinoma def: "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. (DO)" [https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/ "DO"] is_a: DOID:5015 ! fibrolamellar carcinoma [Term] id: DOID:0080183 name: medullary colon carcinoma def: "A colon carcinoma that is characterized by a solid growth pattern. (DO)" [http://www.pathologyoutlines.com/topic/colontumormedullary.html "DO", PMID:10414504 "DO", PMID:20811712 "DO"] xref: RDO:9002020 is_a: DOID:1520 ! colon carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0080184 name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung "DO", PMID:20073606 "DO"] synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [] synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT [] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080185 name: mucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. (DO)" [PMID:16463270 "DO"] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080186 name: nonmucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. (DO)" [PMID:17616987 "DO"] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080187 name: chronic neutrophilic leukemia def: "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. (DO)" [https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia "DO"] synonym: "chronic neutrophilic leukemias" EXACT [] xref: EFO:1000179 xref: GARD:10585 xref: ICDO:9963/3 xref: MESH:D015467 xref: NCI:C3179 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:1036 ! chronic leukemia [Term] id: DOID:0080188 name: chronic myelomonocytic leukemia def: "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. (DO)" [https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia "DO", PMID:30367269 "DO", PMID:31093889 "DO"] synonym: "chronic myelomonocytic leukemias" EXACT [] xref: EFO:1001779 xref: GARD:8225 xref: ICDO:9945/3 xref: MESH:D015477 xref: MONDO:0020311 xref: NCI:C3178 is_a: DOID:1036 ! chronic leukemia is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:0080189 name: malignant hemangioma def: "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. (DO)" [http://www.rare-cancer.org/info/hemangioendothelioma.php "DO", https://en.wikipedia.org/wiki/Hemangioma "DO"] is_a: DOID:1115 ! sarcoma is_a: DOID:154 ! mixed cell type cancer is_a: DOID:175 ! vascular cancer [Term] id: DOID:0080190 name: malignant epithelioid hemangioendothelioma def: "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800 "DO"] xref: NCI:C3800 is_a: DOID:0080189 ! malignant hemangioma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0080192 name: relapsed/refractory diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. (DO)" [PMID:22160081 "DO"] is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:0080193 name: superior semicircular canal dehiscence def: "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. (DO)" [PMID:10651428 "DO", PMID:28503164 "DO", PMID:28790965 "DO"] synonym: "canal dehiscence syndrome" EXACT [] synonym: "minor's syndrome" EXACT [] synonym: "superior canal dehiscence" EXACT [] synonym: "superior canal syndrome" EXACT [] synonym: "superior semicircular canal dehiscence syndrome" EXACT [] synonym: "third mobile window syndrome" EXACT [] xref: MONDO:0018484 xref: ORDO:420402 is_a: DOID:2952 ! inner ear disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080194 name: Carey-Fineman-Ziter syndrome def: "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. (DO)" [MIM:254940 "DO", PMID:28681861 "DO"] synonym: "Congenital nonprogressive myopathy with Moebius and Robin sequence" EXACT [] synonym: "Moebius sequence, Robin complex, and hypotonia" EXACT [] synonym: "Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences" EXACT [] synonym: "Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence" EXACT [] xref: GARD:3889 xref: MESH:C536102 xref: MIM:PS254940 xref: MONDO:0031415 xref: ORDO:1358 is_a: DOID:0080000 ! muscular disease is_a: DOID:13501 ! Moebius syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:0080195 name: Marinesco-Sjogren syndrome def: "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (DO)" [https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms "DO", MIM:248800 "DO"] synonym: "Garland-Moorhouse syndrome" EXACT [] synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [] synonym: "Marinesco-Garland syndrome" EXACT [] synonym: "Marinesco Sjogren Garland syndrome" EXACT [] synonym: "Marinesco-Sjogren-like syndrome (MSLS)" EXACT [] synonym: "Marinesco Sjogren syndrome hypergonadotrophic hypogonadism" EXACT [] synonym: "Marinesco Sjogren syndrome myopathy" EXACT [] synonym: "Marinesco Sjögren syndrome" EXACT [] synonym: "oligophrenic cerebellolenticular degeneration" EXACT [] xref: GARD:8341 xref: MESH:C535913 xref: ORDO:559 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0080000 ! muscular disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:0080196 name: mandibulofacial dysostosis, Guion-Almeida type def: "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (DO)" [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly "DO", https://www.ncbi.nlm.nih.gov/books/NBK214367/ "DO"] synonym: "EFTUD2-related condition" BROAD [] synonym: "growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" EXACT [] synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT [] synonym: "mandibulofacial dysostosis with microcephaly" EXACT [] synonym: "MFDGA" EXACT [] synonym: "MFDM" EXACT [] synonym: "MFDM syndrome" EXACT [] xref: GARD:10056 xref: MESH:C537405 xref: MIM:610536 xref: MONDO:0012516 xref: ORDO:79113 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:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0080197 name: congenital muscular dystrophy with cataracts and intellectual disability def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. (DO)" [PMID:28190459 "DO"] synonym: "congenital muscular dystrophy with cataracts and impaired intellectual development" EXACT [] synonym: "INPP5K-related condition" BROAD [] synonym: "MDCCAID" EXACT [] xref: EFO:0009149 xref: MIM:617404 xref: MONDO:0024607 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:83 ! cataract [Term] id: DOID:0080198 name: infantile histiocytoid cardiomyopathy def: "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. (DO)" [PMID:10960495 "DO"] synonym: "foamy myocardial transformation of infancy" EXACT [] synonym: "focal lipid cardiomyopathy" EXACT [] synonym: "histiocytoid cardiomyopathy" EXACT [] synonym: "infantile xanthomatous cardiomyopathy" EXACT [] synonym: "oncocytic cardiomyopathy" EXACT [] xref: GARD:9511 xref: MESH:C535584 xref: MIM:500000 xref: MONDO:0010771 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0080199 name: colorectal carcinoma def: "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978 "DO"] synonym: "colorectal carcinomas" EXACT [] xref: EFO:0000755 xref: EFO:1001951 xref: NCI:C2955 is_a: DOID:305 ! carcinoma is_a: DOID:9256 ! colorectal cancer [Term] id: DOID:0080200 name: bilateral renal aplasia def: "A renal agenesis that is characterized by the absence of both kidneys at birth. (DO)" [https://rarediseases.org/rare-diseases/renal-agenesis-bilateral/ "DO"] xref: EFO:1001951 xref: ORDO:1848 is_a: DOID:14766 ! renal agenesis [Term] id: DOID:0080201 name: Peters plus syndrome alt_id: MIM:261540 def: "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. (DO)" [https://en.wikipedia.org/wiki/Peters-plus_syndrome "DO", https://ghr.nlm.nih.gov/condition/peters-plus-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1464/ "DO", ORDO:709 "DO", PMID:25544610 "DO"] synonym: "Krause-Kivlin syndrome" EXACT [] synonym: "Krause-Van Schooneveld-Kivlin syndrome" EXACT [] synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [] synonym: "Peters anomaly with short limb dwarfism" EXACT [] xref: GARD:8422 xref: MESH:C537617 xref: NCI:C123436 is_a: DOID:0060673 ! Peters anomaly is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0080202 name: adenoid cystic carcinoma def: "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. (DO)" [http://codes.iarc.fr/code/2592 "DO", https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO", https://meshb.nlm.nih.gov/record/ui?ui=D003528 "DO"] synonym: "adenocystic carcinoma" EXACT [] synonym: "adenocystic carcinomas" EXACT [] synonym: "adenoid cystic carcinomas" EXACT [] synonym: "cylindroma" EXACT [] synonym: "cylindromas" EXACT [] xref: EFO:0000231 xref: GARD:5743 xref: ICDO:8200/3 xref: MESH:D003528 is_a: DOID:305 ! carcinoma is_a: DOID:8858 ! tonsil cancer [Term] id: DOID:0080204 name: renal hypoplasia def: "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. (DO)" [https://www.nature.com/articles/pr2010138 "DO"] xref: EFO:0009471 xref: ORDO:93101 is_a: DOID:557 ! kidney disease is_a: DOID:9007600 ! Renal and Mullerian Duct Hypoplasia [Term] id: DOID:0080205 name: CAKUT def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. (DO)" [https://www.jci.org/articles/view/95300 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/ "DO", PMID:25313840 "DO"] synonym: "congenital anomalies of kidney and urinary tract" EXACT [] synonym: "congenital anomalies of the kidney and urinary tract" EXACT [] synonym: "DCHS1-RELATED CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT" NARROW [] synonym: "NON-SYNDROMIC RENAL OR URINARY TRACT MALFORMATION" EXACT [] synonym: "renal or urinary tract malformation" EXACT [] xref: MESH:C566906 xref: MIM:PS610805 xref: ORDO:93545 is_a: DOID:18 ! urinary system disease is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:0080206 name: CAKUT1 alt_id: MIM:610805 def: "A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. (DO)" [PMID:23862974 "DO"] synonym: "congenital anomalies of kidney and urinary tract 1" EXACT [] synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO" RELATED [] synonym: "congenital anomalies of the kidney and urinary tract 1" EXACT [] synonym: "DSTYK-RELATED CONDITION" BROAD [] synonym: "nonsyndromic renal hypodysplasia 1" EXACT [] synonym: "RHDNS1" EXACT [] xref: MESH:C563661 is_a: DOID:0080205 ! CAKUT is_a: DOID:557 ! kidney disease [Term] id: DOID:0080207 name: CAKUT2 def: "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)" [PMID:26235987 "DO"] synonym: "congenital anomalies of kidney and urinary tract 2" EXACT [] synonym: "Congenital anomalies of the kidney and urinary tract 2" EXACT [] synonym: "Hydronephrosis Due To Pujo" EXACT [] synonym: "MCRD" EXACT [] synonym: "Multicystic Renal Dysplasia, Bilateral" EXACT [] synonym: "pelvi-ureteric junction obstruction" EXACT [1] synonym: "pelviureteric junction obstruction" EXACT [1] synonym: "PUJO" EXACT [] synonym: "TBX18-related condition" BROAD [] synonym: "UPJO" EXACT [] xref: MESH:C537373 xref: MIM:143400 xref: MONDO:0027676 is_a: DOID:0080205 ! CAKUT is_a: DOID:0111145 ! ureteropelvic junction obstruction is_a: DOID:11111 ! hydronephrosis is_a: DOID:5199 ! ureteral obstruction is_a: DOID:630 ! genetic disease is_a: DOID:9005988 ! Multicystic Dysplastic Kidney [Term] id: DOID:0080208 name: metabolic dysfunction-associated steatotic liver disease alt_id: DOID:0080546 alt_id: MIM:613282 alt_id: MIM:613387 def: "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. (DO)" [PMID:37364816 "DO"] synonym: "alcoholic liver disease, susceptibility to, 1" RELATED [] synonym: "Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2" RELATED [] synonym: "MAFLD" EXACT [] synonym: "MASLD" EXACT [] synonym: "metabolic-associated fatty liver disease" EXACT [] synonym: "metabolic dysfunction-associated fatty liver disease" EXACT [] synonym: "metabolic dysfunction-related steatotic liver disease" EXACT [] synonym: "NAFL" EXACT [] synonym: "NAFLD" EXACT [] synonym: "NAFLD1" NARROW [] synonym: "NAFLD2" NARROW [] synonym: "Nonalcoholic Fatty Liver" EXACT [] synonym: "non-alcoholic fatty liver" EXACT [] synonym: "non-alcoholic fatty liver disease" EXACT [] synonym: "nonalcoholic fatty liver disease" EXACT [] synonym: "nonalcoholic fatty liver disease, susceptibility to" RELATED [] synonym: "nonalcoholic fatty liver disease, susceptibility to, 1" RELATED [] xref: EFO:0003095 xref: EFO:1001248 xref: MESH:D065626 xref: NCI:C84444 is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:0080209 name: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay def: "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. (DO)" [PMID:23553769 "DO", PMID:25193871 "DO"] synonym: "SIFD" EXACT [] xref: MIM:616084 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:8955 ! sideroblastic anemia is_a: DOID:9000972 ! Fever is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0080210 name: primary mediastinal B-cell lymphoma def: "A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. (DO)" [PMID:28318892 "DO"] synonym: "large cell lymphoma of the mediastinum" EXACT [] synonym: "mediastinal diffuse large-cell lymphoma with sclerosis" EXACT [] synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [] xref: ICD10CM:C85.2 xref: MONDO:0020323 xref: NCI:C9280 xref: ORDO:98838 is_a: DOID:0050745 ! diffuse large B-cell lymphoma [Term] id: DOID:0080211 name: nodal marginal zone lymphoma def: "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863 "DO", PMID:26989202 "DO"] xref: NCI:C8863 is_a: DOID:0050748 ! marginal zone lymphoma [Term] id: DOID:0080212 name: polycystic kidney disease 4 def: "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. (DO)" [MIM:173900 "DO"] synonym: "abnormality of the intrahepatic bile duct" BROAD [] synonym: "ARPKD" EXACT [] synonym: "infantile polycystic kidney disease, type 1" EXACT [] synonym: "infantile polycystic kidney disease, type I" EXACT [] synonym: "PKD3" EXACT [] synonym: "PKD4" EXACT [] synonym: "PKHD1" EXACT [] synonym: "PKHD1-related condition" BROAD [] synonym: "polycystic kidney and hepatic disease 1" EXACT [] synonym: "Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)" EXACT [] synonym: "polycystic kidney disease 4 with or without hepatic disease" EXACT [] synonym: "polycystic kidney disease 4 with or without polycystic liver disease" EXACT [] synonym: "polycystic kidney disease, autosomal recessive" EXACT [] xref: MIM:263200 xref: MONDO:0033004 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease [Term] id: DOID:0080213 name: punctate palmoplantar keratoderma type II def: "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. (DO)" [PMID:8651714 "DO"] synonym: "palmoplantar keratoderma, punctate type 2" EXACT [] synonym: "PPKP2" EXACT [] xref: GARD:4439 xref: MIM:175860 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0080214 name: punctate palmoplantar keratoderma type I alt_id: MIM:148600 alt_id: MIM:614936 def: "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. (DO)" [PMID:23000146 "DO"] synonym: "Buschke Fischer Brauer syndrome" EXACT [] synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXACT [] synonym: "keratosis palmoplantaris papulosa" EXACT [] synonym: "KPPP1" EXACT [] synonym: "PPKP1" EXACT [] synonym: "PPKP1A" EXACT [] synonym: "punctate palmoplantar keratoderma type 1" EXACT [] synonym: "punctate palmoplantar keratoderma type 1A" EXACT [] synonym: "punctate palmoplantar keratoderma type 1B" EXACT [] synonym: "punctate palmoplantar keratoderma type IA" EXACT [] xref: MESH:C536161 is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0080215 name: developmental and epileptic encephalopathy 8 alt_id: MIM:300607 def: "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (DO)" [PMID:15215304 "DO", PMID:21633362 "DO"] synonym: "ARHGEF9-RELATED CONDITION" EXACT [] synonym: "DEE8" EXACT [] synonym: "early infantile epileptic encephalopathy 8" EXACT [] synonym: "EIEE8" EXACT [] synonym: "hyperekplexia and epilepsy" EXACT [] xref: MESH:C564474 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0060695 ! hyperekplexia is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080216 name: duodenal atresia alt_id: MIM:223400 def: "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. (DO)" [https://en.wikipedia.org/wiki/Duodenal_atresia "DO"] synonym: "duodenal stenosis" EXACT [] synonym: "familial duodenal atresia" EXACT [] xref: GARD:54 xref: MESH:C535720 is_a: DOID:10486 ! intestinal atresia is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:0080217 name: lysosomal acid lipase deficiency def: "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO"] synonym: "acid cholesteryl ester hydrolase deficiency, type 2" EXACT [] synonym: "acid lipase disease" EXACT [] synonym: "CESD" EXACT [] synonym: "cholesterol ester hydrolase deficiency" EXACT [] synonym: "LAL-D" EXACT [] synonym: "LAL deficiency" EXACT [] synonym: "LIPA deficiency" EXACT [] xref: EFO:0700022 xref: GARD:12097 xref: ICD10CM:E75.5 xref: MIM:PS278000 xref: ORDO:275761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0080218 name: primary spontaneous pneumothorax def: "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. (DO)" [https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax "DO"] synonym: "familial spontaneous pneumothorax" EXACT [] xref: GARD:4997 xref: MIM:173600 xref: MONDO:0008259 xref: ORDO:2903 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:0080219 name: dystransthyretinemic hyperthyroxinemia alt_id: MIM:145680 def: "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. (DO)" [PMID:1979335 "DO"] synonym: "DTTRH" EXACT [] synonym: "dysprealbuminemic hyperthyroxinemia" EXACT [] synonym: "dystransthyretinemic euthyroidal hyperthyroxinemia" EXACT [] synonym: "euthryroidal hyperthyroxinemia 2" EXACT [] xref: MESH:C567719 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:0080222 name: pseudohypoparathyroidism type 1B def: "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. (DO)" [PMID:14561710 "DO", PMID:15592469 "DO", PMID:6301273 "DO", PMID:6325502 "DO"] synonym: "PHD1b" EXACT [] synonym: "PHD Ib" EXACT [] synonym: "PHP1B" EXACT [] synonym: "PHP IB" EXACT [] synonym: "pseudohypoparathyroidism type IB" EXACT [] xref: GARD:10680 xref: MIM:603233 xref: MONDO:0011301 xref: ORDO:94089 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:0080223 name: epidermolytic palmoplantar keratoderma def: "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. (DO)" [PMID:7544663 "DO"] synonym: "epidermolytic palmoplantar keratodermas" EXACT [] synonym: "epidermolytic Thost-Unna disease" EXACT [] synonym: "EPPK" EXACT [] synonym: "EPPK (epidermolytic palmoplantar heratoderma)" EXACT [] synonym: "Greither Keratosis" EXACT [] synonym: "keratosis of Greither" EXACT [] synonym: "keratosis palmaris et plantaris familiaris" EXACT [] synonym: "localized epidermolytic hyperkeratoses" EXACT [] synonym: "localized epidermolytic hyperkeratosis" EXACT [] synonym: "PPKE" EXACT [] xref: GARD:2826 xref: MESH:D053546 xref: MIM:PS144200 xref: MONDO:0968949 xref: NCI:C84693 xref: ORDO:2199 is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma [Term] id: DOID:0080224 name: autosomal dominant dystrophic epidermolysis bullosa alt_id: MIM:131750 def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO"] synonym: "albopapuloid dominant dystrophic EB" EXACT [] synonym: "ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA" NARROW [] synonym: "Cockayne Touraine disease" EXACT [] synonym: "DDEB" EXACT [] synonym: "EBDCT" EXACT [] synonym: "EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE" NARROW [] synonym: "EBDSC" NARROW [] synonym: "epidermolysis bullosa, Cockayne Touraine type" EXACT [] synonym: "epidermolysis bullosa dystrophica, AD" EXACT [] synonym: "epidermolysis bullosa dystrophica, autosomal dominant" EXACT [] synonym: "epidermolysis bullosa dystrophica, Cockayne Touraine type" EXACT [] synonym: "epidermolysis bullosa dystrophica, dominant" EXACT [] synonym: "epidermolysis bullosa dystrophica, Pasini type" EXACT [] xref: GARD:2139 xref: MESH:C535956 xref: NCI:C205633 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0080225 name: amyotrophic lateral sclerosis type 23 def: "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)" [PMID:28469040 "DO"] synonym: "ALS23" EXACT [] synonym: "amyotrophic lateral sclerosis 23" EXACT [] synonym: "ANXA11-RELATED CONDITION" BROAD [] xref: MIM:617839 xref: NCI:C178411 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0080226 name: autosomal dominant intellectual developmental disorder 56 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (DO)" [PMID:26822784 "DO", PMID:29100083 "DO"] synonym: "autosomal dominant mental retardation 56" EXACT [] synonym: "CLTC-RELATED CONDITION" EXACT [] synonym: "MRD56" EXACT [] xref: MIM:617854 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080227 name: autosomal dominant intellectual developmental disorder 55 def: "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. (DO)" [PMID:29100083 "DO"] synonym: "autosomal dominant intellectual developmental disorder 55 with seizures" EXACT [] synonym: "autosomal dominant mental retardation 55" EXACT [] synonym: "autosomal dominant mental retardation 55 with seizures" EXACT [] synonym: "MRD55" EXACT [] xref: MIM:617831 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080228 name: autosomal dominant intellectual developmental disorder 53 alt_id: MIM:617798 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)" [PMID:29100089 "DO"] synonym: "autosomal dominant mental retardation 53" EXACT [] synonym: "CAMK2A-RELATED CONDITION" BROAD [] synonym: "MRD53" EXACT [] xref: EFO:0009165 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080230 name: autosomal dominant intellectual developmental disorder 54 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. (DO)" [PMID:29100089 "DO"] synonym: "autosomal dominant mental retardation 54" EXACT [] synonym: "CAMK2B-RELATED CONDITION" EXACT [] synonym: "MRD54" EXACT [] xref: EFO:0009164 xref: MIM:617799 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080231 name: autosomal dominant intellectual developmental disorder 52 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. (DO)" [PMID:23033978 "DO"] synonym: "ASH1L-RELATED CONDITION" EXACT [] synonym: "ASH1L-RELATED DISORDER" EXACT [] synonym: "autosomal dominant mental retardation 52" EXACT [] synonym: "MRD52" EXACT [] xref: EFO:0009152 xref: MIM:617796 xref: NCI:C206522 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080232 name: autosomal dominant intellectual developmental disorder 51 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. (DO)" [PMID:28191889 "DO"] synonym: "autosomal dominant mental retardation 51" EXACT [] synonym: "KMT5B-RELATED CONDITION" EXACT [] synonym: "MRD51" EXACT [] xref: MIM:617788 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080233 name: autosomal dominant intellectual developmental disorder 50 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. (DO)" [PMID:28191889 "DO"] synonym: "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities" EXACT [] synonym: "autosomal dominant mental retardation 50" EXACT [] synonym: "MRD50" EXACT [] synonym: "NAA15-related condition" BROAD [] synonym: "NAA15-RELATED DISORDER" EXACT [] synonym: "NAA15-related syndrome" BROAD [] xref: MIM:617787 xref: MONDO:0030916 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080234 name: Clark-Baraitser syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)" [PMID:27848077 "DO"] synonym: "autosomal dominant intellectual disability 49" EXACT [] synonym: "autosomal dominant mental retardation 49" EXACT [] synonym: "Baraitser Syndrome" EXACT [] synonym: "CLABARS" EXACT [] synonym: "MRD49" EXACT [] synonym: "TRIP12-related condition" BROAD [] xref: GARD:13584 xref: MESH:C536208 xref: MIM:617752 xref: MONDO:0030914 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9970 ! obesity [Term] id: DOID:0080235 name: autosomal dominant intellectual developmental disorder 48 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)" [PMID:28886345 "DO"] synonym: "autosomal dominant mental retardation 48" EXACT [] synonym: "MRD48" EXACT [] synonym: "RAC1-RELATED CONDITION" EXACT [] xref: EFO:0009156 xref: MIM:617751 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080236 name: autosomal dominant intellectual developmental disorder 45 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. (DO)" [PMID:28288114 "DO"] synonym: "autosomal dominant mental retardation 45" EXACT [] synonym: "CIC-RELATED CONDITION" EXACT [] synonym: "MRD45" EXACT [] xref: MIM:617600 xref: NCI:C222355 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080237 name: autosomal dominant intellectual developmental disorder 46 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. (DO)" [PMID:28669405 "DO"] synonym: "autosomal dominant mental retardation 46" EXACT [] synonym: "KCNQ5-RELATED CONDITION" EXACT [] synonym: "MRD46" EXACT [] xref: MIM:617601 xref: MONDO:0030911 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080238 name: autosomal dominant intellectual developmental disorder 47 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. (DO)" [PMID:28119487 "DO"] synonym: "autosomal dominant mental retardation 47" EXACT [] synonym: "MRD47" EXACT [] synonym: "STAG1-RELATED CONDITION" EXACT [] synonym: "STAG1-related disorder" BROAD [] synonym: "STAG1-related disorders" BROAD [] xref: EFO:0009078 xref: MIM:617635 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080239 name: autosomal recessive intellectual developmental disorder 61 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. (DO)" [MIM:617773 "DO", PMID:27612186 "DO"] synonym: "Alwadei syndrome" EXACT [] synonym: "autosomal recessive mental retardation 61" EXACT [] synonym: "MRT61" EXACT [] synonym: "RUSC2-related condition" BROAD [] xref: MIM:617773 xref: MONDO:0030915 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0080240 name: non-syndromic X-linked intellectual disability 106 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. (DO)" [PMID:28302723 "DO", PMID:28584052 "DO"] synonym: "MRX106" EXACT [] synonym: "OGT-related condition" BROAD [] synonym: "XLID106" EXACT [] synonym: "X-linked intellectual developmental disorder 106" EXACT [] synonym: "X-linked mental retardation 106" EXACT [] xref: MIM:300997 xref: MONDO:0030907 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0080241 name: syndromic X-linked mental retardation 35 def: "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. (DO)" [PMID:26290468 "DO"] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35" EXACT [] synonym: "INTELLECTUAL DISABILITY, X-LINKED, SYNDROMIC, 35" EXACT [] synonym: "MRXS35" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 35" EXACT [] synonym: "syndromic X-linked intellectual disability 35" EXACT [] xref: MIM:300998 xref: MONDO:0030908 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080242 name: syndromic X-linked mental retardation Hough type def: "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. (DO)" [PMID:28098945 "DO"] synonym: "CNKSR2-RELATED CONDITION" EXACT [] synonym: "Houge-type X-linked syndromic mental retardation" EXACT [] synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT [] synonym: "MRXSHG" EXACT [] xref: MIM:301008 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0080243 name: amelogenesis imperfecta type 3B def: "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. (DO)" [PMID:27412008 "DO"] synonym: "AI3B" EXACT [] synonym: "AMTN-RELATED CONDITION" EXACT [] xref: MIM:617607 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0080244 name: Galloway-Mowat syndrome 2 def: "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. (DO)" [PMID:28805828 "DO"] synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT [] synonym: "GAMOS2" EXACT [] synonym: "LAGE3-RELATED CONDITION" EXACT [] xref: MIM:301006 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080245 name: Galloway-Mowat syndrome 3 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. (DO)" [PMID:28805828 "DO"] synonym: "GAMOS3" EXACT [] synonym: "OSGEP-RELATED CONDITION" EXACT [] xref: MIM:617729 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080246 name: Galloway-Mowat syndrome 4 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. (DO)" [PMID:28805828 "DO"] synonym: "GAMOS4" EXACT [] synonym: "TP53RK-RELATED CONDITION" EXACT [] xref: MIM:617730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080247 name: Galloway-Mowat syndrome 5 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. (DO)" [PMID:28805828 "DO"] synonym: "GAMOS5" EXACT [] synonym: "TPRKB-RELATED DISORDER" EXACT [] xref: MIM:617731 is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080248 name: erythrokeratodermia variabilis et progressiva 2 def: "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. (DO)" [PMID:12648223 "DO"] synonym: "EKVP2" EXACT [] synonym: "GJB4-RELATED CONDITION" EXACT [] xref: MIM:617524 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080249 name: erythrokeratodermia variabilis et progressiva 3 def: "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. (DO)" [PMID:25398053 "DO"] synonym: "MIM:617525" EXACT [] is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080250 name: erythrokeratodermia variabilis et progressiva 4 def: "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. (DO)" [PMID:28575652 "DO"] synonym: "EKVP4" EXACT [] xref: MIM:617526 xref: MONDO:0033014 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080251 name: erythrokeratodermia variabilis et progressiva 5 def: "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. (DO)" [PMID:27965375 "DO"] synonym: "EKVP5" EXACT [] synonym: "KRT83-RELATED CONDITION" BROAD [] xref: MIM:617756 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2018-01-23T10:17:39Z [Term] id: DOID:0080252 name: spastic ataxia 8 def: "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. (DO)" [PMID:28575651 "DO"] synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT [] synonym: "SPAX8" EXACT [] xref: MIM:617560 xref: MONDO:0033043 xref: ORDO:527497 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0080253 name: Meckel syndrome 13 def: "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. (DO)" [PMID:26123494 "DO"] synonym: "Meckel syndrome, type 13" EXACT [] synonym: "MKS13" EXACT [] xref: MIM:617562 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1148 ! polydactyly is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0080254 name: orofaciodigital syndrome XVI def: "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)" [PMID:26518474 "DO"] synonym: "OFD16" EXACT [] synonym: "OFDS XVI" EXACT [] synonym: "oral-facial-digital syndrome, type XVI" EXACT [] xref: MIM:617563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0080255 name: Meier-Gorlin syndrome 8 def: "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. (DO)" [PMID:28198391 "DO"] synonym: "MCM5-RELATED CONDITION" EXACT [] synonym: "MGORS8" EXACT [] xref: MIM:617564 xref: MONDO:0033046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080256 name: Perrault syndrome 6 def: "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. (DO)" [PMID:28449065 "DO"] synonym: "PRLTS6" EXACT [] xref: MIM:617565 xref: MONDO:0033047 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:0080257 name: autosomal recessive congenital ichthyosis 13 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. (DO)" [PMID:28369735 "DO"] synonym: "ARCI13" EXACT [] synonym: "SDR9C7-RELATED CONDITION" EXACT [] xref: MIM:617574 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0080258 name: autosomal recessive congenital ichthyosis 14 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 SULT2B1 gene on chromosome 19q13. (DO)" [PMID:28575648 "DO"] synonym: "ARCI14" EXACT [] synonym: "SULT2B1-RELATED CONDITION" EXACT [] xref: MIM:617571 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0080259 name: autosomal recessive spinocerebellar ataxia 25 alt_id: DOID:9008646 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. (DO)" [PMID:26812546 "DO"] synonym: "ATG5-related condition" BROAD [] synonym: "SCAR25" EXACT [] xref: MIM:617584 xref: MONDO:0033115 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080260 name: autosomal recessive spinocerebellar ataxia 26 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. (DO)" [PMID:28002403 "DO"] synonym: "SCAR26" EXACT [] synonym: "XRCC1-related condition" BROAD [] xref: MIM:617633 xref: MONDO:0033116 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080261 name: autosomal recessive nonsyndromic deafness 106 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. (DO)" [PMID:26282398 "DO"] synonym: "autosomal recessive deafness 106" EXACT [] synonym: "DFNB106" EXACT [] synonym: "EPS8L2-RELATED CONDITION" EXACT [] xref: MIM:617637 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080262 name: autosomal recessive nonsyndromic deafness 107 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. (DO)" [PMID:26881968 "DO"] synonym: "autosomal recessive deafness 107" EXACT [] synonym: "DFNB107" EXACT [] synonym: "WBP2-RELATED CONDITION" EXACT [] xref: MIM:617639 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080263 name: autosomal recessive nonsyndromic deafness 108 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. (DO)" [PMID:27162350 "DO"] synonym: "autosomal recessive deafness 108" EXACT [] synonym: "DFNB108" EXACT [] synonym: "ROR1-RELATED CONDITION" EXACT [] xref: MIM:617654 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080264 name: exudative vitreoretinopathy 7 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. (DO)" [PMID:28575650 "DO"] synonym: "EVR7" EXACT [] xref: MIM:617572 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080265 name: RENI syndrome def: "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. (DO)" [MIM:617575 "DO", PMID:28165343 "DO", PMID:30683667 "DO"] synonym: "nephrotic syndrome 14" EXACT [] synonym: "nephrotic syndrome type 14" EXACT [] synonym: "NPHS14" EXACT [] synonym: "SGPL1-related condition" BROAD [] synonym: "sphingosine phosphate lyase insufficiency syndrome" EXACT [] synonym: "SPLIS" EXACT [] xref: MIM:617575 xref: MONDO:0033203 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080266 name: primary ciliary dyskinesia 37 def: "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)" [PMID:25927852 "DO"] synonym: "DNAH1-RELATED CONDITION" BROAD [] xref: MIM:617577 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0080267 name: autosomal dominant nonsyndromic deafness 71 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. (DO)" [PMID:27657680 "DO"] synonym: "autosomal dominant deafness 71" EXACT [] synonym: "DFNA71" EXACT [] xref: MIM:617605 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080268 name: autosomal dominant nonsyndromic deafness 72 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. (DO)" [PMID:28013291 "DO"] synonym: "autosomal dominant deafness 72" EXACT [] synonym: "DFNA72" EXACT [] synonym: "SLC44A4-RELATED CONDITION" EXACT [] xref: MIM:617606 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080269 name: autosomal dominant nonsyndromic deafness 73 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. (DO)" [PMID:29309402 "DO"] synonym: "autosomal dominant deafness 73" EXACT [] synonym: "DFNA73" EXACT [] synonym: "PTPRQ-related condition" BROAD [] xref: MIM:617663 xref: MONDO:0033260 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080270 name: autosomal dominant nonsyndromic deafness 34 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)" [PMID:28847925 "DO"] synonym: "autosomal dominant deafness 34 with or without inflammation" EXACT [] synonym: "DFNA34" EXACT [] xref: MIM:617772 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080271 name: nephrotic syndrome type 15 def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)" [PMID:27932480 "DO"] synonym: "MAGI2-RELATED CONDITION" EXACT [] synonym: "nephrotic syndrome 15" EXACT [] synonym: "NPHS15" EXACT [] xref: MIM:617609 xref: MONDO:0033262 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080272 name: nephrotic syndrome type 16 def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. (DO)" [PMID:25961457 "DO"] synonym: "KANK2-RELATED CONDITION" BROAD [] synonym: "nephrotic syndrome 16" EXACT [] synonym: "NPHS16" EXACT [] xref: MIM:617783 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080273 name: polycystic kidney disease 5 def: "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. (DO)" [MIM:617610 "DO"] synonym: "DZIP1L-RELATED CONDITION" EXACT [] synonym: "PKD5" EXACT [] xref: MIM:617610 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease [Term] id: DOID:0080274 name: multiple mitochondrial dysfunctions syndrome 5 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. (DO)" [PMID:28356563 "DO", PMID:29623423 "DO", PMID:31016283 "DO"] synonym: "MMDS5" EXACT [] xref: MIM:617613 xref: MONDO:003328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080275 name: Joubert syndrome 30 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. (DO)" [PMID:28625504 "DO"] synonym: "ARMC9-RELATED CONDITION" EXACT [] synonym: "ARMC9-related Joubert syndrome" EXACT [] synonym: "JBTS30" EXACT [] xref: MIM:617622 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080276 name: Joubert syndrome 29 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)" [PMID:26595381 "DO"] is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080277 name: Joubert syndrome 31 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. (DO)" [PMID:27208211 "DO"] synonym: "CEP120-RELATED CONDITION" BROAD [] synonym: "JBTS31" EXACT [] xref: MIM:617761 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080278 name: Joubert syndrome 32 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. (DO)" [PMID:28965847 "DO"] synonym: "JBTS32" EXACT [] xref: MIM:617757 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080279 name: Joubert syndrome 33 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. (DO)" [PMID:26167768 "DO"] synonym: "JBTS33" EXACT [] synonym: "PIBF1-RELATED CONDITION" EXACT [] xref: MIM:617767 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080280 name: gingival fibromatosis 5 def: "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. (DO)" [PMID:28686854 "DO"] synonym: "GGF5" EXACT [] synonym: "GINGF5" EXACT [] synonym: "hereditary gingival fibromatosis 5" EXACT [] synonym: "HGF5" EXACT [] xref: MIM:617626 xref: MONDO:0033493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:0080281 name: schizophrenia 19 def: "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. (DO)" [PMID:28628109 "DO"] synonym: "RBM12-RELATED CONDITION" EXACT [] synonym: "schizophrenia 19, susceptibility to" RELATED [] synonym: "schizophrenia 19 with or without an affective disorder" EXACT [] synonym: "SCZD19" EXACT [] xref: MIM:617629 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0080282 name: developmental and epileptic encephalopathy 56 def: "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. (DO)" [PMID:28777935 "DO"] synonym: "DEE56" EXACT [] synonym: "early infantile epileptic encephalopathy 56" EXACT [] synonym: "EIEE56" EXACT [] synonym: "YWHAG-RELATED CONDITION" EXACT [] xref: MIM:617665 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080283 name: developmental and epileptic encephalopathy 55 def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (DO)" [PMID:28334793 "DO", PMID:32042915 "DO"] synonym: "DEE55" EXACT [] synonym: "early infantile epileptic encephalopathy 55" EXACT [] synonym: "EIEE55" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 14" EXACT [] synonym: "GPIBD14" EXACT [] synonym: "PIGP-related condition" EXACT [] xref: MIM:617599 xref: MONDO:0033364 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency [Term] id: DOID:0080284 name: developmental and epileptic encephalopathy 57 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (DO)" [PMID:29069600 "DO", PMID:29740868 "DO", PMID:32038177 "DO"] synonym: "DEE57" EXACT [] synonym: "early infantile epileptic encephalopathy 57" EXACT [] synonym: "EIEE57" EXACT [] xref: MIM:617771 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080285 name: developmental and epileptic encephalopathy 58 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. (DO)" [PMID:29100083 "DO"] synonym: "DEE58" EXACT [] synonym: "early infantile epileptic encephalopathy 58" EXACT [] synonym: "EIEE58" EXACT [] synonym: "NTRK2-RELATED CONDITION" BROAD [] xref: MIM:617830 xref: MONDO:0033367 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080286 name: spinocerebellar ataxia 44 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. (DO)" [PMID:28886343 "DO"] synonym: "GRM1-related condition" BROAD [] synonym: "SCA44" EXACT [] xref: MIM:617691 xref: MONDO:0033479 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080287 name: spinocerebellar ataxia 45 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)" [PMID:29053796 "DO"] synonym: "FAT2-RELATED CONDITION" EXACT [] synonym: "SCA45" EXACT [] synonym: "spinocerebellar ataxia type 45" EXACT [] xref: MIM:617769 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080288 name: spinocerebellar ataxia 46 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. (DO)" [PMID:29053796 "DO"] synonym: "autosomal dominant spinocerebellar ataxia 46 with sensory axonal neuropathy" EXACT [] synonym: "PLD3-related condition" EXACT [] synonym: "SCA46" EXACT [] xref: MIM:617770 xref: MONDO:0033481 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080289 name: orofaciodigital syndrome XVII def: "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. (DO)" [PMID:23459408 "DO"] synonym: "INTU-RELATED CONDITION" BROAD [] synonym: "OFD17" EXACT [] synonym: "OFDS XVII" EXACT [] synonym: "oral-facial-digital syndrome, type XVII" EXACT [] xref: MIM:617926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: rgd creation_date: 2017-07-12T17:20:34Z [Term] id: DOID:0080290 name: familial erythrocytosis 5 def: "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. (DO)" [PMID:29514032 "DO"] synonym: "ECYT5" EXACT [] xref: MIM:617907 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080291 name: developmental and epileptic encephalopathy 59 def: "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. (DO)" [PMID:25262651 "DO"] synonym: "DEE59" EXACT [] synonym: "early infantile epileptic encephalopathy 59" EXACT [] synonym: "EIEE59" EXACT [] xref: MIM:617904 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080292 name: retinitis pigmentosa 81 def: "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [PMID:28973684 "DO"] synonym: "RP81" EXACT [] xref: MIM:617871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0080293 name: short-rib thoracic dysplasia 18 with polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [PMID:28400947 "DO"] synonym: "SRTD18" EXACT [] xref: MIM:617866 xref: MONDO:0036483 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080294 name: Charcot-Marie-Tooth disease dominant intermediate G def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. (DO)" [PMID:28364294 "DO"] xref: EFO:0010267 xref: MIM:617882 xref: MONDO:0036484 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080295 name: short-rib thoracic dysplasia 19 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. (DO)" [PMID:27666822 "DO"] synonym: "IFT81-related condition" BROAD [] synonym: "short-rib thoracic dysplasia 19 without polydactyly" EXACT [] synonym: "SRTD19" EXACT [] xref: MIM:617895 xref: MONDO:0033485 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080296 name: hypomyelinating leukodystrophy 14 def: "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. (DO)" [PMID:28931644 "DO"] synonym: "HLD14" EXACT [] synonym: "UFM1-RELATED CONDITION" EXACT [] xref: MIM:617899 xref: MONDO:0033486 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0080297 name: Coffin-Siris syndrome 6 def: "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. (DO)" [PMID:28124119 "DO"] synonym: "ARID2-RELATED BAFOPATHY" EXACT [] synonym: "ARID2-RELATED CONDITION" EXACT [] synonym: "CSS6" EXACT [] xref: MIM:617808 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0080298 name: complete generalized lipodystrophy def: "A lipodystrophy that is characterized by complete loss of adipose tissue. (DO)" [https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ "DO"] is_a: DOID:811 ! lipodystrophy [Term] id: DOID:0080299 name: partial lipodystrophy alt_id: MIM:608709 def: "A lipodystrophy that is characterized by partial loss of adipose tissue. (DO)" [https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ "DO"] synonym: "APLD" EXACT [] synonym: "APLD, SUSCEPTIBILITY TO" RELATED [] synonym: "Barraquer-Simons Syndrome" EXACT [] synonym: "Lipodystrophy, Cephalothoracic Type" EXACT [] synonym: "partial lipodystrophy, acquired" EXACT [] synonym: "progressive partial lipodystrophy" EXACT [] synonym: "susceptibility to partial acquired lipodystrophy" RELATED [] xref: EFO:0020027 xref: MESH:C562448 is_a: DOID:811 ! lipodystrophy [Term] id: DOID:0080300 name: acquired generalized lipodystrophy def: "A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. (DO)" [http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf "DO", PMID:23287278 "DO"] synonym: "Lawrence syndrome" EXACT [] is_a: DOID:0080298 ! complete generalized lipodystrophy [Term] id: DOID:0080301 name: atypical hemolytic-uremic syndrome def: "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. (DO)" [https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage "DO", https://rarediseases.info.nih.gov/diseases/8702/index#ref_2575 "DO", PMID:29226095 "DO"] synonym: "AHUS1" RELATED [] synonym: "AHUS2" RELATED [] synonym: "AHUS3" RELATED [] synonym: "AHUS4" RELATED [] synonym: "AHUS5" RELATED [] synonym: "AHUS6" RELATED [] synonym: "AHUS, susceptibility to, 1" RELATED [] synonym: "AHUS, susceptibility to, 2" RELATED [] synonym: "AHUS, susceptibility to, 3" RELATED [] synonym: "AHUS, susceptibility to, 4" RELATED [] synonym: "AHUS, susceptibility to, 5" RELATED [] synonym: "AHUS, susceptibility to, 6" RELATED [] synonym: "atypical hemolytic-uremic syndromes" EXACT [] synonym: "atypical hemolytic uremic syndrome, susceptibility to" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 1" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 2" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 3" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 4" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 5" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 6" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 7" RELATED [] synonym: "CD46-related condition" BROAD [] synonym: "FAMILIAL ATYPICAL HEMOLYTIC-UREMIC SYNDROME" EXACT [] synonym: "Nonenteropathic HUS" EXACT [] synonym: "Non Shiga Like Toxin Associated HUS" EXACT [] synonym: "Non Stx Hus" EXACT [] synonym: "THBD-related condition" BROAD [] xref: GARD:8702 xref: MESH:D065766 xref: MIM:235400 xref: MIM:612922 xref: MIM:612923 xref: MIM:612924 xref: MIM:612925 xref: MIM:612926 xref: OMIA:000636 xref: ORDO:2134 is_a: DOID:12554 ! hemolytic-uremic syndrome is_a: DOID:626 ! complement deficiency [Term] id: DOID:0080302 name: mixed sleep apnea def: "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. (DO)" [https://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea "DO", PMID:26681187 "DO"] synonym: "complex sleep apnea" EXACT [] synonym: "mixed central and obstructive sleep apnea" EXACT [] synonym: "mixed sleep apneas" EXACT [] is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:0080303 name: mucinous lung adenocarcinoma def: "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. (DO)" [PMID:15628896 "DO"] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080304 name: lung mucinous cystadenocarcinoma def: "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. (DO)" [https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung "DO", PMID:14602331 "DO"] is_a: DOID:3603 ! mucinous cystadenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080305 name: signet ring lung adenocarcinoma def: "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. (DO)" [PMID:16463270 "DO"] xref: EFO:1000338 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080306 name: solid adenocarcinoma with mucin production def: "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. (DO)" [PMID:16463270 "DO"] is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080307 name: myofibrillar myopathy def: "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)" [https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy "DO", https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy "DO", PMID:23995273 "DO"] synonym: "myofibrillar myopathies" EXACT [] synonym: "myofibrillar myopathy, dominant" NARROW [] xref: GARD:10529 xref: MESH:C580316 xref: MIM:PS601419 xref: MONDO:0018943 xref: NCI:C83009 is_a: DOID:422 ! congenital structural myopathy is_a: DOID:423 ! myopathy [Term] id: DOID:0080308 name: myofibrillar myopathy 8 def: "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (DO)" [https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy "DO"] synonym: "MFM8" EXACT [] synonym: "PYROXD1-RELATED CONDITION" EXACT [] xref: MIM:617258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2018-06-19T00:00:00Z [Term] id: DOID:0080309 name: infantile-onset myofibrillar myopathy-2B def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)" [PMID:23995273 "DO"] synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [] synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [] synonym: "MFM2B" EXACT [] synonym: "MFM, fatal infantile hypertonic, alpha-b crystallin-related" EXACT [] xref: MIM:613869 xref: MONDO:0013472 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2018-06-19T00:00:00Z [Term] id: DOID:0080311 name: Billuart-type X-linked syndromic intellectual developmental disorder def: "A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. (DO)" [PMID:16158428 "DO", PMID:20528889 "DO"] synonym: "MRX60" EXACT [] synonym: "MRXSBL" EXACT [] synonym: "OPHN1-related condition" BROAD [] synonym: "OPHN1-RELATED DISORDER" EXACT [] synonym: "X-linked mental retardation 60" EXACT [] synonym: "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance" EXACT [] xref: MESH:C537456 xref: MIM:300486 xref: MONDO:0010337 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080312 name: neurodevelopmental disorder with midbrain and hindbrain malformations def: "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. (DO)" [PMID:28453519 "DO"] synonym: "ARHGEF2-RELATED CONDITION" EXACT [] synonym: "NEDMHM" EXACT [] xref: MIM:617523 xref: MONDO:0056797 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9006534 ! Nervous System Malformations created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080313 name: cleft palate-lateral synechia syndrome alt_id: MIM:119550 def: "A physical disorder that is characterized by fusion of maxilla and mandible. (DO)" [ORDO:2016 "DO", PMID:24163560 "DO"] synonym: "CPLS Syndrome" EXACT [] synonym: "syngnathia" EXACT [] xref: MESH:C563047 xref: ORDO:2016 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9001018 ! Mouth Abnormalities created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080314 name: cone-rod dystrophy 14 alt_id: MIM:602093 def: "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. (DO)" [PMID:28125083 "DO", PMID:9425234 "DO"] synonym: "COD3" EXACT [] synonym: "cone dystrophy 3" EXACT [] synonym: "CORD14" EXACT [] synonym: "GUCA1A-RELATED CONDITION" EXACT [] xref: MESH:C566579 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080315 name: megalencephalic leukoencephalopathy with subcortical cysts def: "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. (DO)" [https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts "DO"] synonym: "infantile leukoencephalopathy and megalencephaly" EXACT [] synonym: "leukoencephalopathy with swelling and a discrepantly mild course" EXACT [] synonym: "leukoencephalopathy with swelling and cysts" EXACT [] synonym: "LVM" EXACT [] synonym: "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome" EXACT [] synonym: "megalencephaly-cystic leukodystrophy" EXACT [] synonym: "vacuolating leukoencephalopathy" EXACT [] synonym: "vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [] synonym: "Van Der Knapp disease" EXACT [] synonym: "VL" EXACT [] xref: GARD:3445 xref: MESH:C536141 xref: MIM:PS604004 xref: ORDO:2478 is_a: DOID:10579 ! leukodystrophy is_a: DOID:9007583 ! Cysts is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080316 name: megalencephalic leukoencephalopathy with subcortical cysts 1 def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. (DO)" [PMID:21419380 "DO"] synonym: "MLC1" EXACT [] synonym: "MLC1-RELATED CONDITION" EXACT [] synonym: "Van Der Knaap disease" EXACT [] xref: MIM:604004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080317 name: megalencephalic leukoencephalopathy with subcortical cysts 2B def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)" [PMID:20517947 "DO"] synonym: "HEPACAM-RELATED CONDITION" BROAD [] synonym: "MLC2B" EXACT [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with impaired intellectual development" NARROW [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with mental retardation" NARROW [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without impaired intellectual development" EXACT [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without intellectual disability" EXACT [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without mental retardation" EXACT [] xref: MIM:613926 xref: MONDO:0013491 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080318 name: megalencephalic leukoencephalopathy with subcortical cysts 2A def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)" [PMID:20517947 "DO", PMID:21419380 "DO"] synonym: "HEPACAM-related condition" BROAD [] synonym: "MLC2A" EXACT [] xref: MIM:613925 xref: MONDO:0013490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080319 name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia def: "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes "DO", https://meshb.nlm.nih.gov/record/ui?ui=C536288 "DO", ORDO:317476 "DO"] synonym: "MAGT1-related condition" BROAD [] synonym: "XMEN" EXACT [] xref: MIM:300853 xref: MONDO:0010455 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:417 ! autoimmune disease is_a: DOID:614 ! lymphopenia is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080320 name: peripheral nervous system benign neoplasm def: "A central nervous system benign neoplasm the is located_in the peripheral nervous system. (DO)" [https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680 "DO"] is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:0060115 ! nervous system benign neoplasm is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:0080321 name: autonomic nervous system benign neoplasm def: "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. (DO)" [https://en.wikipedia.org/wiki/Autonomic_nervous_system "DO"] is_a: DOID:0080320 ! peripheral nervous system benign neoplasm [Term] id: DOID:0080322 name: polycystic kidney disease alt_id: OMIA:000807 def: "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. (DO)" [https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd "DO"] synonym: "Microcystic Renal Disease" NARROW [] synonym: "polycystic kidney" EXACT [] synonym: "polycystic kidney disease, adult type" NARROW [] synonym: "polycystic kidney diseases" EXACT [] synonym: "polycystic kidneys" EXACT [] synonym: "polycystic renal disease" EXACT [] synonym: "polycystic renal diseases" EXACT [] xref: EFO:0008620 xref: EFO:0008621 xref: MESH:D007690 xref: MIM:PS173900 xref: NCI:C75464 is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080323 name: pancreatic squamous cell carcinoma def: "A squamous cell carcinoma located in the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/ "DO"] xref: MONDO:0018521 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:0080324 name: tuberous sclerosis 1 alt_id: MIM:191100 def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. (DO)" [MIM:191100 "DO"] synonym: "TSC1" EXACT [] xref: MESH:C565346 xref: NCI:C75122 is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:0080325 name: tuberous sclerosis 2 alt_id: DOID:9000764 def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)" [MIM:613254 "DO", PMID:28667702 "DO"] synonym: "Renal TSC2 Angiomyolipomas, Modifier of" RELATED [] synonym: "TSC2" EXACT [] xref: MESH:C566021 xref: MESH:C567682 xref: MIM:613254 xref: MONDO:0013199 xref: NCI:C75331 is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:0080326 name: familial hypertrophic cardiomyopathy def: "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)" [https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "DO"] synonym: "CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL" NARROW [] synonym: "familial asymmetric septal hypertrophy" EXACT [] synonym: "familial hypertrophic cardiomyopathies" EXACT [] synonym: "familial ventricular hypertrophy" EXACT [] synonym: "hereditary ventricular hypertrophies" EXACT [] synonym: "hereditary ventricular hypertrophy" EXACT [] synonym: "hypertrophic cardiomyopathy, mitochondrial" NARROW [] synonym: "obstructive asymmetric septal hypertrophy" EXACT [] synonym: "primary familial hypertrophic cardiomyopathy" EXACT [] xref: MESH:D024741 xref: MIM:PS192600 xref: MONDO:0024573 xref: NCI:C84773 xref: ORDO:217569 is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:630 ! genetic disease [Term] id: DOID:0080327 name: multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly alt_id: DOID:9001099 def: "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. (DO)" [PMID:28264986 "DO"] synonym: "CEP55-related condition" BROAD [] synonym: "hydranencephaly with renal aplasia-dysplasia" EXACT [] synonym: "MARCH" EXACT [] xref: MESH:C565507 xref: MIM:236500 xref: MONDO:0009359 xref: NCI:C206523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:4626 ! hydranencephaly is_a: DOID:557 ! kidney disease [Term] id: DOID:0080328 name: Culler-Jones syndrome def: "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. (DO)" [PMID:29298444 "DO"] synonym: "CJS" EXACT [] synonym: "GLI2-related condition" BROAD [] synonym: "GLI2-related disorder" BROAD [] synonym: "Pallister-Hall syndrome 2" EXACT [] synonym: "PHS2" EXACT [] xref: GARD:13349 xref: MIM:615849 xref: MONDO:0014369 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:9248 ! Pallister-Hall syndrome is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0080329 name: cold-induced sweating syndrome 1 def: "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK52917/ "DO"] synonym: "CISS1" EXACT [] synonym: "Crisponi/cold-induced sweating syndrome 1" EXACT [] synonym: "CRLF1-related condition" BROAD [] xref: MIM:272430 xref: MONDO:0010091 xref: NCI:C173147 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080330 name: cold-induced sweating syndrome 2 def: "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. (DO)" [PMID:20400119 "DO"] synonym: "CISS2" EXACT [] synonym: "Crisponi/cold-induced sweating syndrome 2" EXACT [] xref: MIM:610313 xref: NCI:C173148 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080331 name: cold-induced sweating syndrome 3 def: "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. (DO)" [PMID:27392078 "DO"] synonym: "CISS3" EXACT [] synonym: "Crisponi/cold-induced sweating syndrome 3" EXACT [] synonym: "KLHL7-RELATED CONDITION" BROAD [] synonym: "PERCHING" EXACT [] synonym: "PERCHING syndrome" EXACT [] xref: MIM:617055 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080332 name: bicuspid aortic valve disease def: "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. (DO)" [ORDO:402075 "DO"] synonym: "BAV" EXACT [] synonym: "bicuspid aortic valve" EXACT [] synonym: "familial bicuspid aortic valve" EXACT [] xref: MESH:D000082882 xref: MIM:PS109730 xref: ORDO:402075 is_a: DOID:62 ! aortic valve disease [Term] id: DOID:0080333 name: aortic valve disease 1 def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. (DO)" [PMID:23388002 "DO"] synonym: "AOVD1" EXACT [] synonym: "calcific aortic stenosis" RELATED [] synonym: "calcific aortic valve disease" RELATED [] synonym: "calcification of aortic valve" RELATED [] synonym: "NOTCH1-RELATED CONDITION" BROAD [] synonym: "NOTCH1-RELATED DISORDER" BROAD [] xref: MIM:109730 xref: MONDO:0024523 xref: NCI:C128803 xref: NCI:C192088 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:9004397 ! Calcification of Aortic Valve [Term] id: DOID:0080334 name: aortic valve disease 2 def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. (DO)" [PMID:22275001 "DO"] synonym: "aortic valve stenosis" RELATED [] synonym: "AOVD2" EXACT [] synonym: "bicommissural aortic valve" EXACT [] xref: MIM:614823 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease [Term] id: DOID:0080335 name: mitochondrial DNA depletion syndrome 12b def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (DO)" [https://ghr.nlm.nih.gov/gene/SLC25A4#conditions "DO", PMID:22187496 "DO", PMID:27693233 "DO"] synonym: "autosomal recessive mitochondrial DNA depletion syndrome-12B" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" EXACT [] synonym: "MTDPS12B" EXACT [] xref: MIM:615418 xref: NCI:C129977 xref: ORDO:1369 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080336 name: mitochondrial DNA depletion syndrome 14 def: "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)" [PMID:26561570 "DO", PMID:28215579 "DO", PMID:28494813 "DO"] synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 14A (encephalomyopathic type)" NARROW [] synonym: "mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)" NARROW [] synonym: "MTDPS14" EXACT [] synonym: "MTDPS14A" NARROW [] synonym: "MTDPS14B" NARROW [] xref: MIM:616896 xref: MIM:621481 is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0080337 name: mitochondrial DNA depletion syndrome 15 alt_id: RDO:9001295 def: "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21. (DO)" [https://ghr.nlm.nih.gov/gene/TFAM#conditions "DO", PMID:27448789 "DO", PMID:28215579 "DO"] synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" EXACT [] synonym: "MTDPS15" EXACT [] synonym: "TFAM-RELATED CONDITION" EXACT [] xref: MIM:617156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:13413 ! hepatic encephalopathy is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080338 name: familial erythrocytosis 3 def: "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)" [PMID:16407130 "DO"] synonym: "ECYT3" EXACT [] synonym: "EGLN1-RELATED CONDITION" EXACT [] synonym: "GLRA2-RELATED CONDITION" EXACT [] xref: MESH:C565221 xref: MIM:609820 xref: MONDO:0012353 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080339 name: familial erythrocytosis 4 alt_id: MIM:611783 def: "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. (DO)" [PMID:18184961 "DO"] synonym: "ECYT4" EXACT [] synonym: "EPAS1-RELATED CONDITION" EXACT [] xref: MESH:C567086 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080342 name: Simpson-Golabi-Behmel syndrome type 2 def: "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. (DO)" [PMID:16783569 "DO"] synonym: "SGBS2" EXACT [] xref: MESH:C564567 xref: MIM:300209 xref: MONDO:0010265 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080343 name: autosomal recessive pyridoxine-refractory sideroblastic anemia 3 def: "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. (DO)" [MIM:616860 "DO"] synonym: "GLRX5-related condition" BROAD [] synonym: "pyridoxine-refractory sideroblastic anemia 3" EXACT [] synonym: "SIDBA3" EXACT [] synonym: "sideroblastic anemia-3" EXACT [] xref: MIM:616860 xref: MONDO:0014804 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0080344 name: blepharocheilodontic syndrome def: "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. (DO)" [PMID:28301459 "DO"] synonym: "Blepharo-Cheilo-Dontic Syndrome" EXACT [] synonym: "blepharo-cheilo-odontic syndrome" EXACT [] synonym: "Clefting, ectropion, and conical teeth" EXACT [] synonym: "ECTROPION INFERIOR CLEFT LIP AND OR PALATE" EXACT [] synonym: "Elschnig syndrome" EXACT [] synonym: "lagophthalmia with bilateral cleft lip and palate" EXACT [] xref: MESH:C536188 xref: MIM:PS119580 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1570 ! ectropion is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9004934 ! BILATERAL CLEFT LIP is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0080345 name: blepharocheilodontic syndrome 1 alt_id: RDO:9005143 def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. (DO)" [PMID:28301459 "DO"] synonym: "BCDS1" EXACT [] xref: MIM:119580 is_a: DOID:0080344 ! blepharocheilodontic syndrome [Term] id: DOID:0080346 name: blepharocheilodontic syndrome 2 def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)" [PMID:28301459 "DO"] synonym: "BCDS2" EXACT [] synonym: "CTNND1-RELATED CONDITION" EXACT [] xref: MIM:617681 is_a: DOID:0080344 ! blepharocheilodontic syndrome [Term] id: DOID:0080347 name: malignant pheochromocytoma def: "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. (DO)" [MIM:171300 "DO"] xref: EFO:1000348 xref: ICDO:8700/3 is_a: DOID:0050771 ! pheochromocytoma is_a: DOID:5719 ! adrenal medulla cancer [Term] id: DOID:0080348 name: Alzheimer's disease 1 alt_id: DOID:9005726 def: "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)" [MIM:104300 "DO"] synonym: "AD1" EXACT [] synonym: "Alzheimer's disease 1, early onset" EXACT [] synonym: "Alzheimer's disease, familial, 1" NARROW [] synonym: "Alzheimer's Disease Type 1" EXACT [] synonym: "Alzheimer disease 1" EXACT [] synonym: "Alzheimer disease type 1" EXACT [] synonym: "APP POLYMORPHISM" RELATED [] synonym: "APP-RELATED CONDITION" BROAD [] synonym: "BLEOMYCIN HYDROLASE POLYMORPHISM" RELATED [] synonym: "early-onset familial form of Alzheimer disease" EXACT [] synonym: "MPO-RELATED DISORDER" RELATED [] synonym: "PLAU-related disorder" RELATED [] xref: MESH:C536594 xref: MIM:104300 xref: MONDO:0007088 xref: NCI:C146894 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0080349 name: developmental and epileptic encephalopathy 39 alt_id: MIM:612949 def: "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)" [MIM:612949 "DO", PMID:19641205 "DO", PMID:24515575 "DO"] synonym: "AGC1 deficiency" EXACT [] synonym: "aspartate-glutamate carrier 1 deficiency" EXACT [] synonym: "DEE39" EXACT [] synonym: "early infantile epileptic encephalopathy 39" EXACT [] synonym: "EIEE39" EXACT [] synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [] synonym: "global cerebral hypomyelination" EXACT [] synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [] synonym: "SLC25A12-RELATED CONDITION" EXACT [] xref: MESH:C567847 xref: ORDO:353217 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:0080350 name: retinitis pigmentosa 77 def: "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. (DO)" [MIM:617304 "DO"] synonym: "REEP6-RELATED CONDITION" EXACT [] synonym: "RP77" EXACT [] xref: MIM:617304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0080351 name: CLOVES syndrome def: "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. (DO)" [PMID:25209813 "DO"] synonym: "Clove Syndrome" EXACT [] synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [] synonym: "Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities" EXACT [] xref: GARD:10939 xref: ICD10CM:Q87.3 xref: MESH:C567863 xref: MIM:612918 xref: MONDO:0013038 xref: ORDO:140944 is_a: DOID:225 ! syndrome is_a: DOID:3315 ! lipoma is_a: DOID:9002969 ! Nevus is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0080352 name: X-linked chondrodysplasia punctata 2 def: "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 "DO"] synonym: "atypical X-linked dominant chondrodysplasia punctata 2" NARROW [] synonym: "CDPX2" EXACT [] synonym: "CDPXD" EXACT [] synonym: "Conradi-Hunermann-Happle Syndrome" EXACT [] synonym: "Conradi Hunermann Syndrome" EXACT [] synonym: "Conradi Hünermann Happle syndrome" EXACT [] synonym: "Conradi Hünermann Syndrome" EXACT [] synonym: "CPXD" EXACT [] synonym: "Happle syndrome" EXACT [] synonym: "X-linked dominant chondrodysplasia punctata 2" EXACT [] xref: MIM:302960 xref: MONDO:0020603 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:0080353 name: X-linked recessive hypophosphatemic rickets def: "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets "DO"] xref: MIM:300554 xref: MONDO:0010358 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0080354 name: Phelan-McDermid syndrome alt_id: MIM:606232 def: "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)" [https://en.wikipedia.org/wiki/22q13_deletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1198/ "DO", ORDO:48652 "DO", PMID:29719671 "DO", PMID:29896732 "DO", PMID:30089781 "DO"] synonym: "22q13.3 deletion syndrome" EXACT [] synonym: "22q13 deletion syndrome" EXACT [] synonym: "chromosome 22q13.3 deletion syndrome" EXACT [] synonym: "monosomy 22q13" EXACT [] synonym: "monosomy 22q13 syndrome" EXACT [] synonym: "PHMDS" EXACT [] synonym: "SHANK3-RELATED CONDITION" BROAD [] synonym: "SHANK3-related disorder" BROAD [] synonym: "telomeric 22q13 monosomy syndrome" EXACT [] xref: GARD:10130 xref: MESH:C536801 xref: NCI:C157124 xref: ORDO:48652 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0080355 name: hepatobiliary system cancer def: "A gastrointestinal system cancer that is located_in the hepatobiliary system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/ "DO"] xref: EFO:0008550 is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0080356 name: IgG4-related disease def: "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. (DO)" [https://rarediseases.info.nih.gov/diseases/12521/index "DO", https://www.ncbi.nlm.nih.gov/articles/PMC4760655/ "DO", https://www.nejm.org/doi/full/10.1056/NEJMra1104650 "DO"] xref: GARD:12521 xref: NCI:C95992 xref: ORDO:284264 is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0080357 name: mitochondrial complex IV deficiency nuclear type 2 alt_id: MIM:604377 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. (DO)" [PMID:10746561 "DO"] synonym: "CEMCOX1" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1" EXACT [] synonym: "fatal infantile cytochrome c oxidase deficiency with cardioencephalomyopathy" EXACT [] synonym: "MC4DN2" EXACT [] synonym: "SCO2-RELATED CONDITION" BROAD [] xref: MESH:C565784 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080358 name: mitochondrial complex IV deficiency nuclear type 6 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. (DO)" [PMID:10545952 "DO"] synonym: "CEMCOX2" EXACT [] synonym: "COX15-RELATED CONDITION" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2" EXACT [] synonym: "MC4DN6" EXACT [] xref: MIM:615119 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080359 name: mitochondrial complex IV deficiency nuclear type 9 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)" [PMID:12928484 "DO"] synonym: "CEMCOX3" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3" EXACT [] synonym: "MC4DN9" EXACT [] xref: MIM:616500 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080360 name: mitochondrial complex IV deficiency nuclear type 13 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)" [PMID:25339201 "DO"] synonym: "CEMCOX4" EXACT [] synonym: "COA6-RELATED CONDITION" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4" EXACT [] synonym: "MC4DN13" EXACT [] xref: MIM:616501 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080361 name: trimethylaminuria def: "An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. (DO)" [https://ghr.nlm.nih.gov/condition/trimethylaminuria "DO", https://www.genome.gov/Genetic-Disorders/Trimethylaminuria "DO"] synonym: "fish malodor syndrome" EXACT [] synonym: "fish odor syndrome" EXACT [] synonym: "FMO3-related disorder" EXACT [] synonym: "stale fish syndrome" EXACT [] synonym: "TMAU" EXACT [] synonym: "TMAuria" EXACT [] xref: GARD:6447 xref: MESH:C536561 xref: MIM:602079 xref: MONDO:0011182 xref: ORDO:468726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080362 name: X-linked spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda "DO"] synonym: "SED tarda, X-linked" EXACT [] synonym: "TRAPPC2-related condition" BROAD [] synonym: "X-linked SED" EXACT [] synonym: "X-linked SEDT" EXACT [] xref: MIM:313400 xref: MONDO:0010737 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0080363 name: mitochondrial pyruvate carrier deficiency def: "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)" [PMID:22628558 "DO"] synonym: "MPC1-RELATED CONDITION" EXACT [] synonym: "MPYCD" EXACT [] xref: MIM:614741 xref: NCI:C202117 xref: ORDO:447784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3650 ! lactic acidosis is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0080364 name: malignant adenoma def: "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. (DO)" [PMID:18363065 "DO"] synonym: "malignant adenomas" EXACT [] is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:0080365 name: endometrial hyperplasia def: "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. (DO)" [https://en.wikipedia.org/wiki/Endometrial_hyperplasia "DO"] synonym: "endometrial hyperplasias" EXACT [] synonym: "simple endometrial hyperplasia" NARROW [] synonym: "simple endometrial hyperplasias" NARROW [] synonym: "Simple Endometrial Hyperplasia with Atypia" NARROW [] xref: EFO:1000098 xref: EFO:1000202 xref: EFO:1000525 xref: EFO:1000526 xref: MESH:D004714 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:1005 ! endometrial disease [Term] id: DOID:0080366 name: desmoid tumor def: "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. (DO)" [https://ghr.nlm.nih.gov/condition/desmoid-tumor "DO", https://rarediseases.org/rare-diseases/desmoid-tumor/ "DO", PMID:28489620 "DO"] xref: EFO:0009907 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:0080367 name: chronic eosinophilic leukemia def: "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)" [https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia "DO"] xref: EFO:1000178 xref: ICDO:9964/3 xref: NCI:C4563 is_a: DOID:1036 ! chronic leukemia is_a: DOID:9005977 ! Eosinophilic Leukemia [Term] id: DOID:0080368 name: sex cord-stromal benign neoplasm def: "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor "DO"] xref: MONDO:0024988 is_a: DOID:0050622 ! reproductive organ benign neoplasm [Term] id: DOID:0080369 name: ovarian sex-cord stromal tumor def: "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit "DO"] synonym: "Ovarian Sclerosing Stromal Tumor" NARROW [] synonym: "Ovarian Sex Cord Tumor with Annular Tubules" NARROW [] xref: EFO:1000424 xref: EFO:1000426 xref: EFO:1000430 xref: NCI:C4862 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:0080370 name: ovarian sex cord-stromal benign neoplasm def: "A sex cord-stromal benign neoplasm that arises from the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/ "DO"] xref: MONDO:0024387 xref: NCI:C6803 is_a: DOID:0080368 ! sex cord-stromal benign neoplasm [Term] id: DOID:0080371 name: testicular sex cord-stromal benign neoplasm def: "A sex cord-stromal benign neoplasm that arises from the testis. (DO)" [http://www.pathologyoutlines.com/topic/testissexcordgeneral.html "DO"] is_a: DOID:0080368 ! sex cord-stromal benign neoplasm [Term] id: DOID:0080372 name: epithelioid inflammatory myofibroblastic sarcoma def: "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. (DO)" [PMID:21164297 "DO"] is_a: DOID:0050905 ! inflammatory myofibroblastic tumor [Term] id: DOID:0080373 name: epididymis disease def: "A male reproductive system disease that is located_in the epididymis. (DO)" [https://en.wikipedia.org/wiki/Epididymis "DO"] is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:0080374 name: gastroesophageal cancer def: "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434 "DO"] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0080375 name: gastroesophageal adenocarcinoma def: "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797 "DO"] synonym: "gastric and esophageal adenocarcinoma" EXACT [] synonym: "gastro-esophageal adenocarcinoma" EXACT [] is_a: DOID:0080374 ! gastroesophageal cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0080376 name: trichorhinophalangeal syndrome type III alt_id: MIM:190351 def: "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)" [https://rarediseases.info.nih.gov/diseases/7802/disease "DO"] synonym: "Sugio-Kajii syndrome" EXACT [] synonym: "trichorhinophalangeal syndrome type 3" EXACT [] synonym: "TRPS1-RELATED DISORDER" BROAD [] synonym: "TRPS3" EXACT [] xref: MESH:C566033 xref: ORDO:77258 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:421 ! hair disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome [Term] id: DOID:0080377 name: peroxisomal biogenesis disorder def: "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. (DO)" [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder "DO", https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/ "DO", PMID:26627182 "DO"] synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX5 DEFECT" NARROW [] synonym: "peroxisome biogenesis disorders" EXACT [] xref: MESH:C536664 xref: MIM:PS214100 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0080379 name: nephrotic syndrome type 2 def: "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)" [PMID:10742096 "DO", PMID:8606597 "DO"] synonym: "nephrotic syndrome type 2, susceptibility to" RELATED [] synonym: "NPHS2" EXACT [] synonym: "NPHS2-RELATED CONDITION" EXACT [] synonym: "SRN1" EXACT [] synonym: "steroid-resistant nephrotic syndrome" EXACT [] synonym: "steroid-resistant nephrotic syndrome, autosomal recessive" EXACT [] synonym: "steroid-resistant nephrotic syndrome, familial idiopathic" EXACT [] synonym: "steroid-resistant nephrotic syndrome, idiopathic" EXACT [] xref: MESH:C536404 xref: MIM:600995 xref: MONDO:0010974 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080380 name: nephrotic syndrome type 5 alt_id: DOID:9007459 def: "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. (DO)" [PMID:16912710 "DO"] synonym: "Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities" EXACT [] synonym: "LAMB2-RELATED DISORDER" BROAD [] synonym: "LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME" BROAD [] synonym: "nephrotic syndrome type 5, with or without ocular abnormalities" EXACT [] synonym: "NPHS5" EXACT [] xref: MESH:C565405 xref: MIM:614199 xref: MONDO:0013621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001617 ! Congenital Nephrotic Syndrome with or without Ocular Abnormalities is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:0080381 name: nephrotic syndrome type 13 def: "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. (DO)" [PMID:26878725 "DO"] synonym: "NPHS13" EXACT [] synonym: "NUP205-RELATED CONDITION" EXACT [] xref: MIM:616893 xref: MONDO:0014818 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080382 name: nephrotic syndrome type 3 def: "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)" [PMID:17086182 "DO", PMID:18065803 "DO"] synonym: "early-onset nephrotic syndrome type 3" EXACT [] synonym: "NPHS3" EXACT [] synonym: "PLCE1-related condition" EXACT [] xref: MIM:610725 xref: MONDO:0012546 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080383 name: nephrotic syndrome type 4 def: "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. (DO)" [PMID:9529364 "DO"] synonym: "NPHS4" EXACT [] xref: MIM:256370 xref: MONDO:0009733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080384 name: nephrotic syndrome type 6 def: "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. (DO)" [PMID:21722858 "DO"] synonym: "NPHS6" EXACT [] synonym: "PTPRO-RELATED CONDITION" EXACT [] xref: MIM:614196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080385 name: nephrotic syndrome type 11 def: "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (DO)" [PMID:26411495 "DO"] synonym: "NPHS11" EXACT [] xref: MIM:616730 xref: MONDO:0014752 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080386 name: nephrotic syndrome type 10 def: "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. (DO)" [PMID:24814193 "DO"] synonym: "EMP2-related condition" BROAD [] synonym: "NPHS10" EXACT [] xref: MIM:615861 xref: MONDO:0014373 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080387 name: nephrotic syndrome type 12 def: "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. (DO)" [PMID:26878725 "DO"] synonym: "NPHS12" EXACT [] synonym: "NUP93-RELATED CONDITION" EXACT [] xref: MIM:616892 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080388 name: nephrotic syndrome type 7 def: "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)" [PMID:23274426 "DO"] synonym: "AHUS7" NARROW [] synonym: "AHUS, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "DGKE-related condition" BROAD [] synonym: "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "HEMOLYTIC UREMIC SYNDROME WITH DGKE DEFICIENCY" RELATED [] synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Ig-mediated MPGN" EXACT [] synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Immunoglobulin-mediated MPGN" EXACT [] synonym: "nephrotic syndrome type 7, with membranoproliferative glomerulonephritis" EXACT [] synonym: "nephrotic syndrome type 7, with membranoptoliferative glomerulonephritis" EXACT [] synonym: "NPHS7" EXACT [] xref: MIM:615008 xref: MONDO:0014005 xref: ORDO:329903 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:0080389 name: nephrotic syndrome type 8 def: "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. (DO)" [PMID:23434736 "DO", PMID:23867502 "DO"] synonym: "ARHGDIA-RELATED CONDITION" EXACT [] synonym: "NPHS8" EXACT [] xref: MIM:615244 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080390 name: nephrotic syndrome type 1 def: "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. (DO)" [PMID:10577936 "DO", PMID:9660941 "DO"] synonym: "congenital nephrosis 1, Finnish type" EXACT [] synonym: "Congenital nephrotic syndrome 1" EXACT [] synonym: "Congenital nephrotic syndrome, Finnish type" EXACT [] synonym: "Finnish congenital nephrosis" EXACT [] synonym: "Finnish congenital nephrotic syndrome" EXACT [] synonym: "idiopathic nephrotic syndrome" EXACT [] synonym: "NPHS1" EXACT [] synonym: "NPHS1-RELATED CONDITION" EXACT [] xref: GARD:1500 xref: MIM:256300 xref: NCI:C122795 xref: NCI:C122796 xref: ORDO:839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080391 name: nephrotic syndrome type 9 def: "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)" [PMID:24270420 "DO"] synonym: "COQ8B-RELATED CONDITION" EXACT [] synonym: "NPHS9" EXACT [] xref: MIM:615573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080392 name: nephrotic syndrome type 17 def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)" [PMID:30179222 "DO"] synonym: "NPHS17" EXACT [] synonym: "NUP85-RELATED CONDITION" EXACT [] xref: MIM:618176 xref: MONDO:0032580 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080393 name: nephrotic syndrome type 18 def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. (DO)" [PMID:30179222 "DO"] synonym: "NPHS18" EXACT [] synonym: "NUP133-RELATED CONDITION" BROAD [] xref: MIM:618177 xref: MONDO:0032581 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080394 name: nephrotic syndrome type 19 def: "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. (DO)" [PMID:30179222 "DO"] synonym: "NPHS19" EXACT [] synonym: "NUP160-RELATED CONDITION" EXACT [] xref: MIM:618178 xref: MONDO:0032582 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080395 name: orofacial cleft 1 alt_id: MIM:119530 def: "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)" [PMID:7711723 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 1" EXACT [] synonym: "OFC1" EXACT [] xref: MESH:C566121 xref: NCI:C124838 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080396 name: orofacial cleft 2 alt_id: MIM:602966 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. (DO)" [PMID:2570526 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 2" EXACT [] synonym: "OFC2" EXACT [] xref: MESH:C566419 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080397 name: orofacial cleft 3 alt_id: MIM:600757 def: "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. (DO)" [PMID:7668251 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 3" EXACT [] synonym: "OFC3" EXACT [] xref: MESH:C563448 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080398 name: orofacial cleft 4 def: "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. (DO)" [PMID:12087515 "DO", PMID:7820940 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 4" EXACT [] synonym: "OFC4" EXACT [] xref: MESH:C564251 xref: MIM:608371 xref: MONDO:0012022 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080399 name: orofacial cleft 5 def: "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. (DO)" [PMID:10742093 "DO", PMID:12807959 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 5" EXACT [] synonym: "OFC5" EXACT [] xref: MESH:C563843 xref: MIM:608874 xref: MONDO:0012142 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080400 name: orofacial cleft 7 def: "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)" [PMID:10932188 "DO"] xref: MESH:C563464 xref: MONDO:0700251 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0080401 name: orofacial cleft 8 alt_id: MIM:618149 def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [PMID:29500247 "DO"] xref: MESH:C565069 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080402 name: orofacial cleft 9 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. (DO)" [PMID:16909398 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 9" EXACT [] synonym: "OFC9" EXACT [] xref: MESH:C563675 xref: MIM:610361 xref: MONDO:0012478 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080403 name: orofacial cleft 10 alt_id: MIM:613705 def: "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. (DO)" [PMID:16990542 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 10" EXACT [] synonym: "OFC10" EXACT [] xref: MESH:C566605 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080404 name: orofacial cleft 11 alt_id: MIM:600625 def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. (DO)" [PMID:19249007 "DO"] synonym: "BMP4-RELATED CONDITION" BROAD [] synonym: "CHCL" NARROW [] synonym: "CONGENITAL HEALED CLEFT LIP" NARROW [] synonym: "nonsyndromic cleft lip with or without cleft palate 11" EXACT [] synonym: "OFC11" EXACT [] xref: MESH:C567410 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080405 name: orofacial cleft 12 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. (DO)" [PMID:19270707 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 12" EXACT [] synonym: "OFC12" EXACT [] xref: MESH:C567548 xref: MIM:612858 xref: MONDO:0013023 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080406 name: orofacial cleft 13 def: "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. (DO)" [PMID:21295280 "DO"] synonym: "OFC13" EXACT [] xref: MIM:613857 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080407 name: orofacial cleft 14 def: "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. (DO)" [ORDO:401942 "DO"] synonym: "OFC14" EXACT [] xref: MIM:615892 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080408 name: orofacial cleft 15 def: "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. (DO)" [PMID:25954033 "DO"] synonym: "DLX4-RELATED CONDITION" EXACT [] synonym: "OFC15" EXACT [] xref: MIM:616788 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080409 name: familial adenomatous polyposis 1 def: "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. (DO)" [https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis "DO", PMID:1651563 "DO"] synonym: "adenocarcinoma in adenomatous polyposis coli" EXACT [] synonym: "FAP1" EXACT [] xref: ICDO:8220/3 xref: MIM:175100 xref: MONDO:0021056 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080410 name: familial adenomatous polyposis 2 alt_id: MIM:608456 def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. (DO)" [PMID:12853198 "DO"] synonym: "Colorectal Adenomatous Polyposis, Autosomal Recessive" EXACT [] synonym: "COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS" NARROW [] synonym: "FAP2" EXACT [] synonym: "multiple colorectal adenomas, autosomal recessive" EXACT [] synonym: "mutyh-associated polyposis" EXACT [] synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT [] synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [] synonym: "MUTYH-related attenuated FAP" EXACT [] synonym: "MUTYH-RELATED CONDITION" BROAD [] xref: EFO:0009296 xref: ICD10CM:D12.6 xref: MESH:C563924 xref: ORDO:247798 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080411 name: familial adenomatous polyposis 3 def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. (DO)" [PMID:25938944 "DO"] synonym: "FAP3" EXACT [] synonym: "NTHL1-DEFICIENCY TUMOR PREDISPOSITION SYNDROME" EXACT [] synonym: "NTHL1-RELATED CONDITION" EXACT [] xref: MIM:616415 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080412 name: familial adenomatous polyposis 4 def: "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. (DO)" [PMID:27476653 "DO"] synonym: "FAP4" EXACT [] synonym: "MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" EXACT [] synonym: "MSH3-RELATED CONDITION" BROAD [] xref: MIM:617100 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080413 name: developmental and epileptic encephalopathy 18 def: "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. (DO)" [PMID:23932106 "DO"] synonym: "DEE18" EXACT [] synonym: "early infantile epileptic encephalopathy 18" EXACT [] synonym: "EIEE18" EXACT [] synonym: "SZT2-RELATED CONDITION" EXACT [] xref: GARD:13676 xref: MIM:615476 xref: NCI:C206098 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080414 name: developmental and epileptic encephalopathy 15 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)" [PMID:23252400 "DO"] synonym: "DEE15" EXACT [] synonym: "early infantile epileptic encephalopathy 15" EXACT [] synonym: "EIEE15" EXACT [] synonym: "epilepsy due to perinatal stroke" NARROW [] synonym: "ST3GAL3-RELATED CONDITION" BROAD [] xref: MIM:615006 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080415 name: developmental and epileptic encephalopathy 23 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)" [PMID:24814191 "DO"] synonym: "DEE23" EXACT [] synonym: "early infantile epileptic encephalopathy 23" EXACT [] synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [] synonym: "EIEE23" EXACT [] synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [] xref: MIM:615859 xref: MONDO:0014371 xref: ORDO:411986 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080416 name: developmental and epileptic encephalopathy 32 def: "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. (DO)" [PMID:25751627 "DO"] synonym: "DEE32" EXACT [] synonym: "early infantile epileptic encephalopathy 32" EXACT [] synonym: "EIEE32" EXACT [] synonym: "KCNA2-RELATED CONDITION" EXACT [] synonym: "KCNA2-RELATED DISORDER" EXACT [] xref: MIM:616366 xref: NCI:C155998 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080417 name: developmental and epileptic encephalopathy 38 def: "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (DO)" [PMID:25558065 "DO", PMID:27270415 "DO", PMID:32165008 "DO"] synonym: "ARV1-related condition" BROAD [] synonym: "DEE38" EXACT [] synonym: "early infantile epileptic encephalopathy 38" EXACT [] synonym: "EIEE38" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 23" EXACT [] synonym: "GPIBD23" EXACT [] xref: MIM:617020 xref: MONDO:0014868 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency [Term] id: DOID:0080418 name: developmental and epileptic encephalopathy 54 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. (DO)" [PMID:27652284 "DO"] synonym: "DEE54" EXACT [] synonym: "early infantile epileptic encephalopathy 54" EXACT [] synonym: "EIEE54" EXACT [] xref: MIM:617391 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080419 name: developmental and epileptic encephalopathy 50 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. (DO)" [PMID:28007989 "DO"] synonym: "CAD-related condition" BROAD [] synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [] synonym: "CDG1Z" EXACT [] synonym: "CDG-Iz" EXACT [] synonym: "CDG syndrome type Iz" EXACT [] synonym: "congenital disorder of glycosylation type 1Z" EXACT [] synonym: "congenital disorder of glycosylation type Iz" EXACT [] synonym: "DEE50" EXACT [] synonym: "early infantile epileptic encephalopathy 50" EXACT [] synonym: "EIEE50" EXACT [] xref: GARD:13621 xref: MIM:616457 xref: MONDO:0014647 xref: NCI:C190868 xref: ORDO:448010 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:0080420 name: developmental and epileptic encephalopathy 62 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)" [PMID:29466837 "DO"] synonym: "DEE62" EXACT [] synonym: "early infantile epileptic encephalopathy 62" EXACT [] synonym: "EIEE62" EXACT [] synonym: "SCN3A-RELATED CONDITION" BROAD [] synonym: "SCN3A-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:617938 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080421 name: developmental and epileptic encephalopathy 11 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. (DO)" [PMID:19786696 "DO"] synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "DEE11" EXACT [] synonym: "early infantile epileptic encephalopathy 11" EXACT [] synonym: "EIEE11" EXACT [] synonym: "EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES" NARROW [] synonym: "SCN2A-related disorder" BROAD [] synonym: "SCN2A-RELATED GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS" EXACT [] xref: MIM:613721 xref: MONDO:0013388 xref: NCI:C172096 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080422 name: Dravet syndrome alt_id: DOID:0060171 def: "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)" [https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome "DO", PMID:11359211 "DO", PMID:27544470 "DO"] synonym: "DEE6" EXACT [] synonym: "DEE6A" EXACT [] synonym: "developmental and epileptic encephalopathy 6" EXACT [] synonym: "developmental and epileptic encephalopathy 6A" EXACT [] synonym: "Dravet syndromes" EXACT [] synonym: "early infantile epileptic encephalopathy 6" EXACT [] synonym: "EIEE6" EXACT [] synonym: "severe myoclonic epilepsy in infancy" EXACT [] synonym: "severe myoclonic epilepsy of infancy" EXACT [] synonym: "SMEI" EXACT [] xref: GARD:10430 xref: MIM:607208 xref: NCI:C116573 xref: NCI:C147071 xref: ORDO:33069 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0080424 name: developmental and epileptic encephalopathy 44 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)" [PMID:27545674 "DO", PMID:27545681 "DO"] synonym: "DEE44" EXACT [] synonym: "early infantile epileptic encephalopathy 44" EXACT [] synonym: "EIEE44" EXACT [] synonym: "UBA5-related condition" BROAD [] xref: MIM:617132 xref: MONDO:0014933 xref: NCI:C202547 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080425 name: developmental and epileptic encephalopathy 47 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (DO)" [PMID:27164707 "DO", PMID:27872899 "DO"] synonym: "DEE47" EXACT [] synonym: "early infantile epileptic encephalopathy 47" EXACT [] synonym: "EIEE47" EXACT [] synonym: "FGF12-related condition" BROAD [] xref: MIM:617166 xref: MONDO:0014949 xref: NCI:C201514 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080426 name: developmental and epileptic encephalopathy 63 def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (DO)" [PMID:26539891 "DO", PMID:28422131 "DO"] synonym: "CPLX1-RELATED CONDITION" EXACT [] synonym: "DEE63" EXACT [] synonym: "early infantile epileptic encephalopathy 63" EXACT [] synonym: "EIEE63" EXACT [] xref: MIM:617976 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080427 name: developmental and epileptic encephalopathy 40 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. (DO)" [PMID:26486472 "DO"] synonym: "DEE40" EXACT [] synonym: "early infantile epileptic encephalopathy 40" EXACT [] synonym: "EIEE40" EXACT [] synonym: "GUF1-RELATED CONDITION" EXACT [] xref: MIM:617065 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080428 name: developmental and epileptic encephalopathy 45 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)" [PMID:23934111 "DO", PMID:31618474 "DO"] synonym: "DEE45" EXACT [] synonym: "early infantile epileptic encephalopathy 45" EXACT [] synonym: "EIEE45" EXACT [] synonym: "GABRB1-related condition" BROAD [] xref: MIM:617153 xref: MONDO:0014942 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080429 name: developmental and epileptic encephalopathy 24 def: "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (DO)" [PMID:24747641 "DO", PMID:30351409 "DO"] synonym: "DEE24" EXACT [] synonym: "early infantile epileptic encephalopathy 24" EXACT [] synonym: "EIEE24" EXACT [] synonym: "HCN1-RELATED DISORDER" BROAD [] xref: MIM:615871 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080430 name: developmental and epileptic encephalopathy 65 def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. (DO)" [PMID:29534297 "DO"] synonym: "CYFIP2-RELATED CONDITION" EXACT [] synonym: "CYFIP2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "DEE65" EXACT [] synonym: "early infantile epileptic encephalopathy 65" EXACT [] synonym: "EIEE65" EXACT [] xref: MIM:618008 xref: NCI:C201518 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080431 name: developmental and epileptic encephalopathy 19 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. (DO)" [PMID:24623842 "DO"] synonym: "DEE19" EXACT [] synonym: "early infantile epileptic encephalopathy 19" EXACT [] synonym: "EIEE19" EXACT [] synonym: "GABRA1-RELATED DISORDER" BROAD [] xref: MIM:615744 xref: NCI:C142802 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080432 name: developmental and epileptic encephalopathy 60 def: "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. (DO)" [PMID:29394991 "DO"] synonym: "DEE60" EXACT [] synonym: "early infantile epileptic encephalopathy 60" EXACT [] synonym: "EIEE60" EXACT [] xref: MIM:617929 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080433 name: developmental and epileptic encephalopathy 51 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. (DO)" [PMID:27989324 "DO"] synonym: "DEE51" EXACT [] synonym: "early infantile epileptic encephalopathy 51" EXACT [] synonym: "EIEE51" EXACT [] synonym: "MDH2-related condition" BROAD [] xref: MIM:617339 xref: MONDO:0015025 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080434 name: developmental and epileptic encephalopathy 61 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. (DO)" [PMID:27066583 "DO"] synonym: "ADAM22-RELATED CONDITION" EXACT [] synonym: "DEE61" EXACT [] synonym: "early infantile epileptic encephalopathy 61" EXACT [] synonym: "EIEE61" EXACT [] xref: MIM:617933 xref: MONDO:0033370 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080435 name: developmental and epileptic encephalopathy 37 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. (DO)" [PMID:27236917 "DO"] synonym: "DEE37" EXACT [] synonym: "early infantile epileptic encephalopathy 37" EXACT [] synonym: "EIEE37" EXACT [] xref: MIM:616981 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080436 name: developmental and epileptic encephalopathy 4 def: "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (DO)" [PMID:18469812 "DO", PMID:19557857 "DO"] synonym: "DEE4" EXACT [] synonym: "early infantile epileptic encephalopathy 4" EXACT [] synonym: "EIEE4" EXACT [] synonym: "STXBP1-associated neurodevelopmental disorder" BROAD [] synonym: "STXBP1-related disorder" EXACT [] xref: MESH:C567404 xref: MIM:612164 xref: MONDO:0012812 xref: NCI:C162472 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080437 name: developmental and epileptic encephalopathy 31A def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (DO)" [PMID:25262651 "DO", PMID:25533962 "DO"] synonym: "DEE31" EXACT [] synonym: "DEE31A" EXACT [] synonym: "developmental and epileptic encephalopathy 31" EXACT [] synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [] synonym: "early infantile epileptic encephalopathy 31" EXACT [] synonym: "EIEE31" EXACT [] xref: MIM:616346 xref: MONDO:0014598 xref: NCI:C185237 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080438 name: developmental and epileptic encephalopathy 5 def: "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [PMID:20493457 "DO"] synonym: "DEE5" EXACT [] synonym: "early infantile epileptic encephalopathy 5" EXACT [] synonym: "EIEE5" EXACT [] xref: MIM:613477 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080439 name: developmental and epileptic encephalopathy 14 def: "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)" [PMID:23086397 "DO"] synonym: "DEE14" EXACT [] synonym: "early infantile epileptic encephalopathy 14" EXACT [] synonym: "EIEE14" EXACT [] synonym: "KCNT1-RELATED DISORDER" BROAD [] synonym: "malignant migrating partial seizures of infancy" EXACT [] synonym: "MMPSI" EXACT [] xref: MIM:614959 xref: NCI:C188141 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080440 name: developmental and epileptic encephalopathy 3 alt_id: MIM:609304 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. (DO)" [PMID:15592994 "DO"] synonym: "DEE3" EXACT [] synonym: "early infantile epileptic encephalopathy 3" EXACT [] synonym: "EIEE3" EXACT [] synonym: "neonatal myoclonic epilepsy with suppression-burst pattern" EXACT [] synonym: "SLC25A22-RELATED DISORDER" EXACT [] xref: MESH:C562695 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:308 ! early myoclonic encephalopathy [Term] id: DOID:0080441 name: developmental and epileptic encephalopathy 49 def: "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. (DO)" [PMID:27866705 "DO"] synonym: "DEE49" EXACT [] synonym: "DENND5A-RELATED CONDITION" EXACT [] synonym: "early infantile epileptic encephalopathy 49" EXACT [] synonym: "EIEE49" EXACT [] xref: MIM:617281 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080442 name: developmental and epileptic encephalopathy 41 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. (DO)" [PMID:27476654 "DO"] synonym: "DEE41" EXACT [] synonym: "early infantile epileptic encephalopathy 41" EXACT [] synonym: "EIEE41" EXACT [] synonym: "SLC1A2-RELATED CONDITION" EXACT [] xref: MIM:617105 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080443 name: developmental and epileptic encephalopathy 21 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (DO)" [PMID:24399846 "DO", PMID:30525121 "DO"] synonym: "DEE21" EXACT [] synonym: "early infantile epileptic encephalopathy 21" EXACT [] synonym: "EIEE21" EXACT [] synonym: "NECAP1-RELATED DISORDER" EXACT [] xref: MIM:615833 xref: MONDO:0014360 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080444 name: developmental and epileptic encephalopathy 27 def: "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (DO)" [PMID:24272827 "DO", PMID:28377535 "DO"] synonym: "DEE27" EXACT [] synonym: "developmental delay with intractable seizures" RELATED [] synonym: "early infantile epileptic encephalopathy 27" EXACT [] synonym: "EIEE27" EXACT [] synonym: "GRIN2B-RELATED CONDITION" BROAD [] synonym: "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER" BROAD [] synonym: "GRIN2B-RELATED DISORDER" BROAD [] xref: MIM:616139 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080445 name: developmental and epileptic encephalopathy 13 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)" [PMID:22365152 "DO", PMID:24888894 "DO"] synonym: "DEE13" EXACT [] synonym: "early infantile epileptic encephalopathy 13" EXACT [] synonym: "EIEE13" EXACT [] xref: MIM:614558 xref: MONDO:0013801 xref: NCI:C188139 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: rgd creation_date: 2017-10-03T16:31:06Z [Term] id: DOID:0080446 name: developmental and epileptic encephalopathy 66 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. (DO)" [PMID:29656858 "DO"] synonym: "DEE66" EXACT [] synonym: "early infantile epileptic encephalopathy 66" EXACT [] synonym: "EIEE66" EXACT [] synonym: "PACS2-RELATED CONDITION" EXACT [] xref: MIM:618067 xref: NCI:C198576 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080447 name: developmental and epileptic encephalopathy 43 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (DO)" [PMID:23934111 "DO", PMID:27476654 "DO"] synonym: "DEE43" EXACT [] synonym: "early infantile epileptic encephalopathy 43" EXACT [] synonym: "EIEE43" EXACT [] xref: MIM:617113 xref: NCI:C215153 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080448 name: developmental and epileptic encephalopathy 48 def: "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. (DO)" [PMID:27889060 "DO"] synonym: "AP3B2-RELATED CONDITION" EXACT [] synonym: "DEE48" EXACT [] synonym: "early infantile epileptic encephalopathy 48" EXACT [] synonym: "EIEE48" EXACT [] xref: MIM:617276 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080449 name: developmental and epileptic encephalopathy 16 def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [PMID:21087195 "DO", PMID:23526554 "DO"] synonym: "DEE16" EXACT [] synonym: "early infantile epileptic encephalopathy 16" EXACT [] synonym: "EIEE16" EXACT [] xref: MIM:615338 xref: MONDO:0014133 xref: ORDO:352596 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080450 name: developmental and epileptic encephalopathy 17 def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. (DO)" [PMID:23993195 "DO"] synonym: "DEE17" EXACT [] synonym: "early infantile epileptic encephalopathy 17" EXACT [] synonym: "EIEE17" EXACT [] synonym: "GNAO1-RELATED CONDITION" BROAD [] xref: MIM:615473 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080451 name: developmental and epileptic encephalopathy 29 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)" [PMID:25817015 "DO"] synonym: "DEE29" EXACT [] synonym: "early infantile epileptic encephalopathy 29" EXACT [] synonym: "EIEE29" EXACT [] xref: MIM:616339 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080452 name: developmental and epileptic encephalopathy 28 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (DO)" [PMID:24456803 "DO", PMID:25411445 "DO"] synonym: "DEE28" EXACT [] synonym: "early infantile epileptic encephalopathy 28" EXACT [] synonym: "EIEE28" EXACT [] xref: MIM:616211 xref: MONDO:0014533 xref: NCI:C189273 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080453 name: developmental and epileptic encephalopathy 25 def: "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)" [PMID:24995870 "DO", PMID:27600704 "DO"] synonym: "DEE25" EXACT [] synonym: "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta" EXACT [] synonym: "early infantile epileptic encephalopathy 25" EXACT [] synonym: "early infantile epileptic encephalopathy 25 with amelogenesis imperfecta" EXACT [] synonym: "EIEE25" EXACT [] xref: GARD:12901 xref: MIM:615905 xref: NCI:C168597 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy creation_date: 2015-12-09T11:46:39Z [Term] id: DOID:0080454 name: developmental and epileptic encephalopathy 42 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)" [PMID:27476654 "DO"] synonym: "CACNA1A-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "DEE42" EXACT [] synonym: "early infantile epileptic encephalopathy 42" EXACT [] synonym: "EIEE42" EXACT [] xref: MIM:617106 xref: NCI:C188142 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080455 name: developmental and epileptic encephalopathy 52 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)" [PMID:19710327 "DO"] synonym: "DEE52" EXACT [] synonym: "early infantile epileptic encephalopathy 52" EXACT [] synonym: "EIEE52" EXACT [] xref: MIM:617350 xref: MONDO:0033361 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080456 name: developmental and epileptic encephalopathy 46 def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (DO)" [PMID:27616483 "DO", PMID:30280376 "DO"] synonym: "DEE46" EXACT [] synonym: "early infantile epileptic encephalopathy 46" EXACT [] synonym: "EIEE46" EXACT [] synonym: "GRIN2D-RELATED CONDITION" EXACT [] xref: MIM:617162 xref: NCI:C177545 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080457 name: microcephaly, seizures, and developmental delay def: "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)" [PMID:20118933 "DO", PMID:23224214 "DO"] synonym: "DEE10" EXACT [] synonym: "developmental and epileptic encephalopathy 10" EXACT [] synonym: "early infantile epileptic encephalopathy 10" EXACT [] synonym: "EIEE10" EXACT [] synonym: "MCSZ" EXACT [] xref: MIM:613402 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0080458 name: developmental and epileptic encephalopathy 35 def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. (DO)" [PMID:26224535 "DO"] synonym: "DEE35" EXACT [] synonym: "early infantile epileptic encephalopathy 35" EXACT [] synonym: "EIEE35" EXACT [] synonym: "ITPA-related encephalopathy" EXACT [] xref: MIM:616647 xref: ORDO:457375 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080459 name: developmental and epileptic encephalopathy 12 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)" [PMID:20833646 "DO", PMID:22690784 "DO"] synonym: "DEE12" EXACT [] synonym: "early infantile epileptic encephalopathy 12" EXACT [] synonym: "EIEE12" EXACT [] synonym: "PLCB1-RELATED DISORDER" EXACT [] xref: MIM:613722 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080460 name: developmental and epileptic encephalopathy 34 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. (DO)" [PMID:26333769 "DO"] synonym: "DEE34" EXACT [] synonym: "early infantile epileptic encephalopathy 34" EXACT [] synonym: "EIEE34" EXACT [] synonym: "SLC12A5-RELATED DISORDER" BROAD [] xref: MIM:616645 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080461 name: developmental and epileptic encephalopathy 26 def: "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)" [PMID:25164438 "DO"] synonym: "DEE26" EXACT [] synonym: "early infantile epileptic encephalopathy 26" EXACT [] synonym: "EIEE26" EXACT [] synonym: "epileptic encephalopathy-26" EXACT [] synonym: "KCNB1-related disorder" EXACT [] xref: GARD:12391 xref: MIM:616056 xref: NCI:C175047 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080462 name: developmental and epileptic encephalopathy 7 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. (DO)" [PMID:15249611 "DO"] synonym: "DEE7" EXACT [] synonym: "early infantile epileptic encephalopathy 7" EXACT [] synonym: "EIEE7" EXACT [] synonym: "KCNQ2-related condition" BROAD [] synonym: "KCNQ2-related epileptic encephalopathy" EXACT [] synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [] xref: MIM:613720 xref: MONDO:0013387 xref: NCI:C192087 xref: ORDO:439218 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080463 name: developmental and epileptic encephalopathy 33 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. (DO)" [PMID:23033978 "DO"] synonym: "DEE33" EXACT [] synonym: "early infantile epileptic encephalopathy 33" EXACT [] synonym: "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY" BROAD [] synonym: "EEF1A2-RELATED DISORDER" BROAD [] synonym: "EIEE33" EXACT [] xref: MIM:616409 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080464 name: developmental and epileptic encephalopathy 53 def: "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)" [PMID:27435091 "DO"] synonym: "DEE53" EXACT [] synonym: "early infantile epileptic encephalopathy 53" EXACT [] synonym: "EIEE53" EXACT [] xref: MIM:617389 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080465 name: developmental and epileptic encephalopathy 30 def: "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. (DO)" [PMID:25839329 "DO"] synonym: "DEE30" EXACT [] synonym: "early infantile epileptic encephalopathy 30" EXACT [] synonym: "EIEE30" EXACT [] xref: MIM:616341 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080467 name: developmental and epileptic encephalopathy 2 def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)" [PMID:15492925 "DO", PMID:22872100 "DO"] synonym: "atypical Rett Syndrome, CDKL5-related" EXACT [] synonym: "CDKL5 disorder" BROAD [] synonym: "CDKL5-related condition" BROAD [] synonym: "CDKL5-RELATED DISORDER" EXACT [] synonym: "DEE2" EXACT [] synonym: "early infantile epileptic encephalopathy 2" EXACT [] synonym: "EIEE2" EXACT [] synonym: "ISSX2" EXACT [] synonym: "Rett syndrome, variant, with infantile spasms" EXACT [] synonym: "X-linked dominant infantile spasm syndrome-2" EXACT [] synonym: "X-linked infantile spasm syndrome 2" EXACT [] xref: MESH:C564064 xref: MIM:300672 xref: MONDO:0010396 xref: NCI:C147070 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:1206 ! Rett syndrome [Term] id: DOID:0080468 name: developmental and epileptic encephalopathy 1 alt_id: MIM:308350 def: "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)" [PMID:11889467 "DO", PMID:17668384 "DO"] synonym: "DEE1" EXACT [] synonym: "early infantile epileptic encephalopathy 1" EXACT [] synonym: "EIEE1" EXACT [] synonym: "infantile epileptic-dyskinetic encephalopathy" EXACT [] synonym: "ISSX1" EXACT [] synonym: "X-linked infantile spasms" EXACT [] synonym: "X-linked infantile spasm syndrome" EXACT [] synonym: "X-linked infantile spasm syndrome, 1" EXACT [] synonym: "X-linked Ohtahara syndrome" EXACT [] synonym: "X-linked West syndrome" EXACT [] synonym: "XMESID" EXACT [] xref: MESH:C567924 xref: NCI:C179866 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080470 name: developmental and epileptic encephalopathy 36 def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)" [PMID:23033978 "DO", PMID:26138355 "DO"] synonym: "ALG13-RELATED CONDITION" EXACT [] synonym: "CDG1S" NARROW [] synonym: "CDG Is" NARROW [] synonym: "CDGIs" NARROW [] synonym: "congenital disorder of glycosylation type 1S" NARROW [] synonym: "congenital disorder of glycosylation type Is" NARROW [] synonym: "DEE36" EXACT [] synonym: "early infantile epileptic encephalopathy 36" EXACT [] synonym: "EIEE36" EXACT [] xref: GARD:12401 xref: MIM:300884 xref: NCI:C142803 xref: ORDO:324422 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080471 name: developmental and epileptic encephalopathy 92 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (DO)" [PMID:25124326 "DO", PMID:29100083 "DO"] synonym: "DEE92" EXACT [] synonym: "IECEE2" EXACT [] synonym: "infantile or early childhood epileptic encephalopathy 2" EXACT [] xref: MIM:617829 xref: MONDO:0020631 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080472 name: developmental and epileptic encephalopathy 91 def: "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. (DO)" [PMID:28942967 "DO"] synonym: "DEE91" EXACT [] synonym: "IECEE1" EXACT [] synonym: "infantile or early childhood epileptic encephalopathy 1" EXACT [] synonym: "PPP3CA-RELATED CONDITION" BROAD [] xref: MIM:617711 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080473 name: developmental delay and seizures with or without movement abnormalities def: "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. (DO)" [PMID:29100083 "DO"] synonym: "DEDSM" EXACT [] synonym: "DHDDS-related condition" BROAD [] xref: MIM:617836 xref: MONDO:0044326 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:0080474 name: pustular psoriasis 14 def: "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. (DO)" [PMID:21848462 "DO"] synonym: "acrodermatitis continua of Hallopeau" EXACT [] synonym: "acute generalised pustular psoriasis" EXACT [] synonym: "deficiency of IL-36R antagonist" EXACT [] synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT [] synonym: "DITRA" EXACT [] synonym: "generalized pustular psoriasis" EXACT [] synonym: "generalized pustular psoriasis of von Zumbusch" EXACT [] synonym: "GPP" EXACT [] synonym: "IL36RN-related condition" BROAD [] synonym: "interleukin 36 receptor antagonist deficiency" EXACT [] synonym: "palmoplantar pustulosis" BROAD [] synonym: "PSORP" EXACT [] synonym: "PSORS14" EXACT [] synonym: "von Zumbusch psoriasis" EXACT [] xref: MIM:614204 xref: MONDO:0013626 xref: NCI:C202121 xref: ORDO:404546 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0080475 name: psoriasis 2 def: "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. (DO)" [PMID:22521418 "DO"] synonym: "CARD14-RELATED CONDITION" BROAD [] synonym: "PAPULOSQUAMOUS ERUPTIONS" NARROW [] synonym: "Psoriasis Susceptibility 2" EXACT [] synonym: "PSORS2" EXACT [] xref: MIM:602723 xref: MONDO:0011269 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0080476 name: peroxisome biogenesis disorder 1A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)" [PMID:17055079 "DO"] synonym: "CG1" RELATED [] synonym: "CGE" RELATED [] synonym: "PBD1A" EXACT [] synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 1" RELATED [] synonym: "peroxisome biogenesis disorder, complementation group E" RELATED [] xref: MIM:214100 xref: MONDO:0008953 xref: NCI:C155748 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080477 name: peroxisome biogenesis disorder 2A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. (DO)" [PMID:17055079 "DO"] synonym: "CG2" NARROW [] synonym: "PBD2A" EXACT [] synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 2" NARROW [] xref: MIM:214110 xref: NCI:C155750 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080478 name: peroxisome biogenesis disorder 3A alt_id: MIM:614859 def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)" [PMID:17055079 "DO"] synonym: "CG3" NARROW [] synonym: "PBD3A" EXACT [] synonym: "PDB3A" NARROW [] synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 3" NARROW [] xref: MESH:C566633 xref: NCI:C155752 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080479 name: peroxisome biogenesis disorder 4A alt_id: MIM:614862 def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. (DO)" [PMID:17055079 "DO"] synonym: "CG4" NARROW [] synonym: "CG6" NARROW [] synonym: "CGC" NARROW [] synonym: "PBD4A" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 4" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 6" NARROW [] synonym: "peroxisome biogenesis disorder, complementation group C" NARROW [] xref: MESH:C563301 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080480 name: peroxisome biogenesis disorder 5A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. (DO)" [PMID:17055079 "DO"] synonym: "CG5" BROAD [] synonym: "CGF" BROAD [] synonym: "PBD5A" EXACT [] synonym: "Peroxisome Biogenesis Disorder 5A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 5" BROAD [] synonym: "peroxisome biogenesis disorder, complementation group F" BROAD [] synonym: "PEX2-RELATED CONDITION" BROAD [] xref: MIM:614866 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080481 name: peroxisome biogenesis disorder 6A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)" [PMID:17055079 "DO"] synonym: "PBD6A" EXACT [] synonym: "Peroxisome Biogenesis Disorder 6A (Zellweger)" EXACT [] xref: MIM:614870 xref: MONDO:0013936 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080482 name: peroxisome biogenesis disorder 7A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. (DO)" [PMID:17055079 "DO"] synonym: "CG8" NARROW [] synonym: "CGA" NARROW [] synonym: "PBD7A" EXACT [] synonym: "Peroxisome Biogenesis Disorder 7A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 8" NARROW [] synonym: "peroxisome biogenesis disorder, complementation group A" NARROW [] xref: MIM:614872 xref: NCI:C155760 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080483 name: peroxisome biogenesis disorder 8A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)" [PMID:17055079 "DO"] synonym: "PBD8A" EXACT [] synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT" BROAD [] synonym: "PEX16-RELATED DISORDER" BROAD [] xref: MIM:614876 xref: NCI:C155762 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080484 name: peroxisome biogenesis disorder 10A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. (DO)" [PMID:17055079 "DO"] synonym: "PBD10A" EXACT [] synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT [] synonym: "PEX3-RELATED CONDITION" BROAD [] xref: MIM:614882 xref: MONDO:0013948 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080485 name: peroxisome biogenesis disorder 11A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)" [PMID:17055079 "DO"] synonym: "PBD11A" EXACT [] synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT [] synonym: "PEX13-RELATED DISORDER" BROAD [] xref: MIM:614883 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080486 name: peroxisome biogenesis disorder 12A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. (DO)" [PMID:17055079 "DO"] synonym: "PBD12A" EXACT [] synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT [] xref: MIM:614886 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080487 name: peroxisome biogenesis disorder 13A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. (DO)" [PMID:17055079 "DO"] synonym: "PBD13A" EXACT [] synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT [] synonym: "PEX14-RELATED CONDITION" EXACT [] xref: MIM:614887 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080488 name: mucolipidosis def: "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. (DO)" [https://en.wikipedia.org/wiki/Mucolipidosis "DO"] synonym: "mucolipidoses" EXACT [] xref: MESH:D009081 xref: MIM:PS256550 xref: MONDO:0019248 xref: NCI:C61267 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0080489 name: GM1 gangliosidosis type 3 def: "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. (DO)" [PMID:404231 "DO"] synonym: "adult GM1 gangliosidosis" EXACT [] synonym: "adult-onset GM1 gangliosidosis" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Adult Type" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Chronic Type" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Type 3" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Type III" EXACT [] synonym: "GM1G3" EXACT [] synonym: "GM1-gangliosidoses type III" EXACT [] synonym: "GM1-gangliosidosis type III" EXACT [] synonym: "Type 3 (Adult) GM1 Gangliosidosis" EXACT [] xref: GARD:2431 xref: MIM:230650 xref: MONDO:0009262 xref: ORDO:79257 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080490 name: mucolipidosis type IV def: "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. (DO)" [https://en.wikipedia.org/wiki/Mucolipidosis_type_IV "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv "DO"] synonym: "ML4" EXACT [] synonym: "ML IV" EXACT [] synonym: "Mucolipidosis IV" EXACT [] synonym: "mucolipidosis type 4" EXACT [] synonym: "type IV mucolipidoses" EXACT [] xref: GARD:94 xref: MIM:252650 xref: NCI:C84896 xref: ORDO:578 is_a: DOID:0080488 ! mucolipidosis [Term] id: DOID:0080491 name: cerebral cavernous malformation 1 def: "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)" [MIM:116860 "DO"] synonym: "CCM1" EXACT [] synonym: "cerebral cavernous malformations 1" EXACT [] synonym: "KRIT1-RELATED CONDITION" EXACT [] synonym: "KRIT1-RELATED DISORDERS" EXACT [] xref: MIM:116860 is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation [Term] id: DOID:0080492 name: leukocyte adhesion deficiency 2 def: "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO"] comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases. synonym: "LAD2" EXACT [] is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0080493 name: ovarian dysgenesis 1 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. (DO)" [MIM:233300 "DO"] synonym: "FSHR-related condition" BROAD [] synonym: "hypergonadotropic ovarian failure" EXACT [] synonym: "ODG1" EXACT [] synonym: "ovarian dysgenesis, hypergonadotropic, autosomal recessive" EXACT [] synonym: "ovarian dysgenesis, hypergonadotropic, with normal karyotype" EXACT [] synonym: "ovarian dysgenesis I" EXACT [] xref: MIM:233300 xref: MONDO:0024463 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080494 name: ovarian dysgenesis 2 alt_id: MIM:300510 def: "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. (DO)" [MIM:300510 "DO"] synonym: "BMP15-RELATED DISORDER" EXACT [] synonym: "hypergonadotropic ovarian dysgenesis, X-linked" EXACT [] synonym: "hypergonadotropic ovarian failure due to ovarian dysgenesis" EXACT [] synonym: "ODG2" EXACT [] synonym: "POF4" NARROW [] synonym: "premature ovarian failure 4" NARROW [] xref: MESH:C564499 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080495 name: ovarian dysgenesis 3 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. (DO)" [MIM:614324 "DO"] synonym: "ODG3" EXACT [] synonym: "PSMC3IP-related condition" BROAD [] xref: MIM:614324 xref: MONDO:0013689 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080496 name: ovarian dysgenesis 4 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. (DO)" [MIM:616185 "DO"] synonym: "MCM9-related condition" BROAD [] synonym: "ODG4" EXACT [] xref: MIM:616185 xref: MONDO:0014520 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080497 name: ovarian dysgenesis 5 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)" [MIM:617690 "DO"] synonym: "ODG5" EXACT [] synonym: "SOHLH1-RELATED DISORDER" BROAD [] xref: MIM:617690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080498 name: ovarian dysgenesis 6 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. (DO)" [MIM:618078 "DO"] synonym: "ODG6" EXACT [] xref: MIM:618078 xref: MONDO:0054850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: slaulede creation_date: 2018-09-13T00:00:00Z [Term] id: DOID:0080499 name: ovarian dysgenesis 7 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)" [MIM:618117 "DO"] synonym: "MRPS22-RELATED CONDITION" BROAD [] synonym: "ODG7" EXACT [] xref: MIM:618117 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080500 name: ovarian dysgenesis 8 def: "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. (DO)" [MIM:618187 "DO"] synonym: "ESR2-RELATED CONDITION" EXACT [] synonym: "ODG8" EXACT [] xref: MIM:618187 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: slaulede creation_date: 2019-01-16T00:00:00Z [Term] id: DOID:0080501 name: GM1 gangliosidosis type 2 def: "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. (DO)" [PMID:12644936 "DO"] synonym: "generalized GM1 gangliosidosis, juvenile type" EXACT [] synonym: "generalized GM1 gangliosidosis, late-infantile type" EXACT [] synonym: "generalized GM1 gangliosidosis, type 2" EXACT [] synonym: "generalized GM1 gangliosidosis, type II" EXACT [] synonym: "GM1G2" EXACT [] synonym: "GM1-gangliosidosis, type II" EXACT [] synonym: "juvenile GM1 gangliosidosis" EXACT [] xref: MESH:C566893 xref: MIM:230600 xref: MONDO:0009261 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080502 name: GM1 gangliosidosis type 1 alt_id: MIM:230500 def: "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK164500/ "DO"] synonym: "generalized GM1 gangliosidosis, infantile form" EXACT [] synonym: "generalized GM1 gangliosidosis, type 1" EXACT [] synonym: "generalized GM1 gangliosidosis, type I" EXACT [] synonym: "generalized GM1 gangliosidosis, type I, with cardiac involvement" NARROW [] synonym: "GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT" NARROW [] synonym: "GM1G1" EXACT [] synonym: "GM1-gangliosidoses type I" EXACT [] synonym: "GM1-gangliosidosis type I" EXACT [] synonym: "Gm1 Gangliosidosis, Type I, with Cardiac Involvement" RELATED [] synonym: "Infantile Gangliosidosis GM1" EXACT [] xref: GARD:6479 xref: MESH:C566895 xref: ORDO:79255 is_a: DOID:114 ! heart disease is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080503 name: multiple congenital anomalies-hypotonia-seizures syndrome def: "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. (DO)" [PMID:29974678 "DO"] xref: GARD:12781 xref: MIM:PS614080 xref: ORDO:280633 is_a: DOID:0080015 ! physical disorder is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080504 name: Parkinson's disease 22 def: "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. (DO)" [MIM:616710 "DO", PMID:30496485 "DO"] synonym: "autosomal dominant Parkinson's disease 22" EXACT [] synonym: "CHCHD2-RELATED CONDITION" EXACT [] synonym: "PARK22" EXACT [] synonym: "Parkinson disease 22, autosomal dominant" EXACT [] xref: MIM:616710 xref: MONDO:0014742 xref: NCI:C205643 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0080505 name: Cornelia de Lange syndrome 1 def: "A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)" [PMID:20583156 "DO"] synonym: "CDLS1" EXACT [] synonym: "NIPBL-related condition" BROAD [] xref: MIM:122470 xref: MONDO:0007387 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080506 name: Cornelia de Lange syndrome 2 def: "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. (DO)" [PMID:22106055 "DO"] synonym: "CDLS2" EXACT [] synonym: "CONGENITAL MUSCULAR HYPERTROPHY-CEREBRAL SYNDROME" RELATED [] synonym: "Cornelia de Lange syndrome, X-linked" BROAD [] synonym: "SMC1A-RELATED COHESINOPATHY" BROAD [] synonym: "X-linked CDLS" BROAD [] xref: MIM:300590 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080507 name: Cornelia de Lange syndrome 3 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)" [PMID:25655089 "DO"] synonym: "CDLS3" EXACT [] synonym: "Cornelia De Lange syndrome 3 with or without midline brain defects" EXACT [] synonym: "SMC3-RELATED CONDITION" EXACT [] xref: MIM:610759 xref: MONDO:0012555 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080508 name: Cornelia de Lange syndrome 4 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. (DO)" [PMID:22633399 "DO"] synonym: "CDLS4" EXACT [] synonym: "Cornelia de Lange syndrome 4 with or without midline brain defects" EXACT [] synonym: "RAD21-RELATED CONDITION" BROAD [] xref: MIM:614701 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080509 name: Cornelia de Lange syndrome 5 def: "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. (DO)" [PMID:22889856 "DO"] synonym: "CDLS5" EXACT [] synonym: "HDAC8-RELATED CONDITION" EXACT [] xref: MIM:300882 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080510 name: epidermolysis bullosa simplex localized type def: "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO"] synonym: "Acral Form EBS" EXACT [] synonym: "Epidermolysis Bullosa of Hands and Feet" EXACT [] synonym: "epidermolysis bullosa simplex Weber-Cockayne type" EXACT [] synonym: "localized epidermolysis bullosa simplex" EXACT [] synonym: "Weber Cockayne Syndrome" EXACT [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0080511 name: epidermolysis bullosa simplex generalized type def: "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO"] synonym: "epidermolysis bullosa simplex Koebner type" EXACT [] synonym: "generalized EBS" EXACT [] synonym: "generalized epidermolysis bullosa simplex" EXACT [] synonym: "generalized epidermolysis bullosa simplex with severe palmoplantar keratosis" EXACT [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0080512 name: Meier-Gorlin syndrome 1 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. (DO)" [MIM:224690 "DO"] synonym: "MGORS1" EXACT [] synonym: "ORC1-RELATED CONDITION" EXACT [] xref: MIM:224690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080513 name: Meier-Gorlin syndrome 2 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. (DO)" [MIM:613800 "DO"] synonym: "MGORS2" EXACT [] synonym: "ORC4-RELATED CONDITION" EXACT [] xref: MIM:613800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080514 name: Meier-Gorlin syndrome 3 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. (DO)" [PMID:37059840 "DO"] synonym: "MGORS3" EXACT [] synonym: "ORC6-RELATED CONDITION" EXACT [] xref: MIM:613803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080515 name: Meier-Gorlin syndrome 4 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. (DO)" [PMID:21358631 "DO"] synonym: "CDT1-RELATED CONDITION" EXACT [] synonym: "MGORS4" EXACT [] xref: MIM:613804 xref: MONDO:0013431 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080516 name: Meier-Gorlin syndrome 5 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21. (DO)" [PMID:11477602 "DO"] synonym: "CDC6-related condition" BROAD [] synonym: "MGORS5" EXACT [] xref: MIM:613805 xref: MONDO:0013432 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080517 name: Meier-Gorlin syndrome 6 def: "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. (DO)" [PMID:26637980 "DO"] synonym: "GMNN-RELATED CONDITION" EXACT [] synonym: "MGORS6" EXACT [] xref: MIM:616835 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080518 name: Meier-Gorlin syndrome 7 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. (DO)" [PMID:27374770 "DO"] synonym: "CDC45-RELATED CONDITION" EXACT [] synonym: "MGORS7" EXACT [] xref: MIM:617063 xref: MONDO:0014894 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080519 name: PAPA syndrome def: "A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. (DO)" [https://en.wikipedia.org/wiki/PAPA_syndrome "DO", https://www.nomidalliance.org/papa.php "DO", PMID:28236224 "DO", PMID:28251506 "DO"] synonym: "familial recurrent arthritis" EXACT [] synonym: "FRA" EXACT [] synonym: "PAPAS" EXACT [] synonym: "pyogenic arthritis, pyoderma gangrenosum, and acne" EXACT [] synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" EXACT [] synonym: "pyogenic sterile arthritis, pyoderma gangrenosum, and acne" EXACT [] xref: MESH:C536253 xref: MIM:604416 xref: MONDO:0011462 xref: ORDO:69126 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:6543 ! acne is_a: DOID:813 ! septic arthritis is_a: DOID:8553 ! pyoderma gangrenosum [Term] id: DOID:0080520 name: Tn polyagglutination syndrome alt_id: DOID:9000181 def: "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. (DO)" [PMID:16251947 "DO"] synonym: "Galactosyltransferase Deficiency" EXACT [] synonym: "TNPS" EXACT [] synonym: "Tn Syndrome" EXACT [] xref: MESH:C562719 xref: MIM:300622 is_a: DOID:225 ! syndrome is_a: DOID:9005170 ! polyagglutination [Term] id: DOID:0080521 name: lung non-squamous non-small cell carcinoma def: "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. (DO)" [PMID:30362335 "DO"] synonym: "non- squamous NSCLC" EXACT [] xref: NCI:C135017 is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:0080522 name: anaplastic thyroid carcinoma def: "A thyroid gland carcinoma that is composed of undifferentiated cells. (DO)" [PMID:28707679 "DO"] synonym: "anaplastic thyroid cancer" EXACT [] synonym: "anaplastic thyroid cancers" EXACT [] synonym: "anaplastic thyroid carcinomas" EXACT [] synonym: "thyroid gland anaplastic carcinoma" EXACT [] synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [] xref: EFO:1000595 xref: MESH:D065646 xref: MONDO:0006468 xref: NCI:C3878 xref: NCI:C664 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0080523 name: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia def: "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. (DO)" [PMID:27680516 "DO", PMID:28921817 "DO"] synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" EXACT [] synonym: "ALSP" EXACT [] synonym: "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" EXACT [] synonym: "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY" BROAD [] synonym: "CSF1R-RELATED CONDITION" BROAD [] synonym: "familial dementia, Neumann type" EXACT [] synonym: "familial progressive subcortical gliosis" EXACT [] synonym: "GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL" EXACT [] synonym: "GPSC" EXACT [] synonym: "HDLS" EXACT [] synonym: "HDLS1" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with axonal spheroids" EXACT [] synonym: "HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with spheroids" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with spheroids 1" EXACT [] synonym: "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA" EXACT [] synonym: "Leukoencephalopathy, diffuse hereditary, with spheroids 1" EXACT [] synonym: "neuroaxonal leukodystrophy" EXACT [] synonym: "subcortical gliosis of Neumann" EXACT [] xref: GARD:10981 xref: MESH:C580150 xref: MIM:221820 xref: MONDO:0800027 xref: NCI:C153289 xref: ORDO:313808 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0080524 name: thyroid gland adenocarcinoma def: "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27380 "DO"] xref: NCI:C27380 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0080525 name: differentiated high-grade thyroid carcinoma def: "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit "DO"] synonym: "differentiated thyroid gland carcinoma" EXACT [] xref: EFO:1002017 xref: NCI:C7153 is_a: DOID:0080524 ! thyroid gland adenocarcinoma [Term] id: DOID:0080526 name: bronchiectasis 1 alt_id: MIM:211400 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. (DO)" [MIM:211400 "DO"] synonym: "BESC1" EXACT [] synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [] synonym: "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF" RELATED [] synonym: "HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C567618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080527 name: bronchiectasis 2 alt_id: MIM:613021 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. (DO)" [PMID:19462466 "DO"] synonym: "BESC2" EXACT [] synonym: "Bronchiectasis with or without Elevated Sweat Chloride 2" EXACT [] synonym: "IDIOPATHIC BRONCHIECTASIS" EXACT [] xref: MESH:C567813 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080528 name: bronchiectasis 3 alt_id: MIM:613071 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. (DO)" [PMID:18507830 "DO"] synonym: "BESC3" EXACT [] synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [] xref: MESH:C567772 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080530 name: granular corneal dystrophy 1 alt_id: MIM:121900 def: "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, 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 of the corneal surface. (DO)" [PMID:8136834 "DO"] synonym: "CDGG1" EXACT [] synonym: "corneal dystrophy granular type" EXACT [] synonym: "Corneal dystrophy punctate or nodular" EXACT [] synonym: "GCD1" EXACT [] synonym: "Granular Corneal Dystrophy, Type I" EXACT [] synonym: "Groenouw type I corneal dystrophy" EXACT [] xref: MESH:C537304 is_a: DOID:12318 ! granular corneal dystrophy [Term] id: DOID:0080531 name: dedifferentiated liposarcoma def: "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/ "DO", PMID:26645460 "DO"] synonym: "dedifferentiated liposarcomas" EXACT [] xref: EFO:0003085 xref: ICDO:8858/3 xref: NCI:C3704 xref: ORDO:99970 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:0080532 name: Smarca4-deficient sarcoma of thorax def: "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). (DO)" [https://ghr.nlm.nih.gov/gene/SMARCA4#conditions "DO", https://www.nature.com/articles/modpathol201761.pdf?origin=ppub "DO", PMID:26343384 "DO"] synonym: "SMARCA4-DTS" EXACT [] xref: ORDO:466962 is_a: DOID:3672 ! rhabdoid cancer is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:0080533 name: Carney-Stratakis syndrome def: "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)" [https://rarediseases.info.nih.gov/diseases/10643/index "DO", PMID:31174229 "DO"] comment: carney dyad; carney stratakis dyad; carney stratakis syndrome; carney-stratakis dyad; gist-paraganglioma dyad; paraganglioma and gastric stromal sarcoma; paraganglioma and gastric stromal sarcoma syndrome; sdhb-related paraganglioma and gastric stromal sarcoma; sdhc-related paraganglioma and gastric stromal sarcoma; sdhd-related paraganglioma and gastric stromal sarcoma synonym: "Carney dyad" EXACT [] synonym: "gist-paraganglioma dyad" EXACT [] synonym: "paraganglioma and gastric stromal sarcoma" EXACT [] synonym: "paraganglioma and gastric stromal sarcoma syndrome" EXACT [] synonym: "paraganglioma and gastrointestinal stromal tumor" EXACT [] xref: GARD:10643 xref: MESH:C564650 xref: MIM:606864 xref: MONDO:0011740 xref: ORDO:97286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050773 ! paraganglioma is_a: DOID:225 ! syndrome is_a: DOID:9253 ! gastrointestinal stromal tumor [Term] id: DOID:0080534 name: myxofibrosarcoma def: "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. (DO)" [https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740 "DO", PMID:27591498 "DO"] synonym: "fibromyxoid sarcoma" EXACT [] synonym: "LOW GRADE FIBROMYXOID SARCOMA" NARROW [] xref: EFO:1000328 xref: ICDO:8811/3 xref: NCI:C6496 xref: ORDO:79105 is_a: DOID:1115 ! sarcoma [Term] id: DOID:0080535 name: hypermanganesemia with dystonia def: "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. (DO)" [https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources "DO"] xref: MIM:PS613280 is_a: DOID:543 ! dystonia is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0080536 name: hypermanganesemia with dystonia 1 alt_id: DOID:9003227 alt_id: MESH:C548016 def: "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. (DO)" [PMID:22341972 "DO"] synonym: "dystonia-parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease" EXACT [] synonym: "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia" EXACT [] synonym: "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia" EXACT [] synonym: "HMDPC" EXACT [] synonym: "HMNDYT1" EXACT [] synonym: "Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis" EXACT [] synonym: "parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease" EXACT [] synonym: "SLC30A10-RELATED CONDITION" EXACT [] xref: MIM:613280 is_a: DOID:0080535 ! hypermanganesemia with dystonia is_a: DOID:5082 ! liver cirrhosis is_a: DOID:8432 ! polycythemia [Term] id: DOID:0080537 name: hypermanganesemia with dystonia 2 def: "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. (DO)" [PMID:27231142 "DO"] synonym: "HMNDYT2" EXACT [] synonym: "SLC39A14-RELATED CONDITION" BROAD [] xref: MIM:617013 xref: MONDO:0014864 is_a: DOID:0080535 ! hypermanganesemia with dystonia [Term] id: DOID:0080538 name: Sweeney-Cox syndrome def: "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)" [PMID:28369379 "DO"] synonym: "SWCOS" EXACT [] xref: MIM:617746 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080539 name: PEHO syndrome def: "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)" [https://en.wikipedia.org/wiki/PEHO_syndrome "DO", PMID:28335020 "DO", PMID:30385166 "DO", PMID:31048081 "DO"] synonym: "infantile cerebellooptic atrophy" EXACT [] synonym: "PEHO" EXACT [] synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" EXACT [] xref: GARD:4264 xref: MESH:C536317 xref: MIM:260565 xref: MONDO:0009841 xref: ORDO:2836 is_a: DOID:0050562 ! West syndrome is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:4724 ! brain edema is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0080540 name: galactosialidosis alt_id: MIM:256540 def: "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. (DO)" [https://ghr.nlm.nih.gov/condition/galactosialidosis "DO", PMID:28603679 "DO"] synonym: "cathepsin A deficiency" EXACT [] synonym: "COMBINED DEFICIENCY OF SIALIDASE AND BETA GALACTOSIDASE" EXACT [] synonym: "deficiency of cathepsin A" EXACT [] synonym: "Galactosialidosis, Adult" NARROW [] synonym: "Galactosialidosis, early Infantile" NARROW [] synonym: "Galactosialidosis, Late Infantile" NARROW [] synonym: "Goldberg syndrome" EXACT [] synonym: "GSL" EXACT [] synonym: "Lysosomal Protective Protein Deficiency" EXACT [] synonym: "Lysosomal protective protein, deficiency of" EXACT [] synonym: "NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION" EXACT [] synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [] synonym: "NGBE" EXACT [] synonym: "PPCA deficiency" EXACT [] synonym: "protective protein-cathepsin A deficiency" EXACT [] xref: GARD:3953 xref: MESH:C536411 xref: NCI:C129928 xref: ORDO:351 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0080541 name: hyperprolinemia def: "An amno acid metabolic disorder that is characterized by the excess of proline in the blood. (DO)" [https://en.wikipedia.org/wiki/Hyperprolinemia "DO", https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"] synonym: "hyperprolinemias" EXACT [] synonym: "prolinemia" EXACT [] synonym: "prolinuria" EXACT [] synonym: "pyrroline carboxylate dehydrogenase deficiency" EXACT [] xref: GARD:2847 xref: MONDO:0023419 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080542 name: hyperprolinemia type 1 def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. (DO)" [https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"] synonym: "HPI" EXACT [] synonym: "Hyperprolinemia Type I" EXACT [] synonym: "HYRPRO1" EXACT [] synonym: "proline dehydrogenase deficiency" EXACT [] synonym: "proline hydrogenase deficiency" EXACT [] synonym: "proline oxidase deficiency" EXACT [] synonym: "pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] xref: MIM:239500 xref: MONDO:0009400 xref: ORDO:419 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080541 ! hyperprolinemia [Term] id: DOID:0080543 name: hyperprolinemia type 2 def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"] synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] synonym: "deficiency of pyrroline-5-carboxylate reductase" EXACT [] synonym: "HPII" EXACT [] synonym: "hyperprolinemia type II" EXACT [] synonym: "HYRPRO2" EXACT [] synonym: "pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] xref: MESH:C538385 xref: MIM:239510 xref: MONDO:0009401 xref: ORDO:79101 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080541 ! hyperprolinemia [Term] id: DOID:0080544 name: hyper IgM syndrome def: "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. (DO)" [https://rarediseases.org/rare-diseases/hyper-igm-syndrome/ "DO", https://www.niaid.nih.gov/diseases-conditions/types-pidds "DO"] synonym: "HIGM" EXACT [] synonym: "hyper-IgM immunodeficiency syndrome" EXACT [] synonym: "hyper-IgM immunodeficiency syndromes" EXACT [] synonym: "hyper-IgM syndromes" EXACT [] synonym: "immunodeficiency with hyper-IgM" EXACT [] synonym: "immunodeficiency with hyper-IgM syndrome" EXACT [] xref: ICD10CM:D80.5 xref: MESH:D053306 xref: MIM:PS308230 xref: NCI:C84783 is_a: DOID:2959 ! hyperimmunoglobulin syndrome [Term] id: DOID:0080545 name: hyper IgE syndrome def: "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms "DO"] synonym: "autosomal recessive HIES" NARROW [] synonym: "HIE Syndrome" EXACT [] synonym: "HIE syndromes" EXACT [] synonym: "Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive" NARROW [] synonym: "Hyper IgE Syndrome, Autosomal Recessive" NARROW [] synonym: "Hyper-IgE Syndromes" EXACT [] synonym: "Hyperimmunoglobulinemia E Syndrome" EXACT [] synonym: "Hyperimmunoglobulinemia E Syndromes" EXACT [] synonym: "hyperimmunoglobulin E recurrent infection syndrome" EXACT [] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" NARROW [] synonym: "hyper immunoglobulin E syndrome" EXACT [] synonym: "hyperimmunoglobulin E syndrome" EXACT [] synonym: "hyper immunoglobulin E syndrome, autosomal recessive" NARROW [] xref: GARD:10956 xref: MESH:D007589 xref: MIM:PS147060 xref: NCI:C3144 is_a: DOID:2959 ! hyperimmunoglobulin syndrome is_a: DOID:3262 ! phagocyte bactericidal dysfunction [Term] id: DOID:0080547 name: metabolic dysfunction-associated steatohepatitis def: "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. (DO)" [https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ "DO", https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash "DO", PMID:37364816 "DO"] synonym: "MASH" EXACT [] synonym: "NASH" EXACT [] synonym: "non-alcoholic steatohepatitis" EXACT [] synonym: "nonalcoholic steatohepatitis" EXACT [] xref: EFO:1001249 xref: MONDO:0007027 is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease [Term] id: DOID:0080548 name: Noonan syndrome with multiple lentigines 1 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes "DO"] synonym: "LEOPARD syndrome 1" EXACT [] synonym: "LPRD1" EXACT [] xref: MIM:151100 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080549 name: Noonan syndrome with multiple lentigines 2 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO", PMID:17603483 "DO"] synonym: "LEOPARD syndrome 2" EXACT [] synonym: "LPRD2" EXACT [] xref: MESH:C537117 xref: MIM:611554 xref: MONDO:0012691 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080550 name: Noonan syndrome with multiple lentigines 3 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO"] synonym: "LEOPARD syndrome 3" EXACT [] synonym: "LPRD3" EXACT [] xref: MIM:613707 xref: MONDO:0013380 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080551 name: Naxos disease alt_id: MIM:601214 def: "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)" [https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes "DO", https://rarediseases.info.nih.gov/diseases/9795/disease "DO", PMID:29747658 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy with skin, hair, and nail abnormalities" EXACT [] synonym: "JUP-RELATED DISORDER" BROAD [] synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" EXACT [] synonym: "Mal de Naxos" EXACT [] synonym: "NXD" EXACT [] synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" EXACT [] synonym: "woolly hair, palmoplantar keratoderma, and cardiac abnormalities" EXACT [] xref: GARD:9795 xref: MESH:C538346 xref: NCI:C206112 xref: ORDO:34217 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:421 ! hair disease [Term] id: DOID:0080552 name: congenital disorder of glycosylation Ia def: "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)" [https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome type Ia" EXACT [] synonym: "CDG1A" EXACT [] synonym: "CDG Ia" EXACT [] synonym: "CDGIa" EXACT [] synonym: "congenital disorder of glycosylation 1a" EXACT [] synonym: "congenital disorder of glycosylation type 1A" EXACT [] synonym: "congenital disorder of glycosylation type Ia" EXACT [] synonym: "Jaeken syndrome" EXACT [] synonym: "phosphomannomutase 2 deficiency" EXACT [] synonym: "PMM2-CDG" EXACT [] synonym: "PMM2-congenital disorder of glycosylation" EXACT [] synonym: "PMM2-RELATED CONDITION" EXACT [] xref: GARD:9826 xref: MESH:C535739 xref: MIM:212065 xref: MONDO:0008907 xref: NCI:C126868 xref: ORDO:79318 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080553 name: congenital disorder of glycosylation Iaa def: "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)" [PMID:25066056 "DO"] synonym: "CDG1AA" EXACT [] synonym: "congenital disorder of glycosylation 1aa" EXACT [] synonym: "congenital disorder of glycosylation type 1AA" EXACT [] synonym: "congenital disorder of glycosylation type Iaa" EXACT [] xref: MIM:617082 xref: MONDO:0014904 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-09-18T16:45:06Z [Term] id: DOID:0080554 name: congenital disorder of glycosylation Ib alt_id: MIM:602579 alt_id: RDO:0001029 def: "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. (DO)" [MIM:602579 "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" EXACT [] synonym: "CDG1B" EXACT [] synonym: "CDG, GASTROINTESTINAL TYPE" EXACT [] synonym: "CDG Ib" EXACT [] synonym: "CDGIb" EXACT [] synonym: "congenital disorder of glycosylation 1b" EXACT [] synonym: "Congenital Disorder of Glycosylation Type 1B" EXACT [] synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib" EXACT [] synonym: "Mannosephosphate isomerase deficiency" EXACT [] synonym: "MPI DEFICIENCY" EXACT [] synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" EXACT [] synonym: "Saguenay-Lac Saint-Jean syndrome" EXACT [] synonym: "SLSJ syndrome" EXACT [] xref: GARD:9830 xref: MESH:C535740 xref: NCI:C206519 xref: ORDO:79319 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080555 name: congenital disorder of glycosylation Ic def: "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (DO)" [https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation "DO", PMID:16007612 "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome type I, with deficient glycosylation of dolichol-linked oligosaccharide" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome type V" EXACT [] synonym: "CDG1C" EXACT [] synonym: "CDG Ic" EXACT [] synonym: "CDGIc" EXACT [] synonym: "CDGS5" EXACT [] synonym: "congenital disorder of glycosylation 1c" EXACT [] synonym: "congenital disorder of glycosylation type 1C" EXACT [] synonym: "congenital disorder of glycosylation, type Ic" EXACT [] xref: GARD:9829 xref: MESH:C535741 xref: MIM:603147 xref: MONDO:0011291 xref: NCI:C126869 xref: ORDO:79320 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080556 name: congenital disorder of glycosylation Id alt_id: MIM:601110 def: "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)" [PMID:28108845 "DO"] synonym: "ALG3-RELATED CONDITION" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome, type 4" EXACT [] synonym: "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV" EXACT [] synonym: "CDG1D" EXACT [] synonym: "CDG Id" EXACT [] synonym: "CDGId" EXACT [] synonym: "CDGS4" EXACT [] synonym: "CDGS, TYPE IV" EXACT [] synonym: "congenital disorder of glycosylation 1d" EXACT [] synonym: "congenital disorder of glycosylation type 1D" EXACT [] synonym: "congenital disorder of glycosylation type ID" EXACT [] xref: GARD:9827 xref: MESH:C535742 xref: NCI:C126870 xref: ORDO:79321 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080557 name: congenital disorder of glycosylation Ie def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. (DO)" [PMID:23856421 "DO"] synonym: "CDG1E" EXACT [] synonym: "CDG Ie" EXACT [] synonym: "CDGIe" EXACT [] synonym: "congenital disorder of glycosylation 1e" EXACT [] synonym: "congenital disorder of glycosylation type 1E" EXACT [] synonym: "congenital disorder of glycosylation, type IE" EXACT [] synonym: "DPM1-RELATED CONDITION" EXACT [] xref: GARD:9831 xref: MESH:C535743 xref: MIM:608799 xref: MONDO:0012123 xref: NCI:C126871 xref: ORDO:79322 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080558 name: congenital disorder of glycosylation If def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. (DO)" [PMID:11733556 "DO"] synonym: "CDG1F" EXACT [] synonym: "CDG If" EXACT [] synonym: "CDGIf" EXACT [] synonym: "congenital disorder of glycosylation 1f" EXACT [] synonym: "congenital disorder of glycosylation type 1F" EXACT [] synonym: "congenital disorder of glycosylation, type IF" EXACT [] synonym: "MPDU1-RELATED CONDITION" EXACT [] xref: GARD:9832 xref: MESH:C535744 xref: MIM:609180 xref: MONDO:0012211 xref: NCI:C126872 xref: ORDO:79323 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080559 name: congenital disorder of glycosylation Ig alt_id: MIM:607143 def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)" [https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation "DO", PMID:17506107 "DO"] synonym: "ALG12-congenital disorder of glycosylation" EXACT [] synonym: "ALG12-RELATED DISORDER" EXACT [] synonym: "CDG1G" EXACT [] synonym: "CDG Ig" EXACT [] synonym: "CDGIg" EXACT [] synonym: "congenital disorder of glycosylation 1g" EXACT [] synonym: "congenital disorder of glycosylation type 1G" EXACT [] synonym: "congenital disorder of glycosylation, type IG" EXACT [] xref: GARD:9833 xref: MESH:C535745 xref: NCI:C126873 xref: ORDO:79324 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080560 name: congenital disorder of glycosylation Ih alt_id: MIM:608104 def: "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. (DO)" [PMID:28108845 "DO"] synonym: "ALG8-RELATED DISORDER" BROAD [] synonym: "CDG1H" EXACT [] synonym: "CDG IH" EXACT [] synonym: "CDGIH" EXACT [] synonym: "congenital disorder of glycosylation 1h" EXACT [] synonym: "congenital disorder of glycosylation type 1H" EXACT [] synonym: "congenital disorder of glycosylation type IH" EXACT [] xref: GARD:9834 xref: MESH:C535746 xref: NCI:C206097 xref: ORDO:79325 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080561 name: congenital disorder of glycosylation Ii def: "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)" [PMID:12684507 "DO"] synonym: "CDG1I" EXACT [] synonym: "CDG Ii" EXACT [] synonym: "CDGIi" EXACT [] synonym: "congenital disorder of glycosylation 1i" EXACT [] synonym: "congenital disorder of glycosylation type 1I" EXACT [] synonym: "congenital disorder of glycosylation type Ii" EXACT [] synonym: "congenital disorders of glycosylation type Ii" EXACT [] xref: GARD:9836 xref: MIM:607906 xref: MONDO:0011933 xref: ORDO:79326 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080562 name: congenital disorder of glycosylation Ij alt_id: MIM:608093 def: "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. (DO)" [PMID:12872255 "DO"] synonym: "CDG1J" EXACT [] synonym: "CDG Ij" EXACT [] synonym: "CDGIj" EXACT [] synonym: "congenital disorder of glycosylation 1j" EXACT [] synonym: "congenital disorder of glycosylation type 1J" EXACT [] synonym: "congenital disorder of glycosylation, type IJ" EXACT [] xref: GARD:9837 xref: MESH:C535748 xref: NCI:C126874 xref: ORDO:86309 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080563 name: congenital disorder of glycosylation Ik alt_id: MIM:608540 def: "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (DO)" [https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation "DO", PMID:28108845 "DO"] synonym: "CDG1K" EXACT [] synonym: "CDG Ik" EXACT [] synonym: "CDGIk" EXACT [] synonym: "congenital disorder of glycosylation 1k" EXACT [] synonym: "congenital disorder of glycosylation, type 1K" EXACT [] synonym: "congenital disorder of glycosylation, type IK" EXACT [] xref: GARD:9838 xref: MESH:C535749 xref: ORDO:79327 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080564 name: congenital disorder of glycosylation Il alt_id: MIM:608776 def: "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. (DO)" [PMID:26453364 "DO"] synonym: "ALG9 CONGENITAL DISORDER OF GLYCOSYLATION" EXACT [] synonym: "CDG1L" EXACT [] synonym: "CDG Il" EXACT [] synonym: "CDGIl" EXACT [] synonym: "congenital disorder of glycosylation 1l" EXACT [] synonym: "congenital disorder of glycosylation, type 1L" EXACT [] synonym: "congenital disorder of glycosylation, type IL" EXACT [] xref: GARD:9839 xref: MESH:C535750 xref: ORDO:79328 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080565 name: congenital disorder of glycosylation Im alt_id: MIM:610768 def: "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation "DO", PMID:17273964 "DO"] synonym: "CDG1m" EXACT [] synonym: "CDG Im" EXACT [] synonym: "CDGIm" EXACT [] synonym: "congenital disorder of glycosylation 1m" EXACT [] synonym: "Congenital Disorder of Glycosylation Type 1M" EXACT [] synonym: "congenital disorder of glycosylation, type Im" EXACT [] synonym: "DK1 DEFICIENCY" EXACT [] synonym: "dolichol kinase deficiency" EXACT [] synonym: "DOLK-congenital disorder of glycosylation" EXACT [] xref: GARD:12393 xref: MESH:C563666 xref: ORDO:91131 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080566 name: congenital disorder of glycosylation In alt_id: MIM:612015 def: "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)" [PMID:23111317 "DO"] synonym: "CDG1N" EXACT [] synonym: "CDG In" EXACT [] synonym: "CDGIn" EXACT [] synonym: "congenital disorder of glycosylation 1n" EXACT [] synonym: "congenital disorder of glycosylation, type 1N" EXACT [] synonym: "congenital disorder of glycosylation, type In" EXACT [] xref: GARD:12394 xref: MESH:C567437 xref: ORDO:244310 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080567 name: congenital disorder of glycosylation Ip def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. (DO)" [PMID:22213132 "DO"] synonym: "ALG11-congenital disorder of glycosylation" EXACT [] synonym: "CDG1P" EXACT [] synonym: "congenital disorder of glycosylation 1p" EXACT [] synonym: "congenital disorder of glycosylation, type 1P" EXACT [] synonym: "congenital disorder of glycosylation, type Ip" EXACT [] xref: GARD:12396 xref: MIM:613661 xref: MONDO:0013349 xref: ORDO:280071 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080568 name: congenital disorder of glycosylation Iq alt_id: DOID:9007084 def: "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. (DO)" [PMID:20637498 "DO"] synonym: "CDG1Q" EXACT [] synonym: "CDG Iq" EXACT [] synonym: "CDGIq" EXACT [] synonym: "COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES" EXACT [] synonym: "congenital disorder of glycosylation 1q" EXACT [] synonym: "Congenital Disorder of Glycosylation Type 1Q" EXACT [] synonym: "congenital disorder of glycosylation, type Iq" EXACT [] synonym: "Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities" EXACT [] xref: GARD:12397 xref: MESH:C567328 xref: MIM:612379 xref: MONDO:0012885 xref: ORDO:324737 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080569 name: congenital disorder of glycosylation Ir def: "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)" [PMID:22305527 "DO"] synonym: "CDG1R" EXACT [] synonym: "congenital disorder of glycosylation 1R" EXACT [] synonym: "congenital disorder of glycosylation type 1R" EXACT [] synonym: "congenital disorder of glycosylation, type Ir" EXACT [] synonym: "DDOST-congenital disorder of glycosylation" EXACT [] xref: GARD:12398 xref: MIM:614507 xref: MONDO:0013789 xref: ORDO:300536 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080570 name: congenital disorder of glycosylation It def: "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. (DO)" [PMID:24499211 "DO"] synonym: "CDG1T" EXACT [] synonym: "CDG It" EXACT [] synonym: "CDGIt" EXACT [] synonym: "congenital disorder of glycosylation 1t" EXACT [] synonym: "congenital disorder of glycosylation type 1T" EXACT [] synonym: "congenital disorder of glycosylation, type IT" EXACT [] synonym: "glycogen storage disease XIV" EXACT [] synonym: "GSD14" EXACT [] synonym: "GSD XIV" EXACT [] synonym: "PGM1-congenital disorder of glycosylation" EXACT [] synonym: "PGM1 deficiency" EXACT [] synonym: "PGM1-RELATED CONDITION" EXACT [] synonym: "phosphoglucomutase 1 deficiency" EXACT [] xref: MESH:C567859 xref: MIM:614921 xref: MONDO:0013968 xref: ORDO:319646 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0080571 name: congenital disorder of glycosylation Iu def: "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)" [PMID:23109149 "DO"] synonym: "CDG1U" EXACT [] synonym: "CDG IU" EXACT [] synonym: "CDGIU" EXACT [] synonym: "congenital disorder of glycosylation 1u" EXACT [] synonym: "congenital disorder of glycosylation type 1U" EXACT [] synonym: "congenital disorder of glycosylation, type Iu" EXACT [] xref: GARD:12416 xref: MIM:615042 xref: ORDO:329178 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080572 name: congenital disorder of glycosylation Iw alt_id: MIM:619714 def: "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. (DO)" [PMID:23842455 "DO"] synonym: "CDG1W" EXACT [] synonym: "CDG1WAD" NARROW [] synonym: "CDG1WAR" NARROW [] synonym: "CDG Iw" EXACT [] synonym: "CDGIw" EXACT [] synonym: "CDG syndrome type Iw" EXACT [] synonym: "congenital disorder of glycosylation 1w" EXACT [] synonym: "congenital disorder of glycosylation type 1W" EXACT [] synonym: "congenital disorder of glycosylation, type Iw" EXACT [] synonym: "congenital disorder of glycosylation, type Iw, autosomal dominant" NARROW [] synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" NARROW [] synonym: "STT3A-RELATED CONDITION" EXACT [] xref: MIM:615596 xref: ORDO:370921 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-12-01T00:00:00Z [Term] id: DOID:0080573 name: congenital disorder of glycosylation Ix alt_id: MIM:615597 def: "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. (DO)" [PMID:23842455 "DO"] synonym: "CDG1X" EXACT [] synonym: "CDG Ix" EXACT [] synonym: "CDGIx" EXACT [] synonym: "congenital disorder of glycosylation 1x" EXACT [] synonym: "congenital disorder of glycosylation type 1X" EXACT [] synonym: "congenital disorder of glycosylation, type Ix" EXACT [] xref: MESH:C535751 xref: ORDO:370924 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0080574 name: congenital disorder of glycosylation Iy def: "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)" [PMID:26264460 "DO"] synonym: "CDG1Y" EXACT [] synonym: "CDG IY" EXACT [] synonym: "CDGIy" EXACT [] synonym: "congenital disorder of glycosylation 1y" EXACT [] synonym: "congenital disorder of glycosylation type 1Y" EXACT [] synonym: "congenital disorder of glycosylation, type Iy" EXACT [] synonym: "SSR4-congenital disorder of glycosylation" EXACT [] synonym: "SSR4-RELATED CONDITION" EXACT [] xref: GARD:12405 xref: MIM:300934 xref: MONDO:0010490 xref: ORDO:370927 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080575 name: Larsen-like syndrome B3GAT3 type def: "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC4654953/ "DO", PMID:25893793 "DO"] synonym: "autosomal recessive Larsen syndrome" EXACT [] synonym: "JDSCD" EXACT [] synonym: "Larsen syndrome, recessive" EXACT [] synonym: "Larsen syndrome, recessive type" EXACT [] synonym: "multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" EXACT [] synonym: "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS" NARROW [] synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" EXACT [] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [] xref: MESH:C537874 xref: MIM:245600 xref: MONDO:0009511 xref: ORDO:284139 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:9000896 ! Larsen-Like Syndromes is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2019-03-19T15:02:22Z [Term] id: DOID:0080576 name: spondyloepimetaphyseal dysplasia, Genevieve-type def: "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. (DO)" [PMID:27213289 "DO"] synonym: "NANS deficiency" EXACT [] synonym: "NANS-related condition" BROAD [] synonym: "SEMDG" EXACT [] synonym: "SEMD, Genevieve type" EXACT [] xref: GARD:10057 xref: MESH:C535785 xref: MIM:610442 xref: MONDO:0012495 xref: ORDO:168454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9004507 ! Hirsutism is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0080577 name: polygenic disease def: "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P "DO"] is_a: DOID:630 ! genetic disease [Term] id: DOID:0080578 name: digenic disease def: "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/ "DO", PMID:28977688 "DO"] is_a: DOID:0080577 ! polygenic disease [Term] id: DOID:0080579 name: 3-methylcrotonyl-CoA carboxylase 1 deficiency def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "DO"] synonym: "3 alpha methylcrotonylglycinuria 1" EXACT [] synonym: "3-Methylcrotonylglycinuria I" EXACT [] synonym: "MCC1D" EXACT [] synonym: "MCC1 deficiency" EXACT [] synonym: "MCCD Type 1" EXACT [] synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" EXACT [] synonym: "methylcrotonylglycinuria type I" EXACT [] xref: MESH:C535308 xref: MIM:210200 xref: MONDO:0008861 is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency [Term] id: DOID:0080580 name: 3-methylcrotonyl-CoA carboxylase 2 deficiency def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "DO"] synonym: "3 alpha methylcrotonyl-coa carboxylase 2 deficiency" EXACT [] synonym: "3 alpha methylcrotonylglycinuria 2" EXACT [] synonym: "3-methylcrotonylglycinuria II" EXACT [] synonym: "MCC2D" EXACT [] synonym: "MCC2 deficiency" EXACT [] synonym: "MCCC2-RELATED DISORDER" EXACT [] synonym: "methylcrotonoyl-CoA carboxylase 2 deficiency" EXACT [] synonym: "methylcrotonylglycinuria type 2" EXACT [] synonym: "methylcrotonylglycinuria, type II" EXACT [] xref: MESH:C535309 xref: MIM:210210 xref: MONDO:0008862 is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency [Term] id: DOID:0080581 name: hyperekplexia 4 def: "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. (DO)" [PMID:29390050 "DO"] synonym: "ATAD1-RELATED CONDITION" EXACT [] synonym: "HKPX4" EXACT [] xref: MIM:618011 xref: MONDO:0044330 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0080582 name: hypotrichosis 14 def: "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)" [PMID:30401459 "DO"] synonym: "HYPT14" EXACT [] xref: MIM:618275 xref: MONDO:0032649 is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0080583 name: Wolfram syndrome, mitochondrial form alt_id: MIM:598500 def: "A Wolfram syndrome that has_material_basis_in mutation in mtDNA. (DO)" [PMID:8383698 "DO"] synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" EXACT [] synonym: "DIDMOAD, mitochondrial form" EXACT [] synonym: "DIDMOAD syndrome, mitochondrial form" EXACT [] xref: MESH:C564012 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10632 ! Wolfram syndrome is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0080584 name: autosomal dominant Wolfram syndrome alt_id: MIM:614296 def: "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)" [PMID:18544103 "DO"] synonym: "HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION" EXACT [] synonym: "WFSL" EXACT [] synonym: "WOLFRAM-LIKE DISORDER" EXACT [] synonym: "Wolfram-like syndrome, autosomal dominant" EXACT [] xref: EFO:0009063 xref: MESH:C565631 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10632 ! Wolfram syndrome [Term] id: DOID:0080585 name: Van Maldergem syndrome 1 def: "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. (DO)" [PMID:24056717 "DO"] synonym: "DCHS1-related condition" BROAD [] synonym: "DCHS1-related disorder" BROAD [] synonym: "VMLDS1" EXACT [] xref: MIM:601390 xref: MONDO:0011070 xref: NCI:C188993 is_a: DOID:0060238 ! Van Maldergem syndrome [Term] id: DOID:0080586 name: Van Maldergem syndrome 2 def: "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. (DO)" [PMID:24056717 "DO"] synonym: "FAT4-RELATED CONDITION" BROAD [] synonym: "VMLDS2" EXACT [] xref: MIM:615546 xref: NCI:C188994 is_a: DOID:0060238 ! Van Maldergem syndrome created_by: slaulede creation_date: 2018-04-18T11:21:41Z [Term] id: DOID:0080587 name: congenital myasthenic syndrome 22 def: "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)" [PMID:28726805 "DO"] synonym: "CMS22" EXACT [] synonym: "PREPL DEFICIENCY" EXACT [] xref: MIM:616224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0080588 name: agammaglobulinemia 5 def: "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. (DO)" [PMID:14660746 "DO"] synonym: "AGM5" EXACT [] synonym: "autosomal dominant agammaglobulinemia 5" EXACT [] synonym: "autosomal dominant agammaglobulinemia due to LRRC8A defect" EXACT [] synonym: "LRRC8A-related condition" BROAD [] xref: MIM:613506 xref: MONDO:0013290 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0080589 name: Klippel-Feil syndrome 1 def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)" [PMID:18425797 "DO"] synonym: "KFS1" EXACT [] synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [] synonym: "Klippel-Feil syndrome 1, dominant type" EXACT [] xref: MIM:118100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080590 name: Klippel-Feil syndrome 2 def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. (DO)" [PMID:23290072 "DO"] synonym: "KFS2" EXACT [] synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [] synonym: "MEOX1-RELATED CONDITION" EXACT [] xref: MIM:214300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080591 name: Klippel-Feil syndrome 3 def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. (DO)" [PMID:19864492 "DO"] synonym: "KFS3" EXACT [] synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [] xref: MIM:613702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080592 name: Klippel-Feil syndrome 4 def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. (DO)" [PMID:25748484 "DO"] synonym: "KFS4" EXACT [] synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" EXACT [] synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" EXACT [] synonym: "MYO18B-RELATED CONDITION" EXACT [] xref: MIM:616549 xref: ORDO:447974 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10426 ! Klippel-Feil syndrome is_a: DOID:3191 ! nemaline myopathy is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080593 name: orofacial cleft 6 def: "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. (DO)" [PMID:17702008 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 6" RELATED [] synonym: "OFC6" EXACT [] synonym: "orofacial cleft 6, susceptibility to" RELATED [] xref: MIM:608864 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080594 name: hyper IgE recurrent infection syndrome 2 def: "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)" [https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms "DO", PMID:19776401 "DO"] synonym: "autosomal recessive hyper-IgE recurrent infection syndrome 2" EXACT [] synonym: "autosomal recessive hyper-IgE syndrome 2 with recurrent infections" EXACT [] synonym: "DOCK8-RELATED CONDITION" EXACT [] synonym: "HIES2" EXACT [] xref: GARD:2816 xref: MIM:243700 xref: ORDO:217390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080595 name: autosomal recessive hyper-IgE syndrome 3 with recurrent infections def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. (DO)" [PMID:29907690 "DO"] synonym: "HIES3" EXACT [] synonym: "hyper IgE recurrent infection syndrome 3" EXACT [] synonym: "hyper-IgE recurrent infection syndrome 3, autosomal recessive" EXACT [] synonym: "ZNF341-RELATED CONDITION" EXACT [] xref: MIM:618282 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080596 name: hyper IgE recurrent infection syndrome 4 alt_id: MIM:618523 alt_id: MIM:619752 def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. (DO)" [PMID:28747427 "DO"] synonym: "HIES4" EXACT [] synonym: "HIES4A" NARROW [] synonym: "HIES4B" NARROW [] synonym: "hyper-IgE recurrent infection syndrome 4A, autosomal dominant" NARROW [] synonym: "hyper-IgE recurrent infection syndrome 4, autosomal recessive" NARROW [] synonym: "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" NARROW [] synonym: "hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections" NARROW [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080597 name: Kleefstra syndrome def: "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. (DO)" [http://ghr.nlm.nih.gov/condition/kleefstra-syndrome "DO"] xref: MIM:PS610253 xref: NCI:C129976 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080598 name: Kleefstra syndrome 2 def: "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. (DO)" [PMID:29069077 "DO"] synonym: "KLEEFSTRA SYNDROME DUE TO A POINT MUTATION" NARROW [] synonym: "KLEFS2" EXACT [] synonym: "KMT2C-RELATED CONDITION" EXACT [] synonym: "KMT2C-RELATED NDD" EXACT [] xref: MIM:617768 xref: ORDO:261652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080597 ! Kleefstra syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0080599 name: Coronavirus infectious disease def: "A viral infectious disease that has_material_basis_in Coronavirus. (DO)" [https://www.cdc.gov/coronavirus/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7782/ "DO", https://www.who.int/health-topics/coronavirus "DO"] synonym: "Coronavirus infection" EXACT [] synonym: "Coronavirus Infections" EXACT [] xref: EFO:0007224 xref: MESH:D018352 is_a: DOID:9001645 ! Coronaviridae Infections [Term] id: DOID:0080600 name: COVID-19 def: "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum. (DO)" [https://www.cdc.gov/covid/about/ "DO", https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049 "DO", https://www.who.int/emergencies/diseases/novel-coronavirus-2019 "DO", PMID:32007143 "DO", PMID:32007145 "DO"] synonym: "2019-nCoV infection" EXACT [] synonym: "2019 Novel Coronavirus (2019-nCoV)" EXACT [] synonym: "COVID19" EXACT [] synonym: "COVID-19–ASSOCIATED MULTISYSTEM INFLAMMATORY SYNDROME IN ADULTS" RELATED [] synonym: "OAS1 POLYMORPHISM" RELATED [] synonym: "SARS-CoV-2 infection" EXACT [] synonym: "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19)" RELATED [] synonym: "Wuhan coronavirus infection" RELATED [] synonym: "Wuhan seafood market pneumonia virus infection" RELATED [] xref: ICD10CM:U07.1 xref: MESH:D000086382 xref: MONDO:0100096 xref: NCI:C171133 is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080601 name: germ cell benign neoplasm def: "A benign neoplasm that derives_from germ cells. (DO)" [https://en.wikipedia.org/wiki/Germ_cell_tumor "DO"] is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9005959 ! Gonadal Tissue Neoplasms [Term] id: DOID:0080602 name: benign teratoma def: "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit "DO"] synonym: "benign teratomas" EXACT [] xref: ICDO:9080/1 xref: NCI:C67107 is_a: DOID:0080601 ! germ cell benign neoplasm [Term] id: DOID:0080603 name: ankylosing spondylitis 1 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. (DO)" [PMID:6332689 "DO"] synonym: "SPDA1" EXACT [] synonym: "spondyloarthropathy, susceptibility to, 1" RELATED [] xref: MIM:106300 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080604 name: ankylosing spondylitis 2 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. (DO)" [PMID:15234954 "DO"] synonym: "SPDA2" EXACT [] synonym: "Spondyloarthropathy, Susceptibility to, 2" RELATED [] xref: MIM:183840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7147 ! ankylosing spondylitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0080605 name: ankylosing spondylitis 3 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. (DO)" [PMID:19416804 "DO"] synonym: "SPDA3" EXACT [] synonym: "Spondyloarthropathy, Susceptibility to, 3" RELATED [] xref: MIM:613238 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080606 name: anterior segment dysgenesis 1 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)" [PMID:27839872 "DO"] synonym: "ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES" EXACT [] synonym: "ASGD1" EXACT [] synonym: "PITX3-RELATED CONDITION" BROAD [] xref: MIM:107250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080607 name: anterior segment dysgenesis 2 def: "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. (DO)" [PMID:21150893 "DO"] xref: MIM:610256 xref: NCI:C222344 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0080608 name: anterior segment dysgenesis 3 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)" [PMID:27839872 "DO"] synonym: "ASGD3" EXACT [] synonym: "FOXC1-related disorder" BROAD [] synonym: "glaucoma iridogoniodysplasia, familial" EXACT [] synonym: "IGDA" EXACT [] synonym: "IRID 1" EXACT [] synonym: "IRID1" EXACT [] synonym: "iridogoniodysgenesis anomaly, autosomal dominant" EXACT [] synonym: "iridogoniodysgenesis type 1" EXACT [] synonym: "iridogoniodysgenesis type1" EXACT [] synonym: "iris hypoplasia and glaucoma" RELATED [] xref: MESH:C535535 xref: MESH:C566650 xref: MIM:601631 xref: MONDO:0024456 is_a: DOID:0050786 ! iridogoniodysgenesis syndrome is_a: DOID:0060648 ! anterior segment dysgenesis is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0080609 name: anterior segment dysgenesis 4 alt_id: MIM:137600 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)" [PMID:27839872 "DO"] synonym: "ASGD4" EXACT [] synonym: "IHGA" EXACT [] synonym: "IRID 2" EXACT [] synonym: "IRID2" EXACT [] synonym: "iridogoniodysgenesis type 2" EXACT [] synonym: "iris hypoplasia with early onset glaucoma, autosomal dominant" EXACT [] xref: MESH:C535536 is_a: DOID:0050786 ! iridogoniodysgenesis syndrome is_a: DOID:0060648 ! anterior segment dysgenesis is_a: DOID:1686 ! glaucoma is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0080610 name: anterior segment dysgenesis 5 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [PMID:27839872 "DO"] synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [] synonym: "anterior segment dysgenesis 5, multiple types" EXACT [] synonym: "anterior segment dysgenesis 5, Peters anomaly subtype" EXACT [] synonym: "ASGD5" EXACT [] xref: MIM:604229 is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080611 name: anterior segment dysgenesis 6 def: "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. (DO)" [PMID:27839872 "DO"] synonym: "anterior segment dysgenesis 6, multiple subtypes" EXACT [] synonym: "ASGD6" EXACT [] synonym: "CYP1B1-RELATED CONDITION" BROAD [] synonym: "CYP1B1-related disorder" BROAD [] synonym: "IRIDO-CORNEO-TRABECULAR DYSGENESIS" NARROW [] xref: MIM:617315 is_a: DOID:0060648 ! anterior segment dysgenesis created_by: slaulede creation_date: 2018-04-24T12:34:51Z [Term] id: DOID:0080612 name: anterior segment dysgenesis 7 def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. (DO)" [PMID:27839872 "DO"] synonym: "ASGD7" EXACT [] synonym: "COPOA" EXACT [] synonym: "sclerocornea with other ocular anomalies" EXACT [] xref: MIM:269400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis created_by: rgd creation_date: 2018-01-15T14:21:00Z [Term] id: DOID:0080613 name: anterior segment dysgenesis 8 def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. (DO)" [PMID:27839872 "DO"] synonym: "ASGD8" EXACT [] synonym: "CPAMD8-related condition" BROAD [] xref: MIM:617319 xref: MONDO:0015017 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080614 name: oculocutaneous albinism type VI def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. (DO)" [MIM:203100 "DO"] synonym: "OCA6" EXACT [] synonym: "oculocutaneous albinism-6" EXACT [] synonym: "SLC24A5-RELATED CONDITION" EXACT [] xref: MIM:113750 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0080615 name: nephroma def: "A kidney benign neoplasm that is located_in the kidney cortex. (DO)" [https://www.stjude.org/disease/nephroma.html "DO"] synonym: "benign nephroma" EXACT [] is_a: DOID:0080616 ! kidney cortex disease is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:0080616 name: kidney cortex disease def: "A kidney disease that is located_in the kidney cortex. (DO)" [https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys "DO"] is_a: DOID:557 ! kidney disease created_by: gthayman creation_date: 2019-03-29T12:24:01Z [Term] id: DOID:0080617 name: lymph node benign neoplasm def: "An immune system organ benign neoplasm that is located_in the lymph nodes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null "DO"] xref: NCI:C3636 is_a: DOID:0060092 ! immune system organ benign neoplasm is_a: DOID:9942 ! lymph node disease created_by: gthayman creation_date: 2019-05-30T12:16:44Z [Term] id: DOID:0080618 name: lymph node carcinoma def: "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://medlineplus.gov/ency/patientinstructions/000824.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/ "DO"] is_a: DOID:10619 ! lymph node cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:0080619 name: auditory system benign neoplasm def: "A sensory system benign neoplasm that is located in the auditory system. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null "DO"] xref: NCI:C8417 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:2742 ! auditory system disease [Term] id: DOID:0080620 name: familial glucocorticoid deficiency def: "An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. (DO)" [https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency "DO"] xref: MIM:PS202200 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0080621 name: glucocorticoid deficiency 1 def: "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. (DO)" [PMID:19500760 "DO"] synonym: "ACTH resistance" EXACT [] synonym: "adrenal unresponsiveness to ACTH" EXACT [] synonym: "familial glucocorticoid deficiency 1" EXACT [] synonym: "FGD1" EXACT [] synonym: "GCCD1" EXACT [] xref: MESH:C565974 xref: MIM:202200 xref: MONDO:0024536 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080620 ! familial glucocorticoid deficiency is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0080622 name: peroxisome biogenesis disorder 2B def: "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. (DO)" [PMID:22871920 "DO"] synonym: "PBD2B" EXACT [] xref: MIM:202370 xref: NCI:C155751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:10588 ! adrenoleukodystrophy [Term] id: DOID:0080623 name: Heimler syndrome 1 alt_id: MIM:234580 def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)" [PMID:26387595 "DO"] synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" EXACT [] synonym: "Deafness Enamel Hypoplasia Nail Defects" EXACT [] synonym: "Deafness-enamel hypoplasia-nail defects syndrome" BROAD [] synonym: "Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects" EXACT [] synonym: "Heimler syndrome" EXACT [] synonym: "HMLR1" EXACT [] synonym: "PBD1C" EXACT [] synonym: "peroxisomal biogenesis disorder 1C" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER 1C" EXACT [] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" EXACT [] xref: MESH:C535994 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0080624 name: Heimler syndrome 2 def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. (DO)" [PMID:16530715 "DO"] synonym: "HMLR2" EXACT [] synonym: "PBD4C" EXACT [] synonym: "peroxisomal biogenesis disorder 4C" EXACT [] synonym: "peroxisome biogenesis disorder 4C" EXACT [] xref: MIM:616617 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0080625 name: severe congenital neutropenia 1 def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. (DO)" [PMID:17133096 "DO"] synonym: "ELANE-related condition" BROAD [] synonym: "SCN1" EXACT [] synonym: "severe congenital neutropenia, autosomal dominant 1" EXACT [] xref: MESH:C565969 xref: MIM:202700 xref: MONDO:0042490 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia [Term] id: DOID:0080626 name: corticosterone methyloxidase deficiency 1 alt_id: MIM:203400 def: "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. (DO)" [https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency "DO"] synonym: "18-alpha hydroxylase deficiency" EXACT [] synonym: "18-hydroxylase deficiency" EXACT [] synonym: "18-oxidase deficiency" EXACT [] synonym: "Aldosterone deficiency 1" EXACT [] synonym: "Aldosterone deficiency due to defect in 18-hydroxylase" EXACT [] synonym: "ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE" EXACT [] synonym: "ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE" EXACT [] synonym: "ALDOSTERONE DEFICIENCY I" EXACT [] synonym: "Aldosterone Deficiency Type I" EXACT [] synonym: "aldosterone synthase deficiency" BROAD [] synonym: "CMO I Deficiency" EXACT [] synonym: "CORTICOSTERONE 18-MONOOXYGENASE DEFICIENCY" EXACT [] synonym: "Corticosterone methyloxidase type 1 deficiency" EXACT [] synonym: "Corticosterone Methyloxidase Type I Deficiency" EXACT [] synonym: "CYP11B2-RELATED DISORDER" BROAD [] synonym: "EARLY-ONSET FAMILIAL HYPOALDOSTERONISM" BROAD [] synonym: "FAMILIAL HYPOALDOSTERONISM" BROAD [] synonym: "FHHA1A" EXACT [] synonym: "FHHA1B" EXACT [] synonym: "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1" EXACT [] synonym: "Hyperreninemic Hypoaldosteronism, Familial, Type I" EXACT [] synonym: "steroid 18-hydroxylase deficiency" EXACT [] synonym: "steroid 18-oxidase deficiency" EXACT [] xref: MESH:C537806 xref: ORDO:427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005658 ! Hypoaldosteronism [Term] id: DOID:0080627 name: alopecia-mental retardation syndrome def: "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. (DO)" [PMID:17451405 "DO"] xref: GARD:612 xref: MIM:PS203650 xref: ORDO:2850 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:0080628 name: alopecia-mental retardation syndrome 1 alt_id: MIM:203650 def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. (DO)" [PMID:28054173 "DO"] synonym: "AHSG-RELATED CONDITION" EXACT [] synonym: "alopecia-intellectual disability syndrome 1" EXACT [] synonym: "AMR Syndrome" EXACT [] synonym: "APMR1" EXACT [] xref: MESH:C565965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome [Term] id: DOID:0080629 name: alopecia-mental retardation syndrome 2 alt_id: MIM:610422 def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. (DO)" [PMID:16922726 "DO"] synonym: "alopecia-intellectual disability syndrome 2" EXACT [] synonym: "APMR2" EXACT [] xref: MESH:C563668 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome created_by: mtutaj creation_date: 2019-05-08T11:54:31Z [Term] id: DOID:0080630 name: B-lymphoblastic leukemia/lymphoma alt_id: DOID:7061 def: "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. (DO)" [https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia "DO"] synonym: "acute pre-B-cell leukemia" EXACT [] synonym: "B-ALL" EXACT [] synonym: "B-cell leukemia" EXACT [] synonym: "B-cell leukemias" EXACT [] synonym: "B-cell lymphocytic leukemia" EXACT [] synonym: "B-cell lymphocytic leukemias" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma, not otherwise specified" NARROW [] synonym: "B lymphocytic leukemia" EXACT [] synonym: "B-lymphocytic leukemias" EXACT [] synonym: "Pre B ALL" EXACT [] synonym: "pre-B-cell acute lymphoblastic leukemia" EXACT [] synonym: "pre-B-cell leukemia" EXACT [] synonym: "pre-B-cell leukemias" EXACT [] synonym: "precursor B cell lymphoblastic leukemia" EXACT [] synonym: "precursor B cell lymphoblastic lymphoma" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia" EXACT [] xref: EFO:0000094 xref: ICDO:9836/3 xref: MESH:D015448 xref: MESH:D015452 xref: MIM:176310 xref: NCI:C8936 is_a: DOID:0080638 ! B-cell acute lymphoblastic leukemia is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0080631 name: Elsahy-Waters syndrome alt_id: MIM:211380 def: "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. (DO)" [PMID:20949527 "DO"] synonym: "Brachioskeletogenital Syndrome" EXACT [] synonym: "branchioskeletogenital syndrome" EXACT [] synonym: "BSG syndrome" EXACT [] synonym: "CDH11-RELATED CONDITION" BROAD [] synonym: "ESWS" EXACT [] synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [] xref: GARD:955 xref: MESH:C537084 xref: ORDO:1299 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080632 name: Fazio-Londe disease def: "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK299312/ "DO"] synonym: "childhood progressive bulbar palsy" EXACT [] synonym: "Fazio Londe syndrome" EXACT [] synonym: "progressive bulbar palsy of childhood" EXACT [] synonym: "riboflavin transporter deficiency neuronopathy" EXACT [] xref: MIM:211500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:681 ! progressive bulbar palsy created_by: slaulede creation_date: 2019-01-11T18:12:54Z [Term] id: DOID:0080633 name: developmental cardiac valvular defect alt_id: MIM:212093 def: "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. (DO)" [PMID:29581714 "DO"] synonym: "cardiac valvular dysplasia 1" EXACT [] synonym: "CVDP1" EXACT [] synonym: "PLD1-RELATED CONDITION" EXACT [] xref: MESH:C565882 is_a: DOID:9007172 ! Cardiac Valvular Dysplasia [Term] id: DOID:0080634 name: nanophthalmos def: "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. (DO)" [https://eyewiki.aao.org/Nanophthalmos "DO"] synonym: "nanophthalmia" EXACT [] xref: MIM:PS600165 xref: ORDO:35612 is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080635 name: optic disc anomalies with retinal and/or macular dystrophy def: "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)" [PMID:24702266 "DO"] synonym: "ODRMD" EXACT [] synonym: "SIX6-RELATED CONDITION" EXACT [] xref: MIM:212550 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080636 name: syndromic microphthalmia def: "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. (DO)" [https://ghr.nlm.nih.gov/condition/microphthalmia "DO"] synonym: "syndromic microphthalmia, dominant" NARROW [] xref: MIM:PS309800 is_a: DOID:10629 ! microphthalmia created_by: mtutaj creation_date: 2019-06-25T12:16:09Z [Term] id: DOID:0080637 name: isolated microphthalmia def: "A microphthalmia that occurs by itself. (DO)" [https://ghr.nlm.nih.gov/condition/microphthalmia "DO"] is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080638 name: B-cell acute lymphoblastic leukemia def: "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia "DO"] synonym: "B acute lymphoblastic leukemia" EXACT [] synonym: "B-cell acute lymphoblastic leukemia, susceptibility to" RELATED [] synonym: "B-cell acute lymphocytic leukemia" EXACT [] synonym: "precursor B-cell acute lymphoblastic leukemia" NARROW [] xref: EFO:0000094 xref: MONDO:0020511 xref: NCI:C8644 is_a: DOID:0060058 ! lymphoma is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:0080639 name: bone sarcoma def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807 "DO"] xref: MONDO:0021054 xref: NCI:C9312 is_a: DOID:1115 ! sarcoma is_a: DOID:184 ! bone cancer [Term] id: DOID:0080640 name: gallbladder benign neoplasm def: "A biliary tract benign neoplasm that is located_in the gallbladder. (DO)" [https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15 "DO"] xref: NCI:C4440 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:9000011 ! Gallbladder Neoplasms created_by: slaulede creation_date: 2018-09-11T14:17:06Z [Term] id: DOID:0080641 name: tongue carcinoma def: "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null "DO"] is_a: DOID:305 ! carcinoma is_a: DOID:8649 ! tongue cancer [Term] id: DOID:0080642 name: Middle East respiratory syndrome def: "A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). (DO)" [https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome "DO", https://www.cdc.gov/mers/about/index.html "DO", https://www.who.int/health-topics/middle-east-respiratory-syndrome-coronavirus-mers "DO", PMID:23891402 "DO", PMID:29495250 "DO"] synonym: "MERS" EXACT [] synonym: "MERS (Middle East respiratory syndrome)" EXACT [] xref: MONDO:0100116 xref: NCI:C128424 is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080643 name: B-lymphoblastic leukemia/lymphoma with BCR-ABL1 def: "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331 "DO"] synonym: "ABL1-RELATED DISORDER" BROAD [] synonym: "B-ALL with BCR-ABL1" EXACT [] synonym: "BCR-ABL1" RELATED [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(9;22)(Q34.1;Q11.2)" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [] xref: ICDO:9812/3 xref: NCI:C80331 xref: ORDO:585909 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080644 name: B-lymphoblastic leukemia/lymphoma MLL rearranged def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342 "DO"] synonym: "B-ALL KMT2A rearranged" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma KMT2A rearranged" EXACT [] synonym: "B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged" EXACT [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(V;11Q23.3)" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged" EXACT [] synonym: "KMT2A rearranged" RELATED [] synonym: "MIXED PHENOTYPE ACUTE LEUKEMIA WITH T(V;11Q23.3)" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia with T(V;11Q23.3)" EXACT [] xref: ICDO:9813/3 xref: NCI:C80342 xref: ORDO:585918 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080645 name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 "DO"] synonym: "B-ALL with ETV6-RUNX1" EXACT [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(12;21)(P13.2;Q22.1)" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with T(12;21)(P13;Q22)" EXACT [] synonym: "ETV6-RUNX1" RELATED [] synonym: "precursor B lymphoblastic lymphoma/leukemia with T(12;21)(P13;Q22)" EXACT [] synonym: "TEL-AML1 (ETV6-RUNX1)" RELATED [] xref: ICDO:9814/3 xref: NCI:C80343 xref: ORDO:585929 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2019-06-25T12:14:21Z [Term] id: DOID:0080646 name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335 "DO"] synonym: "B-ALL with hyperdiploidy" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia with hyperdiploidy" EXACT [] xref: ICDO:9815/3 xref: NCI:C80335 xref: ORDO:585936 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080647 name: B-lymphoblastic leukemia/lymphoma with hypodiploidy def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338 "DO"] synonym: "B-ALL with hypodiploidy" EXACT [] xref: ICDO:9816/3 xref: NCI:C80338 xref: ORDO:585942 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080648 name: B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346 "DO"] synonym: "B-ALL with IL3-IGH" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with IL3-IGH" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH" EXACT [] xref: ICDO:9817/3 xref: MONDO:0850160 xref: NCI:C80346 xref: ORDO:585948 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080649 name: B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347 "DO"] synonym: "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [] synonym: "B-ALL with TCF3-PBX1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1" EXACT [] xref: ICDO:9818/3 xref: NCI:C80347 xref: ORDO:585956 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080650 name: B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like xref: MONDO:0850161 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080651 name: B-lymphoblastic leukemia/lymphoma with iAMP21 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039 "DO"] synonym: "B-ALL with iAMP21" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21" EXACT [] synonym: "Intrachromosomal amplification of chromosome 21 (iAMP21)" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia with intrachromosomal amplification of chromosome 21" EXACT [] xref: NCI:C130039 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080652 name: calcium oxalate nephrolithiasis def: "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. (DO)" [PMID:16570061 "DO"] synonym: "calcium oxalate urolithiasis" EXACT [] synonym: "CAON" EXACT [] xref: EFO:0009065 xref: MESH:C563477 xref: MIM:PS167030 xref: MONDO:0957318 is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:0080653 name: urolithiasis alt_id: DOID:9001149 alt_id: OMIA:001033 def: "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/ "DO"] synonym: "urinary lithiasis" EXACT [] xref: MESH:D052878 xref: NCI:C114688 is_a: DOID:18 ! urinary system disease created_by: mtutaj creation_date: 2019-03-21T14:26:54Z [Term] id: DOID:0080654 name: uric acid urolithiasis def: "An urolithiasis in which the composition of the stones is predominantly urate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/ "DO", PMID:14036165 "DO"] xref: MIM:191700 is_a: DOID:0080653 ! urolithiasis [Term] id: DOID:0080655 name: hypophosphatemic nephrolithiasis/osteoporosis def: "A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa020028 "DO"] synonym: "DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS OR OSTEOPOROSIS" EXACT [] xref: MIM:PS612286 is_a: DOID:0050336 ! hypophosphatemia is_a: DOID:0080652 ! calcium oxalate nephrolithiasis is_a: DOID:11476 ! osteoporosis is_a: DOID:557 ! kidney disease created_by: mtutaj creation_date: 2019-12-16T09:54:24Z [Term] id: DOID:0080656 name: 45,X/46,XY mixed gonadal dysgenesis def: "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. (DO)" [https://en.wikipedia.org/wiki/45\,X/46\,XY_mosaicism "DO"] xref: ORDO:1772 is_a: DOID:14449 ! mixed gonadal dysgenesis created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0080661 name: nonsyndromic aplasia cutis congenita def: "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita "DO", PMID:9415483 "DO"] synonym: "BMS1-RELATED CONDITION" EXACT [] xref: MIM:107600 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0080662 name: atrial standstill 1 alt_id: MIM:108770 def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. (DO)" [PMID:16176547 "DO"] synonym: "Atrial Cardiomyopathy with Heart Block" EXACT [] synonym: "Atrial Standstill" EXACT [] synonym: "Atrial Standstill 1, Digenic" EXACT [] synonym: "ATRST1" EXACT [] synonym: "familial cardiomyopathy with conduction disturbance" EXACT [] xref: MESH:C563984 xref: ORDO:1344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:9002195 ! Atrial Dilation and Standstill is_a: DOID:9003163 ! Heart Block created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0080663 name: atrial standstill 2 def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. (DO)" [PMID:16176547 "DO"] synonym: "ATRST2" EXACT [] synonym: "NPPA-RELATED CONDITION" BROAD [] xref: MIM:615745 xref: MONDO:0014329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:9002195 ! Atrial Dilation and Standstill [Term] id: DOID:0080664 name: diaphyseal medullary stenosis with malignant fibrous histiocytoma def: "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. (DO)" [PMID:22464254 "DO", PMID:8781110 "DO"] synonym: "BDMF" EXACT [] synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [] synonym: "bone dysplasia with malignant fibrous histiocytoma" EXACT [] synonym: "bone dysplasia with medullary fibrosarcoma" EXACT [] synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [] synonym: "DMSMFH" EXACT [] synonym: "Hardcastle syndrome" EXACT [] synonym: "limb-girdle myopathy with bone fragility" EXACT [] xref: GARD:10072 xref: MESH:C536104 xref: MESH:C536169 xref: MIM:112250 xref: MONDO:0007205 xref: NCI:C122660 xref: ORDO:85182 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4415 ! fibrous histiocytoma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0080665 name: warfarin resistance alt_id: MIM:122700 def: "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. (DO)" [https://ghr.nlm.nih.gov/condition/warfarin-resistance "DO"] synonym: "Coumarin Resistance" EXACT [] synonym: "poor metabolism of coumarin" EXACT [] xref: GARD:12721 xref: MESH:C563039 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080666 name: warfarin sensitivity def: "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. (DO)" [https://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance "DO"] synonym: "coumarin sensitivity" EXACT [] xref: MESH:C567080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2019-03-21T11:14:20Z [Term] id: DOID:0080667 name: spinal muscular atrophy type 0 def: "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO", PMID:10700538 "DO"] synonym: "very severe spinal muscular atrophy" EXACT [] xref: MONDO:0850170 is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:0080669 name: posterior polymorphous corneal dystrophy 4 def: "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. (DO)" [PMID:29499165 "DO"] synonym: "PPCD4" EXACT [] xref: MIM:618031 xref: MONDO:0054832 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy created_by: slaulede creation_date: 2018-07-10T00:00:00Z [Term] id: DOID:0080670 name: Meesmann corneal dystrophy 1 def: "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. (DO)" [PMID:22174841 "DO"] synonym: "KRT12-related condition" BROAD [] synonym: "MECD1" EXACT [] xref: MIM:122100 xref: MONDO:0020791 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060451 ! Meesmann corneal dystrophy created_by: slaulede creation_date: 2019-07-01T10:42:57Z [Term] id: DOID:0080671 name: Meesmann corneal dystrophy 2 def: "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. (DO)" [PMID:18806880 "DO"] synonym: "KRT3-related condition" BROAD [] synonym: "MECD2" EXACT [] xref: MIM:618767 xref: MONDO:0032904 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060451 ! Meesmann corneal dystrophy [Term] id: DOID:0080672 name: fibrochondrogenesis 1 def: "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)" [PMID:21035103 "DO"] synonym: "FBCG1" EXACT [] xref: MIM:228520 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060465 ! fibrochondrogenesis created_by: slaulede creation_date: 2019-08-16T13:47:28Z [Term] id: DOID:0080673 name: fibrochondrogenesis 2 def: "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. (DO)" [PMID:22246659 "DO"] synonym: "FBCG2" EXACT [] xref: MIM:614524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060465 ! fibrochondrogenesis [Term] id: DOID:0080674 name: luminal breast carcinoma B def: "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ "DO"] synonym: "breast tumor luminal" BROAD [] synonym: "luminal B breast cancer" EXACT [] xref: NCI:C53555 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:0080675 name: Stickler syndrome 2 alt_id: MIM:604841 def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)" [PMID:15286167 "DO"] synonym: "Stickler syndrome, beaded vitreous type" EXACT [] synonym: "Stickler syndrome, type 2" EXACT [] synonym: "Stickler Syndrome, Type II" EXACT [] synonym: "Stickler syndrome, vitreous type 2" EXACT [] synonym: "STL2" EXACT [] xref: MESH:C537493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome is_a: DOID:9726 ! vitreous detachment [Term] id: DOID:0080676 name: Stickler syndrome 1 alt_id: MIM:108300 alt_id: OMIA:001522 def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)" [PMID:21671392 "DO"] synonym: "AOM" EXACT [] synonym: "hereditary arthro-ophthalmo-dystrophy" EXACT [] synonym: "hereditary arthro-ophthalmopathy" EXACT [] synonym: "hereditary progressive arthroophthalmopathy" EXACT [] synonym: "Oculoskeletal dysplasia 1" EXACT [] synonym: "Stickler dysplasia" EXACT [] synonym: "Stickler syndrome, membranous vitreous type" EXACT [] synonym: "Stickler syndrome, type 1" EXACT [] synonym: "Stickler syndrome, type I" EXACT [] synonym: "Stickler syndrome, vitreous type 1" EXACT [] synonym: "STL1" EXACT [] xref: MESH:C537492 xref: NCI:C168733 xref: ORDO:90653 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome created_by: mtutaj creation_date: 2019-03-21T15:15:35Z [Term] id: DOID:0080677 name: otospondylomegaepiphyseal dysplasia, autosomal dominant def: "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. (DO)" [PMID:15372529 "DO"] synonym: "heterozygous OSMED" EXACT [] synonym: "Heterozygous Otospondylomegaepiphyseal Dysplasia" EXACT [] synonym: "OSMEDA" EXACT [] synonym: "Pierre Robin syndrome with fetal chondrodysplasia" EXACT [] synonym: "Stickler syndrome nonocular type" EXACT [] synonym: "Stickler syndrome, type 3" EXACT [] synonym: "Stickler syndrome, type III" EXACT [] synonym: "STL3" EXACT [] synonym: "Weissenbacher-Zweymuller syndrome, autosomal recessive" EXACT [] xref: MESH:C535776 xref: MESH:C537494 xref: MIM:184840 xref: MONDO:0008490 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:0080678 name: mucolipidosis III gamma def: "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. (DO)" [PMID:10712439 "DO"] synonym: "GNPTG-related condition" BROAD [] synonym: "ML IIIC" EXACT [] synonym: "ML III gamma" EXACT [] synonym: "mucolipidosis IIIC" EXACT [] synonym: "mucolipidosis III, complementation group C" EXACT [] synonym: "mucolipidosis III, Iranian variant form" EXACT [] synonym: "mucolipidosis III, variant form" RELATED [] synonym: "mucolipidosis type III gamma" EXACT [] xref: MESH:C565367 xref: MIM:252605 xref: MONDO:0009652 xref: NCI:C129978 xref: ORDO:423470 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080488 ! mucolipidosis is_a: DOID:3343 ! glycoproteinosis created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0080679 name: neuronal intestinal dysplasia type A def: "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. (DO)" [PMID:8882403 "DO"] synonym: "INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE" RELATED [] synonym: "NID A" EXACT [] synonym: "PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE" RELATED [] synonym: "VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE" RELATED [] synonym: "VSCN1" RELATED [] xref: GARD:3928 xref: MIM:243180 xref: MONDO:8000011 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:9000473 ! Familial Visceral Neuropathy [Term] id: DOID:0080680 name: neuronal intestinal dysplasia type B def: "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. (DO)" [PMID:8882403 "DO"] synonym: "NID B" EXACT [] xref: MIM:601223 is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:0080681 name: X-linked chronic idiopathic intestinal pseudo-obstruction def: "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. (DO)" [PMID:8644737 "DO"] synonym: "CIIP" EXACT [] synonym: "CIIPX" EXACT [] synonym: "CIIP, X-LINKED" EXACT [] synonym: "Congenital Idiopathic Intestinal Pseudoobstruction" EXACT [] synonym: "CONGENITAL SHORT BOWEL SYNDROME, X-LINKED" RELATED [] synonym: "Intestinal pseudoobstruction chronic idiopathic" EXACT [] synonym: "Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement" EXACT [] synonym: "IPOX" EXACT [] synonym: "neuronal intestinal pseudoobstruction, chronic idiopathic, X-linked" EXACT [] xref: GARD:3017 xref: MESH:C535532 xref: MIM:300048 xref: MONDO:0010232 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080072 ! intestinal pseudo-obstruction created_by: mtutaj creation_date: 2019-12-16T09:58:41Z [Term] id: DOID:0080682 name: autosomal dominant familial visceral neuropathy alt_id: MIM:609629 def: "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. (DO)" [PMID:16088914 "DO"] synonym: "familial enteric neuropathy" EXACT [] synonym: "familial visceral neuropathy3, autosomal dominant" EXACT [] synonym: "idiopathic intestinal pseudoobstruction" EXACT [] synonym: "neuropathic chronic intestinal pseudoobstruction" EXACT [] synonym: "VSCN3" EXACT [] xref: MESH:C566502 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000473 ! Familial Visceral Neuropathy is_a: DOID:9002025 ! Familial Visceral Myopathy [Term] id: DOID:0080683 name: nonsyndromic congenital nail disorder def: "A nail disease that is characterized by underdevelopment of nails. (DO)" [PMID:26149975 "DO"] xref: MIM:PS161050 is_a: DOID:0080015 ! physical disorder is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0080684 name: diffuse midline glioma, H3 K27M-mutant def: "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. (DO)" [https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf "DO", https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full "DO", PMID:31290035 "DO"] xref: NCI:C129309 xref: NCI:C94764 is_a: DOID:0080879 ! histone mutated tumor is_a: DOID:4202 ! brain stem glioma is_a: DOID:9004158 ! diffuse intrinsic pontine glioma created_by: slaulede creation_date: 2020-02-06T00:00:00Z [Term] id: DOID:0080685 name: aortic dissection def: "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK441963/ "DO"] synonym: "acute aortic dissection" EXACT [] synonym: "acute aortic dissections" EXACT [] synonym: "aortic dissections" EXACT [] synonym: "ASCENDING AORTIC DISSECTION" NARROW [] synonym: "DESCENDING AORTIC DISSECTION" NARROW [] xref: NCI:C50461 is_a: DOID:520 ! aortic disease [Term] id: DOID:0080686 name: tubular aggregate myopathy 2 def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO"] synonym: "ORAI1-related condition" BROAD [] synonym: "TAM2" EXACT [] xref: MIM:615883 xref: MONDO:0014383 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002092 ! Tubular Aggregate Myopathies created_by: mtutaj creation_date: 2019-02-08T14:29:12Z [Term] id: DOID:0080687 name: reducing body myopathy 1B def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)" [PMID:18952429 "DO"] synonym: "RBMX1B" EXACT [] synonym: "REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET" EXACT [] synonym: "reducing body myopathy, X-linked, childhood-onset" EXACT [] xref: MESH:C567468 xref: MIM:300718 xref: MONDO:0010415 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9002604 ! Reducing Body Myopathies [Term] id: DOID:0080688 name: mosaic variegated aneuploidy syndrome alt_id: DOID:9001721 def: "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. (DO)" [https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "DO"] synonym: "mosaic variegated aneuplody microcephaly syndrome" EXACT [] synonym: "mosaic variegated aneuploidy syndromes" EXACT [] synonym: "Warburton-Anyane-Yeboa Syndrome" EXACT [] xref: GARD:3007 xref: MESH:C536682 xref: MESH:C536987 xref: MIM:PS257300 xref: MONDO:0000141 xref: ORDO:1052 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2019-09-27T09:06:13Z [Term] id: DOID:0080689 name: mosaic variegated aneuploidy syndrome 3 def: "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. (DO)" [PMID:28553959 "DO"] synonym: "MVA3" EXACT [] synonym: "TRIP13-RELATED CONDITION" BROAD [] xref: MIM:617598 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080690 name: RASopathy alt_id: DOID:9003333 def: "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. (DO)" [https://en.wikipedia.org/wiki/RASopathy "DO", https://www.nature.com/articles/jhg2015114 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/ "DO"] synonym: "RAS/mitogen-activated protein kinase syndrome" EXACT [] synonym: "RASopathies" EXACT [] xref: EFO:1001502 is_a: DOID:225 ! syndrome [Term] id: DOID:0080691 name: Noonan syndrome-like disorder with loose anagen hair def: "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. (DO)" [https://rarediseases.info.nih.gov/diseases/10719/disease "DO"] synonym: "Noonan-like syndrome with loose anagen hair" EXACT [] xref: GARD:10719 xref: MESH:C564342 xref: MIM:PS607721 xref: ORDO:2701 is_a: DOID:0080690 ! RASopathy is_a: DOID:0111702 ! loose anagen hair syndrome is_a: DOID:9003091 ! Noonan Like Syndrome [Term] id: DOID:0080692 name: Noonan syndrome-like disorder with loose anagen hair 1 def: "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC4213265/ "DO", PMID:25137548 "DO", PMID:30329053 "DO"] synonym: "Mazzanti syndrome" EXACT [] synonym: "NSLH" EXACT [] synonym: "NSLH1" EXACT [] synonym: "SHOC2-RELATED CONDITION" EXACT [] synonym: "Tosti syndrome" EXACT [] xref: MIM:607721 is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair created_by: mtutaj creation_date: 2019-02-12T10:18:13Z [Term] id: DOID:0080693 name: Noonan syndrome-like disorder with loose anagen hair 2 def: "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. (DO)" [PMID:27264673 "DO", PMID:28211982 "DO"] synonym: "NSLH2" EXACT [] synonym: "PPP1CB-RELATED CONDITION" EXACT [] xref: MIM:617506 is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair [Term] id: DOID:0080694 name: Galloway-Mowat syndrome alt_id: DOID:0060364 def: "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. (DO)" [https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO", PMID:20083416 "DO", PMID:26123727 "DO"] synonym: "CAMOS" EXACT [] synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" EXACT [] synonym: "Galloway syndrome" EXACT [] synonym: "GAMOS" EXACT [] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] synonym: "microcephaly, hiatus hernia, and nephrotic syndrome" EXACT [] synonym: "nephrosis-microcephaly syndrome" EXACT [] synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [] xref: GARD:65 xref: MESH:C537311 xref: MESH:C537548 xref: MIM:PS251300 xref: MONDO:0009627 xref: NCI:C132195 xref: ORDO:2065 is_a: DOID:10907 ! microcephaly is_a: DOID:12642 ! hiatus hernia is_a: DOID:225 ! syndrome is_a: DOID:2527 ! nephrosis is_a: DOID:9277 ! primary cerebellar degeneration created_by: gthayman creation_date: 2019-03-20T00:00:00Z [Term] id: DOID:0080695 name: Burn-McKeown syndrome alt_id: MIM:608572 def: "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. (DO)" [https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK373577/ "DO"] synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" EXACT [] synonym: "BMKS" EXACT [] synonym: "choanal atresia - deafness - cardiac defects - dysmorphism syndrome" EXACT [] synonym: "TXNL4A-RELATED CONDITION" EXACT [] xref: GARD:10041 xref: MESH:C537411 xref: ORDO:1200 is_a: DOID:225 ! syndrome is_a: DOID:9001156 ! Oculootofacial Dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9008681 ! Deafness is_a: DOID:9574 ! choanal atresia [Term] id: DOID:0080696 name: Winchester syndrome def: "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. (DO)" [https://ghr.nlm.nih.gov/condition/winchester-syndrome "DO", PMID:29741626 "DO"] synonym: "MMP14-RELATED CONDITION" EXACT [] synonym: "Winchester disease" EXACT [] synonym: "Winchester-Grossman disease" EXACT [] synonym: "Winchester-Grossman syndrome" EXACT [] synonym: "WNCHRS" EXACT [] xref: GARD:7894 xref: MESH:C536709 xref: MIM:277950 xref: MONDO:0010201 xref: NCI:C170731 is_a: DOID:11476 ! osteoporosis is_a: DOID:225 ! syndrome is_a: DOID:9006081 ! Osteolysis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:0080697 name: Opitz GBBB syndrome alt_id: DOID:0050780 def: "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)" [http://www.genome.jp/dbget-bin/www_bget?ds\:H00583 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK1523/ "DO", https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome "DO", https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO", PMID:15558842 "DO"] synonym: "BBBG1" EXACT [] synonym: "GBBB1" EXACT [] synonym: "GBBB syndrome" EXACT [] synonym: "hypertelorism-hypospadias sydrome" EXACT [] synonym: "hypertelorism with esophageal abnormalities and hypospadias" EXACT [] synonym: "hypertelorism with esophageal abnormality and hypospadias" EXACT [] synonym: "MID1-related condition" BROAD [] synonym: "OGS1" EXACT [] synonym: "Opitz BBB-G syndrome" EXACT [] synonym: "Opitz BBBG syndrome" EXACT [] synonym: "Opitz BBBG syndrome, type I" EXACT [] synonym: "Opitz G/BBB syndrome" EXACT [] synonym: "Opitz GBBB syndrome type I" EXACT [] synonym: "Opitz GBBB syndrome, X-linked" EXACT [] synonym: "Opitz-G syndrome, type I" EXACT [] synonym: "Opitz Syndrome" EXACT [] synonym: "OS" EXACT [] synonym: "OSX" EXACT [] synonym: "telecanthus-hypospadias syndrome" EXACT [] synonym: "X-linked Opitz syndrome" EXACT [] synonym: "X-linked Opitz syndrome (XLOS)" EXACT [] xref: GARD:193 xref: MESH:C567932 xref: MIM:300000 xref: MONDO:0017138 xref: NCI:C125487 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10892 ! hypospadias is_a: DOID:674 ! cleft palate is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9003591 ! Telecanthus created_by: mtutaj creation_date: 2019-03-26T00:00:00Z [Term] id: DOID:0080698 name: Teebi hypertelorism syndrome 1 alt_id: DOID:9003103 def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. (DO)" [PMID:25412741 "DO", PMID:30472488 "DO", PMID:31953237 "DO"] synonym: "autosomal dominant Opitz syndrome (ADOS)" EXACT [] synonym: "BBB syndrome" EXACT [] synonym: "chromosome 22q11.2 deletion syndrome, Opitz phenotype" EXACT [] synonym: "GBBB2" EXACT [] synonym: "G SYNDROME" EXACT [] synonym: "Hypospadias-Dysphagia Syndrome" EXACT [] synonym: "OGS2" EXACT [] synonym: "Opitz BBB Syndrome" EXACT [] synonym: "Opitz-Frias syndrome" EXACT [] synonym: "Opitz GBBB syndrome, autosomal dominant" EXACT [] synonym: "Opitz GBBB syndrome type II" EXACT [] synonym: "Opitz G syndrome" EXACT [] synonym: "Opitz-G syndrome, type 2" EXACT [] synonym: "Opitz-G syndrome, type II" EXACT [] synonym: "Opitz oculogenitolaryngeal syndrome, type II" EXACT [] synonym: "SPECC1L-RELATED CONDITION" BROAD [] synonym: "SPECC1L-related hypertelorism syndrome" EXACT [] synonym: "SPECC1L-RELATED SYNDROME" EXACT [] synonym: "TBHS1" EXACT [] synonym: "telecanthus with associated abnormalities" EXACT [] xref: MESH:C538387 xref: MIM:145420 xref: ORDO:1519 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081073 ! Teebi hypertelorism syndrome created_by: mtutaj creation_date: 2020-02-05T15:44:29Z [Term] id: DOID:0080699 name: glutathione synthetase deficiency def: "An amino acid metabolic disorder characterized by the lack of glutathione production. (DO)" [https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency "DO", PMID:31198081 "DO"] synonym: "deficiency of glutathione synthase" EXACT [] synonym: "deficiency of glutathione synthetase" EXACT [] synonym: "GSSD" EXACT [] synonym: "INHERITED GLUTATHIONE SYNTHETASE DEFICIENCY" EXACT [] synonym: "pyroglutamic acidemia" EXACT [] synonym: "pyroglutamic aciduria" EXACT [] xref: GARD:10047 xref: MESH:C536835 xref: MONDO:0017909 xref: NCI:C128193 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080700 name: caudal regression syndrome def: "A physical disorder that is characterized by impairment of the development of the lower half of the body. (DO)" [PMID:30574238 "DO", PMID:32200015 "DO"] synonym: "agenesis of sacrum" EXACT [] synonym: "caudal dysgenesis syndrome" EXACT [] synonym: "caudal dysplasia sequence" EXACT [] synonym: "caudal regression sequence" EXACT [] synonym: "Hypoplasia of sacrum" EXACT [] synonym: "Lumbosacral agenesis" EXACT [] synonym: "sacral agenesis" EXACT [] synonym: "Sacral Defect and Anterior Sacral Meningocele" EXACT [] synonym: "Sacral defect anterior meningocele" EXACT [] synonym: "sacral defect with anterior meningocele" EXACT [] synonym: "SDAM caudal dysgenesis syndrome" NARROW [] synonym: "sirenomelia" NARROW [] xref: MESH:C537221 xref: MIM:600145 xref: MONDO:0010831 is_a: DOID:0080015 ! physical disorder is_a: DOID:1088 ! meningocele is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080701 name: prothrombin thrombophilia def: "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. (DO)" [PMID:21707594 "DO"] synonym: "hyperprothrombinemia" EXACT [] synonym: "prothrombin G20210a thrombophilia" EXACT [] xref: MESH:C566755 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia created_by: mtutaj creation_date: 2019-02-13T13:16:05Z [Term] id: DOID:0080702 name: medulloblastoma WNT activated def: "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. (DO)" [https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us "DO", PMID:29582169 "DO"] xref: ICDO:9475/3 xref: NCI:C129440 is_a: DOID:0050902 ! medulloblastoma created_by: mtutaj creation_date: 2020-04-23T10:15:56Z [Term] id: DOID:0080703 name: medulloblastoma SHH activated def: "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. (DO)" [https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762 "DO", https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us "DO", PMID:29582169 "DO"] xref: NCI:C129441 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080704 name: medulloblastoma SHH activated and TP53 mutant def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. (DO)" [https://ascopubs.org/doi/10.1200/JCO.2012.48.5052 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/ "DO"] xref: ICDO:9476/3 xref: NCI:C129442 is_a: DOID:0080703 ! medulloblastoma SHH activated created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:0080705 name: medulloblastoma SHH activated and TP53 wild-type def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/ "DO"] synonym: "Medulloblastoma SHH-Activated TP53-Wildtype" EXACT [] xref: ICDO:9471/3 xref: NCI:C129443 is_a: DOID:0080703 ! medulloblastoma SHH activated [Term] id: DOID:0080706 name: medulloblastoma non-WNT/non-SHH def: "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. (DO)" [PMID:30392813 "DO"] xref: ICDO:9477/3 xref: NCI:C129444 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080707 name: medulloblastoma non-WNT/non-SHH group 3 def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. (DO)" [PMID:29427151 "DO", PMID:30876441 "DO"] xref: NCI:C129445 is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH [Term] id: DOID:0080708 name: medulloblastoma non-WNT/non-SHH group 4 def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present. (DO)" [PMID:29427151 "DO"] xref: NCI:C129446 is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH [Term] id: DOID:0080709 name: NK cell deficiency def: "A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood. (DO)" [https://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full "DO"] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080710 name: T cell and NK cell immunodeficiency def: "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. (DO)" [PMID:31257346 "DO"] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080711 name: multisystem inflammatory syndrome in children def: "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC9841678/ "DO", https://www.cdc.gov/mis/about/ "DO", https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x "DO", PMID:40074901 "DO"] synonym: "MIS-C" EXACT [] synonym: "multisystem inflammatory disorder in children and adolescents" EXACT [] synonym: "paediatric inflammatory multisystemic syndrome" EXACT [] xref: MESH:C000705967 xref: MONDO:0035375 is_a: DOID:0080599 ! Coronavirus infectious disease created_by: slaulede creation_date: 2020-02-06T13:19:38Z [Term] id: DOID:0080712 name: gene duplication disease def: "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. (DO)" [https://www.genome.gov/genetics-glossary/Duplication "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/ "DO"] synonym: "gene duplication syndrome" EXACT [] is_a: DOID:0050177 ! monogenic disease created_by: gthayman creation_date: 2019-06-17T13:10:35Z [Term] id: DOID:0080714 name: hereditary alpha tryptasemia syndrome def: "A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. (DO)" [https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome "DO", https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq "DO", PMID:27749843 "DO", PMID:30007465 "DO"] xref: GARD:13193 is_a: DOID:0080712 ! gene duplication disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080715 name: developmental and epileptic encephalopathy 82 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. (DO)" [PMID:31422819 "DO"] synonym: "DEE82" EXACT [] synonym: "deficiency of mitochondrial glutamate oxaloacetate transaminase" EXACT [] synonym: "early infantile epileptic encephalopathy 82" EXACT [] synonym: "EIEE82" EXACT [] synonym: "GOT2 deficiency" EXACT [] synonym: "GOT2-RELATED CONDITION" EXACT [] xref: MIM:618721 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080716 name: infantile liver failure syndrome def: "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. (DO)" [https://rarediseases.info.nih.gov/diseases/13114/disease "DO"] xref: MIM:PS615438 xref: ORDO:370088 is_a: DOID:225 ! syndrome is_a: DOID:9004590 ! Acute Liver Failure created_by: mtutaj creation_date: 2020-03-27T12:02:54Z [Term] id: DOID:0080717 name: infantile liver failure syndrome 1 def: "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. (DO)" [PMID:22607940 "DO"] synonym: "acute infantile liver failure-multisystemic involvement syndrome" EXACT [] synonym: "ILFS1" EXACT [] synonym: "LARS1-RELATED CONDITION" EXACT [] xref: GARD:13114 xref: MIM:615438 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080716 ! infantile liver failure syndrome [Term] id: DOID:0080718 name: GNE myopathy def: "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. (DO)" [https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 "DO", https://rarediseases.org/rare-diseases/gne-myopathy/ "DO", https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy "DO", PMID:29720219 "DO", PMID:30338442 "DO"] synonym: "distal myopathy, Nonaka type" EXACT [] synonym: "DMRV" EXACT [] synonym: "IBM2" EXACT [] synonym: "inclusion body myopathy 2" EXACT [] synonym: "inclusion body myopathy 2, autosomal recessive" EXACT [] synonym: "inclusion body myopathy, autosomal recessive" EXACT [] synonym: "inclusion body myopathy, hereditary, autosomal recessive" EXACT [] synonym: "inclusion body myopathy, quadriceps sparing" EXACT [] synonym: "NM" EXACT [] synonym: "Nonaka distal myopathy" EXACT [] synonym: "Nonaka myopathy" EXACT [] synonym: "QSM" EXACT [] synonym: "rimmed vacuole myopathy" EXACT [] xref: GARD:9493 xref: MESH:C536816 xref: MESH:C538329 xref: MIM:605820 xref: MONDO:0011603 xref: NCI:C176900 xref: ORDO:602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11720 ! distal myopathy is_a: DOID:3429 ! inclusion body myositis [Term] id: DOID:0080719 name: congenital myopathy 6 def: "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)" [PMID:24193343 "DO"] synonym: "CMYO6" EXACT [] synonym: "CMYP6" EXACT [] synonym: "congenital myopathy 6 with ophthalmoplegia" EXACT [] synonym: "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" EXACT [] synonym: "IBM3" EXACT [] synonym: "inclusion body myopathy 3" EXACT [] synonym: "inclusion body myopathy 3, autosomal dominant" EXACT [] synonym: "inclusion body myopathy, autosomal dominant" EXACT [] synonym: "inclusion body myopathy, dominant" EXACT [] synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" EXACT [] synonym: "MYPOP" EXACT [] synonym: "proximal myopathy and ophthalmoplegia" EXACT [] xref: GARD:9494 xref: MESH:C538330 xref: MESH:C565311 xref: MIM:605637 xref: MONDO:0011577 xref: ORDO:79091 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:3429 ! inclusion body myositis is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9006836 ! Contracture [Term] id: DOID:0080720 name: autosomal dominant congenital deafness with onychodystrophy alt_id: MIM:124480 def: "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. (DO)" [PMID:28396750 "DO"] synonym: "ATP6V1B2-RELATED CONDITION" BROAD [] synonym: "congenital deafness, and onychodystrophy, autosomal dominant" EXACT [] synonym: "DDOD" EXACT [] synonym: "DDOD syndrome" EXACT [] xref: GARD:4732 xref: MESH:C567274 xref: NCI:C175240 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9008681 ! Deafness is_a: DOID:9009007 ! Tooth Abnormalities created_by: rgd creation_date: 2018-01-17T14:42:54Z [Term] id: DOID:0080721 name: calvarial doughnut lesions with bone fragility def: "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/ "DO"] synonym: "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA" NARROW [] synonym: "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY WITH OR WITHOUT SPONDYLOMETAPHYSEAL DYSPLASIA" EXACT [] synonym: "CDL" EXACT [] synonym: "familial doughnut lesions of skull" EXACT [] synonym: "SGMS2-related condition" BROAD [] xref: MESH:C565089 xref: MIM:126550 xref: MONDO:0007470 xref: ORDO:85192 is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2020-01-28T13:07:19Z [Term] id: DOID:0080722 name: Kenny-Caffey syndrome type 1 alt_id: MIM:244460 def: "A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. (DO)" [PMID:9806825 "DO"] synonym: "KCS1" EXACT [] synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [] synonym: "Kenny-Caffey syndrome, autosomal recessive form" EXACT [] synonym: "Kenny-Caffey syndrome, type I" EXACT [] xref: GARD:8367 xref: MESH:C537021 xref: ORDO:93324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080724 ! Kenny-Caffey syndrome created_by: slaulede creation_date: 2019-08-06T11:01:04Z [Term] id: DOID:0080723 name: Kenny-Caffey syndrome type 2 alt_id: MIM:127000 def: "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. (DO)" [PMID:23996431 "DO"] synonym: "autosomal dominant Kenny-Caffey syndrome" EXACT [] synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" EXACT [] synonym: "FAM111A-RELATED CONDITION" BROAD [] synonym: "KCS2" EXACT [] synonym: "Kenny-Caffey syndrome 2" EXACT [] synonym: "Kenny syndrome" EXACT [] xref: GARD:83 xref: MESH:C537020 xref: MONDO:0007478 xref: ORDO:93325 is_a: DOID:0080724 ! Kenny-Caffey syndrome is_a: DOID:0090109 ! autosomal dominant hypocalcemia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080724 name: Kenny-Caffey syndrome def: "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. (DO)" [https://en.wikipedia.org/wiki/Kenny-Caffey_syndrome "DO"] synonym: "KCS" EXACT [] xref: MIM:PS127000 xref: ORDO:2333 is_a: DOID:225 ! syndrome is_a: DOID:4257 ! Caffey disease [Term] id: DOID:0080725 name: BASAN syndrome alt_id: MIM:129200 def: "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. (DO)" [PMID:8340514 "DO"] synonym: "ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES" EXACT [] synonym: "ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE" EXACT [] synonym: "ectodermal dysplasia, absent dermatoglyphics" EXACT [] xref: GARD:2336 xref: MESH:C537659 xref: ORDO:1658 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0080726 name: Ehlers-Danlos syndrome classic type 2 alt_id: MIM:130010 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)" [PMID:22696272 "DO"] synonym: "COL5A2-RELATED CONDITION" EXACT [] synonym: "EDS2" EXACT [] synonym: "EDSCL2" EXACT [] synonym: "EDS II" EXACT [] synonym: "Ehlers-Danlos syndrome, mild classic type" EXACT [] synonym: "Ehlers-Danlos syndrome, MITIS type" EXACT [] synonym: "Ehlers-Danlos Syndrome Type 2" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type 2 Atypical" EXACT [] synonym: "Ehlers-Danlos syndrome type II" EXACT [] xref: MESH:C536195 xref: NCI:C125697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080727 name: Ehlers-Danlos syndrome arthrochalasia type 1 alt_id: MIM:130060 def: "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. (DO)" [PMID:18409203 "DO"] synonym: "Arthrochalasis Multiplex Congenita" EXACT [] synonym: "EDS7A" EXACT [] synonym: "EDS VIIA" EXACT [] synonym: "EDS VII, Mutant Procollagen Type" EXACT [] synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [] synonym: "Ehlers-Danlos syndrome, type 7A" EXACT [] synonym: "Ehlers-Danlos syndrome type VII, autosomal dominant" EXACT [] xref: MESH:C562625 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7 [Term] id: DOID:0080728 name: Ehlers-Danlos syndrome arthrochalasia type 2 alt_id: DOID:9004487 alt_id: MESH:C565061 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)" [PMID:18409203 "DO"] synonym: "EDS7B" EXACT [] synonym: "EDSARTH2" EXACT [] synonym: "EDS VIIB" EXACT [] synonym: "Ehlers-Danlos syndrome type VIIB, autosomal dominant" EXACT [] xref: MIM:617821 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7 created_by: slaulede creation_date: 2020-03-13T00:00:00Z [Term] id: DOID:0080729 name: brittle cornea syndrome 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. (DO)" [PMID:28306229 "DO"] synonym: "BCS2" EXACT [] synonym: "PRDM5-related condition" BROAD [] xref: MIM:614170 xref: MONDO:0013605 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11343 ! scleral disease is_a: DOID:9005468 ! Brittle Cornea Syndrome [Term] id: DOID:0080730 name: Ehlers-Danlos syndrome cardiac valvular type def: "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)" [PMID:16816023 "DO"] synonym: "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" EXACT [] synonym: "cardiac valvular form of Ehlers-Danlos syndrome" EXACT [] synonym: "EDSCV" EXACT [] synonym: "Ehlers-Danlos Syndrome, Arthrochalasis Type" EXACT [] synonym: "Ehlers-Danlos syndrome, cardiac valvular form" EXACT [] synonym: "Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive" EXACT [] xref: MESH:C536200 xref: MIM:225320 xref: MONDO:0009159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080731 name: Ehlers-Danlos syndrome classic-like 1 def: "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. (DO)" [PMID:28306229 "DO"] synonym: "EDSCLL" EXACT [] synonym: "EDS due to TNX deficiency" EXACT [] synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" EXACT [] synonym: "Ehlers-Danlos syndrome caused by tenascin-X deficiency" EXACT [] synonym: "Ehlers-Danlos syndrome, classic-like" EXACT [] synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [] synonym: "TNXB-related condition" BROAD [] synonym: "TNX deficiency" EXACT [] xref: MESH:C536193 xref: MIM:606408 xref: MONDO:0011670 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080732 name: Ehlers-Danlos syndrome classic-like 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. (DO)" [PMID:28306229 "DO"] synonym: "AEBP1-RELATED CONDITION" EXACT [] synonym: "EDSCLL2" EXACT [] xref: MIM:618000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080733 name: Ehlers-Danlos syndrome dermatosparaxis type alt_id: MIM:225410 def: "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (DO)" [PMID:28306229 "DO"] synonym: "ADAMTS2-RELATED CONDITION" EXACT [] synonym: "dermatosparaxis" EXACT [] synonym: "EDS7C" EXACT [] synonym: "EDS VIIC" EXACT [] synonym: "Ehlers-Danlos syndrome type VII, autosomal recessive" EXACT [] xref: MESH:C567527 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7 created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080734 name: Ehlers-Danlos syndrome kyphoscoliotic type 1 def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. (DO)" [PMID:28306229 "DO"] synonym: "cerebral gigantism nevo type" EXACT [] synonym: "EDS6" EXACT [] synonym: "EDS6A" EXACT [] synonym: "EDS VI" EXACT [] synonym: "Ehlers-Danlos syndrome, hydroxylysine-deficient" EXACT [] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE" EXACT [] synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT [] synonym: "Ehlers-Danlos Syndrome Type 6" EXACT [] synonym: "Ehlers-Danlos syndrome, type 6 A" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type VI" EXACT [] synonym: "Ehlers-Danlos syndrome, type VIA" EXACT [] synonym: "Nevo syndrome" EXACT [] xref: MESH:C536113 xref: MESH:C536198 xref: MIM:225400 xref: MONDO:0016002 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: gthayman creation_date: 2019-06-11T16:46:42Z [Term] id: DOID:0080735 name: Ehlers-Danlos syndrome kyphoscoliotic type 2 def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (DO)" [PMID:28306229 "DO"] synonym: "EDSKMH" EXACT [] synonym: "EDSKSCL2" EXACT [] synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [] xref: MIM:614557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080000 ! muscular disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004998 ! Kyphoscoliosis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080736 name: Ehlers-Danlos syndrome musculocontractural type 1 alt_id: MIM:601776 def: "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. (DO)" [PMID:28306229 "DO"] synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" EXACT [] synonym: "adducted thumb-clubfoot syndrome" EXACT [] synonym: "adducted thumbs Dundar type" EXACT [] synonym: "ATCS" EXACT [] synonym: "CHST14-RELATED CONDITION" EXACT [] synonym: "distal arthrogryposis with peculiar facies and hydronephrosis" EXACT [] synonym: "Dundar syndrome" EXACT [] synonym: "EDS6B (formerly)" EXACT [] synonym: "EDSMC" EXACT [] synonym: "EDSMC1" EXACT [] synonym: "Ehlers-Danlos syndrome, type VIB (formerly)" EXACT [] xref: MESH:C000600608 xref: NCI:C168975 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: mtutaj creation_date: 2019-11-22T10:15:03Z [Term] id: DOID:0080737 name: Ehlers-Danlos syndrome musculocontractural type 2 def: "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. (DO)" [PMID:28306229 "DO"] synonym: "DSE-RELATED CONDITION" EXACT [] synonym: "EDSMC2" EXACT [] xref: MIM:615539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:11836 ! clubfoot is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:9004014 ! Adducted Thumbs Syndrome created_by: slaulede creation_date: 2018-09-14T14:19:19Z [Term] id: DOID:0080738 name: Ehlers-Danlos syndrome spondylodysplastic type 1 alt_id: MIM:130070 def: "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. (DO)" [PMID:23956117 "DO"] synonym: "B4GALT7-RELATED CONDITION" EXACT [] synonym: "defective biosynthesis of PDS" EXACT [] synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [] synonym: "dermatan sulfate proteoglycan" EXACT [] synonym: "EDSP1" EXACT [] synonym: "EDSSLA" EXACT [] synonym: "Ehlers-Danlos Syndrome, Progeroid Type, 1" EXACT [] synonym: "EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES" EXACT [] synonym: "Galactosyltransferase 1 deficiency" EXACT [] synonym: "Galactosyltransferase I Deficiency" EXACT [] synonym: "XGPT deficiency" EXACT [] synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" EXACT [] xref: MESH:C536201 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080739 name: Ehlers-Danlos syndrome spondylodysplastic type 3 alt_id: DOID:9002616 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. (DO)" [PMID:18513683 "DO"] synonym: "SCD-EDS" EXACT [] synonym: "SCDEDS" EXACT [] synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" EXACT [] xref: MESH:C567340 xref: MIM:612350 xref: MONDO:0012873 is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080740 name: Libman-Sacks endocarditis def: "A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. (DO)" [PMID:25807885 "DO", PMID:30422459 "DO"] synonym: "Libmann-Sachs, endocarditis in systemic lupus erythematosus" EXACT [] xref: ICD10CM:M32.11 xref: MONDO:0850223 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:0060068 ! nonbacterial thrombotic endocarditis created_by: mtutaj creation_date: 2019-11-21T12:06:27Z [Term] id: DOID:0080741 name: limbic encephalitis alt_id: DOID:9000429 def: "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/ "DO"] synonym: "autoimmune limbic encephalitis" EXACT [] synonym: "paraneoplastic limbic encephalitis" EXACT [] xref: GARD:8742 xref: MESH:C531729 xref: MESH:D020363 xref: MONDO:0015588 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes is_a: DOID:9588 ! encephalitis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080742 name: autoimmune cholangitis def: "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. (DO)" [PMID:15560034 "DO", PMID:25374727 "DO"] synonym: "autoimmune cholangiopathy" EXACT [] is_a: DOID:2048 ! autoimmune hepatitis is_a: DOID:9446 ! cholangitis created_by: slaulede creation_date: 2018-04-18T11:50:33Z [Term] id: DOID:0080743 name: transverse myelitis def: "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. (DO)" [https://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726 "DO", https://www.ninds.nih.gov/health-information/disorders/transverse-myelitis "DO"] synonym: "acute transverse myelitis" EXACT [] synonym: "Demyelinative Myelitis" EXACT [] synonym: "IDIOPATHIC TRANSVERSE MYELITIS" NARROW [] synonym: "Necrotizing Myelitis" EXACT [] synonym: "Paraneoplastic Myelitis" EXACT [] synonym: "Postinfectious Myelitis" EXACT [] synonym: "Postvaccinal Myelitis" EXACT [] synonym: "subacute transverse myelitides" EXACT [] synonym: "Subacute Transverse Myelitis" EXACT [] synonym: "transverse myelopathy syndrome" EXACT [] synonym: "transverse myelopathy syndromes" EXACT [] xref: MESH:D009188 is_a: DOID:322 ! myelitis is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080744 name: antisynthetase syndrome def: "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. (DO)" [https://en.wikipedia.org/wiki/Antisynthetase_syndrome "DO", PMID:27594777 "DO"] xref: EFO:1001982 xref: GARD:735 xref: MESH:C537778 xref: ORDO:81 is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease is_a: DOID:633 ! myositis created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:0080745 name: polymyositis alt_id: DOID:9007919 def: "A myositis that is characterized by muscle weakness affecting both sides of your body. (DO)" [https://my.clevelandclinic.org/health/diseases/12053-polymyositis "DO", https://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208 "DO"] synonym: "idiopathic polymyositis" EXACT [] synonym: "Juvenile Polymyositis" NARROW [] synonym: "Multiple Myositis" EXACT [] synonym: "Myositides, Multiple" EXACT [] synonym: "polymyositides" EXACT [] synonym: "polymyositis ossificans" EXACT [] synonym: "Scleroderma Polymyositis Overlap Syndrome" NARROW [] xref: EFO:0003063 xref: EFO:1001988 xref: EFO:1001994 xref: GARD:7425 xref: MESH:D017285 xref: MONDO:0019127 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:633 ! myositis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080746 name: Sweet syndrome def: "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. (DO)" [https://rarediseases.org/rare-diseases/sweet-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK431050/ "DO", PMID:17655751 "DO"] synonym: "acute febrile neutrophilic dermatosis" EXACT [] synonym: "AFND" EXACT [] synonym: "Gomm-Button disease" EXACT [] synonym: "MEFV-related condition" BROAD [] synonym: "NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE" EXACT [] synonym: "PAAND" EXACT [] synonym: "pyrin-associated autoinflammatory disease" EXACT [] synonym: "SS" EXACT [] synonym: "Sweet's syndrome" EXACT [] synonym: "Sweets syndrome" EXACT [] xref: GARD:521 xref: MESH:D016463 xref: MIM:608068 xref: MONDO:0011959 is_a: DOID:1205 ! allergic disease is_a: DOID:225 ! syndrome is_a: DOID:9006976 ! Erythema created_by: slaulede creation_date: 2018-06-19T14:06:53Z [Term] id: DOID:0080747 name: chronic urticaria def: "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. (DO)" [PMID:30033911 "DO"] synonym: "autoimmune urticaria" EXACT [] synonym: "chronic autoimmune urticaria" EXACT [] xref: MESH:D000080223 is_a: DOID:1555 ! urticaria created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080748 name: chronic inducible urticaria def: "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ "DO"] synonym: "chronic inducible urticarias" EXACT [] synonym: "CIndU" EXACT [] is_a: DOID:0080747 ! chronic urticaria created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080749 name: chronic spontaneous urticaria def: "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ "DO", PMID:14501436 "DO", PMID:28671445 "DO"] synonym: "chronic idiopathic urticaria" EXACT [] synonym: "chronic spontaneous urticarias" EXACT [] is_a: DOID:0080747 ! chronic urticaria created_by: mtutaj creation_date: 2019-03-19T12:34:20Z [Term] id: DOID:0080750 name: erythema nodosum def: "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. (DO)" [https://en.wikipedia.org/wiki/Erythema_nodosum "DO", PMID:30269303 "DO"] xref: MESH:D004893 is_a: DOID:1526 ! panniculitis is_a: DOID:9005236 ! Drug Eruptions is_a: DOID:9006976 ! Erythema created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080751 name: keratosis pilaris atrophicans def: "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. (DO)" [PMID:26142438 "DO"] synonym: "KPA" EXACT [] synonym: "LRP1-RELATED CONDITION" BROAD [] xref: MIM:604093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1697 ! ichthyosis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080752 name: keratosis pilaris atrophicans faciei def: "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. (DO)" [https://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/ "DO"] is_a: DOID:0080751 ! keratosis pilaris atrophicans created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080753 name: keratosis follicularis spinulosa decalvans def: "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/ "DO"] xref: ORDO:2340 is_a: DOID:0080751 ! keratosis pilaris atrophicans is_a: DOID:2734 ! keratosis follicularis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080754 name: X-linked keratosis follicularis spinulosa decalvans alt_id: MIM:308800 def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. (DO)" [PMID:18984066 "DO"] synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" EXACT [] synonym: "KFSDX" EXACT [] xref: GARD:6829 xref: MESH:C536159 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080755 name: autosomal dominant keratosis follicularis spinulosa decalvans alt_id: MIM:612843 def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:18984066 "DO"] xref: MESH:C567553 is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans is_a: DOID:9003137 ! Photophobia is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080756 name: atrophoderma vermiculata def: "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. (DO)" [PMID:19326693 "DO"] xref: GARD:9744 xref: MIM:209700 xref: ORDO:79100 is_a: DOID:0080751 ! keratosis pilaris atrophicans created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080757 name: Fanconi renotubular syndrome 1 def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. (DO)" [PMID:11090339 "DO"] synonym: "FRTS1" EXACT [] synonym: "GATM-RELATED CONDITION" BROAD [] xref: MIM:134600 xref: MONDO:0024525 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080758 name: Fanconi renotubular syndrome 2 def: "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [https://ghr.nlm.nih.gov/gene/SLC34A1 "DO", PMID:26047794 "DO"] synonym: "FRTS2" EXACT [] xref: MIM:613388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1062 ! Fanconi syndrome created_by: slaulede creation_date: 2018-08-17T14:06:11Z [Term] id: DOID:0080759 name: Fanconi renotubular syndrome 3 def: "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. (DO)" [PMID:24401050 "DO"] synonym: "EHHADH-RELATED CONDITION" EXACT [] synonym: "Fanconi syndrome 3" EXACT [] synonym: "FRTS3" EXACT [] xref: MIM:615605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080760 name: Fanconi renotubular syndrome 4 def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. (DO)" [PMID:24285859 "DO", PMID:31875549 "DO"] synonym: "Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young" EXACT [] synonym: "FRTS4" EXACT [] synonym: "FRTS4 with MOD" EXACT [] synonym: "FRTS4 with MODY" EXACT [] xref: MIM:616026 is_a: DOID:0050524 ! maturity-onset diabetes of the young is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080761 name: Fanconi renotubular syndrome 5 def: "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. (DO)" [PMID:27466185 "DO"] synonym: "Acadian-variant Fanconi syndrome" EXACT [] synonym: "FRTS5" EXACT [] synonym: "NDUFAF6-RELATED CONDITION" BROAD [] xref: MIM:618913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2019-04-09T15:35:57Z [Term] id: DOID:0080762 name: autosomal recessive limb-girdle muscular dystrophy type 2Z def: "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. (DO)" [PMID:27807076 "DO", PMID:31897643 "DO"] synonym: "LGMD2Z" EXACT [] synonym: "LGMDR21" EXACT [] synonym: "LGMD type 2Z" EXACT [] synonym: "limb-girdle muscular dystrophy 21" EXACT [] synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [] synonym: "POGLUT1-related condition" BROAD [] synonym: "POGLUT1-related LGMD R21" EXACT [] synonym: "POGLUT1-related limb-girdle muscular dystrophy R21" EXACT [] xref: MIM:617232 xref: MONDO:0014977 xref: NCI:C142082 xref: ORDO:480682 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080763 name: diffuse gastric cancer def: "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer "DO"] xref: GARD:10334 is_a: DOID:10534 ! stomach cancer created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080764 name: hereditary diffuse gastric cancer def: "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer "DO", https://rarediseases.info.nih.gov/diseases/10900/disease "DO", PMID:20591882 "DO"] synonym: "CDH1-RELATED DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME" EXACT [] synonym: "CTNNA1-RELATED CONDITION" BROAD [] synonym: "DGLBC" EXACT [] synonym: "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME" EXACT [] synonym: "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE" RELATED [] synonym: "familial diffuse gastric cancer" EXACT [] synonym: "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR" EXACT [] synonym: "HDGC" EXACT [] synonym: "hereditary diffuse gastric cancers" EXACT [] synonym: "LBC" EXACT [] xref: GARD:10900 xref: MIM:137215 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080763 ! diffuse gastric cancer created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080765 name: autosomal recessive intellectual developmental disorder 72 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. (DO)" [PMID:29302074 "DO", PMID:31564433 "DO"] synonym: "autosomal recessive mental retardation 72" EXACT [] synonym: "MRT72" EXACT [] xref: EFO:0010654 xref: MIM:618665 xref: MONDO:0032860 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080766 name: erythrokeratodermia variabilis et progressiva 6 def: "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)" [PMID:30528822 "DO"] synonym: "EKVP6" EXACT [] synonym: "TRPM4-RELATED CONDITION" BROAD [] synonym: "TRPM4-related disorder" BROAD [] xref: MIM:618531 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2019-07-16T08:12:53Z [Term] id: DOID:0080767 name: autoimmune myocarditis def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/ "DO"] xref: GARD:9519 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:820 ! myocarditis [Term] id: DOID:0080768 name: pyridoxine-dependent epilepsy def: "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)" [https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/ "DO", https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ "DO"] synonym: "EPD" EXACT [] synonym: "PDE" EXACT [] synonym: "pyridoxine dependency" EXACT [] synonym: "pyridoxine dependency with seizures" EXACT [] synonym: "pyridoxine-dependent seizures" EXACT [] synonym: "vitamin B6-dependent seizures" EXACT [] xref: GARD:9298 xref: MESH:C536254 xref: ORDO:3006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009338 ! early-onset epilepsy created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080769 name: early-onset vitamin B6-dependent epilepsy 1 def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK589231/ "DO", PMID:27912044 "DO", PMID:30668673 "DO"] synonym: "early-onset vitamin B6-dependent epilepsy" BROAD [] synonym: "EPEO1" EXACT [] synonym: "EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT" EXACT [] synonym: "EPVB6D" EXACT [] synonym: "PDE-PLPBP" EXACT [] synonym: "PLPBP-RELATED CONDITION" EXACT [] xref: MIM:617290 is_a: DOID:0080768 ! pyridoxine-dependent epilepsy created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080770 name: autosomal dominant beta thalassemia def: "A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. (DO)" [PMID:1971109 "DO"] synonym: "beta thalassemia, dominant inclusion body type" EXACT [] synonym: "congenital dyserythropoietic anemia, Irish or Weatherall type" EXACT [] synonym: "inclusion body beta-thalassemia" EXACT [] xref: MESH:C565834 xref: MIM:603902 xref: MONDO:0011381 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2019-03-15T13:48:03Z [Term] id: DOID:0080771 name: beta-thalassemia major def: "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO", PMID:12480689 "DO", PMID:19258591 "DO"] synonym: "beta+ thalassemia, silent allele" EXACT [] synonym: "beta-E-thalassemia" EXACT [] synonym: "beta-Knossos-thalassemia" EXACT [] synonym: "beta-plus-thalassemia" EXACT [] synonym: "BETA-PLUS-THALASSEMIA, DOMINANT" NARROW [] synonym: "Beta-Showa-Yakushiji Thalassemia" EXACT [] synonym: "beta-thal/Hb E" EXACT [] synonym: "beta-thalassemia hemoglobin E" EXACT [] synonym: "Cooley's Anemia" EXACT [] synonym: "Cooley anemia" EXACT [] synonym: "Double heterozygous for Hb E and beta thalassaemia" RELATED [] synonym: "HEMOGLOBIN BEOGRAD" RELATED [] synonym: "HEMOGLOBIN CAGLIARI" RELATED [] synonym: "HEMOGLOBIN COCODY" RELATED [] synonym: "HEMOGLOBIN D (CAMPERDOWN)" RELATED [] synonym: "HEMOGLOBIN DHOFAR" RELATED [] synonym: "HEMOGLOBIN DHONBURI" RELATED [] synonym: "Hemoglobin E" RELATED [] synonym: "HEMOGLOBIN KNOSSOS" RELATED [] synonym: "HEMOGLOBIN MALAY" RELATED [] synonym: "HEMOGLOBIN NEAPOLIS" RELATED [] synonym: "HEMOGLOBIN NORTH SHORE" RELATED [] synonym: "HEMOGLOBIN NORTH SHORE-CARACAS" RELATED [] synonym: "Hemoglobin Showa-Yakushiji" RELATED [] synonym: "HEMOGLOBIN TERRE HAUTE" RELATED [] synonym: "hemoglobin Yukuhashi" RELATED [] synonym: "thalassemia major" EXACT [] synonym: "thalassemia major (beta thalassemia major)" EXACT [] xref: MESH:C566065 xref: MIM:187550 xref: MONDO:0008545 xref: NCI:C129699 xref: ORDO:231214 is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080772 name: beta-thalassemia intermedia def: "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO"] synonym: "thalassemia intermedia" EXACT [] synonym: "thalassemia intermedias" EXACT [] xref: ORDO:231222 is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080773 name: delta beta-thalassemia def: "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)" [PMID:30706898 "DO", PMID:31444804 "DO"] synonym: "British HPFH" RELATED [] synonym: "DELTA/BETA THALESSEMIA" EXACT [] synonym: "DELTA-PLUS-THALASSEMIA" EXACT [] synonym: "FETAL HEMOGLOBIN, A-GAMMA TYPE, REDUCTION IN" NARROW [] synonym: "Greek HPFH" NARROW [] synonym: "HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN" NARROW [] synonym: "hereditary persistence of fetal hemoglobin, HB gene cluster-related" NARROW [] synonym: "hereditary persistence of hemoglobin F" NARROW [] synonym: "HPFH" NARROW [] synonym: "Sardinian HPFH" NARROW [] synonym: "THALASSEMIA, GAMMA-DELTA-BETA" RELATED [] xref: MESH:C562716 xref: MIM:141749 xref: NCI:C172823 xref: ORDO:231237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12241 ! beta thalassemia is_a: DOID:9008244 ! Delta-Thalassemia created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080774 name: thalassemia minor def: "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance "DO"] synonym: "beta thalassemia minor" EXACT [] is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2019-11-25T10:35:58Z [Term] id: DOID:0080775 name: complete androgen insensitivity syndrome def: "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. (DO)" [https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome "DO"] synonym: "complete androgen-insensitivity syndromes" EXACT [] xref: ICD10CM:E34.51 xref: ORDO:99429 is_a: DOID:4674 ! androgen insensitivity syndrome created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:0080776 name: partial androgen insensitivity syndrome def: "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. (DO)" [PMID:26303084 "DO"] synonym: "ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER" NARROW [] synonym: "ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER" EXACT [] synonym: "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1" EXACT [] synonym: "PAIS" EXACT [] synonym: "partial androgen insensitivities" EXACT [] synonym: "Partial Androgen Insensitivity" EXACT [] synonym: "Partial Androgen-Insensitivity Syndromes" EXACT [] synonym: "Reifenstein's Syndrome" EXACT [] synonym: "Reifensteins Syndrome" EXACT [] synonym: "Reifenstein syndrome" EXACT [] xref: GARD:5692 xref: MIM:312300 xref: MONDO:0010720 xref: NCI:C120192 xref: ORDO:90797 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4674 ! androgen insensitivity syndrome created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080777 name: lung sarcomatoid carcinoma def: "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540 "DO", PMID:28081478 "DO"] synonym: "pulmonary sarcomatoid carcinoma" EXACT [] synonym: "sarcomatoid carcinoma of the lung" EXACT [] xref: EFO:1000336 xref: NCI:C45540 is_a: DOID:3905 ! lung carcinoma created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080778 name: transient infantile liver failure def: "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/ "DO", PMID:19732863 "DO", PMID:21931168 "DO", PMID:27689697 "DO"] synonym: "LFIT" EXACT [] synonym: "transient recurrent infantile liver failure" NARROW [] synonym: "TRMU-RELATED CONDITION" BROAD [] xref: GARD:10593 xref: MIM:613070 xref: ORDO:217371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004590 ! Acute Liver Failure created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080779 name: plasmablastic lymphoma def: "A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/ "DO"] synonym: "Plasmablastic Diffuse Large B cell Lymphoma" EXACT [] synonym: "plasmablastic lymphomas" EXACT [] synonym: "plasmablasts diffuse large B cell lymphoma" EXACT [] xref: ICDO:9735/3 xref: MESH:D000069293 xref: MONDO:0017347 xref: NCI:C7224 xref: ORDO:289666 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0080780 name: acute erythroid leukemia def: "An acute myeloid leukemia that is characterized by a predominant immature erythroid population. (DO)" [https://en.wikipedia.org/wiki/Acute_erythroid_leukemia "DO"] xref: EFO:0000218 xref: ICDO:9840/3 xref: NCI:C8923 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0080781 name: benign exocrine pancreas neoplasm def: "An endocrine organ benign neoplasm arising from the exocrine pancreas. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613 "DO"] xref: NCI:C4613 is_a: DOID:0060089 ! endocrine organ benign neoplasm created_by: mtutaj creation_date: 2019-04-09T14:40:19Z [Term] id: DOID:0080782 name: mucinous pancreas adenocarcinoma def: "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.nature.com/articles/s41598-018-24540-7 "DO"] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4074 ! pancreatic adenocarcinoma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080784 name: urinary tract infection alt_id: MIM:603806 def: "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. (DO)" [https://medlineplus.gov/urinarytractinfections.html "DO", https://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html "DO", https://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447 "DO"] synonym: "urinary tract infections" EXACT [] synonym: "UTI" EXACT [] xref: EFO:0003103 xref: ICD10CM:N39.0 xref: MESH:D014552 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:18 ! urinary system disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080785 name: Brown-Vialetto-Van Laere syndrome 1 def: "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)" [PMID:20206331 "DO"] synonym: "BVVLS1" EXACT [] xref: MIM:211530 xref: NCI:C133724 is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080786 name: Brown-Vialetto-Van Laere syndrome 2 alt_id: DOID:0111612 def: "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC4970675/ "DO", PMID:20206331 "DO"] synonym: "autosomal recessive spinocerebellar ataxia 3" RELATED [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" BROAD [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" BROAD [] synonym: "autosomal recessive spinocerebellar ataxia type 3" RELATED [] synonym: "BVVLS2" EXACT [] synonym: "riboflavin transporter deficiency, type 2" EXACT [] synonym: "RTD2" EXACT [] synonym: "SCABD" BROAD [] synonym: "SCABD2" EXACT [] synonym: "SCAR3" RELATED [] synonym: "spinocerebellar ataxia with blindness and deafness 2" EXACT [] xref: GARD:9971 xref: MESH:C537309 xref: MIM:614707 xref: MONDO:0013867 xref: NCI:C183529 xref: ORDO:95433 is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080787 name: proximal symphalangism 1 def: "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)" [PMID:16353259 "DO"] synonym: "proximal symphalangism, 1A" EXACT [] synonym: "SYM1" EXACT [] synonym: "SYM1A" EXACT [] xref: MIM:185800 xref: MONDO:0020733 is_a: DOID:0050788 ! proximal symphalangism created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080788 name: proximal symphalangism 2 def: "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [PMID:16892395 "DO"] synonym: "proximal symphalangism, 1B" EXACT [] synonym: "SYM1B" EXACT [] xref: MIM:615298 xref: MONDO:0014125 is_a: DOID:0050788 ! proximal symphalangism created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080789 name: Treacher Collins syndrome 1 def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. (DO)" [PMID:15340364 "DO"] synonym: "TCOF1-RELATED CONDITION" EXACT [] synonym: "TCS1" EXACT [] xref: MIM:154500 xref: MONDO:0007944 is_a: DOID:2908 ! Treacher Collins syndrome created_by: rgd creation_date: 2017-10-18T12:30:34Z [Term] id: DOID:0080790 name: Treacher Collins syndrome 2 def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. (DO)" [PMID:25790162 "DO"] synonym: "POLR1D-RELATED CONDITION" EXACT [] synonym: "TCS2" EXACT [] xref: MIM:613717 xref: MONDO:0013385 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2908 ! Treacher Collins syndrome created_by: rgd creation_date: 2017-07-11T00:00:00Z [Term] id: DOID:0080791 name: Treacher Collins syndrome 3 alt_id: MIM:248390 def: "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)" [PMID:11013442 "DO"] synonym: "Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive" EXACT [] synonym: "POLR1C-RELATED CONDITION" BROAD [] synonym: "POLR1C-related disorder" BROAD [] synonym: "POLR1C-related disorders" BROAD [] synonym: "TCS3" EXACT [] synonym: "Treacher Collins syndrome, recessive" BROAD [] xref: MESH:C535707 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2908 ! Treacher Collins syndrome created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080792 name: Treacher Collins syndrome 4 def: "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. (DO)" [PMID:31649276 "DO"] synonym: "POLR1B-RELATED CONDITION" EXACT [] synonym: "TCS4" EXACT [] xref: MIM:618939 is_a: DOID:2908 ! Treacher Collins syndrome created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0080794 name: childhood acute megakaryoblastic leukemia def: "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. (DO)" [https://www.nature.com/articles/ng.3772 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/ "DO", PMID:28867167 "DO"] synonym: "acute megakaryoblastic leukemia without Down syndrome" EXACT [] synonym: "pediatric non-Down syndrome acute megakaryoblastic leukemia" EXACT [] xref: EFO:1001943 xref: MONDO:0850267 xref: NCI:C7972 is_a: DOID:7757 ! childhood leukemia is_a: DOID:8761 ! acute megakaryocytic leukemia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080795 name: acute basophilic leukemia def: "An acute myeloid leukemia that is characterized by primary differentiation to basophils. (DO)" [http://www.pathologyoutlines.com/topic/leukemiabasophil.html "DO", https://en.wikipedia.org/wiki/Acute_basophilic_leukemia "DO"] synonym: "acute basophilic leukemias" EXACT [] xref: EFO:0003029 xref: ICDO:9870/3 xref: MESH:D015471 xref: NCI:C3164 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2019-09-03T13:24:45Z [Term] id: DOID:0080796 name: core binding factor acute myeloid leukemia def: "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. (DO)" [PMID:26980726 "DO"] xref: EFO:1002001 xref: NCI:C122688 is_a: DOID:9119 ! acute myeloid leukemia created_by: rgd creation_date: 2017-03-07T00:00:00Z [Term] id: DOID:0080797 name: nasal type extranodal NK/T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. (DO)" [PMID:29602763 "DO"] synonym: "extranodal NK-T-cell lymphoma" EXACT [] synonym: "Extranodal NK T Cell Lymphoma, Nasal" EXACT [] synonym: "Extranodal NK T Cell Lymphoma, Nasal and Nasal Type" EXACT [] synonym: "Extranodal NK-T-Cell Lymphomas" EXACT [] xref: ICDO:9719/3 xref: MESH:D054391 xref: MONDO:0019472 xref: NCI:C4684 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:10811 ! nasal cavity cancer created_by: mtutaj creation_date: 2019-10-31T12:32:46Z [Term] id: DOID:0080798 name: myeloid leukemia associated with Down Syndrome def: "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. (DO)" [PMID:26910243 "DO", PMID:31606922 "DO"] synonym: "ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME" EXACT [] synonym: "megakaryoblastic leukemia of Down syndrome" EXACT [] xref: ICDO:9898/3 xref: MESH:C566025 xref: NCI:C43223 is_a: DOID:14250 ! Down syndrome is_a: DOID:225 ! syndrome is_a: DOID:8761 ! acute megakaryocytic leukemia created_by: mtutaj creation_date: 2019-03-27T08:09:55Z [Term] id: DOID:0080799 name: sinonasal undifferentiated carcinoma def: "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. (DO)" [PMID:30806835 "DO"] xref: EFO:1000527 xref: MESH:C537344 xref: NCI:C54294 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:4931 ! nasal cavity carcinoma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080800 name: salivary gland mucinous adenocarcinoma def: "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. (DO)" [PMID:26908552 "DO"] xref: NCI:C62193 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:3030 ! mucinous adenocarcinoma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080801 name: autosomal dominant craniometaphyseal dysplasia alt_id: MIM:123000 def: "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. (DO)" [PMID:9382103 "DO"] synonym: "CMDD" EXACT [] synonym: "CMDJ" EXACT [] synonym: "CRANIOMETADIAPHYSEAL DYSPLASIA WORMIAN BONE TYPE" EXACT [] synonym: "craniometaphyseal dysplasia, dominant type" EXACT [] synonym: "craniometaphyseal dysplasia, Jackson type" EXACT [] xref: MESH:C565145 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080033 ! craniometaphyseal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080802 name: autosomal recessive craniometaphyseal dysplasia alt_id: MIM:218400 def: "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. (DO)" [PMID:9382103 "DO"] synonym: "CMDR" EXACT [] synonym: "craniometaphyseal dysplasia, autosomal recessive type" EXACT [] xref: MESH:C536570 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080033 ! craniometaphyseal dysplasia is_a: DOID:2339 ! Crouzon syndrome created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080803 name: cranioectodermal dysplasia 1 def: "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. (DO)" [PMID:517478 "DO"] synonym: "CED1" EXACT [] synonym: "Levin syndrome I" EXACT [] xref: MIM:218330 xref: MONDO:0021093 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080804 name: cranioectodermal dysplasia 2 def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. (DO)" [PMID:21378380 "DO"] synonym: "CED2" EXACT [] synonym: "WDR35-related disorder" BROAD [] xref: MIM:613610 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080805 name: cranioectodermal dysplasia 3 def: "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [PMID:21378380 "DO"] synonym: "CED3" EXACT [] xref: MIM:614099 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080806 name: cranioectodermal dysplasia 4 def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [PMID:21378380 "DO"] synonym: "CED4" EXACT [] xref: MIM:614378 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080807 name: autosomal dominant craniodiaphyseal dysplasia alt_id: MIM:122860 def: "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. (DO)" [PMID:21221996 "DO"] synonym: "CDD" EXACT [] synonym: "SOST-RELATED CONDITION" BROAD [] xref: MESH:C567275 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080032 ! craniodiaphyseal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080808 name: mammary analogue secretory carcinoma def: "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. (DO)" [http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/ "DO"] xref: MESH:D000069295 is_a: DOID:0050904 ! salivary gland carcinoma created_by: mtutaj creation_date: 2019-09-03T14:22:06Z [Term] id: DOID:0080809 name: chronic asthma def: "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK7223/ "DO", https://www.nhlbi.nih.gov/health/asthma "DO"] synonym: "chronic obstructive asthma" EXACT [] synonym: "chronic obstructive asthma with acute exacerbation" EXACT [] synonym: "chronic obstructive asthma with status asthmaticus" EXACT [] xref: EFO:0009759 is_a: DOID:2841 ! asthma created_by: mtutaj creation_date: 2020-08-03T12:16:16Z [Term] id: DOID:0080810 name: acute asthma def: "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. (DO)" [PMID:27554811 "DO"] is_a: DOID:2841 ! asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080811 name: extrinsic asthma def: "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ "DO"] synonym: "atopic asthma" NARROW [] is_a: DOID:0080809 ! chronic asthma is_a: DOID:1205 ! allergic disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080812 name: intermittent asthma def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080813 name: persistent mild asthma def: "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080814 name: persistent moderate asthma def: "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080815 name: childhood-onset asthma def: "A chronic asthma that is characterized by first presentation in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ "DO"] synonym: "childhood asthma" EXACT [] xref: EFO:0004591 xref: MONDO:0005405 is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080816 name: adult-onset severe asthma def: "A chronic asthma that is characterized by first presentation in adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ "DO"] is_a: DOID:9009397 ! adult-onset asthma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080817 name: T2-high asthma def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. (DO)" [PMID:21281866 "DO"] synonym: "type 2 high endotype" EXACT [] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080818 name: T2-low asthma def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. (DO)" [PMID:21281866 "DO"] synonym: "type 2 low endotype" EXACT [] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2019-02-26T08:41:12Z [Term] id: DOID:0080819 name: environmental induced asthma def: "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK526018/ "DO"] synonym: "irritant asthma" EXACT [] xref: MONDO:0850285 is_a: DOID:9360 ! intrinsic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080820 name: occupational asthma def: "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. (DO)" [https://medlineplus.gov/ency/article/000110.htm "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma "DO"] synonym: "occupational asthmas" EXACT [] xref: MESH:D059366 is_a: DOID:0080819 ! environmental induced asthma is_a: DOID:9005463 ! Occupational Diseases created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080821 name: exercise-induced bronchoconstriction def: "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. (DO)" [PMID:29631730 "DO"] synonym: "Exercise-Induced Asthma" EXACT [] synonym: "exercise-induced asthmas" EXACT [] synonym: "Exercise Induced Bronchospasm" EXACT [] synonym: "exercise-induced bronchospasms" EXACT [] xref: MESH:D001250 is_a: DOID:9360 ! intrinsic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080822 name: aspirin-induced respiratory disease def: "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. (DO)" [PMID:11028656 "DO"] synonym: "AERD" EXACT [] synonym: "aspirin exacerbated respiratory disease" EXACT [] synonym: "Aspirin-Induced Asthma" EXACT [] synonym: "Aspirin Induced Asthmas" EXACT [] synonym: "aspirin-induced asthma, susceptibility to" RELATED [] synonym: "Aspirin Induced Asthma Syndrome" EXACT [] synonym: "Aspirin-Induced Asthma Syndromes" EXACT [] synonym: "aspirin-sensitive asthma" EXACT [] synonym: "NERD" RELATED [] synonym: "Non-steroidal anti-inflammatory drug-exacerbated respiratory disease" RELATED [] synonym: "NSAID-ERD" RELATED [] synonym: "NSAID-induced asthma" RELATED [] synonym: "NSAID-induced asthmas" RELATED [] xref: EFO:0004590 xref: MESH:D055963 is_a: DOID:0060500 ! drug allergy is_a: DOID:9360 ! intrinsic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080823 name: near-fatal asthma def: "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. (DO)" [PMID:27425166 "DO"] is_a: DOID:0080810 ! acute asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080824 name: persistent severe asthma def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080825 name: thunderstorm triggered asthma def: "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. (DO)" [PMID:29413334 "DO", PMID:29880151 "DO", PMID:31190900 "DO"] synonym: "thunderstorm asthma" EXACT [] synonym: "thunderstorm related asthma" EXACT [] is_a: DOID:9415 ! allergic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080826 name: nocturnal asthma def: "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/ "DO", PMID:17571537 "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080827 name: human cytomegalovirus infection def: "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5). (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459185/ "DO", PMID:25205255 "DO"] xref: ICD10CM:B25 xref: ICD9CM:078.5 xref: MONDO:0005132 xref: NCI:C53649 is_a: DOID:9006262 ! Cytomegalovirus Infections created_by: mtutaj creation_date: 2019-02-08T16:50:05Z [Term] id: DOID:0080828 name: VEXAS syndrome def: "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 "DO", https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome "DO"] synonym: "UBA1-RELATED DISORDER" BROAD [] synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome" EXACT [] synonym: "VEXAS" EXACT [] synonym: "VEXAS syndrome, somatic" NARROW [] xref: MIM:301054 xref: MONDO:0026777 xref: ORDO:596753 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2016-09-13T00:00:00Z [Term] id: DOID:0080829 name: low grade glioma alt_id: DOID:0060101 def: "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). (DO)" [http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/ "DO"] synonym: "benign glioma" EXACT [] xref: NCI:C132067 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:9006391 ! Spinal Cord Neoplasms is_a: DOID:9007502 ! Brain Neoplasms created_by: mtutaj creation_date: 2020-11-11T00:00:00Z [Term] id: DOID:0080830 name: childhood low-grade glioma def: "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/ "DO", PMID:23583981 "DO"] synonym: "pediatric low-grade glioma" EXACT [] is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2019-02-11T08:31:15Z [Term] id: DOID:0080831 name: subjective cognitive decline def: "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. (DO)" [PMID:24798886 "DO"] is_a: DOID:1561 ! cognitive disorder created_by: mtutaj creation_date: 2020-09-24T13:35:13Z [Term] id: DOID:0080832 name: mild cognitive impairment def: "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. (DO)" [PMID:29282327 "DO"] synonym: "mild cognitive impairments" EXACT [] synonym: "mild neurocognitive disorder" EXACT [] synonym: "mild neurocognitive disorders" EXACT [] xref: EFO:0007982 is_a: DOID:9002775 ! Cognitive Dysfunction created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0080833 name: laryngomalacia alt_id: MIM:150280 def: "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. (DO)" [https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia "DO", https://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia "DO"] synonym: "chondromalacia of larynx" EXACT [] synonym: "congenital laryngomalacia" EXACT [] synonym: "laryngomalacias" EXACT [] synonym: "larynx chondromalacia" EXACT [] synonym: "larynx chondromalacias" EXACT [] xref: GARD:6865 xref: ICD10CM:Q31.5 xref: MESH:D055092 xref: ORDO:2373 is_a: DOID:0080015 ! physical disorder is_a: DOID:1222 ! cartilage disease is_a: DOID:786 ! laryngeal disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0080834 name: acquired laryngomalacia def: "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. (DO)" [PMID:24615649 "DO"] is_a: DOID:786 ! laryngeal disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0080835 name: TORCH syndrome def: "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. (DO)" [https://rarediseases.org/rare-diseases/torch-syndrome/ "DO", https://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch "DO", PMID:32317443 "DO", PMID:32734340 "DO"] xref: GARD:7781 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2020-10-22T13:51:21Z [Term] id: DOID:0080836 name: growth hormone insensitivity syndrome with immune dysregulation 1 alt_id: MIM:245590 def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. (DO)" [PMID:16787985 "DO"] synonym: "GHISID1" EXACT [] synonym: "growth hormone insensitivity due to postreceptor defect" EXACT [] synonym: "growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 1" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" EXACT [] synonym: "growth hormone insensitivity with immunodeficiency" EXACT [] synonym: "Laron syndrome due to postreceptor defect" EXACT [] synonym: "Laron syndrome type 2" EXACT [] synonym: "Laron type dwarfism 2" EXACT [] xref: GARD:3924 xref: MESH:C537871 xref: ORDO:220465 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000309 ! Growth Hormone Insensitivity with Immune Dysregulation created_by: mtutaj creation_date: 2020-12-22T09:44:00Z [Term] id: DOID:0080837 name: growth hormone insensitivity syndrome with immune dysregulation 2 def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. (DO)" [PMID:29844444 "DO"] synonym: "GHISID2" EXACT [] synonym: "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 2" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [] xref: MIM:618985 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000309 ! Growth Hormone Insensitivity with Immune Dysregulation created_by: mtutaj creation_date: 2020-12-22T13:56:00Z [Term] id: DOID:0080839 name: X-linked warfarin sensitivity def: "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. (DO)" [PMID:29450643 "DO"] synonym: "COUMARIN SENSITIVITY, X-LINKED" EXACT [] xref: EFO:0021801 xref: MIM:301052 is_a: DOID:0080666 ! warfarin sensitivity created_by: mtutaj creation_date: 2020-07-07T07:31:13Z [Term] id: DOID:0080840 name: optic atrophy 12 def: "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)" [PMID:32219868 "DO"] synonym: "OPA12" EXACT [] xref: MIM:618977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies created_by: mtutaj creation_date: 2019-02-22T10:16:06Z [Term] id: DOID:0080841 name: pemphigoid def: "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. (DO)" [https://rarediseases.org/rare-diseases/pemphigus/ "DO"] synonym: "pemphigoids" EXACT [] xref: NCI:C34908 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:8502 ! bullous skin disease created_by: mtutaj creation_date: 2020-07-31T11:50:10Z [Term] id: DOID:0080842 name: intracranial meningioma def: "A meningioma that arises within the cranial cavity. (DO)" [PMID:17961033 "DO"] synonym: "intracranial meningiomas" EXACT [] xref: NCI:C4656 is_a: DOID:3565 ! meningioma created_by: mtutaj creation_date: 2020-12-22T14:19:00Z [Term] id: DOID:0080843 name: supratentorial meningioma def: "A meningioma that affects the supratentorial brain. (DO)" [PMID:26636386 "DO"] synonym: "supratentorial meningiomas" EXACT [] xref: NCI:C7048 is_a: DOID:3565 ! meningioma created_by: mtutaj creation_date: 2020-12-22T14:30:11Z [Term] id: DOID:0080844 name: omodysplasia 1 alt_id: MIM:258315 def: "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)" [PMID:17823719 "DO"] synonym: "GPC6-RELATED CONDITION" EXACT [] synonym: "OMOD1" EXACT [] synonym: "omodysplasia (Maroteaux)" EXACT [] synonym: "omodysplasia, autosomal recessive" EXACT [] synonym: "omodysplasia, autosomal recessive form" EXACT [] synonym: "omodysplasia, generalized form" EXACT [] synonym: "omodysplasia type 1" EXACT [] xref: MESH:C537746 xref: ORDO:93329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060288 ! omodysplasia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006502 ! Congenital Micromelic Dysplasia with Dislocation of Radius created_by: mtutaj creation_date: 2020-12-22T14:34:11Z [Term] id: DOID:0080845 name: omodysplasia 2 alt_id: MIM:164745 def: "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. (DO)" [PMID:25759469 "DO"] synonym: "FZD2-RELATED CONDITION" EXACT [] synonym: "OMOD2" EXACT [] synonym: "omodysplasia, autosomal dominant" EXACT [] xref: MESH:C567664 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060288 ! omodysplasia is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2020-12-22T14:37:11Z [Term] id: DOID:0080846 name: latent autoimmune diabetes in adults def: "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. (DO)" [PMID:29947172 "DO", PMID:30565440 "DO"] synonym: "Diabetes Mellitus Type 1.5" EXACT [] synonym: "LADA" EXACT [] synonym: "LADA, Latent Autoimmune Diabetes in Adults" EXACT [] synonym: "Latent Autoimmune Diabetes of Adults" EXACT [] synonym: "type 1.5 diabetes" EXACT [] xref: EFO:0009706 xref: MESH:D000071698 is_a: DOID:9744 ! type 1 diabetes mellitus created_by: mtutaj creation_date: 2020-12-22T14:40:11Z [Term] id: DOID:0080848 name: long COVID def: "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. (DO)" [https://www.bmj.com/content/371/bmj.m4470 "DO", https://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1 "DO", https://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1 "DO", https://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1 "DO", https://www.nature.com/articles/d41586-020-02796-2 "DO"] synonym: "chronic COVID-19" EXACT [] synonym: "LONG COVID-19" EXACT [] synonym: "PASC" EXACT [] synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT [] synonym: "POST-COVID-19 DISORDER" EXACT [] synonym: "post-COVID syndrome" EXACT [] is_a: DOID:0080599 ! Coronavirus infectious disease created_by: mtutaj creation_date: 2019-02-08T15:10:09Z [Term] id: DOID:0080849 name: ocular motor apraxia, Cogan type def: "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. (DO)" [https://en.wikipedia.org/wiki/Oculomotor_apraxia "DO", https://eyewiki.aao.org/Oculomotor_Apraxia "DO", https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/ "DO"] synonym: "Cogan's syndrome, type 2" EXACT [] synonym: "COMA" EXACT [] synonym: "congenital oculomotor apraxia" EXACT [] synonym: "congenital saccade initiation failure" EXACT [] synonym: "Ocular Motor Apraxia" EXACT [] synonym: "Oculomotor Apraxia, Cogan Type" EXACT [] xref: GARD:16 xref: MESH:C537423 xref: MIM:257550 xref: MONDO:0009764 xref: ORDO:1404 is_a: DOID:0060135 ! apraxia is_a: DOID:0060216 ! Cogan syndrome created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080850 name: pemphigus foliaceus def: "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. (DO)" [https://dermnetnz.org/topics/pemphigus-foliaceus/ "DO"] synonym: "pemphigus foliaceous" EXACT [] xref: EFO:0008601 xref: GARD:7354 xref: ICD10CM:L10.2 is_a: DOID:9182 ! pemphigus created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080851 name: IgA pemphigus def: "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK519063/ "DO"] xref: EFO:0008604 is_a: DOID:9182 ! pemphigus created_by: mtutaj creation_date: 2020-11-18T14:27:34Z [Term] id: DOID:0080852 name: paraneoplastic pemphigus def: "A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. (DO)" [https://dermnetnz.org/topics/paraneoplastic-pemphigus/ "DO", https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus "DO"] xref: EFO:0008602 xref: ICD10CM:L10.81 is_a: DOID:9182 ! pemphigus created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080854 name: anaplastic pleomorphic xanthoastrocytoma def: "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. (DO)" [https://www.hindawi.com/journals/crinm/2018/6428492/ "DO"] xref: MONDO:0850312 xref: NCI:C129327 is_a: DOID:3069 ! malignant astrocytoma created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080855 name: Parkinsonism def: "A movement disorder that is characterized by disturbances of balance, gait and posture. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/ "DO"] synonym: "autosomal dominant juvenile Parkinson disease" EXACT [] synonym: "Autosomal Dominant Juvenile Parkinsonism" EXACT [] synonym: "Autosomal Dominant Parkinsonism" EXACT [] synonym: "Autosomal Recessive Juvenile Parkinson Disease" EXACT [] synonym: "Autosomal Recessive Parkinsonism" EXACT [] synonym: "Autosomal Recesssive Juvenile Parkinsonism" EXACT [] synonym: "Chromosome 6 Linked Autosomal Recessive Parkinsonism" EXACT [] synonym: "EPDF" EXACT [] synonym: "Experimental Parkinson Disease" EXACT [] synonym: "experimental Parkinson diseases" EXACT [] synonym: "Experimental Parkinsonism" EXACT [] synonym: "Familial Juvenile Parkinsonism" EXACT [] synonym: "Familial Parkinson Disease, Autosomal Recessive" EXACT [] synonym: "Juvenile Parkinson Disease" EXACT [] synonym: "Juvenile Parkinsonism" EXACT [] synonym: "Juvenile Parkinsonism, Autosomal Recessive" EXACT [] synonym: "MPTP Induced Experimental Parkinsonism" EXACT [] synonym: "parkinsonian diseases" EXACT [] synonym: "Parkinsonian disorder" EXACT [] synonym: "Parkinsonian Disorders" EXACT [] synonym: "Parkinsonian Syndrome" EXACT [] synonym: "parkinsonian syndromes" EXACT [] synonym: "PDJ" EXACT [] synonym: "Ramsay Hunt paralysis syndrome" EXACT [] xref: MESH:D020734 is_a: DOID:480 ! movement disease is_a: DOID:679 ! basal ganglia disease created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080856 name: vascular Parkinsonism def: "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/ "DO"] is_a: DOID:0080855 ! Parkinsonism created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080857 name: primary ovarian insufficiency 1 alt_id: DOID:9005363 def: "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). (DO)" [PMID:27861765 "DO"] synonym: "FMR1-related primary ovarian insufficiency" EXACT [] synonym: "fragile X-associated primary ovarian insufficiency" EXACT [] synonym: "Fragile X Premature Ovarian Failure" EXACT [] synonym: "POF1" EXACT [] synonym: "premature ovarian failure 1" EXACT [] xref: GARD:4480 xref: MIM:311360 xref: MONDO:0010706 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080858 name: primary ovarian insufficiency 2A def: "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. (DO)" [PMID:9497258 "DO"] synonym: "DIAPH2-RELATED CONDITION" EXACT [] synonym: "POF2A" EXACT [] synonym: "premature ovarian failure 2A" EXACT [] xref: MESH:C564498 xref: MIM:300511 xref: MONDO:0010350 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080859 name: primary ovarian insufficiency 2B def: "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. (DO)" [PMID:16773570 "DO"] synonym: "POF1B-related condition" EXACT [] synonym: "POF2B" EXACT [] synonym: "premature ovarian failure 2B" EXACT [] xref: MESH:C564476 xref: MIM:300604 xref: MONDO:0010373 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080860 name: primary ovarian insufficiency 3 def: "A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. (DO)" [PMID:12149404 "DO"] synonym: "FOXL2-related condition" BROAD [] synonym: "POF3" EXACT [] synonym: "premature ovarian failure 3" EXACT [] xref: MESH:C563816 xref: MIM:608996 xref: MONDO:0012169 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080861 name: primary ovarian insufficiency 4 def: "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. (DO)" [PMID:12836721 "DO"] is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2012-05-15T00:00:00Z [Term] id: DOID:0080862 name: primary ovarian insufficiency 5 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. (DO)" [PMID:17701902 "DO"] synonym: "NOBOX-RELATED CONDITION" EXACT [] synonym: "POF5" EXACT [] synonym: "premature ovarian failure 5" EXACT [] xref: MESH:C566921 xref: MIM:611548 xref: MONDO:0012689 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2019-02-12T10:06:58Z [Term] id: DOID:0080863 name: primary ovarian insufficiency 6 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. (DO)" [PMID:18499083 "DO"] synonym: "FIGLA-RELATED CONDITION" EXACT [] synonym: "POF6" EXACT [] synonym: "premature ovarian failure 6" EXACT [] xref: MESH:C567351 xref: MIM:612310 xref: MONDO:0012861 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080864 name: primary ovarian insufficiency 7 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)" [PMID:26523528 "DO"] synonym: "ADRENAL INSUFFICIENCY, NR5A1-RELATED" NARROW [] synonym: "POF7" EXACT [] synonym: "premature ovarian failure 7" EXACT [] xref: MESH:C567838 xref: MIM:612964 xref: MONDO:0013065 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080865 name: primary ovarian insufficiency 8 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)" [PMID:24597867 "DO"] synonym: "POF8" EXACT [] synonym: "premature ovarian failure 8" EXACT [] synonym: "primary ovarian failure 8" EXACT [] synonym: "STAG3-related condition" BROAD [] xref: MIM:615723 xref: MONDO:0014321 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080866 name: primary ovarian insufficiency 9 def: "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. (DO)" [PMID:24597873 "DO"] synonym: "HFM1-RELATED CONDITION" EXACT [] synonym: "POF9" EXACT [] synonym: "premature ovarian failure 9" EXACT [] xref: MIM:615724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080867 name: primary ovarian insufficiency 10 def: "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. (DO)" [PMID:25873734 "DO"] synonym: "MCM8-RELATED CONDITION" EXACT [] synonym: "POF10" EXACT [] synonym: "premature ovarian failure 10" EXACT [] xref: MIM:612885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: rgd creation_date: 2017-03-01T00:00:00Z [Term] id: DOID:0080868 name: primary ovarian insufficiency 11 def: "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [PMID:26218421 "DO"] synonym: "POF11" EXACT [] synonym: "premature ovarian failure 11" EXACT [] xref: MIM:616946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080869 name: primary ovarian insufficiency 12 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. (DO)" [PMID:25062452 "DO"] synonym: "POF12" EXACT [] synonym: "premature ovarian failure 12" EXACT [] xref: MIM:616947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2019-02-12T09:55:06Z [Term] id: DOID:0080870 name: primary ovarian insufficiency 13 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. (DO)" [PMID:28175301 "DO"] synonym: "MSH5-RELATED CONDITION" BROAD [] synonym: "POF13" EXACT [] synonym: "premature ovarian failure 13" EXACT [] xref: MIM:617442 xref: MONDO:0044317 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080871 name: primary ovarian insufficiency 14 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. (DO)" [PMID:29044499 "DO"] synonym: "GDF9-related condition" BROAD [] synonym: "POF14" EXACT [] synonym: "premature ovarian failure 14" EXACT [] xref: MIM:618014 xref: MONDO:0044777 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080872 name: primary ovarian insufficiency 15 def: "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. (DO)" [PMID:29231814 "DO"] synonym: "FANCM-RELATED CONDITION" BROAD [] synonym: "POF15" EXACT [] synonym: "premature ovarian failure 15" EXACT [] xref: MIM:618096 xref: MONDO:0054862 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080873 name: primary ovarian insufficiency 16 def: "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. (DO)" [PMID:30010909 "DO"] synonym: "genetic non-acquired premature ovarian failure" EXACT [] synonym: "POF16" EXACT [] synonym: "premature ovarian failure 16" EXACT [] xref: EFO:0010646 xref: MIM:618723 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080874 name: primary ovarian insufficiency 17 def: "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)" [PMID:30489636 "DO"] synonym: "POF17" EXACT [] synonym: "premature ovarian failure 17" EXACT [] xref: MIM:619146 is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080875 name: IDH-mutant anaplastic astrocytoma def: "An anaplastic astrocytoma carrying IDH mutations. (DO)" [https://www.pathologyoutlines.com/topic/anaastroidhmutant.html "DO"] synonym: "IDH-MUTANT ASTROCYTOMA" EXACT [] xref: NCI:C185167 is_a: DOID:3078 ! anaplastic astrocytoma created_by: mtutaj creation_date: 2021-02-24T20:16:11Z [Term] id: DOID:0080876 name: IDH-wildtype anaplastic astrocytoma def: "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. (DO)" [https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html "DO"] xref: MONDO:0850333 xref: NCI:C129291 is_a: DOID:3078 ! anaplastic astrocytoma created_by: mtutaj creation_date: 2019-11-21T12:09:18Z [Term] id: DOID:0080877 name: astrocytoma, IDH-mutant, grade 4 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. (DO)" [PMID:33692446 "DO"] xref: ICDO:9445/3 xref: NCI:C167335 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma created_by: mtutaj creation_date: 2020-06-26T10:54:07Z [Term] id: DOID:0080878 name: IDH-wildtype glioblastoma def: "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. (DO)" [https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html "DO"] xref: MONDO:0850335 xref: NCI:C39750 is_a: DOID:3068 ! glioblastoma created_by: slaulede creation_date: 2019-01-14T14:12:02Z [Term] id: DOID:0080879 name: histone mutated tumor def: "A high grade glioma that has_material_basis_in mutations in the genes encoding histones. (DO)" [https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143 "DO"] synonym: "histone mutated tumour" EXACT [] is_a: DOID:3070 ! high grade glioma created_by: mtutaj creation_date: 2021-02-24T20:35:11Z [Term] id: DOID:0080880 name: diffuse glioma, H3 G34 mutant def: "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. (DO)" [PMID:30358620 "DO"] xref: ICDO:9385/3 xref: NCI:C185371 is_a: DOID:0080879 ! histone mutated tumor created_by: mtutaj creation_date: 2021-02-24T20:39:11Z [Term] id: DOID:0080881 name: pleomorphic xanthoastrocytoma BRAF mutant def: "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. (DO)" [https://www.futuremedicine.com/doi/10.2217/cns-2019-0009 "DO"] is_a: DOID:0080854 ! anaplastic pleomorphic xanthoastrocytoma created_by: mtutaj creation_date: 2019-06-11T11:14:07Z [Term] id: DOID:0080882 name: IDH-mutant and 1p/19q-codeleted oligodendroglioma def: "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). (DO)" [https://www.nature.com/articles/s41598-020-68733-5 "DO", https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"] synonym: "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted" EXACT [] xref: MONDO:0859592 xref: NCI:C129318 xref: NCI:C129321 is_a: DOID:7154 ! anaplastic oligodendroglioma created_by: gthayman creation_date: 2019-04-10T05:26:22Z [Term] id: DOID:0080883 name: vitamin D-dependent rickets def: "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. (DO)" [https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets "DO"] xref: ICD9CM:268.0 xref: MONDO:0024299 is_a: DOID:0080006 ! bone development disease is_a: DOID:10609 ! rickets created_by: mtutaj creation_date: 2021-02-24T20:50:11Z [Term] id: DOID:0080884 name: vitamin D-dependent rickets type 2A alt_id: MIM:277440 alt_id: OMIA:001431 def: "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO", PMID:27705794 "DO"] synonym: "generalized resistance to 1,25-dihydroxyvitamin D" EXACT [] synonym: "HVDRR" EXACT [] synonym: "HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS" EXACT [] synonym: "PDDR IIA" EXACT [] synonym: "Pseudovitamin D-Deficiency, Type IIA" EXACT [] synonym: "rickets-alopecia syndrome" EXACT [] synonym: "VDDR2A" EXACT [] synonym: "VDR-RELATED CONDITION" EXACT [] synonym: "vitamin D-deficiency rickets, type II" EXACT [] synonym: "vitamin D-dependent rickets type 2A, with or without alopecia" EXACT [] synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" EXACT [] xref: MESH:C562794 xref: ORDO:93160 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-02-24T20:56:11Z [Term] id: DOID:0080885 name: vitamin D-dependent rickets type 2B alt_id: MIM:600785 def: "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"] synonym: "VDDR2B" EXACT [] synonym: "Vitamin D-Dependent Rickets, Type 2B, with Normal Vitamin D Receptor" EXACT [] xref: MESH:C567571 is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-01-04T17:21:15Z [Term] id: DOID:0080886 name: vitamin D-dependent rickets type 1A def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO", PMID:27705794 "DO"] synonym: "1-alpha, 25-hydroxyvitamin D3 deficiency, selective" EXACT [] synonym: "1-alpha-hydroxylase deficiency" EXACT [] synonym: "25-Hydroxycholecalciferol-1-Hydroxylase Deficiency" EXACT [] synonym: "CYP27B1-RELATED CONDITION" EXACT [] synonym: "PDDR1A" EXACT [] synonym: "PDDR IA" EXACT [] synonym: "Pseudovitamin D-Deficiency Rickets, Type IA" EXACT [] synonym: "VDD1" EXACT [] synonym: "VDDR1A" EXACT [] synonym: "vitamin D-deficiency rickets, type I" RELATED [] synonym: "vitamin D dependency, type 1" EXACT [] synonym: "vitamin D hydroxylation-deficient rickets, type 1A" EXACT [] xref: MESH:C562688 xref: MIM:264700 xref: MONDO:0020723 xref: OMIA:000837 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-02-24T21:11:11Z [Term] id: DOID:0080887 name: vitamin D-dependent rickets type 1B alt_id: MIM:600081 def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO", PMID:26365513 "DO"] synonym: "CYP2R1-RELATED CONDITION" EXACT [] synonym: "pseudovitamin D3 deficiency rickets due to 25-hydroxylase deficiency" EXACT [] synonym: "selective 25-hydroxyvitamin D3 deficiency" EXACT [] synonym: "VDDR1B" EXACT [] synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [] xref: MESH:C564005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-02-24T21:15:11Z [Term] id: DOID:0080888 name: spinal ependymoma, MYCN-amplified def: "A spinal cord ependymoma that is characterized by MYCN amplification. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/ "DO"] synonym: "Spinal Cord Ependymoma, MYCN Amplified" EXACT [] synonym: "spinal ependymoma, MYCN" EXACT [] xref: NCI:C186494 is_a: DOID:5503 ! spinal cord ependymoma created_by: mtutaj creation_date: 2019-12-30T09:36:31Z [Term] id: DOID:0080889 name: posterior fossa ependymoma def: "A high grade ependymoma that is located within the posterior fossa. (DO)" [PMID:26351223 "DO", PMID:32502305 "DO"] is_a: DOID:5074 ! high grade ependymoma created_by: mtutaj creation_date: 2021-02-24T21:21:11Z [Term] id: DOID:0080890 name: supratentorial ependymoma def: "A high grade ependymoma that is located within the supratentorial brain. (DO)" [PMID:27858204 "DO"] xref: ICDO:9391/3 is_a: DOID:5074 ! high grade ependymoma created_by: mtutaj creation_date: 2021-02-24T21:24:11Z [Term] id: DOID:0080891 name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma def: "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. (DO)" [https://www.nature.com/articles/s41467-019-11884-5 "DO"] is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2021-02-24T21:28:11Z [Term] id: DOID:0080892 name: RELA fusion-positive ependymoma def: "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. (DO)" [https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html "DO"] synonym: "C11orf95 fusion-positive supratentorial ependymoma" EXACT [] synonym: "supratentorial C11ORF95-RELA fused ependymoma" EXACT [] xref: ICDO:9396/3 xref: MONDO:0033980 xref: NCI:C129351 xref: ORDO:530792 is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2021-02-24T21:33:11Z [Term] id: DOID:0080893 name: Bainbridge-Ropers syndrome def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK563693/ "DO", PMID:23383720 "DO", PMID:23672984 "DO", PMID:27901041 "DO", PMID:32132929 "DO"] synonym: "ASXL3-RELATED CONDITION" EXACT [] synonym: "ASXL3-related disorder" EXACT [] synonym: "BRPS" EXACT [] xref: GARD:13259 xref: MIM:615485 xref: ORDO:352577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008514 ! Psychomotor Disorders created_by: rgd creation_date: 2017-10-19T14:54:04Z [Term] id: DOID:0080894 name: lipofibromatosis-like neural tumor def: "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. (DO)" [https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/ "DO", PMID:27259011 "DO"] is_a: DOID:201 ! connective tissue cancer created_by: gthayman creation_date: 2019-04-19T13:25:27Z [Term] id: DOID:0080895 name: rapidly involuting congenital hemangioma def: "A hemangioma that is characterized by complete regression. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/ "DO"] xref: NCI:C172207 xref: ORDO:141184 is_a: DOID:0080015 ! physical disorder is_a: DOID:255 ! hemangioma created_by: slaulede creation_date: 2019-01-16T15:52:05Z [Term] id: DOID:0080896 name: pericytoma with t(7;12) def: "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. (DO)" [http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html "DO", PMID:30085941 "DO"] is_a: DOID:3316 ! perivascular tumor created_by: mtutaj creation_date: 2020-02-27T13:41:52Z [Term] id: DOID:0080897 name: solitary fibrous tumor/hemangiopericytoma def: "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. (DO)" [https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml "DO", https://www.sciencedirect.com/science/article/pii/S221475191830183X "DO", PMID:29521591 "DO"] xref: ICDO:8815/1 xref: ORDO:2126 is_a: DOID:264 ! hemangiopericytoma is_a: DOID:9002958 ! Solitary Fibrous Tumors created_by: mtutaj creation_date: 2021-02-24T22:01:11Z [Term] id: DOID:0080898 name: cerebellofaciodental syndrome def: "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. (DO)" [PMID:27748960 "DO", PMID:32896090 "DO"] synonym: "BRF1-RELATED CONDITION" EXACT [] synonym: "cerebellar-facial-dental syndrome" EXACT [] synonym: "CFDS" EXACT [] xref: EFO:0009030 xref: MIM:616202 xref: ORDO:444072 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:1091 ! tooth disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-02-24T22:05:11Z [Term] id: DOID:0080899 name: lung pleomorphic carcinoma def: "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. (DO)" [PMID:31355240 "DO"] xref: NCI:C45542 is_a: DOID:3905 ! lung carcinoma is_a: DOID:5662 ! pleomorphic carcinoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080900 name: oral rhabdomyosarcoma def: "A rhabdomyosarcoma located in the oral cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/ "DO"] is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:8618 ! oral cavity cancer created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080901 name: bladder sarcomatoid transitional cell carcinoma def: "A sarcomatoid transitional cell carcinoma that is located_in the bladder. (DO)" [PMID:30287139 "DO"] is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:4014 ! sarcomatoid transitional cell carcinoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080902 name: bladder small cell carcinoma def: "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [PMID:29763719 "DO"] is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:4007 ! bladder carcinoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080903 name: embryonal tumor with multilayered rosettes, C19MC-altered alt_id: DOID:4794 def: "An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). (DO)" [https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ "DO"] synonym: "ependymoblastoma" EXACT [] synonym: "ependymoblastomas" EXACT [] xref: NCI:C4915 is_a: DOID:0081286 ! embryonal tumor with multilayered rosettes created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080904 name: astroblastoma, MN1-altered def: "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/ "DO", PMID:31111274 "DO"] synonym: "CNS high-grade neuroepithelial tumors with MN1 alteration" EXACT [] xref: MONDO:0850349 is_a: DOID:7305 ! astroblastoma created_by: mtutaj creation_date: 2019-12-30T09:31:57Z [Term] id: DOID:0080905 name: central nervous system neuroblastoma def: "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. (DO)" [PMID:29520437 "DO"] is_a: DOID:4439 ! central nervous system germ cell tumor is_a: DOID:769 ! neuroblastoma created_by: mtutaj creation_date: 2020-10-27T16:34:12Z [Term] id: DOID:0080906 name: CNS neuroblastoma with FOXR2 activation def: "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. (DO)" [https://link.springer.com/article/10.1007%2Fs10014-020-00370-2 "DO", https://www.ncbi.nlm.nih.gov/articles/PMC7350623/ "DO"] synonym: "central nervous system neuroblastoma with FOXR2 activation" EXACT [] synonym: "CNS NB-FOXR2" EXACT [] synonym: "CNS neuroblastoma, FOXR2-activated" EXACT [] xref: ICDO:9500/3 xref: MONDO:0859597 is_a: DOID:0080905 ! central nervous system neuroblastoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080907 name: Cockayne syndrome A alt_id: DOID:9007866 def: "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)" [https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO"] synonym: "Cockayne syndrome, classical" EXACT [] synonym: "Cockayne syndrome type 1" EXACT [] synonym: "Cockayne syndrome type A" EXACT [] synonym: "CSA" EXACT [] synonym: "ERCC8-related condition" BROAD [] synonym: "group A Cockayne syndrome" EXACT [] synonym: "Type I Cockayne Syndrome" EXACT [] xref: GARD:1415 xref: MIM:216400 xref: MONDO:0019569 xref: NCI:C135725 is_a: DOID:2962 ! Cockayne syndrome created_by: mtutaj creation_date: 2021-04-29T19:14:01Z [Term] id: DOID:0080908 name: Cockayne syndrome B alt_id: DOID:9007951 def: "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"] synonym: "Cockayne syndrome 2" EXACT [] synonym: "Cockayne syndrome type B" EXACT [] synonym: "Cockayne syndrome type II" EXACT [] synonym: "congenital Cockayne syndrome" RELATED [] synonym: "CSB" EXACT [] synonym: "group B Cockayne syndrome" EXACT [] xref: GARD:1420 xref: MIM:133540 xref: NCI:C135726 is_a: DOID:2962 ! Cockayne syndrome created_by: mtutaj creation_date: 2021-04-29T19:16:48Z [Term] id: DOID:0080909 name: castration-resistant prostate carcinoma alt_id: DOID:9004674 def: "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. (DO)" [PMID:30324351 "DO"] synonym: "Androgen Independent Prostatic Cancer" EXACT [] synonym: "androgen-independent prostatic cancers" EXACT [] synonym: "Androgen-Independent Prostatic Neoplasm" EXACT [] synonym: "Androgen Independent Prostatic Neoplasms" EXACT [] synonym: "Androgen Insensitive Prostatic Cancer" EXACT [] synonym: "Androgen-Insensitive Prostatic Cancers" EXACT [] synonym: "Androgen-Insensitive Prostatic Neoplasm" EXACT [] synonym: "Androgen Insensitive Prostatic Neoplasms" EXACT [] synonym: "Androgen Resistant Prostatic Cancer" EXACT [] synonym: "Androgen-Resistant Prostatic Cancers" EXACT [] synonym: "Androgen-Resistant Prostatic Neoplasm" EXACT [] synonym: "Androgen Resistant Prostatic Neoplasms" EXACT [] synonym: "Castration Resistant Prostatic Cancer" EXACT [] synonym: "Castration-Resistant Prostatic Cancers" EXACT [] synonym: "Castration-Resistant Prostatic Neoplasm" EXACT [] synonym: "Castration-Resistant Prostatic Neoplasms" EXACT [] synonym: "Hormone Refractory Prostatic Cancer" EXACT [] synonym: "hormone refractory prostatic neoplasms" EXACT [] xref: MESH:D064129 xref: MONDO:0019570 xref: NCI:C130234 is_a: DOID:10286 ! prostate carcinoma created_by: mtutaj creation_date: 2021-04-29T19:18:28Z [Term] id: DOID:0080910 name: cerebrooculofacioskeletal syndrome alt_id: DOID:9007995 def: "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"] synonym: "CEREBRO-OCULO-FACIO-SKELETAL SYNDROME" EXACT [] synonym: "COFS" EXACT [] synonym: "COFS syndrome" EXACT [] xref: GARD:6027 xref: MIM:PS214150 xref: NCI:C3817 is_a: DOID:2962 ! Cockayne syndrome created_by: mtutaj creation_date: 2021-04-29T19:21:48Z [Term] id: DOID:0080911 name: cerebrooculofacioskeletal syndrome 1 alt_id: DOID:9003294 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [PMID:20456449 "DO"] synonym: "COFS1" EXACT [] synonym: "Pena-Shokeir syndrome, type II" EXACT [] xref: MESH:C562434 xref: MIM:214150 xref: MONDO:0008955 xref: NCI:C173085 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome created_by: mtutaj creation_date: 2021-04-29T19:24:27Z [Term] id: DOID:0080912 name: cerebrooculofacioskeletal syndrome 2 alt_id: DOID:9007127 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. (DO)" [PMID:11443545 "DO"] synonym: "COFS2" EXACT [] xref: MESH:C565185 xref: MIM:610756 xref: MONDO:0012553 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-04-29T19:25:42Z [Term] id: DOID:0080913 name: cerebrooculofacioskeletal syndrome 3 alt_id: DOID:9001554 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)" [PMID:24700531 "DO"] synonym: "COFS3" EXACT [] synonym: "ERCC5-RELATED DISORDER" BROAD [] xref: MESH:C565035 xref: MIM:616570 xref: MONDO:0014696 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome created_by: mtutaj creation_date: 2021-04-29T19:25:50Z [Term] id: DOID:0080914 name: cerebrooculofacioskeletal syndrome 4 alt_id: DOID:9003501 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. (DO)" [PMID:23623389 "DO"] synonym: "COFS4" EXACT [] synonym: "ERCC1-related condition" EXACT [] xref: MESH:C565184 xref: MIM:610758 xref: MONDO:0012554 xref: NCI:C173104 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-04-29T19:25:58Z [Term] id: DOID:0080915 name: histiocytic sarcoma alt_id: DOID:9006442 def: "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/ "DO"] synonym: "histiocytic medullary reticulosis" EXACT [] synonym: "histiocytic sarcomas" EXACT [] synonym: "malignant histiocytosis" EXACT [] synonym: "malignant midline reticulosis" EXACT [] synonym: "malignant reticulosis" EXACT [] synonym: "Stewart's granuloma" EXACT [] synonym: "true histiocytic lymphoma" EXACT [] synonym: "true malignant histiocytosis" EXACT [] xref: EFO:1001499 xref: ICDO:9755/3 xref: MESH:D054747 xref: MONDO:0019479 xref: NCI:C128125 xref: NCI:C21886 xref: NCI:C27349 xref: NCI:C60419 xref: NCI:C7202 is_a: DOID:2570 ! malignant histiocytic disease is_a: DOID:5621 ! histiocytic and dendritic cell cancer created_by: mtutaj creation_date: 2021-04-29T19:29:08Z [Term] id: DOID:0080916 name: erythroleukemia alt_id: DOID:9002149 def: "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/ "DO"] synonym: "Acute Erythroblastic Leukemia" EXACT [] synonym: "acute erythroblastic leukemias" EXACT [] synonym: "acute myeloid leukemia, M6" EXACT [] synonym: "Di Guglielmo's Disease" EXACT [] synonym: "Di Guglielmo Disease" EXACT [] synonym: "Di Guglielmos Disease" EXACT [] synonym: "Erythremic Myeloses" EXACT [] synonym: "Erythremic Myelosis" EXACT [] synonym: "Erythroleukemias" EXACT [] xref: EFO:1001257 xref: EFO:1001955 xref: MESH:D004915 xref: NCI:C135722 xref: NCI:C7152 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:0080780 ! acute erythroid leukemia created_by: mtutaj creation_date: 2021-04-29T19:33:07Z [Term] id: DOID:0080917 name: sporadic amyotrophic lateral sclerosis def: "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. (DO)" [https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html "DO"] xref: EFO:0001357 xref: MONDO:0005145 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2021-04-29T19:39:22Z [Term] id: DOID:0080918 name: polymicrogyria alt_id: DOID:9004861 def: "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO", PMID:10489031 "DO"] synonym: "Cerebral Micropolygyria" EXACT [] synonym: "Cerebral Micropolygyrias" EXACT [] synonym: "Cerebral Polymicrogyria" EXACT [] synonym: "Cerebral Polymicrogyrias" EXACT [] synonym: "Micropolygyria" EXACT [] synonym: "Micropolygyrias" EXACT [] synonym: "Polymicrogyrias" EXACT [] xref: MESH:D065706 xref: NCI:C116936 is_a: DOID:9001684 ! Malformations of Cortical Development, Group III created_by: mtutaj creation_date: 2021-04-29T19:40:47Z [Term] id: DOID:0080919 name: unilateral focal polymicrogyria def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"] xref: ORDO:268947 is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:44:13Z [Term] id: DOID:0080920 name: bilateral generalized polymicrogyria def: "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"] is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:45:47Z [Term] id: DOID:0080921 name: bilateral frontal polymicrogyria def: "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. (DO)" [https://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria "DO", https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria "DO"] xref: GARD:10783 xref: ORDO:208444 is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:47:22Z [Term] id: DOID:0080922 name: bilateral frontoparietal polymicrogyria alt_id: DOID:9002736 def: "A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. (DO)" [PMID:34863467 "DO"] synonym: "ADGRG1-related condition" BROAD [] synonym: "BFPP" EXACT [] synonym: "CDCBM14A" EXACT [] synonym: "cerebellar ataxia with neuronal migration defect" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 14A" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 14A, (bilateral frontoparietal)" EXACT [] xref: GARD:10784 xref: MESH:C564652 xref: MIM:606854 xref: MONDO:0011738 xref: NCI:C148367 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080918 ! polymicrogyria is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2021-04-29T19:48:25Z [Term] id: DOID:0080923 name: bilateral parasagittal parieto-occipital polymicrogyria alt_id: DOID:9004690 alt_id: MIM:612691 def: "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. (DO)" [PMID:10690985 "DO", PMID:9005867 "DO"] synonym: "BTOP" EXACT [] synonym: "Polymicrogyria, Bilateral Occipital" EXACT [] synonym: "POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL" EXACT [] xref: GARD:10785 xref: MESH:C567201 xref: ORDO:208441 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:51:05Z [Term] id: DOID:0080924 name: complex cortical dysplasia with other brain malformations 14B alt_id: DOID:9003520 def: "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. (DO)" [PMID:24531968 "DO"] synonym: "ADGRG1-RELATED CONDITION" BROAD [] synonym: "bilateral perisylvian polymicrogyria" EXACT [] synonym: "bilateral perisylvian polymicrogyria with autosomal recessive inheritance" NARROW [] synonym: "BPP" EXACT [] synonym: "BPPR" NARROW [] synonym: "BPPX" EXACT [] synonym: "CBPS" EXACT [] synonym: "CDCBM14B" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 14B, (bilateral perisylvian)" EXACT [] synonym: "Congenital bilateral perisylvian syndrome" EXACT [] synonym: "Perisylvian Syndrome" EXACT [] synonym: "PMGX" EXACT [] synonym: "POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE" NARROW [] synonym: "POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED" EXACT [] xref: GARD:6011 xref: MESH:C536658 xref: MIM:300388 xref: MIM:615752 xref: ORDO:98889 is_a: DOID:0080918 ! polymicrogyria is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2021-04-29T19:56:42Z [Term] id: DOID:0080925 name: cytochrome P450 oxidoreductase deficiency def: "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1419/ "DO"] synonym: "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" EXACT [] synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" EXACT [] synonym: "DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY" EXACT [] synonym: "POR-RELATED DISORDER" BROAD [] xref: GARD:12664 xref: MIM:613571 xref: NCI:C131302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1701 ! steroid inherited metabolic disorder created_by: mtutaj creation_date: 2021-04-29T20:01:27Z [Term] id: DOID:0080926 name: 7q11.23 duplication syndrome alt_id: DOID:9002292 alt_id: MIM:609757 def: "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. (DO)" [https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK327268/ "DO"] synonym: "7q11.23 microduplication syndrome" EXACT [] synonym: "chromosome 7q11.23 duplication syndrome" EXACT [] synonym: "chromosome 7q11.23 triplication syndrome" NARROW [] synonym: "Somerville-Van der Aa syndrome" NARROW [] synonym: "WBS duplication syndrome" EXACT [] synonym: "WBS triplication syndrome" NARROW [] synonym: "William-Beuren region duplication syndrome" EXACT [] synonym: "Williams-Beuren Region Duplication Syndrome" EXACT [] xref: GARD:12076 xref: MESH:C565723 xref: NCI:C165597 xref: ORDO:96121 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1928 ! Williams-Beuren syndrome created_by: mtutaj creation_date: 2021-04-29T20:07:19Z [Term] id: DOID:0080927 name: apolipoprotein A-IV associated amyloidosis def: "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. (DO)" [PMID:27262366 "DO"] synonym: "AApoAIV amyloidosis" EXACT [] synonym: "renal AApoAIV amyloidosis" EXACT [] xref: ORDO:439232 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:09:58Z [Term] id: DOID:0080928 name: dialysis-related amyloidosis def: "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/ "DO"] synonym: "ABeta2M amyloidosis" EXACT [] synonym: "Amyloidosis Beta2M" EXACT [] synonym: "Aβ2M amyloidosis" EXACT [] synonym: "Beta2-microglobulinic amyloidosis" EXACT [] synonym: "dialysis-related beta2-microglobulin amyloidosis" EXACT [] xref: GARD:0010563 xref: ORDO:439246 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:11:52Z [Term] id: DOID:0080929 name: variant ABeta2M amyloidosis def: "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. (DO)" [PMID:32392555 "DO"] synonym: "Autosomal dominant beta2-microglobulinic amyloidosis" EXACT [] xref: ORDO:314652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:13:47Z [Term] id: DOID:0080930 name: primary localized cutaneous amyloidosis 1 alt_id: DOID:9003043 def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. (DO)" [PMID:19663869 "DO"] synonym: "AMYLOIDOSIS, PRIMARY CUTANEOUS, 1" EXACT [] synonym: "familial primary localized cutaneous amyloidosis-1" EXACT [] synonym: "OSMR-RELATED CONDITION" EXACT [] synonym: "PCA1" EXACT [] synonym: "PLCA1" EXACT [] xref: MIM:105250 xref: NCI:C189282 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:15:10Z [Term] id: DOID:0080931 name: primary localized cutaneous amyloidosis 2 alt_id: DOID:9005272 def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. (DO)" [PMID:19663869 "DO"] synonym: "IL31RA-RELATED CONDITION" EXACT [] synonym: "PLCA2" EXACT [] xref: MIM:613955 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:28:06Z [Term] id: DOID:0080932 name: primary localized cutaneous amyloidosis 3 alt_id: DOID:9009134 def: "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. (DO)" [PMID:25866143 "DO"] synonym: "ACD" EXACT [] synonym: "amyloidosis cutis dyschromica" EXACT [] synonym: "GPNMB-RELATED CONDITION" EXACT [] synonym: "PLCA3" EXACT [] xref: MIM:617920 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:29:30Z [Term] id: DOID:0080933 name: immunoglobulin light chain amyloidosis alt_id: DOID:9005869 def: "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/ "DO", PMID:26771835 "DO"] synonym: "AL amyloidosis" EXACT [] synonym: "light chain amyloidosis" EXACT [] synonym: "Primary AL amyloidosis" EXACT [] synonym: "primary amyloid" EXACT [] synonym: "Primary Amyloidosis" EXACT [] synonym: "Primary systemic AL amyloidosis" EXACT [] synonym: "primary systemic amyloidosis" EXACT [] synonym: "systemic AL amyloidsis" EXACT [] xref: ICD10CM:E85.81 xref: MESH:D000075363 xref: MONDO:0019438 xref: NCI:C158963 is_a: DOID:114 ! heart disease is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9007454 ! amyloidoma is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:31:04Z [Term] id: DOID:0080934 name: immunoglobulin heavy chain amyloidosis def: "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. (DO)" [PMID:32703752 "DO"] synonym: "AH amyloidosis" EXACT [] synonym: "Amyloidosis derived from immunoglobulin heavy chain" EXACT [] synonym: "Heavy chain amyloidosis" EXACT [] synonym: "Ig heavy-chainâ??associated amyloidosis" EXACT [] xref: ORDO:442582 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:34:07Z [Term] id: DOID:0080935 name: immunoglobulin heavy-and-light chain def: "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. (DO)" [PMID:23302715 "DO"] synonym: "AH/AL amyloidosis" EXACT [] synonym: "Ig heavy-and-light-chain amyloidosis" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:35:58Z [Term] id: DOID:0080936 name: serum amyloid A amyloidosis def: "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. (DO)" [https://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa "DO"] synonym: "AA amyloidosis" EXACT [] synonym: "Apo serum amyloid A amyloidosis" EXACT [] synonym: "inflammation AA amyloidosis" EXACT [] synonym: "secondary amyloidosis" EXACT [] xref: ICD10CM:E85.3 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:36:56Z [Term] id: DOID:0080937 name: wild-type amyloidosis def: "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. (DO)" [https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr "DO"] synonym: "Age related amyloidosis" EXACT [] synonym: "ATTRwt amyloidosis" EXACT [] synonym: "Old age amyloidosis" EXACT [] synonym: "senile systemic amyloidosis" EXACT [] synonym: "wild-type ATTR amyloidosis" EXACT [] synonym: "wild-type transthyretin cardiac amyloidosis" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:114 ! heart disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:38:35Z [Term] id: DOID:0080938 name: nonobstructive coronary artery disease def: "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/ "DO", PMID:25369489 "DO"] synonym: "non-CAD" EXACT [] synonym: "non-obstructive coronary artery disease" EXACT [] xref: EFO:1001483 is_a: DOID:3393 ! coronary artery disease created_by: mtutaj creation_date: 2021-06-03T18:11:48Z [Term] id: DOID:0080939 name: hereditary angioedema type I alt_id: DOID:9003826 def: "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. (DO)" [PMID:11161971 "DO"] synonym: "deficiency of C1 esterase inhibitor" EXACT [] synonym: "HAE1" EXACT [] synonym: "HAE2" RELATED [] synonym: "hereditary angioedema, autosomal recessive" EXACT [] synonym: "hereditary angioedema type 1" EXACT [] synonym: "hereditary angioedema type II" RELATED [] synonym: "hereditary angioedema types I and II" BROAD [] synonym: "HEREDITARY ANGIOEDEMA WITH C1INH DEFICIENCY" EXACT [] synonym: "hereditary C1 esterase inhibitor deficiency - dysfunctional factor" EXACT [] synonym: "SERPING1-RELATED CONDITION" BROAD [] xref: MESH:D056829 xref: MIM:106100 xref: MONDO:0033946 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060002 ! C1 inhibitor deficiency is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-03T18:13:17Z [Term] id: DOID:0080940 name: hereditary angioedema type III alt_id: DOID:9004475 alt_id: MIM:610618 def: "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. (DO)" [PMID:16638441 "DO"] synonym: "estrogen related HAE" EXACT [] synonym: "Estrogen Sensitive HAE" EXACT [] synonym: "Estrogen Sensitive Hereditary Angioedema" EXACT [] synonym: "Estrogen-Sensitive Hereditary Angioedemas" EXACT [] synonym: "F12-RELATED CONDITION" BROAD [] synonym: "HAE3" EXACT [] synonym: "HAE III" EXACT [] synonym: "HAE with normal C1 inhibitor concentration and function" EXACT [] synonym: "hereditary angioedema 3" EXACT [] synonym: "hereditary angioedema with normal C1 inhibitor activity" EXACT [] synonym: "hereditary angioneurotic edema with normal C1 inhibitor concentration and function" EXACT [] xref: MESH:D056828 is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-03T18:17:35Z [Term] id: DOID:0080941 name: acquired angioedema alt_id: DOID:9003616 alt_id: DOID:9005537 alt_id: MIM:300909 def: "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK430889/ "DO"] synonym: "AEACEI" EXACT [] synonym: "Angioedema Induced by ACE Inhibitors" EXACT [] synonym: "angioedema induced by ace inhibitors, susceptibility to" RELATED [] xref: MESH:C538173 is_a: DOID:1558 ! angioedema created_by: mtutaj creation_date: 2021-06-03T18:19:33Z [Term] id: DOID:0080942 name: anauxetic dysplasia alt_id: DOID:9009210 def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"] synonym: "anauxetic dysplasias" EXACT [] xref: MIM:PS607095 xref: ORDO:93347 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2021-06-03T17:53:20Z [Term] id: DOID:0080943 name: 46,XX sex reversal 5 alt_id: DOID:9009108 def: "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. (DO)" [PMID:29478779 "DO"] synonym: "NR2F2-RELATED DISORDER" BROAD [] synonym: "SRXX5" EXACT [] xref: MIM:618901 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal created_by: mtutaj creation_date: 2021-06-03T18:26:15Z [Term] id: DOID:0080944 name: familial Behcet-like autoinflammatory syndrome 1 alt_id: DOID:9003185 def: "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26642243/ "DO"] synonym: "A20 haploinsufficiency" EXACT [] synonym: "AIFBL1" EXACT [] synonym: "AISBL" EXACT [] synonym: "TNFAIP3-RELATED CONDITION" EXACT [] xref: EFO:0020034 xref: MIM:616744 xref: MONDO:0800045 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome created_by: mtutaj creation_date: 2021-06-03T18:29:30Z [Term] id: DOID:0080945 name: abdominal obesity-metabolic syndrome 4 alt_id: DOID:9002105 def: "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. (DO)" [PMID:31358993 "DO"] synonym: "AOMS4" EXACT [] xref: MIM:618620 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome created_by: mtutaj creation_date: 2021-06-03T18:33:57Z [Term] id: DOID:0080946 name: retinal dystrophy with leukodystrophy alt_id: DOID:9003874 def: "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. (DO)" [PMID:27799409 "DO"] synonym: "ACBD5 deficiency" EXACT [] synonym: "ACBD5-related condition" BROAD [] synonym: "RDLKD" EXACT [] xref: EFO:0010738 xref: MIM:618863 xref: MONDO:0030026 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:5679 ! retinal disease is_a: DOID:906 ! peroxisomal disease created_by: slaulede creation_date: 2020-08-14T13:34:34Z [Term] id: DOID:0080947 name: acute flaccid myelitis def: "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/ "DO"] synonym: "acute flaccid paralysis" EXACT [] xref: MESH:C000629404 is_a: DOID:322 ! myelitis created_by: mtutaj creation_date: 2021-06-03T18:41:54Z [Term] id: DOID:0080948 name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome alt_id: DOID:9003161 def: "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)" [PMID:31585109 "DO"] synonym: "ACOGS" EXACT [] xref: MIM:618929 is_a: DOID:114 ! heart disease is_a: DOID:15 ! reproductive system disease is_a: DOID:225 ! syndrome is_a: DOID:5614 ! eye disease is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: slaulede creation_date: 2020-09-03T17:00:13Z [Term] id: DOID:0080949 name: alcoholic ketoacidosis def: "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. (DO)" [https://medlineplus.gov/ency/article/000323.htm "DO"] is_a: DOID:0050758 ! metabolic acidosis created_by: mtutaj creation_date: 2021-06-03T18:47:13Z [Term] id: DOID:0080950 name: alopecia-mental retardation syndrome 4 alt_id: DOID:9008723 def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)" [PMID:30723320 "DO"] synonym: "alopecia-intellectual disability syndrome 4" EXACT [] synonym: "APMR4" EXACT [] xref: MIM:618840 xref: MONDO:0030009 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome created_by: mtutaj creation_date: 2020-04-08T12:55:10Z [Term] id: DOID:0080951 name: alopecia-mental retardation syndrome 3 alt_id: DOID:9005500 def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. (DO)" [PMID:17451405 "DO"] synonym: "alopecia-intellectual disability syndrome 3" EXACT [] synonym: "APMR3" EXACT [] xref: MIM:613930 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome created_by: mtutaj creation_date: 2021-06-03T18:52:32Z [Term] id: DOID:0080952 name: AMED syndrome alt_id: DOID:9000959 def: "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)" [PMID:33355142 "DO"] synonym: "AMEDS" EXACT [] synonym: "AMED SYNDROME, DIGENIC" EXACT [] synonym: "BMFS7" EXACT [] synonym: "BONE MARROW FAILURE SYNDROME 7, DIGENIC" EXACT [] xref: MIM:619151 xref: MONDO:0030894 xref: NCI:C185246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:0080578 ! digenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-02-09T13:44:23Z [Term] id: DOID:0080953 name: amelogenesis imperfecta type 1J alt_id: DOID:9002499 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. (DO)" [PMID:27843125 "DO"] synonym: "ACP4-RELATED CONDITION" EXACT [] synonym: "AI1J" EXACT [] synonym: "Amelogenesis Imperfecta Type IJ" EXACT [] xref: EFO:0009302 xref: MIM:617297 xref: MONDO:0015008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta created_by: mtutaj creation_date: 2021-06-03T19:00:06Z [Term] id: DOID:0080954 name: arthrogryposis multiplex congenita alt_id: DOID:0110631 alt_id: DOID:9000338 def: "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis "DO", https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita "DO"] synonym: "amyoplasia congenita" EXACT [] synonym: "arthrogryposes" EXACT [] synonym: "Arthrogryposis" EXACT [] synonym: "arthrogryposis due to muscular dystrophy" RELATED [] synonym: "arthrogryposis multiplex congenita (AMC)" EXACT [] synonym: "Congenital Arthromyodysplasia" EXACT [] synonym: "congenital arthromyodysplasias" EXACT [] synonym: "Congenital Multiple Arthrogryposes" EXACT [] synonym: "Congenital Multiple Arthrogryposis" EXACT [] synonym: "congenital muscular dystrophy producing arthrogryposis" RELATED [] synonym: "Fibrous Ankylosis of Multiple Joints" EXACT [] synonym: "Guerin Stern Syndrome" EXACT [] synonym: "Guérin Stern Syndrome" EXACT [] synonym: "muscular dystrophy and arthrogryposis" EXACT [] synonym: "myodystrophia fetalis deformans" EXACT [] synonym: "Otto syndrome" EXACT [] synonym: "Rocher Sheldon syndrome" EXACT [] synonym: "Rossi syndrome" EXACT [] xref: EFO:0003857 xref: GARD:777 xref: ICD10CM:M62.8 xref: MESH:C564985 xref: MESH:D001176 xref: MIM:PS617468 xref: MONDO:0015168 xref: NCI:C84572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080000 ! muscular disease is_a: DOID:0080015 ! physical disorder is_a: DOID:381 ! arthropathy is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2021-06-03T19:02:48Z [Term] id: DOID:0080956 name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772 "DO"] xref: NCI:C6772 is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered created_by: mtutaj creation_date: 2021-06-03T19:11:00Z [Term] id: DOID:0080957 name: primary hypoalphalipoproteinemia 1 alt_id: DOID:9001933 def: "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. (DO)" [https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ "DO"] synonym: "ABCA1 POLYMORPHISM" RELATED [] synonym: "ABCA1-related condition" BROAD [] synonym: "ABCA1-related disorder" BROAD [] synonym: "familial HDL deficiency" EXACT [] synonym: "familial HDL lipoprotein deficiency disease" EXACT [] synonym: "familial high density lipoprotein deficiency" EXACT [] synonym: "familial high density lipoprotein deficiency disease" EXACT [] synonym: "HDL deficiency, type 2" EXACT [] synonym: "low serum HDL cholesterol" EXACT [] synonym: "primary hypoalphalipoproteinemia" EXACT [] xref: GARD:2872 xref: MESH:C538394 xref: MIM:604091 xref: MONDO:0011393 is_a: DOID:9002117 ! Hypoalphalipoproteinemias created_by: mtutaj creation_date: 2021-06-03T19:13:54Z [Term] id: DOID:0080958 name: primary hypoalphalipoproteinemia 2 alt_id: DOID:9006651 alt_id: MIM:619836 def: "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. (DO)" [PMID:29396262 "DO"] synonym: "absence of apolipoprotein a-1, due to deletion of apoa1/apoc3/apoa4 gene complex" NARROW [] synonym: "APOA1 Deficiency" EXACT [] synonym: "APOA1-RELATED CONDITION" EXACT [] synonym: "APOLIPOPROTEIN A-I (BALTIMORE)" RELATED [] synonym: "apolipoprotein A-I deficiency" EXACT [] synonym: "CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY" EXACT [] synonym: "deficiency of apolipoprotein A-I" EXACT [] synonym: "primary hypoalphalipoproteinemia 2, autosomal dominant" NARROW [] synonym: "primary hypoalphalipoproteinemia 2, intermediate" NARROW [] xref: GARD:758 xref: MIM:618463 xref: ORDO:425 is_a: DOID:0111370 ! apolipoprotein C-III deficiency is_a: DOID:9002117 ! Hypoalphalipoproteinemias created_by: mtutaj creation_date: 2021-06-03T20:12:56Z [Term] id: DOID:0080959 name: arrhythmogenic right ventricular dysplasia 14 alt_id: DOID:9005146 def: "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)" [PMID:28280076 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 14" EXACT [] synonym: "ARVC14" EXACT [] synonym: "ARVD14" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 14" EXACT [] xref: MIM:618920 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-06-24T12:17:06Z [Term] id: DOID:0080960 name: amelogenesis imperfecta type 2A6 alt_id: DOID:9006208 def: "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. (DO)" [PMID:3150442 "DO"] synonym: "AI2A6" EXACT [] synonym: "Amelogenesis Imperfecta Hypomaturation Type, 2A6" EXACT [] synonym: "Amelogenesis Imperfecta, Hypomaturation Type, IIA6" EXACT [] xref: MIM:617217 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type created_by: mtutaj creation_date: 2021-06-03T20:25:39Z [Term] id: DOID:0080962 name: anauxetic dysplasia 2 alt_id: DOID:9005915 def: "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. (DO)" [PMID:28067412 "DO"] synonym: "ANXD2" EXACT [] synonym: "POP1-RELATED CONDITION" EXACT [] xref: MIM:617396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia created_by: rgd creation_date: 2017-06-09T00:00:00Z [Term] id: DOID:0080963 name: anauxetic dysplasia 3 alt_id: DOID:9000259 def: "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. (DO)" [PMID:31250547 "DO"] synonym: "ANXD3" EXACT [] synonym: "NEPRO-RELATED CONDITION" EXACT [] xref: MIM:618853 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia created_by: mtutaj creation_date: 2020-04-24T08:34:54Z [Term] id: DOID:0080964 name: intracranial berry aneurysm 1 alt_id: DOID:9007437 alt_id: MIM:105800 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. (DO)" [PMID:16736093 "DO"] synonym: "ANIB1" EXACT [] xref: MESH:C566284 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:32:16Z [Term] id: DOID:0080965 name: intracranial berry aneurysm 2 alt_id: DOID:9003407 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. (DO)" [PMID:14872410 "DO"] synonym: "ANIB2" EXACT [] xref: MESH:C536360 xref: MIM:608542 xref: MONDO:0012053 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:33:51Z [Term] id: DOID:0080966 name: intracranial berry aneurysm 3 alt_id: DOID:9008738 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. (DO)" [PMID:16736093 "DO"] synonym: "ANIB3" EXACT [] xref: MESH:C563792 xref: MIM:609122 xref: MONDO:0012194 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:35:37Z [Term] id: DOID:0080967 name: intracranial berry aneurysm 4 alt_id: DOID:9008074 alt_id: MIM:610213 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. (DO)" [PMID:16736093 "DO"] synonym: "ANIB4" EXACT [] xref: MESH:C565700 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:37:19Z [Term] id: DOID:0080968 name: intracranial berry aneurysm 5 alt_id: DOID:9002709 alt_id: MIM:300870 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. (DO)" [PMID:16736093 "DO"] synonym: "ANIB5" EXACT [] xref: MESH:C563670 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:39:18Z [Term] id: DOID:0080969 name: intracranial berry aneurysm 6 alt_id: DOID:9005481 alt_id: MIM:611892 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. (DO)" [PMID:16736093 "DO"] synonym: "ANIB6" EXACT [] xref: MESH:C567500 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:41:09Z [Term] id: DOID:0080970 name: intracranial berry aneurysm 7 alt_id: DOID:9007029 alt_id: MIM:612161 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. (DO)" [PMID:16736093 "DO"] synonym: "ANIB7" EXACT [] xref: MESH:C567406 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:43:14Z [Term] id: DOID:0080971 name: intracranial berry aneurysm 8 alt_id: DOID:9005195 alt_id: MIM:612162 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. (DO)" [PMID:16736093 "DO"] synonym: "ANIB8" EXACT [] xref: MESH:C567405 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:45:01Z [Term] id: DOID:0080972 name: intracranial berry aneurysm 9 alt_id: DOID:9006568 alt_id: MIM:612586 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. (DO)" [PMID:16736093 "DO"] synonym: "Anib9" EXACT [] xref: MESH:C567238 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:47:03Z [Term] id: DOID:0080973 name: intracranial berry aneurysm 10 alt_id: DOID:9008930 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. (DO)" [PMID:16736093 "DO"] synonym: "ANIB10" EXACT [] xref: MESH:C567237 xref: MIM:612587 xref: MONDO:0012950 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:48:55Z [Term] id: DOID:0080974 name: intracranial berry aneurysm 11 alt_id: DOID:9000089 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. (DO)" [PMID:16736093 "DO"] synonym: "ANIB11" EXACT [] xref: MIM:614252 xref: MONDO:0013654 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:51:40Z [Term] id: DOID:0080975 name: intracranial berry aneurysm 12 alt_id: DOID:9001608 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. (DO)" [PMID:16736093 "DO"] synonym: "ANIB12" EXACT [] synonym: "THSD1-RELATED CONDITION" BROAD [] xref: MIM:618734 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2020-01-13T11:12:27Z [Term] id: DOID:0080976 name: acute myeloid leukemia with BCR-ABL1 def: "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. (DO)" [PMID:27297971 "DO"] synonym: "Acute myeleoid leukemia with BCR-ABL1" EXACT [] xref: ICDO:9912/3 xref: NCI:C129785 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2021-06-03T20:55:21Z [Term] id: DOID:0080977 name: aortic valve disease 3 alt_id: DOID:9004010 def: "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. (DO)" [PMID:30455415 "DO"] synonym: "AOVD3" EXACT [] synonym: "ROBO4-related condition" EXACT [] xref: MIM:618496 xref: MONDO:0032783 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease is_a: DOID:1682 ! congenital heart disease created_by: mtutaj creation_date: 2019-07-15T08:40:09Z [Term] id: DOID:0080978 name: arthrogryposis multiplex congenita-1 alt_id: DOID:9002454 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. (DO)" [PMID:28318499 "DO"] synonym: "AMC1" EXACT [] synonym: "AMCNMY" EXACT [] synonym: "LGI4-RELATED CONDITION" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita 1, with myelin defect" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita, with myelin defect" EXACT [] xref: MIM:617468 xref: MONDO:0060486 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: mtutaj creation_date: 2021-06-03T20:59:30Z [Term] id: DOID:0080979 name: arthrogryposis multiplex congenita-3 alt_id: DOID:9000909 def: "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. (DO)" [PMID:27782104 "DO"] synonym: "AMC3" EXACT [] synonym: "AMCM" EXACT [] synonym: "Arthrogryposis Multiplex Congenita 3, Myogenic Type" EXACT [] synonym: "arthrogryposis multiplex congenita, myogenic type" EXACT [] xref: MIM:618484 xref: MONDO:0032778 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: slaulede creation_date: 2019-08-13T13:50:03Z [Term] id: DOID:0080980 name: arthrogryposis multiplex congenita-4 alt_id: DOID:9008459 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. (DO)" [PMID:31960134 "DO"] synonym: "AMC4" EXACT [] synonym: "AMCNACC" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita 4 with agenesis of the corpus callosum" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita with agenesis of the corpus callosum" EXACT [] synonym: "SCYL2-RELATED DISORDER" EXACT [] synonym: "Zain syndrome" EXACT [] xref: MIM:618766 xref: MONDO:0032903 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: slaulede creation_date: 2020-03-12T16:39:23Z [Term] id: DOID:0080981 name: arthrogryposis multiplex congenita-5 alt_id: DOID:9008886 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)" [PMID:29053766 "DO"] synonym: "AMC5" EXACT [] synonym: "TOR1A-RELATED DISORDER" BROAD [] xref: MIM:618947 xref: MONDO:0100218 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: mtutaj creation_date: 2020-08-03T12:45:12Z [Term] id: DOID:0080982 name: X-linked intellectual disability-hypotonic facies syndrome-1 alt_id: DOID:9005524 def: "A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome. (DO)" [PMID:15508018 "DO"] synonym: "ATRX-related disorder" BROAD [] synonym: "Carpenter-Waziri syndrome" EXACT [] synonym: "Chudley-Lowry-Hoar syndrome" EXACT [] synonym: "Chudley-Lowry syndrome" EXACT [] synonym: "Chudley mental retardation syndrome" EXACT [] synonym: "Chudley syndrome 1" EXACT [] synonym: "Holmes-Gang syndrome" EXACT [] synonym: "INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED" EXACT [] synonym: "MRXHF1" EXACT [] synonym: "SFM1" EXACT [] synonym: "SFMS" EXACT [] synonym: "Smith-Fineman-Myers syndrome 1" EXACT [] synonym: "X-linked hypogonadism gynecomastia mental retardation" EXACT [] synonym: "X-linked mental retardation-hypotonic facies syndrome" EXACT [] synonym: "X-linked mental retardation-hypotonic facies syndrome-1" EXACT [] synonym: "XLMR-hypotonic facies syndrome" EXACT [] xref: MESH:C537457 xref: MIM:309580 xref: MONDO:0010663 xref: ORDO:73220 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2021-06-03T21:19:04Z [Term] id: DOID:0080984 name: X-linked intellectual developmental disorder 109 alt_id: DOID:9002187 def: "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. (DO)" [PMID:21739600 "DO"] synonym: "AFF2-related condition" EXACT [] synonym: "fragile site on chromosome Xq28" EXACT [] synonym: "fragile XE syndrome" EXACT [] synonym: "FRAXE mental retardation syndrome" EXACT [] synonym: "FRAXE syndrome" EXACT [] synonym: "MRX109" EXACT [] synonym: "XLID109" EXACT [] synonym: "X-linked mental retardation 109" EXACT [] synonym: "X-linked mental retardation associated with fragile site FRAXE" EXACT [] xref: GARD:2378 xref: MIM:309548 xref: MONDO:0010659 xref: ORDO:100973 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14261 ! fragile X syndrome created_by: mtutaj creation_date: 2021-04-15T10:43:24Z [Term] id: DOID:0080985 name: syndromic X-linked intellectual disorder Lujan-Fryns-type alt_id: DOID:9001908 def: "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. (DO)" [https://medlineplus.gov/genetics/condition/lujan-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1676/ "DO"] synonym: "Lujan-Fryns syndrome" EXACT [] synonym: "Lujan syndrome" EXACT [] synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies" EXACT [] synonym: "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME" BROAD [] synonym: "MRXSLF" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Lujan-Fryns type" EXACT [] synonym: "X-Linked Intellectual Deficit with Marfanoid Habitus" EXACT [] synonym: "X-linked mental retardation with marfanoid habitus" EXACT [] synonym: "X-linked mental retardation with marfanoid habitus 1" EXACT [] synonym: "X-linked mental retardation with marfanoid habitus syndrome" EXACT [] synonym: "XLMR with Marfanoid Features" EXACT [] xref: GARD:3307 xref: MESH:C537724 xref: MIM:309520 xref: MONDO:0010655 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14323 ! Marfan syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-06-03T21:27:14Z [Term] id: DOID:0080986 name: Ehlers-Danlos syndrome periodontal type 1 alt_id: DOID:9004784 alt_id: MIM:130080 def: "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. (DO)" [PMID:27745832 "DO"] synonym: "C1R-RELATED CONDITION" EXACT [] synonym: "EDS8" EXACT [] synonym: "EDSPD1" EXACT [] synonym: "EDS VIII" EXACT [] synonym: "Ehlers-Danlos Syndrome, Periodontitis Type" EXACT [] synonym: "Ehlers-Danlos Syndrome, Periodontosis Type" EXACT [] synonym: "Ehlers-Danlos Syndrome Type 8" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type VIII" EXACT [] xref: MESH:C562626 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:824 ! periodontitis created_by: mtutaj creation_date: 2021-06-03T21:30:50Z [Term] id: DOID:0080987 name: Ehlers-Danlos syndrome periodontal type 2 alt_id: DOID:9002437 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. (DO)" [PMID:27745832 "DO"] synonym: "C1S-RELATED CONDITION" BROAD [] synonym: "EDSPD2" EXACT [] xref: GARD:12474 xref: MIM:617174 xref: ORDO:75392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:824 ! periodontitis created_by: mtutaj creation_date: 2021-06-03T21:33:13Z [Term] id: DOID:0080988 name: pretibial dystrophic epidermolysis bullosa alt_id: DOID:9001453 alt_id: MIM:131850 def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. (DO)" [PMID:7738360 "DO"] synonym: "Epidermolysis Bullosa Dystrophica, Pretibial" EXACT [] synonym: "pretibial DEB" EXACT [] synonym: "Pretibial Epidermolysis Bullosa" EXACT [] synonym: "pretibial epidermolysis bullosa, autosomal recessive" NARROW [] xref: GARD:2155 xref: MESH:C535494 xref: ORDO:79410 is_a: DOID:4959 ! epidermolysis bullosa dystrophica created_by: mtutaj creation_date: 2021-06-03T21:35:49Z [Term] id: DOID:0080990 name: King Denborough syndrome alt_id: DOID:9003967 alt_id: MIM:619542 def: "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1146/ "DO"] synonym: "Anesthetic-induced malignant hyperpyrexia in children" EXACT [] synonym: "King syndrome" EXACT [] xref: EFO:0009071 xref: GARD:8433 xref: MESH:C536883 xref: ORDO:99741 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:423 ! myopathy is_a: DOID:8545 ! malignant hyperthermia created_by: mtutaj creation_date: 2021-06-08T15:36:30Z [Term] id: DOID:0080991 name: congenital myopathy 1B alt_id: DOID:9004586 def: "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. (DO)" [PMID:11731287 "DO"] synonym: "autosomal recessive congenital myopathy 1B" EXACT [] synonym: "CMYO1B" EXACT [] synonym: "CMYP1B" EXACT [] synonym: "minicore disease" EXACT [] synonym: "minicore myopathy" EXACT [] synonym: "minicore myopathy with external ophthalmoplegia" EXACT [] synonym: "multicore disease" EXACT [] synonym: "Multicore Myopathy" EXACT [] synonym: "multicore myopathy with external ophthalmoplegia" EXACT [] synonym: "multi-minicore disease" EXACT [] synonym: "multiminicore disease" EXACT [] synonym: "multiminicore disease with external ophthalmoplegia" EXACT [] synonym: "multiminicore myopathy" EXACT [] xref: GARD:10316 xref: MESH:C564969 xref: MIM:255320 xref: MONDO:0009712 xref: NCI:C150608 xref: ORDO:598 is_a: DOID:0081337 ! congenital myopathy is_a: DOID:422 ! congenital structural myopathy is_a: DOID:539 ! ophthalmoplegia created_by: mtutaj creation_date: 2021-06-08T15:40:18Z [Term] id: DOID:0080992 name: rhabdomyolysis-myalgia syndrome def: "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/ "DO"] is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2021-06-08T15:44:31Z [Term] id: DOID:0080994 name: autoimmune epilepsy def: "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/ "DO", PMID:27112680 "DO"] xref: MONDO:0850416 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:1826 ! epilepsy is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-07-29T12:41:46Z [Term] id: DOID:0080995 name: tuberculous encephalopathy def: "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. (DO)" [https://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us "DO"] is_a: DOID:399 ! tuberculosis created_by: mtutaj creation_date: 2021-07-29T12:43:51Z [Term] id: DOID:0080996 name: diffuse large B-cell lymphoma activated B-cell type def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081 "DO"] synonym: "DLBCL ABC type" EXACT [] xref: NCI:C36081 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2021-07-29T12:46:08Z [Term] id: DOID:0080997 name: diffuse large B-cell lymphoma germinal center B-cell type def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080 "DO"] xref: NCI:C36080 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2021-07-29T12:47:22Z [Term] id: DOID:0080998 name: acute necrotizing pancreatitis alt_id: DOID:9006745 def: "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. (DO)" [PMID:28381378 "DO"] synonym: "necrotizing pancreatitis" EXACT [] xref: MESH:D019283 is_a: DOID:2913 ! acute pancreatitis created_by: mtutaj creation_date: 2021-07-29T12:48:29Z [Term] id: DOID:0080999 name: acute hemorrhagic pancreatitis alt_id: DOID:9000500 def: "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/ "DO"] synonym: "acute haemorrhagic pancreatitis" EXACT [] synonym: "hemorrhagic pancreatitis" EXACT [] xref: MESH:D000081032 xref: MONDO:0850421 is_a: DOID:2913 ! acute pancreatitis created_by: mtutaj creation_date: 2021-07-29T12:53:52Z [Term] id: DOID:0081000 name: Cowden syndrome 4 alt_id: DOID:9000532 def: "A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. (DO)" [PMID:21177507 "DO"] synonym: "CWS4" EXACT [] synonym: "KLLN-related condition" BROAD [] xref: MIM:615107 xref: MONDO:0014046 is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T12:56:24Z [Term] id: DOID:0081001 name: Cowden syndrome 5 alt_id: DOID:9002318 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. (DO)" [PMID:23246288 "DO"] synonym: "Cowden disease 5" EXACT [] synonym: "CWS5" EXACT [] xref: MIM:615108 xref: MONDO:0014047 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T12:59:14Z [Term] id: DOID:0081002 name: Cowden syndrome 6 alt_id: DOID:9002136 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. (DO)" [PMID:23246288 "DO"] synonym: "Cowden disease 6" EXACT [] synonym: "CWS6" EXACT [] xref: MIM:615109 xref: MONDO:0014048 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T13:01:05Z [Term] id: DOID:0081003 name: Cowden syndrome 7 alt_id: DOID:9001093 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. (DO)" [PMID:26522472 "DO"] synonym: "CWS7" EXACT [] synonym: "SEC23B-related condition" BROAD [] xref: MIM:616858 xref: MONDO:0014802 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T13:02:50Z [Term] id: DOID:0081004 name: high-grade B-cell lymphoma double-hit/triple-hit def: "A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. (DO)" [PMID:29475959 "DO"] synonym: "HGBL-DH/TH" EXACT [] synonym: "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements" EXACT [] xref: MONDO:0850426 xref: NCI:C125904 is_a: DOID:0081452 ! large B-cell lymphoma created_by: mtutaj creation_date: 2021-07-29T13:05:05Z [Term] id: DOID:0081005 name: parsley allergy def: "A vegetable allergy triggered by parsley (Petroselinum). (DO)" [PMID:25648063 "DO"] is_a: DOID:0070334 ! vegetable allergy created_by: mtutaj creation_date: 2021-08-21T18:39:24Z [Term] id: DOID:0081006 name: dill allergy def: "A food allergy triggered by dill (Anethum graveolens). (DO)" [PMID:10831013 "DO"] is_a: DOID:0070334 ! vegetable allergy created_by: mtutaj creation_date: 2021-08-21T18:40:51Z [Term] id: DOID:0081007 name: RNASET2-deficient cystic leukoencephalopathy alt_id: DOID:9000690 alt_id: MIM:612951 def: "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. (DO)" [https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms "DO"] synonym: "Cystic Leukoencephalopathy" EXACT [] synonym: "Cystic Leukoencephalopathy without Megalencephaly" EXACT [] synonym: "infantile-onset RNASET2 deficient cystic leukoencephalopathy" EXACT [] synonym: "LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY" EXACT [] synonym: "RNASET2-RELATED CONDITION" EXACT [] xref: GARD:13199 xref: MESH:C567845 xref: ORDO:85136 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9007583 ! Cysts created_by: mtutaj creation_date: 2021-08-21T18:45:48Z [Term] id: DOID:0081008 name: Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia alt_id: DOID:9007723 def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. (DO)" [PMID:27523599 "DO"] comment: Nomenclature update on Nov 2025 (claudiasbj) synonym: "GNB5-RELATED CONDITION" BROAD [] synonym: "GNB5-related intellectual disability-cardiac arrhythmia syndrome" EXACT [] synonym: "IDDCA" EXACT [] synonym: "intellectual developmental disorder with cardiac arrhythmia" EXACT [] xref: MIM:617173 xref: NCI:C164154 xref: ORDO:542306 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2021-08-21T18:51:05Z [Term] id: DOID:0081009 name: Bardet-Biedl syndrome 20 alt_id: DOID:9002181 def: "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. (DO)" [PMID:24290075 "DO"] synonym: "BBS20" EXACT [] xref: MIM:619471 xref: MONDO:0023670 is_a: DOID:1935 ! Bardet-Biedl syndrome created_by: mtutaj creation_date: 2021-08-21T19:46:08Z [Term] id: DOID:0081010 name: Bardet-Biedl syndrome 21 def: "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)" [PMID:27008867 "DO"] synonym: "BBS21" EXACT [] synonym: "C8ORF37-related disorder" BROAD [] synonym: "CFAP418-related condition" BROAD [] xref: DOID:9004815 xref: MIM:617406 xref: MONDO:0044308 is_a: DOID:1935 ! Bardet-Biedl syndrome created_by: mtutaj creation_date: 2021-08-21T19:48:05Z [Term] id: DOID:0081011 name: Bardet-Biedl syndrome 22 alt_id: DOID:9004483 def: "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. (DO)" [PMID:27486776 "DO"] synonym: "Bardet-Biedl syndrome 20 (formerly)" RELATED [] synonym: "BBS20 (formerly)" RELATED [] synonym: "BBS22" EXACT [] xref: MIM:617119 is_a: DOID:1935 ! Bardet-Biedl syndrome created_by: mtutaj creation_date: 2021-08-21T19:49:26Z [Term] id: DOID:0081012 name: critical COVID-19 def: "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"] synonym: "critical COVID19" EXACT [] synonym: "critical SARS-CoV-2 infection" EXACT [] is_a: DOID:0080600 ! COVID-19 created_by: mtutaj creation_date: 2021-10-01T10:07:33Z [Term] id: DOID:0081013 name: severe COVID-19 def: "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"] synonym: "severe COVID19" EXACT [] synonym: "severe SARS-CoV-2 infection" EXACT [] synonym: "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19) DUE TO HIGH LEVELS OF FIBRINOGEN AND C-REACTIVE PROTEIN" RELATED [] synonym: "SUSCEPTIBILITY TO SEVERE COVID-19" RELATED [] is_a: DOID:0080600 ! COVID-19 created_by: mtutaj creation_date: 2021-10-01T10:08:50Z [Term] id: DOID:0081014 name: non-severe COVID-19 def: "A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"] synonym: "non-severe COVID19" EXACT [] synonym: "non-severe SARS-CoV-2 infection" EXACT [] is_a: DOID:0080600 ! COVID-19 created_by: mtutaj creation_date: 2021-10-01T10:09:45Z [Term] id: DOID:0081015 name: congenital fibrosis of the extraocular muscles 1 alt_id: DOID:9007664 alt_id: DOID:9008536 def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. (DO)" [PMID:18214786 "DO"] synonym: "blepharoptosis with absent eye movements" BROAD [] synonym: "CFEOM1" EXACT [] synonym: "CFEOM3B" RELATED [] synonym: "congenital fibrosis of extraocular muscles 1" EXACT [] synonym: "congenital fibrosis of extraocular muscles 3B" RELATED [] synonym: "FEOM1" EXACT [] synonym: "KIF21A-RELATED CONDITION" EXACT [] xref: MESH:C567739 xref: MIM:135700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:11:03Z [Term] id: DOID:0081016 name: congenital fibrosis of the extraocular muscles 2 alt_id: DOID:9005788 def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. (DO)" [PMID:11600883 "DO"] synonym: "CFEOM2" EXACT [] synonym: "congenital fibrosis of extraocular muscles 2" EXACT [] synonym: "congenital fibrosis of extraocular muscles, autosomal recessive" BROAD [] synonym: "FEOM2 LOCUS" EXACT [] xref: MESH:C566587 xref: MIM:602078 xref: MONDO:0011181 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060260 ! ptosis is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:14:17Z [Term] id: DOID:0081017 name: congenital fibrosis of the extraocular muscles 3A alt_id: DOID:9005277 def: "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. (DO)" [PMID:18214786 "DO"] synonym: "CFEOM3A" EXACT [] synonym: "congenital fibrosis of extraocular muscles 3A, with or without extraocular involvement" EXACT [] synonym: "FEOM3 LOCUS" EXACT [] synonym: "TUBB3-related condition" BROAD [] synonym: "TUBB3-related disorder" BROAD [] synonym: "TUBB3-related tubulinopathy" BROAD [] xref: MESH:C567572 xref: MIM:600638 xref: MONDO:0010912 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:16:57Z [Term] id: DOID:0081019 name: congenital fibrosis of the extraocular muscles 3C alt_id: DOID:9000360 alt_id: MIM:609384 def: "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). (DO)" [PMID:15744040 "DO"] synonym: "CFEOM3C" EXACT [] synonym: "congenital fibrosis of extraocular muscles 3C" EXACT [] xref: MESH:C567666 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:19:48Z [Term] id: DOID:0081020 name: congenital fibrosis of the extraocular muscles 5 alt_id: DOID:9008337 def: "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. (DO)" [PMID:25500261 "DO"] synonym: "CFEOM5" EXACT [] synonym: "COL25A1-RELATED CONDITION" EXACT [] synonym: "congenital fibrosis of extraocular muscles 5" EXACT [] xref: MIM:616219 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:23:35Z [Term] id: DOID:0081021 name: Tukel syndrome alt_id: DOID:9003903 alt_id: MIM:609428 def: "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. (DO)" [PMID:15863670 "DO"] synonym: "CFEOM4" EXACT [] synonym: "CFEOM-U" EXACT [] synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" EXACT [] synonym: "congenital fibrosis of extraocular muscles 4" EXACT [] synonym: "congenital fibrosis of extraocular muscles with ulnar hand anomalies" EXACT [] synonym: "congenital fibrosis of the extraocular muscles 4" EXACT [] xref: GARD:9814 xref: MESH:C536925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2021-10-01T10:26:36Z [Term] id: DOID:0081022 name: cone dystrophy with supernormal rod responses alt_id: DOID:9007644 def: "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. (DO)" [PMID:15722315 "DO"] synonym: "CDSRR" EXACT [] synonym: "cone dystrophy with night blindness and supernormal rod responses, KCNV2-related" EXACT [] synonym: "cone dystrophy with supernormal rod electroretinogram" EXACT [1] synonym: "KCNV2-related condition" EXACT [] synonym: "RCD3B" EXACT [] synonym: "retinal cone dystrophy 3B" EXACT [] xref: GARD:10649 xref: MESH:C563678 xref: MIM:610356 xref: MONDO:0012475 xref: NCI:C192089 xref: ORDO:209932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050795 ! cone dystrophy created_by: mtutaj creation_date: 2021-11-16T14:46:03Z [Term] id: DOID:0081023 name: retinal cone dystrophy 4 alt_id: DOID:9003327 alt_id: MIM:610478 def: "A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. (DO)" [PMID:26560832 "DO"] synonym: "CACNA2D4-RELATED CONDITION" EXACT [] synonym: "CACNA2D4-RELATED RETINOPATHY" EXACT [] synonym: "RCD4" EXACT [] xref: GARD:10650 xref: MESH:C566470 is_a: DOID:0050795 ! cone dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-11-16T14:49:13Z [Term] id: DOID:0081024 name: retinal cone dystrophy 1 alt_id: DOID:9001071 def: "A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. (DO)" [PMID:15051206 "DO", PMID:4573331 "DO"] synonym: "Cone Dystrophy, Autosomal Dominant" EXACT [] synonym: "RCD1" EXACT [] synonym: "Retinal Cone Degeneration" EXACT [] xref: GARD:3196 xref: MESH:C566719 xref: MIM:180020 xref: MONDO:0008374 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050795 ! cone dystrophy is_a: DOID:8466 ! retinal degeneration created_by: mtutaj creation_date: 2021-11-16T14:50:46Z [Term] id: DOID:0081025 name: achromatopsia 6 alt_id: DOID:9004469 def: "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13. (DO)" [PMID:22901948 "DO"] synonym: "ACHM6" EXACT [] synonym: "cone dystrophy with night blindness and supernormal rod responses, PDE6H-related" EXACT [] synonym: "RCD3A" EXACT [] synonym: "retinal cone dystrophy 3A" EXACT [] xref: GARD:10648 xref: MESH:C566483 xref: MIM:610024 xref: MONDO:0012398 is_a: DOID:0050795 ! cone dystrophy is_a: DOID:13911 ! achromatopsia created_by: mtutaj creation_date: 2021-11-16T14:52:18Z [Term] id: DOID:0081026 name: benign peritoneal solitary fibrous tumor def: "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. (DO)" [https://medscimonit.com/abstract/index/idArt/459077/act/3 "DO"] xref: NCI:C126357 is_a: DOID:0060117 ! peritoneal benign neoplasm created_by: mtutaj creation_date: 2021-11-16T14:54:01Z [Term] id: DOID:0081028 name: glycogen-rich carcinoma def: "A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/ "DO"] xref: ICDO:8315/3 xref: NCI:C4153 is_a: DOID:3458 ! breast adenocarcinoma created_by: mtutaj creation_date: 2021-12-15T22:59:11Z [Term] id: DOID:0081030 name: central conducting lymphatic anomaly alt_id: DOID:9006808 def: "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. (DO)" [PMID:31263281 "DO"] synonym: "central conduction lymphatic anomaly" EXACT [] synonym: "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM" BROAD [] synonym: "EPHB4-RELATED CONDITION" BROAD [] synonym: "EPHB4-RELATED DISORDERS" BROAD [] synonym: "HFASD" EXACT [] synonym: "LMPHM7" EXACT [] synonym: "lymphatic malformation 7" EXACT [] synonym: "nonimmune hydrops fetalis and/or atrial septal defect" EXACT [] synonym: "susceptibility to nonimmune hydrops fetalis and/or atrial septal defect" RELATED [] xref: MIM:617300 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9008386 ! Hydrops Fetalis created_by: mtutaj creation_date: 2022-02-01T09:17:57Z [Term] id: DOID:0081031 name: generalized lymphatic anomaly def: "A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. (DO)" [PMID:31263281 "DO"] is_a: DOID:75 ! lymphatic system disease created_by: mtutaj creation_date: 2022-02-01T09:22:28Z [Term] id: DOID:0081034 name: glutatione synthetase deficiency with 5-oxoprolinuria def: "A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. (DO)" [PMID:15990954 "DO"] synonym: "5-oxoprolinemia" EXACT [] synonym: "5-oxoprolinuria" EXACT [] synonym: "5-oxoprolinuria due to glutathione synthetase deficiency" EXACT [] synonym: "GSSD" EXACT [] xref: MIM:266130 xref: MONDO:0009947 xref: ORDO:32 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080699 ! glutathione synthetase deficiency created_by: mtutaj creation_date: 2022-02-21T22:25:26Z [Term] id: DOID:0081036 name: mixed phenotype acute leukemia with BCR-ABL1 def: "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/ "DO"] synonym: "Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [] xref: ICDO:9806/3 xref: NCI:C82192 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:30:10Z [Term] id: DOID:0081037 name: mixed phenotype acute leukemia with MLL rearranged def: "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. (DO)" [PMID:32350732 "DO"] synonym: "Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged" EXACT [] xref: ICDO:9807/3 xref: MONDO:0850450 xref: NCI:C82203 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:31:35Z [Term] id: DOID:0081038 name: mixed phenotype acute leukemia, B/myeloid def: "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. (DO)" [PMID:29686566 "DO"] xref: ICDO:9808/3 xref: NCI:C82212 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:32:38Z [Term] id: DOID:0081039 name: mixed phenotype acute leukemia, T/myeloid def: "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. (DO)" [https://link.springer.com/article/10.1186/1471-2407-14-963 "DO"] xref: ICDO:9809/3 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:33:57Z [Term] id: DOID:0081041 name: B-cell prolymphocytic leukemia alt_id: DOID:9007112 def: "A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. (DO)" [PMID:34293709 "DO"] synonym: "B-Cell Prolymphocytic Leukemias" EXACT [] synonym: "Prolymphocytic leukemia, B-cell type" EXACT [] xref: EFO:1000102 xref: GARD:8223 xref: ICDO:9833/3 xref: MESH:D054403 xref: NCI:C4753 xref: ORDO:86852 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma is_a: DOID:1039 ! prolymphocytic leukemia created_by: mtutaj creation_date: 2022-02-21T22:35:46Z [Term] id: DOID:0081042 name: T-cell prolymphocytic leukemia alt_id: DOID:9007193 def: "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (DO)" [PMID:31082044 "DO"] synonym: "chronic T-lymphocytic leukemia" EXACT [] synonym: "Prolymphocytic leukemia, T-cell type" EXACT [] synonym: "T-cell chronic leukemia" EXACT [] synonym: "T-cell chronic lymphocytic leukemia" EXACT [] synonym: "T-Cell Prolymphocytic Leukemias" EXACT [] synonym: "T-Cell Prolymphocytic Leukemia, Somatic" EXACT [] synonym: "TCLL" EXACT [] xref: EFO:1000560 xref: ICDO:9834/3 xref: MESH:D015461 xref: NCI:C4752 xref: NCI:C70649 xref: ORDO:86871 is_a: DOID:1039 ! prolymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia created_by: mtutaj creation_date: 2022-02-21T22:39:22Z [Term] id: DOID:0081043 name: fetal akinesia deformation sequence syndrome X-linked alt_id: DOID:9001100 alt_id: MIM:300073 def: "A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. (DO)" [PMID:9018412 "DO"] synonym: "Brain malformation, growth retardation, hypokinesia and polyhydramnios" EXACT [] synonym: "Fetal Akinesia Syndrome, X-Linked" EXACT [] synonym: "Holmes Benacerraf syndrome" EXACT [] synonym: "X-linked form of fetal akinesia syndrome" EXACT [] xref: GARD:2293 xref: MESH:C537921 is_a: DOID:0002116 ! pterygium is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome is_a: DOID:9006294 ! Congenital Limb Deformities created_by: mtutaj creation_date: 2022-02-21T22:42:39Z [Term] id: DOID:0081044 name: frontonasal dysplasia alt_id: DOID:9002345 def: "A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. (DO)" [https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/ "DO", PMID:27920634 "DO"] synonym: "FND" EXACT [] synonym: "FNM" EXACT [] synonym: "frontonasal dysplasias" EXACT [] synonym: "frontonasal malformation" EXACT [] synonym: "frontorhiny" EXACT [] synonym: "median facial cleft syndrome" EXACT [] xref: GARD:2392 xref: MESH:C538065 xref: MIM:PS136760 xref: NCI:C129028 xref: ORDO:391474 is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-02-21T22:49:53Z [Term] id: DOID:0081045 name: frontonasal dysplasia 1 alt_id: DOID:9003445 def: "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. (DO)" [PMID:19409524 "DO"] synonym: "ALX3-related condition" BROAD [] synonym: "FND1" EXACT [] xref: MIM:136760 xref: MONDO:0007636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia is_a: DOID:1934 ! dysostosis is_a: DOID:9003133 ! Hypertelorism created_by: mtutaj creation_date: 2022-02-21T22:53:01Z [Term] id: DOID:0081046 name: frontonasal dysplasia 2 alt_id: DOID:9007891 def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. (DO)" [PMID:22140057 "DO"] synonym: "FND2" EXACT [] synonym: "FRONTONASAL DYSPLASIA WITH ALOPECIA AND GENITAL ANOMALY" EXACT [] xref: MIM:613451 xref: MONDO:0013268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia is_a: DOID:11383 ! cryptorchidism is_a: DOID:2340 ! craniosynostosis is_a: DOID:9003133 ! Hypertelorism is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2022-02-21T22:55:00Z [Term] id: DOID:0081047 name: frontonasal dysplasia 3 alt_id: DOID:9000358 def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. (DO)" [PMID:20451171 "DO", PMID:27324866 "DO"] synonym: "ALX1-RELATED CONDITION" EXACT [] synonym: "FND3" EXACT [] synonym: "FRONTONASAL DYSPLASIA - SEVERE MICROPHTHALMIA - SEVERE FACIAL CLEFTING SYNDROME" EXACT [] synonym: "MIM:613456" RELATED [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:10629 ! microphthalmia is_a: DOID:674 ! cleft palate is_a: DOID:9003133 ! Hypertelorism created_by: mtutaj creation_date: 2022-02-21T22:58:17Z [Term] id: DOID:0081048 name: congenital limbs-face contractures-hypotonia-developmental delay syndrome alt_id: DOID:9005675 def: "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. (DO)" [https://www.nature.com/articles/s41598-019-48071-x "DO", PMID:25864427 "DO", PMID:30167850 "DO"] synonym: "CLIFAHDD" EXACT [] synonym: "CLIFAHDD syndrome" EXACT [] synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [] synonym: "NALCN-RELATED CONDITION" BROAD [] synonym: "NALCN-RELATED DISORDERS" BROAD [] xref: EFO:1001868 xref: MIM:616266 xref: NCI:C222353 xref: ORDO:562528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006836 ! Contracture is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-02-21T23:00:03Z [Term] id: DOID:0081049 name: hepatosplenic T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/ "DO"] xref: MONDO:0019474 xref: NCI:C8459 xref: ORDO:86882 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma created_by: mtutaj creation_date: 2022-02-21T23:02:42Z [Term] id: DOID:0081050 name: primary cutaneous gamma-delta T-cell lymphoma def: "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/ "DO"] synonym: "cutaneous gamma/delta T-cell lymphoma" EXACT [] synonym: "primary cutaneous gamma-delta T-cell lymphomas" EXACT [] xref: MONDO:0850459 xref: NCI:C45340 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma created_by: mtutaj creation_date: 2022-02-21T23:05:14Z [Term] id: DOID:0081051 name: microcephaly, growth deficiency, seizures, and brain malformations alt_id: DOID:9008429 def: "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. (DO)" [PMID:26416026 "DO"] synonym: "MIGSB" EXACT [] synonym: "WDR4-related condition" BROAD [] xref: MIM:618346 xref: MONDO:0032690 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2022-02-22T07:56:24Z [Term] id: DOID:0081052 name: neurobehavioral disorder with prenatal alcohol exposure def: "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. (DO)" [https://www.cdc.gov/ncbddd/fasd/facts.html "DO", PMID:27464676 "DO"] is_a: DOID:0050696 ! fetal alcohol spectrum disorder created_by: mtutaj creation_date: 2022-02-22T09:29:43Z [Term] id: DOID:0081055 name: central diabetes insipidus def: "A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. (DO)" [PMID:15070970 "DO"] xref: GARD:6015 xref: ORDO:178029 is_a: DOID:9409 ! diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:30:52Z [Term] id: DOID:0081057 name: gestational diabetes insipidus alt_id: DOID:9007430 def: "A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. (DO)" [PMID:32205050 "DO"] synonym: "transient diabetes insipidus of pregnancy" EXACT [] xref: MESH:C548014 is_a: DOID:9409 ! diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:34:44Z [Term] id: DOID:0081058 name: dipsogenic diabetes insipidus alt_id: DOID:9006797 def: "A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. (DO)" [PMID:33916272 "DO", PMID:3455068 "DO"] xref: MESH:C548013 is_a: DOID:9409 ! diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:36:33Z [Term] id: DOID:0081059 name: X-linked central diabetes insipidus def: "A central diabetes insipidus that has_material_basis_in X-linked inheritance. (DO)" [PMID:15070970 "DO"] synonym: "X-linked neurohypophyseal diabetes insipidus" EXACT [] xref: MIM:304900 xref: ORDO:30925 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0081055 ! central diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:38:08Z [Term] id: DOID:0081060 name: X-linked nephrogenic diabetes insipidus alt_id: DOID:9008715 def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. (DO)" [PMID:11181969 "DO"] synonym: "AVPR2-RELATED CONDITION" BROAD [] synonym: "NDI1" EXACT [] synonym: "Nephrogenic Diabetes Insipidus 1" EXACT [] synonym: "nephrogenic diabetes insipidus type 1" EXACT [] synonym: "Nephrogenic Diabetes Insipidus, Type I" EXACT [] synonym: "X-linked nephrogenic diabetes insipidus 1" EXACT [] synonym: "XNDI" EXACT [] xref: MIM:304800 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12387 ! nephrogenic diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:47:46Z [Term] id: DOID:0081061 name: nephrogenic diabetes insipidus type 2 alt_id: DOID:9005273 def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. (DO)" [https://medlineplus.gov/ency/article/000511.htm "DO"] synonym: "AQP2-RELATED DISORDER" EXACT [] synonym: "autosomal nephrogenic diabetes insipidus" EXACT [] synonym: "autosomal nephrogenic diabetes insipidus-2" EXACT [] synonym: "NDI2" EXACT [] synonym: "Nephrogenic Diabetes Insipidus 2" EXACT [] synonym: "Nephrogenic Diabetes Insipidus, Type II" EXACT [] xref: MIM:125800 xref: MONDO:0007451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12387 ! nephrogenic diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:56:58Z [Term] id: DOID:0081063 name: DICER1 syndrome def: "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. (DO)" [https://medlineplus.gov/genetics/condition/dicer1-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/ "DO", PMID:31409088 "DO"] synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility" EXACT [] synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [] synonym: "Pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [] synonym: "PPB familial tumor susceptibility syndrome" EXACT [] xref: EFO:0009068 xref: MIM:601200 xref: ORDO:284343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:4765 ! pulmonary blastoma created_by: mtutaj creation_date: 2022-04-04T09:48:19Z [Term] id: DOID:0081064 name: BN2 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO", PMID:29641966 "DO"] synonym: "BN2 DLBCL" EXACT [] xref: NCI:C148395 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:54:15Z [Term] id: DOID:0081065 name: EZB diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO", PMID:29641966 "DO"] synonym: "EZB DLBCL" EXACT [] xref: NCI:C148398 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:55:38Z [Term] id: DOID:0081066 name: MCD diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO", PMID:29641966 "DO"] synonym: "MCD DLBCL" EXACT [] xref: NCI:C148394 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:56:39Z [Term] id: DOID:0081067 name: N1 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. (DO)" [PMID:29641966 "DO"] synonym: "N1 DLBCL" EXACT [] xref: MONDO:0850471 xref: NCI:C148396 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:57:37Z [Term] id: DOID:0081068 name: ST2 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO"] synonym: "ST2 DLBCL" EXACT [] is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:52:11Z [Term] id: DOID:0081069 name: A53 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. (DO)" [PMID:32289277 "DO"] synonym: "A53 DLBCL" EXACT [] is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:53:13Z [Term] id: DOID:0081070 name: EZB-MYC+ diffuse large B-cell lymphoma def: "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ "DO", PMID:32289277 "DO"] synonym: "EZB-MYC+ DLBCL" EXACT [] is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:54:03Z [Term] id: DOID:0081071 name: EZB-MYC- diffuse large B-cell lymphoma def: "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ "DO", PMID:32289277 "DO"] synonym: "EZB-MYC- DLBCL" EXACT [] is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:54:56Z [Term] id: DOID:0081072 name: craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome alt_id: DOID:9006826 alt_id: DOID:9006917 def: "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (DO)" [https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/ "DO", PMID:20018682 "DO", PMID:24194475 "DO", PMID:30556256 "DO"] synonym: "cerebro-facio-thoracic dysplasia" EXACT [] synonym: "cerebrofaciothoracic dysplasia" EXACT [] synonym: "CFSMR" EXACT [] synonym: "Hemangiomas, and cutaneous and intracranial vascular deformations" RELATED [] synonym: "Pascual-Castroviejo syndrome" EXACT [] synonym: "TMCO1 defect syndrome" EXACT [] xref: GARD:1210 xref: MESH:C536302 xref: MESH:C565862 xref: MIM:PS213980 xref: ORDO:1394 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2022-06-02T22:06:05Z [Term] id: DOID:0081073 name: Teebi hypertelorism syndrome alt_id: DOID:9006500 alt_id: DOID:9007841 def: "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. (DO)" [MIM:145420 "DO", PMID:26111080 "DO"] synonym: "brachycephalofrontonasal dysplasia" EXACT [] synonym: "Hypertelorism, Teebi type" EXACT [] synonym: "Teebi Syndrome" EXACT [] xref: GARD:957 xref: MESH:C536951 xref: MIM:PS145420 xref: ORDO:2745 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-06-02T21:50:12Z [Term] id: DOID:0081074 name: Teebi hypertelorism syndrome 2 alt_id: DOID:9000320 def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. (DO)" [PMID:33811546 "DO"] synonym: "CDH11-RELATED CONDITION" BROAD [] synonym: "TBHS2" EXACT [] xref: MIM:619736 is_a: DOID:0081073 ! Teebi hypertelorism syndrome created_by: mtutaj creation_date: 2022-06-02T22:15:05Z [Term] id: DOID:0081075 name: Marsili syndrome alt_id: DOID:9007785 def: "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (DO)" [PMID:29253101 "DO"] synonym: "Congenital Analgesia, Autosomal Dominant" EXACT [] synonym: "IMPAIRED THERMAL SENSITIVITY" NARROW [] synonym: "Indifference to Pain, Congenital, Autosomal Dominant" EXACT [] synonym: "INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT" EXACT [] synonym: "MARSIS" EXACT [] synonym: "ZFHX2-related condition" BROAD [] xref: MESH:C564128 xref: MIM:147430 xref: MONDO:0007828 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008482 ! Congenital Pain Insensitivity created_by: mtutaj creation_date: 2022-06-02T22:17:50Z [Term] id: DOID:0081076 name: blastic plasmacytoid dendritic cell neoplasm def: "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. (DO)" [https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm "DO", PMID:30350260 "DO", PMID:31972688 "DO"] synonym: "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor" EXACT [] synonym: "Agranular CD4+ Natural Killer Cell Leukemia" EXACT [] synonym: "Blastic Natural Killer Leukemia/Lymphoma" EXACT [] synonym: "Blastic NK-Cell Lymphoma" EXACT [] synonym: "CD4+/CD56+ Hematodermic Neoplasm" EXACT [] synonym: "natural killer (NK) cell leukemia/lymphoma" EXACT [] xref: EFO:0010580 xref: GARD:10556 xref: NCI:C7203 is_a: DOID:12603 ! acute leukemia created_by: mtutaj creation_date: 2022-06-02T22:21:46Z [Term] id: DOID:0081077 name: ectodermal dysplasia and immune deficiency alt_id: DOID:9003414 def: "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. (DO)" [https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/ "DO", PMID:27477329 "DO", PMID:34815879 "DO"] synonym: "Anhidrotic ectodermal dysplasia with immune deficiency" EXACT [] synonym: "Ectodermal Dysplasia and Immunodeficiency" EXACT [] synonym: "Ectodermal dysplasia, hypohidrotic, with immune deficiency" EXACT [] synonym: "EDA-ID" EXACT [] synonym: "HED-ID" EXACT [] synonym: "Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency" EXACT [] xref: GARD:9936 xref: MESH:C536181 xref: MIM:PS300291 xref: MONDO:0010293 is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-06-02T22:24:16Z [Term] id: DOID:0081078 name: ectodermal dysplasia and immunodeficiency 1 alt_id: DOID:9005011 def: "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. (DO)" [PMID:31965418 "DO"] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema" EXACT [] synonym: "EDAID1" EXACT [] synonym: "OLEDAID" EXACT [] synonym: "XHM-ED" EXACT [] synonym: "X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia" EXACT [] xref: MESH:C564538 xref: MESH:C564542 xref: MIM:300291 xref: MONDO:0020740 xref: NCI:C118844 xref: ORDO:69088 is_a: DOID:0060022 ! CD40 ligand deficiency is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency is_a: DOID:13533 ! osteopetrosis is_a: DOID:4977 ! lymphedema created_by: mtutaj creation_date: 2022-06-02T22:27:35Z [Term] id: DOID:0081079 name: ectodermal dysplasia and immunodeficiency 2 alt_id: DOID:9000561 alt_id: MIM:612132 def: "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. (DO)" [PMID:28597146 "DO"] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency 2" EXACT [] synonym: "anhidrotic ectodermal dysplasia with T-cell immunodeficiency, autosomal dominant" EXACT [] synonym: "EDAID2" EXACT [] synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency 2" EXACT [] synonym: "NFKBIA-RELATED DISORDER" EXACT [] xref: MESH:C567411 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency created_by: mtutaj creation_date: 2022-06-02T22:30:02Z [Term] id: DOID:0081080 name: acute myeloid leukemia with t(6;9) (p23;q34.1) def: "An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. (DO)" [PMID:32526729 "DO"] synonym: "acute myeloid leukemia with t(6;9)(p23;q34)" EXACT [] synonym: "Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214" EXACT [] synonym: "DEK-NUP214" EXACT [] xref: ICDO:9865/3 xref: NCI:C82423 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:31:55Z [Term] id: DOID:0081081 name: acute promyelocytic leukemia with PML-RARA def: "An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. (DO)" [PMID:24720386 "DO"] synonym: "acute promyelocytic leukemia, t(15;17)(q22;q11-12)" EXACT [] xref: ICDO:9866/3 is_a: DOID:0060318 ! acute promyelocytic leukemia created_by: mtutaj creation_date: 2022-06-02T22:34:45Z [Term] id: DOID:0081082 name: acute myelomonocytic leukemia alt_id: DOID:9000952 def: "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. (DO)" [PMID:31915926 "DO"] synonym: "acute myeloid leukemia, M4" EXACT [] synonym: "Acute Myelomonocytic Leukemias" EXACT [] synonym: "Naegeli-Type Myeloid Leukemia" EXACT [] xref: EFO:0000223 xref: ICD10CM:C92.5 xref: ICDO:9867/3 xref: MESH:D015479 xref: NCI:C7463 xref: ORDO:517 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:35:56Z [Term] id: DOID:0081083 name: acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) def: "An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. (DO)" [PMID:31711889 "DO"] synonym: "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM" EXACT [] synonym: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1" EXACT [] xref: ICDO:9869/3 xref: NCI:C82426 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:40:06Z [Term] id: DOID:0081084 name: acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) def: "An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. (DO)" [PMID:31353165 "DO", PMID:33303720 "DO"] synonym: "acute myeloid leukemia with abnormal marrow eosinophils" EXACT [] synonym: "Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11" EXACT [] xref: ICDO:9871/3 xref: NCI:C9287 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:41:34Z [Term] id: DOID:0081085 name: acute myeloid leukemia with minimal differentiation def: "An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (DO)" [PMID:12110349 "DO"] synonym: "Acute myeloid leukemia, minimal differentiation" EXACT [] synonym: "AML-M0" EXACT [] xref: EFO:0003026 xref: ICDO:9872/3 xref: NCI:C8460 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:42:39Z [Term] id: DOID:0081086 name: acute myeloid leukemia without maturation def: "An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. (DO)" [https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1 "DO"] xref: EFO:0003027 xref: GARD:526 xref: ICDO:9873/3 xref: NCI:C3249 xref: ORDO:98833 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:44:08Z [Term] id: DOID:0081087 name: acute myeloid leukemia with maturation def: "An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. (DO)" [https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation "DO"] xref: EFO:0003028 xref: ICDO:9874/3 xref: NCI:C3250 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:45:31Z [Term] id: DOID:0081088 name: chronic myelogenous leukemia, BCR-ABL1 positive def: "A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. (DO)" [PMID:32239758 "DO"] synonym: "Chronic myelogenous leukemia, BCR/ABL positive" EXACT [] synonym: "chronic myelogenous leukemia, BCR-ABL positive" EXACT [] xref: EFO:0000339 xref: ICDO:9875/3 is_a: DOID:8552 ! chronic myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:46:45Z [Term] id: DOID:0081089 name: acute myeloid leukemia with mutated NPM1 def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. (DO)" [PMID:32609823 "DO"] xref: ICDO:9877/3 xref: NCI:C82431 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:48:00Z [Term] id: DOID:0081090 name: acute myeloid leukemia with biallelic mutation of CEBPA def: "An acute myeloid leukemia with double mutations of the CEBPA gene. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/ "DO"] xref: ICDO:9878/3 xref: NCI:C129782 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:49:05Z [Term] id: DOID:0081091 name: acute myeloid leukemia with mutated RUNX1 def: "An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. (DO)" [PMID:32871587 "DO"] xref: ICDO:9879/3 xref: NCI:C129786 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:50:12Z [Term] id: DOID:0081092 name: acute myeloid leukemia with myelodysplasia-related changes def: "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. (DO)" [PMID:32864703 "DO"] xref: ICDO:9895/3 xref: NCI:C7600 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:51:33Z [Term] id: DOID:0081093 name: acute myeloid leukemia with t(8;21); (q22; q22.1) def: "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. (DO)" [PMID:31004601 "DO", PMID:35502592 "DO"] synonym: "acute myeloid leukemia, t(8;21)(q22;q22)" EXACT [] synonym: "acute myeloid leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1" EXACT [] xref: ICDO:9896/3 xref: MONDO:0850492 xref: NCI:C9288 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:52:31Z [Term] id: DOID:0081094 name: acute myeloid leukemia with MLL rearrangement def: "An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. (DO)" [PMID:34964255 "DO"] synonym: "acute myeloid leukemia, 11q23 abnormalities" EXACT [] synonym: "acute myeloid leukemia with KMT2A/MLL rearrangement" EXACT [] xref: ICDO:9897/3 xref: MONDO:0100404 xref: NCI:C174129 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:53:30Z [Term] id: DOID:0081095 name: acute myeloid leukemia with mutated CEBPA def: "An acute myeloid leukemia with non-germline mutations of the CEBPA gene. (DO)" [https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/ "DO"] xref: ICDO:9861/3 xref: NCI:C82433 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:54:35Z [Term] id: DOID:0081096 name: acute myeloid leukemia with t(1;22)(p13;q13) def: "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. (DO)" [PMID:22469944 "DO"] synonym: "Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1" EXACT [] xref: ICDO:9911/3 xref: NCI:C82427 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:55:46Z [Term] id: DOID:0081097 name: Rafiq syndrome alt_id: DOID:9001597 def: "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. (DO)" [PMID:29908352 "DO"] synonym: "CDG2U" EXACT [] synonym: "MAN1B1-CDG" EXACT [] synonym: "MAN1B1-RELATED CONDITION" EXACT [] synonym: "MAN1B1-RELATED DISORDER" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 15" EXACT [] synonym: "MRT15" EXACT [] synonym: "RAFQS" EXACT [] xref: MIM:614202 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-02T22:56:56Z [Term] id: DOID:0081098 name: autosomal recessive intellectual developmental disorder 13 alt_id: DOID:9002559 alt_id: MIM:613192 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. (DO)" [PMID:22549410 "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 13" EXACT [] synonym: "INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "mental retardation, autosomal recessive 13" EXACT [] synonym: "MRT13" EXACT [] synonym: "TRAPPC9-RELATED CONDITION" EXACT [] xref: MESH:C567714 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-02T22:59:26Z [Term] id: DOID:0081099 name: neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies alt_id: DOID:9003083 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. (DO)" [PMID:30296593 "DO"] synonym: "ADAT3-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY-STRABISMUS SYNDROME" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 36" EXACT [] synonym: "MRT36" EXACT [] xref: MIM:615286 xref: NCI:C186789 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-02T23:04:16Z [Term] id: DOID:0081100 name: spastic paraplegia with deafness alt_id: DOID:9005350 alt_id: MIM:312910 def: "A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. (DO)" [PMID:27271711 "DO", PMID:3741213 "DO"] synonym: "familial spastic paraparesis and deafness" EXACT [] synonym: "spastic paraparesis and deafness" EXACT [] synonym: "spastic paraparesis-deafness syndrome" EXACT [] synonym: "Wells Jankovic Syndrome" EXACT [] xref: GARD:5555 xref: MESH:C536692 xref: ORDO:2815 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2022-07-27T16:59:17Z [Term] id: DOID:0081101 name: nonautoimmune hyperthyroidism alt_id: DOID:9004050 def: "A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. (DO)" [PMID:8964822 "DO"] synonym: "nonautoimmune hyperthyroidism, autosomal dominant" EXACT [] synonym: "nonautoimmune hyperthyroidism, congenital" EXACT [] synonym: "Toxic Thyroid Hyperplasia, Autosomal Dominant" EXACT [] xref: MESH:C563786 xref: MIM:609152 xref: MONDO:0012203 xref: ORDO:424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism created_by: mtutaj creation_date: 2022-07-27T17:19:09Z [Term] id: DOID:0081102 name: familial gestational hyperthyroidism alt_id: DOID:9000010 alt_id: MIM:603373 def: "A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. (DO)" [PMID:9267761 "DO"] xref: MESH:C566384 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism is_a: DOID:9004702 ! Pregnancy Complications created_by: mtutaj creation_date: 2022-07-27T18:18:46Z [Term] id: DOID:0081104 name: hot water epilepsy alt_id: DOID:9001217 def: "A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO", PMID:12558829 "DO"] synonym: "BATHING EPILEPSY" EXACT [] synonym: "hot water epilepsies" EXACT [] synonym: "WATER IMMERSION EPILEPSY" EXACT [] xref: MIM:PS613339 xref: ORDO:166412 is_a: DOID:2548 ! reflex epilepsy created_by: mtutaj creation_date: 2022-07-27T18:20:47Z [Term] id: DOID:0081105 name: keratosis palmoplantaris striata def: "A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. (DO)" [PMID:29934816 "DO"] xref: ORDO:50942 is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2022-07-27T18:28:22Z [Term] id: DOID:0081106 name: hot water epilepsy 1 alt_id: DOID:9004520 def: "A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO", PMID:12558829 "DO"] synonym: "HWE1" EXACT [] xref: MIM:613339 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081104 ! hot water epilepsy created_by: mtutaj creation_date: 2022-07-27T18:30:26Z [Term] id: DOID:0081107 name: hot water epilepsy 2 alt_id: DOID:9000000 def: "A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"] synonym: "HWE2" EXACT [] xref: MIM:613340 is_a: DOID:0081104 ! hot water epilepsy created_by: mtutaj creation_date: 2022-07-27T18:32:06Z [Term] id: DOID:0081108 name: keratosis palmoplantaris striata 1 alt_id: DOID:9005618 alt_id: MIM:148700 def: "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. (DO)" [PMID:29934816 "DO"] synonym: "DSG1-RELATED CONDITION" BROAD [] synonym: "keratoderma, palmoplantar striate form 1" EXACT [] synonym: "Keratoderma, Palmoplantar, Striate Form I" EXACT [] synonym: "Keratosis Palmoplantaris Striata I" EXACT [] synonym: "KPPS1" EXACT [] synonym: "PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE" EXACT [] synonym: "PPKS1" EXACT [] synonym: "SPPK1" EXACT [] synonym: "Striate palmoplantar keratoderma 1" EXACT [] synonym: "striate palmoplantar keratoderma I" EXACT [] xref: GARD:9172 xref: MESH:C536162 xref: ORDO:369999 xref: ORDO:370002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata created_by: mtutaj creation_date: 2022-07-27T18:33:41Z [Term] id: DOID:0081109 name: keratosis palmoplantaris striata 2 alt_id: DOID:9006504 alt_id: MIM:612908 def: "A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. (DO)" [PMID:10594734 "DO"] synonym: "Keratoderma, Palmoplantar, Striate Form II" EXACT [] synonym: "Keratosis Palmoplantaris Striata II" EXACT [] synonym: "KPPS2" EXACT [] synonym: "PPKS2" EXACT [] synonym: "SPPK2" EXACT [] synonym: "Striate Palmoplantar Keratoderma II" EXACT [] xref: MESH:C565102 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata created_by: mtutaj creation_date: 2022-07-27T18:35:52Z [Term] id: DOID:0081110 name: keratosis palmoplantaris striata 3 alt_id: DOID:9000001 def: "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)" [PMID:11982762 "DO"] synonym: "Keratosis Palmoplantaris Striata III" EXACT [] synonym: "KPPS3" EXACT [] synonym: "palmoplantar keratoderma, striate form 3" EXACT [] synonym: "palmoplantar keratoderma, striate form III" EXACT [] synonym: "PPKS3" EXACT [] synonym: "SPPK3" EXACT [] synonym: "striate palmoplantar keratoderma 3" EXACT [] synonym: "striate palmoplantar keratoderma III" EXACT [] xref: MESH:C536163 xref: MIM:607654 xref: MONDO:0011881 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata created_by: mtutaj creation_date: 2022-07-27T18:36:05Z [Term] id: DOID:0081111 name: osteosclerotic metaphyseal dysplasia alt_id: DOID:9000003 def: "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. (DO)" [PMID:18811698 "DO"] synonym: "LRRK1-RELATED CONDITION" EXACT [] synonym: "OSMD" EXACT [] xref: MIM:615198 xref: ORDO:500548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:4254 ! osteosclerosis is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-07-27T18:39:52Z [Term] id: DOID:0081112 name: Baraitser-Winter syndrome 1 alt_id: DOID:9004677 def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. (DO)" [PMID:29220674 "DO"] synonym: "ACTB-related bafopathy" BROAD [] synonym: "BRWS1" EXACT [] synonym: "cerebrooculofacial lymphatic syndrome" EXACT [] synonym: "COFLS" EXACT [] synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" EXACT [] xref: MESH:C565462 xref: MIM:243310 xref: MONDO:0009470 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060229 ! Baraitser-Winter syndrome created_by: mtutaj creation_date: 2022-07-27T18:42:41Z [Term] id: DOID:0081113 name: Baraitser-Winter syndrome 2 alt_id: DOID:9000005 def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. (DO)" [PMID:25052316 "DO"] synonym: "ACTG1-RELATED CONDITION" BROAD [] synonym: "ACTG1-RELATED DISORDER" BROAD [] synonym: "BRWS2" EXACT [] xref: MIM:614583 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060229 ! Baraitser-Winter syndrome created_by: mtutaj creation_date: 2022-07-27T18:44:37Z [Term] id: DOID:0081114 name: benign familial infantile seizures 1 alt_id: DOID:9000650 def: "A benign familial infantile epilepsy 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 and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. (DO)" [PMID:9339675 "DO"] synonym: "benign familial infantile convulsions 1" EXACT [] synonym: "BFIC1" EXACT [] synonym: "BFIS1" EXACT [] xref: MIM:601764 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:23Z [Term] id: DOID:0081115 name: benign familial infantile seizures 2 alt_id: DOID:9000007 def: "A benign familial infantile epilepsy 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 and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. (DO)" [PMID:18479385 "DO"] synonym: "Benign Familial Infantile Convulsions 2" EXACT [] synonym: "BFIC2" EXACT [] synonym: "BFIS2" EXACT [] xref: MESH:C565296 xref: MIM:605751 xref: MONDO:0011593 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:34Z [Term] id: DOID:0081116 name: benign familial infantile seizures 3 alt_id: DOID:9005759 def: "A benign familial infantile epilepsy 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 and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. (DO)" [PMID:11094099 "DO"] synonym: "benign familial infantile convulsions 3" EXACT [] synonym: "benign familial neonatal convulsions 3" EXACT [] synonym: "benign familial neonatal-infantile seizures" EXACT [] synonym: "benign neonatal epilepsy, 3" EXACT [] synonym: "BFIC3" EXACT [] synonym: "BFIS3" EXACT [] synonym: "SCN2A-related disorder" BROAD [] xref: MESH:C564274 xref: MIM:607745 xref: MONDO:0011904 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:45Z [Term] id: DOID:0081117 name: benign familial infantile seizures 4 alt_id: DOID:9007125 def: "A benign familial infantile epilepsy 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 and that has_material_basis_in an association on chromosome 1p36.12-p35.1. (DO)" [PMID:18811698 "DO"] synonym: "benign familial infantile convulsions, 4" EXACT [] synonym: "BFIC4" EXACT [] synonym: "BFIS4" EXACT [] xref: MESH:C567231 xref: MIM:612627 xref: MONDO:0012965 is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:58Z [Term] id: DOID:0081118 name: benign familial infantile seizures 5 alt_id: DOID:9003651 def: "A benign familial infantile epilepsy 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 and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. (DO)" [PMID:23086396 "DO"] synonym: "benign familial infantile convulsions 5" EXACT [] synonym: "BFIC5" EXACT [] synonym: "BFIS5" EXACT [] xref: MIM:617080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:47:08Z [Term] id: DOID:0081120 name: Graves ophthalmopathy alt_id: DOID:9000008 def: "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. (DO)" [https://en.wikipedia.org/wiki/Graves%27_ophthalmopathy "DO"] synonym: "Congestive Ophthalmopathies" EXACT [] synonym: "Congestive Ophthalmopathy" EXACT [] synonym: "Dysthyroid Ophthalmopathies" EXACT [] synonym: "Dysthyroid Ophthalmopathy" EXACT [] synonym: "Edematous Ophthalmopathies" EXACT [] synonym: "Edematous Ophthalmopathy" EXACT [] synonym: "Graves' Orbitopathy" NARROW [] synonym: "Infiltrative Ophthalmopathies" EXACT [] synonym: "Infiltrative Ophthalmopathy" EXACT [] synonym: "Myopathic Ophthalmopathies" EXACT [] synonym: "Myopathic Ophthalmopathy" EXACT [] synonym: "Thyroid Associated Ophthalmopathies" EXACT [] synonym: "Thyroid Associated Ophthalmopathy" EXACT [] synonym: "Thyroid-Associated Orbitopathy" NARROW [] synonym: "Thyroid Eye Disease" EXACT [] xref: MESH:D049970 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:12361 ! Graves' disease is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2022-07-27T19:07:21Z [Term] id: DOID:0081121 name: inclusion body myopathy and brain white matter abnormalities alt_id: DOID:9000013 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)" [PMID:34048612 "DO"] synonym: "ANXA11-related condition" BROAD [] synonym: "IBMWMA" EXACT [] synonym: "MSP6" EXACT [] synonym: "multisystem proteinopathy 6" EXACT [] xref: MIM:619733 xref: MONDO:0850514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia is_a: DOID:9002704 ! Leukoencephalopathies created_by: slaulede creation_date: 2022-03-18T19:11:23Z [Term] id: DOID:0081122 name: Catel Manzke syndrome alt_id: DOID:9000014 def: "A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)" [PMID:18501694 "DO"] synonym: "CATMANS" EXACT [] synonym: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [] synonym: "Index Finger Anomaly With Pierre Robin Syndrome" EXACT [] synonym: "MICROGNATHIA DIGITAL SYNDROME" EXACT [] synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT [] synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" EXACT [] synonym: "TGDS-RELATED CONDITION" EXACT [] xref: GARD:28 xref: MESH:C535347 xref: MIM:616145 xref: ORDO:1388 is_a: DOID:0080001 ! bone disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2022-07-27T20:42:14Z [Term] id: DOID:0081123 name: X-linked mental retardation Gustavson type alt_id: DOID:9000015 def: "A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26. (DO)" [PMID:37277488 "DO"] synonym: "GUST" EXACT [] synonym: "Gustavson syndrome" EXACT [] synonym: "Gustavson type of X-linked syndromic intellectual developmental disorder" EXACT [] synonym: "intellectual developmental disorder with optic atrophy, deafness, and seizures" EXACT [] synonym: "intellectual developmental disorder, X-linked syndromic, Gustavson type" EXACT [] synonym: "Mental retardation with optic atrophy, deafness, and seizures" EXACT [] synonym: "Mental retardation X-linked severe Gustavson type" EXACT [] synonym: "MRXSG" EXACT [] xref: GARD:5611 xref: MESH:C536759 xref: MIM:309555 xref: MONDO:0010661 xref: ORDO:3078 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:5723 ! optic atrophy is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2022-07-27T20:46:12Z [Term] id: DOID:0081124 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. (DO)" [PMID:24194475 "DO"] synonym: "CFSMR1" EXACT [] xref: MIM:213980 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome created_by: mtutaj creation_date: 2022-07-27T20:49:19Z [Term] id: DOID:0081125 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. (DO)" [PMID:24194475 "DO"] synonym: "CFSMR2" EXACT [] xref: MIM:616994 is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome created_by: mtutaj creation_date: 2022-07-27T20:49:31Z [Term] id: DOID:0081126 name: DeSanto-Shinawi syndrome alt_id: DOID:9006965 def: "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC9034681/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK465012/ "DO", PMID:26264232 "DO"] synonym: "chromosome 10p12-p11 deletion syndrome" NARROW [] synonym: "DESSH" EXACT [] synonym: "developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities" EXACT [] synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" EXACT [] synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT [] synonym: "WAC-RELATED CONDITION" EXACT [] synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [] xref: MIM:616708 xref: ORDO:284169 xref: ORDO:466943 xref: ORDO:466950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-08-29T13:07:21Z [Term] id: DOID:0081127 name: mandibuloacral dysplasia def: "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. (DO)" [https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/ "DO", https://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/ "DO", PMID:29208544 "DO"] synonym: "GARD:11893" EXACT [] synonym: "MIM:PS248370" EXACT [] synonym: "ORDO:2457" EXACT [] is_a: DOID:0080006 ! bone development disease created_by: mtutaj creation_date: 2022-08-29T13:10:08Z [Term] id: DOID:0081128 name: mandibuloacral dysplasia type A lipodystrophy alt_id: DOID:9003444 def: "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. (DO)" [PMID:19764019 "DO"] synonym: "Craniomandibular Dermatodysostosis" EXACT [] synonym: "CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL" NARROW [] synonym: "lipodystrophy type A associated with mandibuloacral dysplasia" EXACT [] synonym: "MADA" EXACT [] synonym: "mandibuloacral dysostosis" NARROW [] synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [] synonym: "mandibuloacral dysplasia with type A lipodystrophy, atypical" EXACT [] xref: GARD:3374 xref: MESH:C535705 xref: MIM:248370 xref: MONDO:0009557 xref: NCI:C123417 xref: ORDO:90153 is_a: DOID:0081127 ! mandibuloacral dysplasia is_a: DOID:811 ! lipodystrophy is_a: DOID:9001402 ! Acro-Osteolysis created_by: mtutaj creation_date: 2022-08-29T13:14:01Z [Term] id: DOID:0081129 name: mandibuloacral dysplasia type B lipodystrophy alt_id: DOID:9004388 alt_id: MIM:608612 def: "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. (DO)" [PMID:11836320 "DO"] synonym: "lipodystrophy type B associated with mandibuloacral dysplasia" EXACT [] synonym: "MADB" EXACT [] synonym: "Mandibuloacral Dysplasia with Type B Lipodystrophy" EXACT [] synonym: "ZMPSTE24-RELATED CONDITION" BROAD [] synonym: "ZMPSTE24-related disorder" BROAD [] xref: MESH:C535706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081127 ! mandibuloacral dysplasia is_a: DOID:811 ! lipodystrophy is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-08-29T13:17:32Z [Term] id: DOID:0081130 name: BH4-deficient hyperphenylalaninemia C alt_id: DOID:9002203 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. (DO)" [PMID:11388593 "DO"] synonym: "DHPR DEFICIENCY" EXACT [] synonym: "DIHYDROPTERIDINE REDUCTASE DEFICIENCY" EXACT [] synonym: "Dihydropteridine Reductase Deficiency Disease" EXACT [] synonym: "HPABH4C" EXACT [] synonym: "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY" EXACT [] synonym: "QDPR DEFICIENCY" EXACT [] synonym: "QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY" EXACT [] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [] xref: MIM:261630 xref: NCI:C138173 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria created_by: mtutaj creation_date: 2022-08-29T13:19:11Z [Term] id: DOID:0081131 name: BH4-deficient hyperphenylalaninemia D alt_id: DOID:9000344 alt_id: MIM:264070 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. (DO)" [PMID:24204001 "DO"] synonym: "CADH DEFICIENCY" EXACT [] synonym: "HPABH4D" EXACT [] synonym: "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY" EXACT [] synonym: "Hyperphenylalaninemia with Primapterinuria" EXACT [] synonym: "PCBD DEFICIENCY" EXACT [] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [] xref: GARD:2843 xref: MESH:C538382 xref: ORDO:1578 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria created_by: mtutaj creation_date: 2022-08-29T13:20:21Z [Term] id: DOID:0081132 name: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia def: "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. (DO)" [https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/ "DO", PMID:11388593 "DO"] xref: GARD:7751 xref: ORDO:238583 is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2022-08-29T13:20:47Z [Term] id: DOID:0081133 name: 3-methylglutaconic aciduria type 7a def: "A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. (DO)" [PMID:34140661 "DO"] synonym: "3-methylglutaconic aciduria, type VIIA" EXACT [] synonym: "3-methylglutaconic aciduria type VIIA, autosomal dominant" EXACT [] synonym: "MGCA7A" EXACT [] xref: MIM:619835 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia created_by: mtutaj creation_date: 2022-08-29T13:26:56Z [Term] id: DOID:0081134 name: 3-methylglutaconic aciduria type 7b def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (DO)" [PMID:25597510 "DO", PMID:25597511 "DO"] synonym: "3-methylglutaconic aciduria, type VIIB" EXACT [] synonym: "3-methylglutaconic aciduria, type VIIB, autosomal recessive" EXACT [] synonym: "MGCA7B" EXACT [] xref: MIM:616271 xref: MONDO:0014561 is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia created_by: mtutaj creation_date: 2022-08-29T13:32:10Z [Term] id: DOID:0081135 name: agammaglobulinemia 2 alt_id: DOID:9001787 def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. (DO)" [PMID:32384040 "DO"] synonym: "Agammaglobulinemia 2, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT" EXACT [] synonym: "AGM2" EXACT [] xref: MIM:613500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:35:38Z [Term] id: DOID:0081136 name: agammaglobulinemia 1 alt_id: DOID:9001819 def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. (DO)" [PMID:32384040 "DO"] synonym: "Agammaglobulinemia 1, Autosomal Recessive" EXACT [] synonym: "AGM1" EXACT [] synonym: "autosomal recessive agammaglobulinemia due to IGHM defect" EXACT [] xref: MIM:601495 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:37:37Z [Term] id: DOID:0081137 name: agammaglobulinemia 3 alt_id: DOID:9009084 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. (DO)" [PMID:32384040 "DO"] synonym: "Agammaglobulinemia 3, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT" EXACT [] synonym: "AGM3" EXACT [] synonym: "CD79A-RELATED CONDITION" EXACT [] xref: MIM:613501 xref: MONDO:0013288 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:38:59Z [Term] id: DOID:0081138 name: agammaglobulinemia 6 alt_id: DOID:9001357 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. (DO)" [PMID:32384040 "DO"] synonym: "Agammaglobulinemia 6, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT" EXACT [] synonym: "AGM6" EXACT [] xref: MIM:612692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:40:39Z [Term] id: DOID:0081139 name: agammaglobulinemia 7 alt_id: DOID:9008850 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [PMID:32384040 "DO"] synonym: "Agammaglobulinemia 7, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT" EXACT [] synonym: "AGM7" EXACT [] xref: MIM:615214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:42:10Z [Term] id: DOID:0081140 name: agammaglobulinemia 8A def: "An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. (DO)" [PMID:32384040 "DO"] synonym: "agammaglobulinemia 8A, autosomal dominant" EXACT [] synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [] synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" EXACT [] synonym: "AGM8A" EXACT [] xref: MIM:616941 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008152 ! Agammaglobulinemia 8 created_by: mtutaj creation_date: 2022-08-29T13:45:04Z [Term] id: DOID:0081141 name: agammaglobulinemia 9 alt_id: DOID:9008336 def: "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. (DO)" [PMID:32384040 "DO"] synonym: "Agammaglobulinemia 9, Autosomal Recessive" EXACT [] synonym: "agammaglobulinemia, autosomal recessive, due to SLC39A7 defect" EXACT [] synonym: "AGM9" EXACT [] synonym: "SLC39A7-RELATED CONDITION" EXACT [] xref: MIM:619693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:48:09Z [Term] id: DOID:0081142 name: agammaglobulinemia 10 alt_id: DOID:9001108 def: "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. (DO)" [PMID:32384040 "DO"] synonym: "agammaglobulinemia 10, autosomal dominant" EXACT [] synonym: "agammaglobulinemia, autosomal dominant, due to SPI1 defect" EXACT [] synonym: "AGM10" EXACT [] xref: MIM:619707 xref: MONDO:0030529 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:49:49Z [Term] id: DOID:0081143 name: agammaglobulinemia 8B def: "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. (DO)" [PMID:32384040 "DO"] synonym: "agammaglobulinemia 8B, autosomal recessive" EXACT [] synonym: "agammaglobulinemia, autosomal recessive, due to TCF3 defect" EXACT [] synonym: "AGM8B" EXACT [] xref: MIM:619824 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008152 ! Agammaglobulinemia 8 created_by: mtutaj creation_date: 2022-08-29T13:51:24Z [Term] id: DOID:0081144 name: common variable immunodeficiency 1 alt_id: DOID:9002425 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. (DO)" [PMID:19426217 "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO ICOS DEFECT" EXACT [] synonym: "CVID1" EXACT [] xref: MIM:607594 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:54:26Z [Term] id: DOID:0081145 name: common variable immunodeficiency 2 alt_id: DOID:9007351 def: "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. (DO)" [PMID:16007087 "DO"] synonym: "antibody deficiency due to TACI defect" EXACT [] synonym: "CVID2" EXACT [] synonym: "HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY" EXACT [] xref: MIM:240500 xref: MONDO:0009413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:56:38Z [Term] id: DOID:0081146 name: common variable immunodeficiency 3 alt_id: DOID:9002442 def: "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. (DO)" [PMID:16672701 "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO CD19 DEFECT" EXACT [] synonym: "CD19-RELATED CONDITION" EXACT [] synonym: "CVID3" EXACT [] xref: MIM:613493 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:57:45Z [Term] id: DOID:0081147 name: common variable immunodeficiency 4 alt_id: DOID:9001886 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. (DO)" [PMID:19666484 "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT" EXACT [] synonym: "CVID4" EXACT [] xref: MIM:613494 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:58:51Z [Term] id: DOID:0081148 name: common variable immunodeficiency 5 alt_id: DOID:9001688 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. (DO)" [PMID:20038800 "DO"] synonym: "antibody deficiency due to CD20 defect" EXACT [] synonym: "CVID5" EXACT [] synonym: "MS4A1-RELATED CONDITION" EXACT [] xref: MIM:613495 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:59:54Z [Term] id: DOID:0081149 name: common variable immunodeficiency 6 alt_id: DOID:9002131 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. (DO)" [PMID:20237408 "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO CD81 DEFECT" EXACT [] synonym: "CD81-RELATED CONDITION" EXACT [] synonym: "CVID6" EXACT [] xref: MIM:613496 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:01:01Z [Term] id: DOID:0081150 name: common variable immunodeficiency 7 alt_id: DOID:9008846 def: "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. (DO)" [PMID:22035880 "DO"] synonym: "CR2-related condition" BROAD [] synonym: "CVID7" EXACT [] xref: MIM:614699 xref: MONDO:0013862 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:02:03Z [Term] id: DOID:0081151 name: common variable immunodeficiency 8 alt_id: DOID:9003811 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. (DO)" [PMID:25468195 "DO"] synonym: "common variable immunodeficiency-8 (CVID8) with autoimmunity" EXACT [] synonym: "Common Variable Immunodeficiency 8, with Autoimmunity" EXACT [] synonym: "CVID8" EXACT [] xref: MIM:614700 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:03:20Z [Term] id: DOID:0081152 name: common variable immunodeficiency 10 alt_id: DOID:9000689 def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)" [PMID:24140114 "DO"] synonym: "common variable immunodeficiency with central adrenal insufficiency" EXACT [] synonym: "CVID10" EXACT [] synonym: "DAVID" EXACT [] synonym: "deficit in anterior pituitary function and variable immunodeficiency" EXACT [] synonym: "NFKB2-RELATED DISORDER" EXACT [] xref: MIM:615577 xref: MONDO:0014260 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:04:28Z [Term] id: DOID:0081153 name: common variable immunodeficiency 11 alt_id: DOID:9005947 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. (DO)" [PMID:24746753 "DO"] synonym: "CVID11" EXACT [] xref: MIM:615767 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:05:42Z [Term] id: DOID:0081154 name: common variable immunodeficiency 12 alt_id: DOID:9008356 def: "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. (DO)" [PMID:32278790 "DO"] synonym: "CVID12" EXACT [] synonym: "NFKB1 deficiency" EXACT [] synonym: "NFKB1-RELATED CONDITION" EXACT [] xref: MIM:616576 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:06:36Z [Term] id: DOID:0081155 name: common variable immunodeficiency 13 alt_id: DOID:9008141 def: "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. (DO)" [PMID:26981933 "DO"] synonym: "CVID13" EXACT [] synonym: "IKZF1-RELATED CONDITION" EXACT [] xref: MIM:616873 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:07:48Z [Term] id: DOID:0081156 name: common variable immunodeficiency 14 alt_id: DOID:9009071 def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. (DO)" [PMID:27016798 "DO"] synonym: "CVID14" EXACT [] synonym: "IRF2BP2-RELATED CONDITION" EXACT [] xref: MIM:617765 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:09:01Z [Term] id: DOID:0081157 name: dilated cardiomyopathy 1LL alt_id: DOID:9000215 alt_id: DOID:9008472 def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)" [PMID:23768516 "DO"] synonym: "CMD1LL" EXACT [] synonym: "Left Ventricular Noncompaction 8" RELATED [] synonym: "LVNC8" RELATED [] synonym: "PRDM16-RELATED CONDITION" EXACT [] synonym: "PRDM16-RELATED CONGENITAL HEART DISEASE" EXACT [] xref: MIM:615373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000497 ! Dilated Cardiomyopathy with Left Ventricular Noncompaction created_by: mtutaj creation_date: 2022-08-29T14:11:15Z [Term] id: DOID:0081158 name: dilated cardiomyopathy 1MM alt_id: DOID:9008209 def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. (DO)" [PMID:21551322 "DO"] synonym: "CMD1MM" EXACT [] synonym: "Left Ventricular Noncompaction 10" EXACT [] synonym: "LVNC10" EXACT [] synonym: "MYBPC3-RELATED CONDITION" BROAD [] xref: MIM:615396 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000497 ! Dilated Cardiomyopathy with Left Ventricular Noncompaction created_by: mtutaj creation_date: 2022-08-29T14:15:51Z [Term] id: DOID:0081159 name: dilated cardiomyopathy 2C alt_id: DOID:9006747 def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)" [PMID:29754768 "DO"] synonym: "CMD2C" EXACT [] synonym: "PPCS-RELATED CONDITION" EXACT [] xref: MIM:618189 xref: MONDO:0032592 xref: NCI:C186785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:21:35Z [Term] id: DOID:0081160 name: dilated cardiomyopathy 2D alt_id: DOID:9003609 def: "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. (DO)" [PMID:32514796 "DO"] synonym: "CMD2D" EXACT [] xref: MIM:619371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:23:17Z [Term] id: DOID:0081161 name: dilated cardiomyopathy 2E alt_id: DOID:9006126 def: "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. (DO)" [PMID:30384889 "DO", PMID:31227780 "DO"] synonym: "CMD2E" EXACT [] synonym: "JPH2-RELATED CONDITION" BROAD [] xref: MIM:619492 xref: MONDO:0030366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:24:29Z [Term] id: DOID:0081162 name: dilated cardiomyopathy 2F alt_id: DOID:9000042 def: "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. (DO)" [PMID:35044787 "DO"] synonym: "CMD2F" EXACT [] xref: MIM:619747 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:25:26Z [Term] id: DOID:0081163 name: dilated cardiomyopathy 2G alt_id: DOID:9002218 def: "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. (DO)" [PMID:31517052 "DO"] synonym: "CMD2G" EXACT [] synonym: "LMOD2-RELATED CONDITION" EXACT [] xref: MIM:619897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:26:39Z [Term] id: DOID:0081168 name: HMG-CoA synthase 2 deficiency alt_id: DOID:9003547 def: "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC5979369/ "DO", PMID:16601895 "DO"] synonym: "3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency" EXACT [] synonym: "HMGCS2D" EXACT [] synonym: "HMGCS2 Deficiency" EXACT [] synonym: "HMGCS2-related condition" BROAD [] synonym: "MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY" EXACT [] synonym: "Mitochondrial HMG-CoA Synthase Deficiency" EXACT [] xref: GARD:2712 xref: MESH:C567784 xref: MIM:605911 xref: MONDO:0011614 xref: ORDO:35701 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9993 ! hypoglycemia created_by: mtutaj creation_date: 2022-08-29T14:34:21Z [Term] id: DOID:0081169 name: Leber congenital amaurosis 19 alt_id: DOID:9008659 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. (DO)" [PMID:3057356 "DO"] synonym: "LCA19" EXACT [] xref: MIM:618513 is_a: DOID:14791 ! Leber congenital amaurosis created_by: mtutaj creation_date: 2022-08-29T14:37:11Z [Term] id: DOID:0081175 name: short stature, hearing loss, retinitis pigmentosa, and distinctive facies alt_id: DOID:9009102 def: "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. (DO)" [PMID:26843489 "DO", PMID:34162742 "DO"] synonym: "EXOSC2-RELATED CONDITION" EXACT [] synonym: "SHRF" EXACT [] xref: MIM:617763 xref: ORDO:494439 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2022-08-29T14:39:09Z [Term] id: DOID:0081176 name: hypotonia, ataxia, and delayed development syndrome alt_id: DOID:9003925 def: "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK570204/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/ "DO", PMID:28017370 "DO", PMID:34367240 "DO"] synonym: "EBF3-RELATED CONDITION" EXACT [] synonym: "EBF3-RELATED DISORDER" EXACT [] synonym: "HADDS" EXACT [] xref: MIM:617330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-08-29T14:40:58Z [Term] id: DOID:0081177 name: autosomal recessive intellectual developmental disorder 1 alt_id: DOID:9008608 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. (DO)" [PMID:12459588 "DO"] synonym: "intellectual disability, autosomal recessive 1" EXACT [] synonym: "mental retardation, autosomal recessive 1" EXACT [] synonym: "MRT1" EXACT [] synonym: "PRSS12-related condition" BROAD [] xref: MESH:C565406 xref: MIM:249500 xref: MONDO:0081177 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:42:55Z [Term] id: DOID:0081178 name: autosomal recessive intellectual developmental disorder 2 alt_id: DOID:9008771 alt_id: MIM:607417 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. (DO)" [PMID:28143899 "DO"] synonym: "CRBN-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 2" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 2A" EXACT [] synonym: "MRT2" EXACT [] synonym: "MRT2A" EXACT [] xref: MESH:C564404 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:45:28Z [Term] id: DOID:0081179 name: autosomal recessive intellectual developmental disorder 3 alt_id: DOID:9003376 alt_id: MIM:608443 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. (DO)" [PMID:16033914 "DO"] synonym: "CC2D1A-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 3" EXACT [] synonym: "mental retardation, autosomal recessive 3" EXACT [] synonym: "MRT3" EXACT [] xref: MESH:C563929 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:46:38Z [Term] id: DOID:0081180 name: autosomal recessive intellectual developmental disorder 12 alt_id: DOID:9007060 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)" [PMID:32666583 "DO"] synonym: "intellectual disability, autosomal recessive 12" EXACT [] synonym: "mental retardation, autosomal recessive 12" EXACT [] synonym: "MRT12" EXACT [] synonym: "ST3GAL3-related condition" BROAD [] xref: MESH:C567019 xref: MIM:611090 xref: MONDO:0012612 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:48:08Z [Term] id: DOID:0081181 name: autosomal recessive intellectual developmental disorder 5 alt_id: DOID:9000480 alt_id: MIM:611091 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. (DO)" [PMID:22541559 "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 5" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 5" EXACT [] synonym: "MRT5" EXACT [] synonym: "NSUN2-RELATED CONDITION" EXACT [] xref: MESH:C567018 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:49:21Z [Term] id: DOID:0081182 name: autosomal recessive intellectual developmental disorder 6 alt_id: DOID:9001405 alt_id: MIM:611092 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. (DO)" [PMID:25039795 "DO"] synonym: "GRIK2-RELATED CONDITION" BROAD [] synonym: "Mental Retardation, Autosomal Recessive 6" EXACT [] synonym: "MRT6" EXACT [] xref: MESH:C567017 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:50:24Z [Term] id: DOID:0081183 name: autosomal recessive intellectual developmental disorder 7 alt_id: DOID:9008725 alt_id: MIM:611093 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. (DO)" [PMID:27148795 "DO"] synonym: "intellectual developmental disorder 22" EXACT [] synonym: "mental retardation, autosomal recessive 22" EXACT [] synonym: "mental retardation, autosomal recessive 7" EXACT [] synonym: "MRT22" EXACT [] synonym: "MRT7" EXACT [] synonym: "TUSC3-RELATED CONDITION" EXACT [] xref: MESH:C567016 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:51:22Z [Term] id: DOID:0081184 name: autosomal recessive intellectual developmental disorder 9/26 alt_id: DOID:9007034 alt_id: MIM:611095 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. (DO)" [PMID:21629298 "DO"] synonym: "intellectual developmental disorder, autosomal recessive 26" EXACT [] synonym: "Intellectual Developmental Disorder, Autosomal Recessive 9" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26" EXACT [] synonym: "mental retardation, autosomal recessive 9" EXACT [] synonym: "MRT26" EXACT [] synonym: "MRT9" EXACT [] xref: MESH:C567014 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:52:46Z [Term] id: DOID:0081185 name: autosomal recessive intellectual developmental disorder 10/20 alt_id: DOID:9001021 alt_id: MIM:611096 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. (DO)" [PMID:21629298 "DO"] synonym: "Intellectual Developmental Disorder, Autosomal Recessive 10" EXACT [] synonym: "intellectual developmental disorder, autosomal recessive 20" EXACT [] synonym: "mental retardation, autosomal recessive 10" EXACT [] synonym: "mental retardation, autosomal recessive 20" EXACT [] synonym: "MRT10" EXACT [] synonym: "MRT20" EXACT [] xref: MESH:C567013 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:54:41Z [Term] id: DOID:0081186 name: autosomal recessive intellectual developmental disorder 11 alt_id: DOID:9004731 alt_id: MIM:611097 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. (DO)" [PMID:21063731 "DO"] synonym: "Mental Retardation, Autosomal Recessive 11" EXACT [] synonym: "MRT11" EXACT [] xref: MESH:C567012 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:55:54Z [Term] id: DOID:0081187 name: autosomal recessive intellectual developmental disorder 4 alt_id: DOID:9004517 alt_id: MIM:611107 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. (DO)" [PMID:17309643 "DO"] synonym: "mental retardation, autosomal recessive 4" EXACT [] synonym: "MRT4" EXACT [] xref: MESH:C567008 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:56:55Z [Term] id: DOID:0081188 name: autosomal recessive intellectual developmental disorder 14 alt_id: DOID:9006531 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. (DO)" [PMID:18446860 "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 14" EXACT [] synonym: "mental retardation, autosomal recessive 14" EXACT [] synonym: "MRT14" EXACT [] synonym: "TECR-RELATED CONDITION" EXACT [] xref: MIM:614020 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:58:02Z [Term] id: DOID:0081189 name: autosomal recessive intellectual developmental disorder 16 alt_id: DOID:9006389 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. (DO)" [PMID:20345473 "DO"] synonym: "mental retardation, autosomal recessive 16" EXACT [] synonym: "MRT16" EXACT [] xref: MIM:614208 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:59:05Z [Term] id: DOID:0081190 name: autosomal recessive intellectual developmental disorder 18 alt_id: DOID:9003792 def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. (DO)" [PMID:25845469 "DO"] synonym: "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 18" EXACT [] synonym: "MED23-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 18" EXACT [] synonym: "MRT18" EXACT [] xref: MIM:614249 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:00:36Z [Term] id: DOID:0081191 name: autosomal recessive intellectual developmental disorder 31 alt_id: DOID:9000969 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. (DO)" [PMID:21063731 "DO"] synonym: "mental retardation, autosomal recessive 31" EXACT [] synonym: "MRT31" EXACT [] xref: MIM:614329 xref: MONDO:0013694 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:01:33Z [Term] id: DOID:0081192 name: autosomal recessive intellectual developmental disorder 29 alt_id: DOID:9007545 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. (DO)" [PMID:21063731 "DO"] synonym: "mental retardation, autosomal recessive 29" EXACT [] synonym: "MRT29" EXACT [] xref: MIM:614333 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:02:30Z [Term] id: DOID:0081193 name: autosomal recessive intellectual developmental disorder 27 alt_id: DOID:9004788 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. (DO)" [PMID:23773660 "DO"] synonym: "LINS1-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 27" EXACT [] synonym: "MRT27" EXACT [] xref: MIM:614340 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:04:08Z [Term] id: DOID:0081194 name: autosomal recessive intellectual developmental disorder 33 alt_id: DOID:9001853 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. (DO)" [PMID:21063731 "DO"] synonym: "Mental Retardation, Autosomal Recessive 33" EXACT [] synonym: "MRT33" EXACT [] xref: MIM:614341 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:05:17Z [Term] id: DOID:0081195 name: autosomal recessive intellectual developmental disorder 30 alt_id: DOID:9005012 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. (DO)" [PMID:21629298 "DO"] synonym: "mental retardation, autosomal recessive 30" EXACT [] synonym: "MRT30" EXACT [] xref: MIM:614342 xref: MONDO:0013704 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:06:09Z [Term] id: DOID:0081196 name: autosomal recessive intellectual developmental disorder 23 alt_id: DOID:9003500 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. (DO)" [PMID:21629298 "DO"] synonym: "mental retardation, autosomal recessive 23" EXACT [] synonym: "MRT23" EXACT [] xref: MIM:614344 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:07:08Z [Term] id: DOID:0081197 name: autosomal recessive intellectual developmental disorder 24 alt_id: DOID:9006322 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. (DO)" [PMID:21629298 "DO"] synonym: "mental retardation, autosomal recessive 24" EXACT [] synonym: "MRT24" EXACT [] xref: MIM:614345 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:07:57Z [Term] id: DOID:0081198 name: autosomal recessive intellectual developmental disorder 25 alt_id: DOID:9002478 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. (DO)" [PMID:21629298 "DO"] synonym: "mental retardation, autosomal recessive 25" EXACT [] synonym: "MRT25" EXACT [] xref: MIM:614346 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:09:08Z [Term] id: DOID:0081199 name: autosomal recessive intellectual developmental disorder 28 alt_id: DOID:9006558 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. (DO)" [PMID:21629298 "DO"] synonym: "mental retardation, autosomal recessive 28" EXACT [] synonym: "MRT28" EXACT [] xref: MIM:614347 xref: MONDO:0032665 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:09:58Z [Term] id: DOID:0081200 name: autosomal recessive intellectual developmental disorder 34 alt_id: DOID:9003186 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. (DO)" [PMID:27773430 "DO"] synonym: "autosomal recessive intellectual developmental disorder 34 with variant lissencephaly" EXACT [] synonym: "autosomal recessive mental retardation 34 with variant lissencephaly" EXACT [] synonym: "CRADD-RELATED CONDITION" EXACT [] synonym: "MRT34" EXACT [] xref: MIM:614499 xref: NCI:C153179 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:26:42Z [Term] id: DOID:0081201 name: autosomal recessive intellectual developmental disorder 35 alt_id: DOID:9002452 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. (DO)" [PMID:20950399 "DO"] synonym: "Mental Retardation, Autosomal Recessive 35" EXACT [] synonym: "MRT35" EXACT [] xref: MIM:615162 xref: MONDO:0014067 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:29:51Z [Term] id: DOID:0081202 name: autosomal recessive intellectual developmental disorder 37 alt_id: DOID:9006993 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. (DO)" [PMID:29302074 "DO"] synonym: "ANK3-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY-HYPOTONIA-SPASTICITY-SLEEP DISORDER SYNDROME" EXACT [] synonym: "mental retardation, autosomal recessive 37" EXACT [] synonym: "MRT37" EXACT [] xref: MIM:615493 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:30:49Z [Term] id: DOID:0081203 name: autosomal recessive intellectual developmental disorder 38 alt_id: DOID:9007435 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. (DO)" [PMID:23243086 "DO"] synonym: "HERC2-RELATED CONDITION" BROAD [] synonym: "Mental Retardation, Autosomal Recessive 38" EXACT [] synonym: "MRT38" EXACT [] xref: MIM:615516 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:32:15Z [Term] id: DOID:0081204 name: autosomal recessive intellectual developmental disorder 39 alt_id: DOID:9007449 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. (DO)" [PMID:23956177 "DO"] synonym: "Mental Retardation, Autosomal Recessive 39" EXACT [] synonym: "MRT39" EXACT [] synonym: "SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "TTI2-RELATED CONDITION" EXACT [] xref: MIM:615541 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:33:08Z [Term] id: DOID:0081205 name: autosomal recessive intellectual developmental disorder 40 alt_id: DOID:9006330 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. (DO)" [PMID:34474177 "DO"] synonym: "Mental Retardation, Autosomal Recessive 40" EXACT [] synonym: "MRT40" EXACT [] synonym: "NEDFCF" EXACT [] synonym: "neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity" EXACT [] synonym: "TAF2-RELATED CONDITION" EXACT [] xref: MIM:615599 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:34:01Z [Term] id: DOID:0081206 name: autosomal recessive intellectual developmental disorder 41 alt_id: DOID:9007613 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. (DO)" [PMID:25847626 "DO"] synonym: "MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME" EXACT [] synonym: "mental retardation, autosomal recessive 41" EXACT [] synonym: "MRT41" EXACT [] xref: MIM:615637 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:34:53Z [Term] id: DOID:0081207 name: autosomal recessive intellectual developmental disorder 43 alt_id: DOID:9006908 def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. (DO)" [PMID:34599609 "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 43" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 43" EXACT [] synonym: "MRT43" EXACT [] synonym: "WASHC4-RELATED CONDITION" EXACT [] xref: MIM:615817 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:35:54Z [Term] id: DOID:0081208 name: autosomal recessive intellectual developmental disorder 44 alt_id: DOID:9006200 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. (DO)" [PMID:32439618 "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 44" EXACT [] synonym: "mental retardation, autosomal recessive 44" EXACT [] synonym: "METTL23-RELATED CONDITION" EXACT [] synonym: "MRT44" EXACT [] xref: MIM:615942 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:36:43Z [Term] id: DOID:0081209 name: autosomal recessive intellectual developmental disorder 45 alt_id: DOID:9000560 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. (DO)" [PMID:24623383 "DO"] synonym: "FBXO31-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 45" EXACT [] synonym: "mental retardation, autosomal recessive 45" EXACT [] synonym: "MRT45" EXACT [] xref: MIM:615979 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:37:39Z [Term] id: DOID:0081210 name: autosomal recessive intellectual developmental disorder 46 alt_id: DOID:9004558 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. (DO)" [PMID:25125150 "DO"] synonym: "intellectual disability, autosomal recessive 46" EXACT [] synonym: "mental retardation, autosomal recessive 46" EXACT [] synonym: "MRT46" EXACT [] synonym: "NDST1-RELATED CONDITION" EXACT [] xref: MIM:616116 xref: MONDO:0014499 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:38:31Z [Term] id: DOID:0081211 name: autosomal recessive intellectual developmental disorder 47 alt_id: DOID:9008226 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. (DO)" [PMID:25480035 "DO"] synonym: "FMN2-related condition" BROAD [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 47" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 47" EXACT [] synonym: "MRT47" EXACT [] xref: MIM:616193 xref: MONDO:0014524 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:39:18Z [Term] id: DOID:0081212 name: autosomal recessive intellectual developmental disorder 48 alt_id: DOID:9007512 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. (DO)" [PMID:25704603 "DO"] synonym: "mental retardation, autosomal recessive 48" EXACT [] synonym: "MRT48" EXACT [] synonym: "PROGRESSIVE ESSENTIAL TREMOR-SPEECH IMPAIRMENT-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-ABNORMAL BEHAVIOR SYNDROME" EXACT [] synonym: "SLC6A17-RELATED CONDITION" EXACT [] xref: MIM:616269 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:40:12Z [Term] id: DOID:0081213 name: autosomal recessive intellectual developmental disorder 50 alt_id: DOID:9001618 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. (DO)" [PMID:25701870 "DO"] synonym: "EDC3-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 50" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 50" EXACT [] synonym: "MRT50" EXACT [] xref: MIM:616460 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:41:05Z [Term] id: DOID:0081214 name: autosomal recessive intellectual developmental disorder 51 alt_id: DOID:9000167 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. (DO)" [PMID:26206890 "DO"] synonym: "HNMT-RELATED CONDITION" BROAD [] synonym: "Mental Retardation, Autosomal Recessive 51" EXACT [] synonym: "MRT51" EXACT [] xref: MIM:616739 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:42:03Z [Term] id: DOID:0081215 name: autosomal recessive intellectual developmental disorder 52 alt_id: DOID:9005239 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. (DO)" [PMID:26566883 "DO"] synonym: "intellectual disability, autosomal recessive 52" EXACT [] synonym: "mental retardation, autosomal recessive 52" EXACT [] synonym: "MRT52" EXACT [] xref: MIM:616887 xref: MONDO:0014815 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:42:53Z [Term] id: DOID:0081216 name: autosomal recessive intellectual developmental disorder 54 alt_id: DOID:9004737 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. (DO)" [PMID:27106596 "DO"] synonym: "intellectual developmental disorder 54" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 54" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 54" EXACT [] synonym: "MRT54" EXACT [] synonym: "TNIK-RELATED CONDITION" EXACT [] synonym: "TNK1-RELATED CONDITION" EXACT [] xref: MIM:617028 xref: MONDO:0014876 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:43:43Z [Term] id: DOID:0081217 name: autosomal recessive intellectual developmental disorder 56 alt_id: DOID:9004639 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. (DO)" [PMID:21734151 "DO"] synonym: "Mental Retardation, Autosomal Recessive 56" EXACT [] synonym: "MRT56" EXACT [] synonym: "ZC3H14-RELATED CONDITION" EXACT [] xref: MIM:617125 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:44:58Z [Term] id: DOID:0081218 name: autosomal recessive intellectual developmental disorder 74 def: "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. (DO)" [PMID:33161245 "DO"] synonym: "MRT74" EXACT [] xref: MIM:617169 xref: MONDO:0014951 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:45:51Z [Term] id: DOID:0081219 name: autosomal recessive intellectual developmental disorder 57 alt_id: DOID:9003051 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. (DO)" [PMID:27616480 "DO"] synonym: "MBOAT7-related condition" BROAD [] synonym: "Mental Retardation, Autosomal Recessive 57" EXACT [] synonym: "MRT57" EXACT [] xref: MIM:617188 xref: MONDO:0014962 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:49:20Z [Term] id: DOID:0081220 name: autosomal recessive intellectual developmental disorder 58 alt_id: DOID:9000513 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. (DO)" [PMID:33976153 "DO"] synonym: "ELP2-RELATED CONDITION" EXACT [] synonym: "ELP2-RELATED DISORDERS" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 58" EXACT [] synonym: "MRT58" EXACT [] xref: MIM:617270 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:50:20Z [Term] id: DOID:0081221 name: autosomal recessive intellectual developmental disorder 59 alt_id: DOID:9007035 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. (DO)" [PMID:26416544 "DO"] synonym: "IMPA1-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 59" EXACT [] synonym: "mental retardation, autosomal recessive 59" EXACT [] synonym: "MRT59" EXACT [] xref: MIM:617323 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:51:51Z [Term] id: DOID:0081222 name: autosomal recessive intellectual developmental disorder 60 alt_id: DOID:9005093 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. (DO)" [PMID:28257693 "DO"] synonym: "Mental Retardation, Autosomal Recessive 60" EXACT [] synonym: "MRT60" EXACT [] synonym: "TAF13-RELATED CONDITION" EXACT [] xref: MIM:617432 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:52:40Z [Term] id: DOID:0081223 name: glycosylphosphatidylinositol biosynthesis defect 16 alt_id: DOID:9009068 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. (DO)" [PMID:27694521 "DO"] synonym: "intellectual developmental disorder, autosomal recessive 62" EXACT [] synonym: "mental retardation, autosomal recessive 62" EXACT [] synonym: "MRT62" EXACT [] xref: MIM:617816 xref: MONDO:0040500 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2022-08-29T15:54:11Z [Term] id: DOID:0081224 name: autosomal recessive intellectual developmental disorder 63 alt_id: DOID:9009215 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)" [PMID:29784083 "DO"] synonym: "CAMK2A-RELATED CONDITION" BROAD [] synonym: "mental retardation, autosomal recessive 63" EXACT [] synonym: "MRT63" EXACT [] xref: MIM:618095 xref: MONDO:0054861 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:56:08Z [Term] id: DOID:0081225 name: autosomal recessive intellectual developmental disorder 64 alt_id: DOID:9009216 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. (DO)" [PMID:28837161 "DO"] synonym: "LINGO1-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 64" EXACT [] synonym: "MRT64" EXACT [] xref: MIM:618103 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:57:14Z [Term] id: DOID:0081226 name: autosomal recessive intellectual developmental disorder 65 alt_id: DOID:9004428 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. (DO)" [PMID:29276005 "DO"] synonym: "KDM5B-related condition" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 65" EXACT [] synonym: "MRT65" EXACT [] xref: MIM:618109 xref: MONDO:0020850 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:58:11Z [Term] id: DOID:0081227 name: autosomal recessive intellectual developmental disorder 66 alt_id: DOID:9009242 def: "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. (DO)" [PMID:27311568 "DO"] synonym: "mental retardation, autosomal recessive 66" EXACT [] synonym: "MRT66" EXACT [] xref: MIM:618221 xref: MONDO:0032605 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:59:06Z [Term] id: DOID:0081228 name: autosomal recessive intellectual developmental disorder 67 alt_id: DOID:9002440 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. (DO)" [PMID:30409806 "DO"] synonym: "EIF3F-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 67" EXACT [] synonym: "MRT67" EXACT [] xref: MIM:618295 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:00:11Z [Term] id: DOID:0081229 name: autosomal recessive intellectual developmental disorder 68 alt_id: DOID:9006641 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. (DO)" [PMID:30289604 "DO"] synonym: "Mental Retardation, Autosomal Recessive 68" EXACT [] synonym: "MRT68" EXACT [] synonym: "TRMT1-RELATED CONDITION" EXACT [] xref: MIM:618302 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:01:04Z [Term] id: DOID:0081230 name: autosomal recessive intellectual developmental disorder 69 alt_id: DOID:9005345 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. (DO)" [PMID:29893856 "DO"] synonym: "mental retardation, autosomal recessive 69" EXACT [] synonym: "MRT69" EXACT [] synonym: "NEDMCB" EXACT [] synonym: "neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities" EXACT [] synonym: "ZBTB11-RELATED CONDITION" EXACT [] xref: MIM:618383 xref: MONDO:0032715 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:02:11Z [Term] id: DOID:0081231 name: autosomal recessive intellectual developmental disorder 70 alt_id: DOID:9009079 def: "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. (DO)" [PMID:28640246 "DO"] synonym: "Mental Retardation, Autosomal Recessive 70" EXACT [] synonym: "MRT70" EXACT [] synonym: "RSRC1-related disorder" EXACT [] xref: MIM:618402 xref: MONDO:0032729 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:03:15Z [Term] id: DOID:0081232 name: autosomal recessive intellectual developmental disorder 71 alt_id: DOID:9000328 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. (DO)" [PMID:31079898 "DO"] synonym: "ALKBH8-RELATED CONDITION" EXACT [] synonym: "autosomal recessive mental retardation 71" EXACT [] synonym: "MRT71" EXACT [] xref: EFO:0010280 xref: MIM:618504 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:04:15Z [Term] id: DOID:0081233 name: autosomal recessive intellectual developmental disorder 73 alt_id: DOID:9006469 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. (DO)" [PMID:34230638 "DO"] synonym: "MRT73" EXACT [] xref: MIM:619717 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2022-08-29T16:05:08Z [Term] id: DOID:0081234 name: autosomal recessive intellectual developmental disorder 75 alt_id: DOID:9001728 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. (DO)" [PMID:34163010 "DO"] synonym: "Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly" EXACT [] synonym: "MRT75" EXACT [] synonym: "PIDD1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "PIDD1-RELATED CONDITION" EXACT [] synonym: "PIDD1 RELATED DISORDER" EXACT [] xref: MIM:619827 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:07:37Z [Term] id: DOID:0081235 name: autosomal recessive intellectual developmental disorder 76 alt_id: DOID:9000317 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. (DO)" [PMID:35675825 "DO"] synonym: "GRIA1-RELATED CONDITION" BROAD [] synonym: "Mental Retardation, Autosomal Recessive 76" EXACT [] synonym: "MRT76" EXACT [] xref: MIM:619931 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:08:47Z [Term] id: DOID:0081236 name: autosomal recessive intellectual developmental disorder 77 alt_id: DOID:9008047 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. (DO)" [PMID:34196201 "DO"] synonym: "CEP104-RELATED CONDITION" BROAD [] synonym: "MRT77" EXACT [] xref: MIM:619988 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:09:36Z [Term] id: DOID:0081237 name: acromesomelic dysplasia 3 alt_id: DOID:9005796 def: "An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)" [PMID:26105076 "DO"] synonym: "acromesomelic chondrodysplasia, with genital anomalies" EXACT [] synonym: "acromesomelic chondrodysplasia with or without genital anomalies" EXACT [] synonym: "acromesomelic dysplasia, Demirhan type" EXACT [] synonym: "AMD3" EXACT [] synonym: "AMDD" EXACT [] xref: MESH:C537913 xref: MIM:609441 xref: MONDO:0012274 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia is_a: DOID:1100 ! ovarian disease is_a: DOID:9006294 ! Congenital Limb Deformities created_by: mtutaj creation_date: 2022-08-29T16:11:13Z [Term] id: DOID:0081238 name: acromesomelic dysplasia 4 alt_id: DOID:9000536 def: "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. (DO)" [PMID:33106379 "DO"] synonym: "AMD4" EXACT [] synonym: "PRKG2-related condition" BROAD [] xref: MIM:619636 xref: MONDO:0030553 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia created_by: mtutaj creation_date: 2022-08-29T16:12:32Z [Term] id: DOID:0081239 name: injection anthrax def: "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. (DO)" [https://www.cdc.gov/anthrax/basics/types/index.html "DO", PMID:29533547 "DO"] synonym: "injectional anthrax" EXACT [] synonym: "injectional anthrax syndrome" EXACT [] is_a: DOID:7427 ! anthrax disease created_by: mtutaj creation_date: 2022-08-29T16:13:46Z [Term] id: DOID:0081240 name: peroxisome biogenesis disorder 1B def: "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)" [PMID:22871920 "DO", PMID:28523433 "DO"] synonym: "PBD1B" EXACT [] xref: MIM:601539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2022-09-30T10:20:32Z [Term] id: DOID:0081241 name: peroxisome biogenesis disorder 3B alt_id: DOID:9009157 def: "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)" [PMID:22871920 "DO"] synonym: "PDB3B" EXACT [] synonym: "Peroxisomal Biogenesis Disorder 3B" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER TYPE 3B" EXACT [] xref: MIM:266510 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2022-09-30T12:45:13Z [Term] id: DOID:0081242 name: autoimmune interstitial lung, joint, and kidney disease alt_id: DOID:9007760 def: "An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. (DO)" [https://rarediseases.org/rare-diseases/copa-syndrome/ "DO", PMID:25894502 "DO"] synonym: "AIAISD1" EXACT [] synonym: "AILJK" EXACT [] synonym: "autoimmune interstitial lung disease-arthritis syndrome" EXACT [] synonym: "autoinflammation and autoimmunity, systemic with immune dysregulation" EXACT [] synonym: "COPA syndrome" EXACT [] synonym: "systemic autoinflammation and autoimmunity with immune dysregulation 1" EXACT [] xref: MIM:616414 xref: MONDO:0014629 xref: ORDO:444092 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3082 ! interstitial lung disease is_a: DOID:417 ! autoimmune disease is_a: DOID:557 ! kidney disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:848 ! arthritis created_by: mtutaj creation_date: 2022-09-30T12:50:11Z [Term] id: DOID:0081243 name: rhizomelic chondrodysplasia punctate type 4 alt_id: DOID:9001854 def: "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/ "DO", PMID:28523433 "DO"] synonym: "FAR1-RELATED CONDITION" BROAD [] synonym: "FAR1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder" EXACT [] synonym: "PFCRD" EXACT [] xref: MIM:616154 xref: ORDO:438178 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata is_a: DOID:3146 ! lipid metabolism disorder created_by: mtutaj creation_date: 2022-09-30T12:55:04Z [Term] id: DOID:0081244 name: pituitary blastoma def: "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. (DO)" [PMID:35291028 "DO"] synonym: "pituitary gland blastoma" EXACT [] xref: ICDO:8273/3 xref: NCI:C155304 is_a: DOID:0070003 ! blastoma is_a: DOID:1785 ! pituitary cancer created_by: mtutaj creation_date: 2022-09-30T13:02:05Z [Term] id: DOID:0081245 name: cauda equina neuroendocrine tumor def: "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. (DO)" [https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us "DO"] synonym: "Cauda equina neuroendocrine tumour" EXACT [] synonym: "Spinal neuroendocrine tumors" EXACT [] xref: ICDO:8693/3 xref: NCI:C5324 is_a: DOID:4847 ! cauda equina neoplasm created_by: mtutaj creation_date: 2022-09-30T13:08:49Z [Term] id: DOID:0081246 name: teratoma with somatic-type malignancy def: "A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/ "DO"] xref: EFO:1000563 xref: ICDO:9084/3 xref: NCI:C4289 is_a: DOID:3307 ! teratoma created_by: mtutaj creation_date: 2022-09-30T17:42:05Z [Term] id: DOID:0081247 name: dedifferentiated chondrosarcoma def: "A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. (DO)" [PMID:34734747 "DO"] synonym: "DDC" EXACT [] xref: EFO:0000394 xref: ICDO:9243/3 xref: NCI:C6476 is_a: DOID:3371 ! chondrosarcoma created_by: mtutaj creation_date: 2022-09-30T17:45:23Z [Term] id: DOID:0081248 name: pineocytoma def: "An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. (DO)" [https://rarediseases.org/gard-rare-disease/pineocytoma/ "DO"] xref: EFO:1000476 xref: ICDO:9361/1 xref: NCI:C6966 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:9005957 ! Pinealoma created_by: mtutaj creation_date: 2022-09-30T20:24:21Z [Term] id: DOID:0081249 name: EWSR1-negative small round cell tumor def: "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. (DO)" [PMID:28346326 "DO"] synonym: "EWSR1-Negative Small Blue Round Cell Tumor" EXACT [] xref: NCI:C165671 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2022-09-30T21:01:23Z [Term] id: DOID:0081250 name: CIC-rearranged sarcoma alt_id: DOID:9007982 def: "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. (DO)" [PMID:31288305 "DO", PMID:32796172 "DO", PMID:33680459 "DO"] synonym: "Capicua transcriptional repressor (CIC)-rearranged sarcoma" EXACT [] synonym: "CIC-DUX SARCOMA" EXACT [] xref: ICDO:9367/3 xref: NCI:C120224 is_a: DOID:0081249 ! EWSR1-negative small round cell tumor created_by: mtutaj creation_date: 2022-09-30T21:08:09Z [Term] id: DOID:0081251 name: papillary tumor of the pineal region alt_id: DOID:9001675 def: "A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. (DO)" [PMID:29691144 "DO"] synonym: "Papillary tumour of the pineal region" EXACT [] synonym: "PTPR" EXACT [] xref: EFO:1000451 xref: ICDO:9395/3 xref: NCI:C92624 is_a: DOID:5032 ! pineal gland cancer is_a: DOID:9005957 ! Pinealoma created_by: mtutaj creation_date: 2022-09-30T21:11:16Z [Term] id: DOID:0081252 name: supratentorial ependymoma, ZFTA fusion-positive is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2022-09-30T21:13:51Z [Term] id: DOID:0081253 name: supratentorial ependymoma, YAP1 fusion-positive is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2022-09-30T21:15:35Z [Term] id: DOID:0081254 name: posterior fossa group A ependymoma def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. (DO)" [PMID:29909548 "DO"] synonym: "posterior fossa group A (PFA) ependymoma" EXACT [] xref: MONDO:0956992 xref: NCI:C186450 is_a: DOID:0080889 ! posterior fossa ependymoma created_by: mtutaj creation_date: 2022-09-30T21:18:42Z [Term] id: DOID:0081255 name: posterior fossa group B ependymoma def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. (DO)" [PMID:33902636 "DO"] synonym: "Posterior fossa group B (PFB) ependymoma" EXACT [] xref: NCI:C186451 is_a: DOID:0080889 ! posterior fossa ependymoma created_by: mtutaj creation_date: 2022-09-30T21:19:59Z [Term] id: DOID:0081256 name: astrocytoma, IDH-mutant, grade 2 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. (DO)" [PMID:35902341 "DO"] xref: ICDO:9400/3 xref: NCI:C129271 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma created_by: mtutaj creation_date: 2022-09-30T21:21:00Z [Term] id: DOID:0081257 name: astrocytoma, IDH-mutant, grade 3 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. (DO)" [PMID:34377594 "DO"] xref: ICDO:9401/3 xref: NCI:C129290 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma created_by: mtutaj creation_date: 2022-09-30T21:22:26Z [Term] id: DOID:0081259 name: desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma def: "A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. (DO)" [PMID:31223403 "DO", PMID:35015431 "DO"] synonym: "desmoplastic infantile astrocytoma" EXACT [] synonym: "desmoplastic infantile ganglioglioma" EXACT [] synonym: "desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma" EXACT [] xref: ICDO:9412/1 xref: NCI:C4738 xref: NCI:C9476 is_a: DOID:5078 ! ganglioglioma created_by: mtutaj creation_date: 2022-09-30T21:24:40Z [Term] id: DOID:0081260 name: diffuse low-grade glioma, MAPK pathway-altered is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2022-09-30T21:26:45Z [Term] id: DOID:0081261 name: angiocentric glioma def: "A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. (DO)" [PMID:34863434 "DO"] xref: ICDO:9431/1 xref: MONDO:0016705 xref: NCI:C92552 is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2022-09-30T21:33:07Z [Term] id: DOID:0081262 name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies alt_id: DOID:9004184 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. (DO)" [PMID:34314705 "DO"] synonym: "IDDHISD" EXACT [] synonym: "TNPO2-RELATED CONDITION" EXACT [] xref: MIM:619556 xref: NCI:C210890 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2022-10-31T14:50:57Z [Term] id: DOID:0081263 name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities alt_id: DOID:9002308 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. (DO)" [PMID:35861185 "DO"] synonym: "GEMIN4-RELATED CONDITION" EXACT [] synonym: "NEDMCR" EXACT [] synonym: "NEDMCR syndrome" EXACT [] xref: MIM:617913 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:557 ! kidney disease is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2022-10-31T14:54:13Z [Term] id: DOID:0081264 name: developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome def: "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). (DO)" [PMID:33474647 "DO"] is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-10-31T14:57:38Z [Term] id: DOID:0081265 name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature alt_id: DOID:9009109 def: "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. (DO)" [PMID:31583274 "DO", PMID:35144859 "DO"] synonym: "IDDABS" EXACT [] synonym: "IDDBAS" EXACT [] synonym: "PUS7-related condition" BROAD [] xref: MIM:618342 xref: MONDO:0032687 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2022-10-31T15:01:55Z [Term] id: DOID:0081266 name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures alt_id: DOID:9007846 def: "A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. (DO)" [PMID:31630790 "DO", PMID:36078134 "DO"] synonym: "CDCBM15" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 15" EXACT [] synonym: "PAMDDFS" EXACT [] synonym: "TUBGCP2-related condition" EXACT [] xref: MIM:618737 xref: MONDO:0032893 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-10-31T15:05:19Z [Term] id: DOID:0081267 name: graft-versus-host disease alt_id: DOID:9006073 alt_id: MIM:614395 def: "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK538235/ "DO", PMID:31466596 "DO"] synonym: "graft-versus-host disease, resistance to" RELATED [] synonym: "Graft-Versus-Host Diseases" EXACT [] synonym: "graft-versus-host disease, susceptibility to" RELATED [] synonym: "Graft vs Host Disease" EXACT [] synonym: "Graft-vs-Host Diseases" EXACT [] synonym: "GVHD" EXACT [] synonym: "GVHDS" EXACT [] synonym: "Homologous Wasting Disease" EXACT [] synonym: "PECAM1 POLYMORPHISM" RELATED [] synonym: "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM" RELATED [] synonym: "Runt Disease" EXACT [] xref: ICD11:4B24 xref: MESH:D006086 xref: ORDO:39812 is_a: DOID:2914 ! immune system disease created_by: mtutaj creation_date: 2022-11-30T19:06:21Z [Term] id: DOID:0081268 name: pulmonary venoocclusive disease 1 alt_id: DOID:9007133 def: "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. (DO)" [PMID:18626305 "DO"] synonym: "BMPR2-RELATED CONDITION" BROAD [] synonym: "BMPR2-RELATED DISORDER" BROAD [] synonym: "pulmonary veno-occlusive disease 1" EXACT [] synonym: "pulmonary venoocclusive disease 1, autosomal dominant" EXACT [] synonym: "PVOD1" EXACT [] xref: MIM:265450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5453 ! pulmonary venoocclusive disease created_by: mtutaj creation_date: 2022-11-30T19:10:01Z [Term] id: DOID:0081269 name: pulmonary venoocclusive disease 2 alt_id: DOID:9007143 alt_id: MIM:234810 def: "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. (DO)" [PMID:24292273 "DO"] synonym: "EIF2AK4-RELATED CONDITION" EXACT [] synonym: "Familial Pulmonary Capillary Hemangiomatosis" EXACT [] synonym: "Pulmonary Venoocclusive Disease 2, Autosomal Recessive" EXACT [] synonym: "PVOD2" EXACT [] xref: MESH:C535861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2725 ! capillary hemangioma is_a: DOID:5453 ! pulmonary venoocclusive disease is_a: DOID:9005172 ! Lung Neoplasms created_by: mtutaj creation_date: 2022-11-30T19:11:58Z [Term] id: DOID:0081270 name: Smith-McCort dysplasia 1 alt_id: DOID:9001494 def: "A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. (DO)" [PMID:9295067 "DO"] synonym: "DYM-RELATED CONDITION" BROAD [] synonym: "SMC1" EXACT [] xref: MIM:607326 xref: MONDO:0011814 is_a: DOID:0060247 ! Smith-McCort dysplasia created_by: mtutaj creation_date: 2022-11-30T19:14:34Z [Term] id: DOID:0081271 name: Smith-McCort dysplasia 2 alt_id: DOID:9003257 def: "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. (DO)" [PMID:23042644 "DO"] synonym: "RAB33B-related condition" BROAD [] synonym: "SMC2" EXACT [] xref: MIM:615222 xref: MONDO:0014087 is_a: DOID:0060247 ! Smith-McCort dysplasia created_by: mtutaj creation_date: 2022-11-30T19:15:57Z [Term] id: DOID:0081272 name: Sandestig-Stefanova syndrome alt_id: DOID:9008661 def: "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. (DO)" [PMID:32021605 "DO", PMID:36158057 "DO"] synonym: "NUP188-related condition" BROAD [] synonym: "SANDSTEF" EXACT [] xref: MIM:618804 xref: MONDO:0032926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities created_by: mtutaj creation_date: 2022-11-30T19:18:57Z [Term] id: DOID:0081273 name: Siddiqi syndrome alt_id: DOID:9002405 def: "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)" [PMID:28067622 "DO", PMID:30214770 "DO", PMID:35754111 "DO"] synonym: "deafness, dystonia, developmental delay, and poor growth" EXACT [] synonym: "FITM2-RELATED CONDITION" EXACT [] synonym: "SIDDIS" EXACT [] xref: EFO:0010633 xref: MIM:618635 xref: MONDO:0032842 is_a: DOID:543 ! dystonia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008681 ! Deafness is_a: DOID:9455 ! lipid storage disease created_by: mtutaj creation_date: 2022-11-30T19:21:49Z [Term] id: DOID:0081274 name: peroxisome biogenesis disorder 14B alt_id: DOID:9002681 def: "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. (DO)" [PMID:22581968 "DO", PMID:31724321 "DO"] synonym: "PEX11B-RELATED CONDITION" EXACT [] synonym: "PEX14B" EXACT [] xref: MIM:614920 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004708 ! Peroxisome Biogenesis Disorder, Complementation Group 14 created_by: mtutaj creation_date: 2022-11-30T19:24:10Z [Term] id: DOID:0081275 name: neurodevelopmental disorder with eye movement abnormalities and ataxia alt_id: DOID:9000753 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. (DO)" [PMID:36206744 "DO"] synonym: "FRMD5-related condition" EXACT [] synonym: "NEDEMA" EXACT [] xref: MIM:620094 xref: MONDO:0859305 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9004866 ! Ataxia is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2022-11-30T19:26:13Z [Term] id: DOID:0081276 name: cerebellar atrophy, visual impairment, and psychomotor retardation alt_id: DOID:9001428 def: "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. (DO)" [https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation "DO", PMID:26942288 "DO", PMID:29271071 "DO", PMID:35234901 "DO"] synonym: "CAVIPMR" EXACT [] synonym: "EMC1-RELATED CONDITION" EXACT [] synonym: "EMC1-RELATED DISORDER" EXACT [] xref: MIM:616875 xref: MONDO:0014811 xref: ORDO:480898 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9277 ! primary cerebellar degeneration created_by: mtutaj creation_date: 2022-11-30T19:29:57Z [Term] id: DOID:0081277 name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype def: "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. (DO)" [PMID:34858308 "DO"] synonym: "diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype" EXACT [] xref: MONDO:0858939 xref: NCI:C185467 is_a: DOID:3070 ! high grade glioma created_by: mtutaj creation_date: 2022-12-15T11:46:40Z [Term] id: DOID:0081278 name: infant-type hemispheric glioma def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. (DO)" [PMID:35404193 "DO", PMID:36315913 "DO", PMID:36316040 "DO"] xref: NCI:C185471 is_a: DOID:3069 ! malignant astrocytoma created_by: mtutaj creation_date: 2022-12-15T11:47:48Z [Term] id: DOID:0081279 name: diffuse astrocytoma, MYB- or MYBL1-altered def: "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. (DO)" [PMID:35015431 "DO"] xref: ICDO:9421/1 xref: MONDO:0859615 xref: NCI:C185196 is_a: DOID:4857 ! diffuse astrocytoma created_by: mtutaj creation_date: 2022-12-15T11:50:01Z [Term] id: DOID:0081280 name: pituicytoma def: "A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. (DO)" [https://en.wikipedia.org/wiki/Pituicytoma "DO", PMID:36057248 "DO", PMID:36180358 "DO"] xref: EFO:1000477 xref: ICDO:9432/1 xref: NCI:C94524 is_a: DOID:5048 ! posterior pituitary gland neoplasm created_by: mtutaj creation_date: 2022-12-15T11:51:15Z [Term] id: DOID:0081281 name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). (DO)" [https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"] is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma created_by: mtutaj creation_date: 2022-12-15T11:52:51Z [Term] id: DOID:0081282 name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. (DO)" [https://www.abta.org/tumor_types/oligodendroglioma/ "DO", https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"] xref: ICDO:9451/3 is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma created_by: mtutaj creation_date: 2022-12-15T11:54:39Z [Term] id: DOID:0081283 name: papillary glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. (DO)" [PMID:35854961 "DO"] synonym: "Papillary glioneuronal tumour" EXACT [] xref: NCI:C92554 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2022-12-15T11:56:29Z [Term] id: DOID:0081284 name: rosette-forming glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. (DO)" [PMID:36230557 "DO"] synonym: "RGNT" EXACT [] synonym: "Rosette-forming glioneuronal tumour" EXACT [] xref: ICDO:9509/1 xref: NCI:C129431 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2022-12-15T11:59:07Z [Term] id: DOID:0081285 name: myxoid glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. (DO)" [PMID:34297434 "DO"] synonym: "Myxoid glioneuronal tumour" EXACT [] xref: NCI:C179229 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2022-12-15T12:00:57Z [Term] id: DOID:0081286 name: embryonal tumor with multilayered rosettes def: "A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. (DO)" [PMID:36451902 "DO"] synonym: "Embryonal tumour with multilayered rosettes" EXACT [] xref: ICDO:9478/3 xref: NCI:C186534 is_a: DOID:0060103 ! central nervous system embryonal tumor created_by: mtutaj creation_date: 2022-12-15T12:03:34Z [Term] id: DOID:0081287 name: white sponge nevus 1 def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. (DO)" [PMID:7493030 "DO"] synonym: "KRT4-RELATED DISORDER" EXACT [] synonym: "WSN1" EXACT [] xref: MIM:193900 is_a: DOID:0050448 ! white sponge nevus is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2023-01-30T18:53:24Z [Term] id: DOID:0081288 name: white sponge nevus 2 def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. (DO)" [PMID:14600690 "DO"] synonym: "KRT13-RELATED CONDITION" EXACT [] synonym: "WSN2" EXACT [] xref: MIM:615785 is_a: DOID:0050448 ! white sponge nevus is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2023-01-30T18:58:12Z [Term] id: DOID:0081289 name: Antley-Bixler syndrome def: "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. (DO)" [https://rarediseases.org/rare-diseases/antley-bixler-syndrome/ "DO"] synonym: "Antley and Bixler's syndrome" EXACT [] synonym: "Antley-Bixler syndrome, autosomal dominant" NARROW [] synonym: "Antley-Bixler syndrome phenotype" EXACT [] synonym: "combined partial deficiency of 17-hydroxylase and 21-hydroxylase" EXACT [] synonym: "multisynostotic osteodysgenesis" EXACT [] synonym: "multisynostotic osteodysgenesis with fractures" EXACT [] synonym: "multisynostotic osteodysgenesis with long bone fractures" EXACT [] synonym: "POR deficiency" EXACT [] synonym: "trapezoidocephaly synostosis syndrome" EXACT [] synonym: "trapezoidocephaly-synostosis syndromes" EXACT [] xref: GARD:5826 xref: MESH:D054882 xref: MONDO:0008803 is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2023-01-30T18:11:33Z [Term] id: DOID:0081290 name: Antley-Bixler syndrome without disordered steroidogenesis def: "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)" [PMID:15793702 "DO"] synonym: "ABS2" EXACT [] synonym: "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" EXACT [] xref: DOID:9007609 xref: MIM:207410 xref: MONDO:0020667 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081289 ! Antley-Bixler syndrome created_by: mtutaj creation_date: 2023-01-30T19:02:56Z [Term] id: DOID:0081291 name: chronic traumatic encephalopathy alt_id: DOID:9005200 def: "A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. (DO)" [https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01189-4 "DO", https://www.nature.com/articles/s41586-019-1026-5 "DO", PMID:33621530 "DO"] synonym: "Chronic Post-Concussive Encephalopathies" EXACT [] synonym: "Chronic Post Concussive Encephalopathy" EXACT [] synonym: "Chronic Post-Traumatic Encephalopathies" EXACT [] synonym: "Chronic Post Traumatic Encephalopathy" EXACT [] synonym: "Post-Concussive Encephalopathies" EXACT [] synonym: "Post Concussive Encephalopathy" EXACT [] synonym: "Post-Traumatic Encephalopathies" EXACT [] synonym: "Post Traumatic Encephalopathy" EXACT [] xref: MESH:D000070627 is_a: DOID:0081292 ! traumatic brain injury is_a: DOID:680 ! tauopathy is_a: DOID:9005179 ! Chronic Brain Injury created_by: mtutaj creation_date: 2023-01-30T19:05:06Z [Term] id: DOID:0081292 name: traumatic brain injury alt_id: DOID:9003061 def: "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459300/ "DO"] synonym: "Brain Trauma" EXACT [] synonym: "brain traumas" EXACT [] synonym: "TBI (Traumatic Brain Injury)" EXACT [] synonym: "Traumatic Brain Injuries" EXACT [] synonym: "Traumatic Encephalopathies" EXACT [] synonym: "traumatic encephalopathy" EXACT [] xref: MESH:D000070642 xref: MONDO:0858950 is_a: DOID:9000998 ! Brain Injuries created_by: mtutaj creation_date: 2023-01-30T19:08:24Z [Term] id: DOID:0081293 name: salivary gland mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the salivary gland. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"] synonym: "Major Salivary Gland Mucoepidermoid Carcinoma" NARROW [] xref: EFO:1000346 xref: NCI:C5908 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: mtutaj creation_date: 2023-01-30T19:11:40Z [Term] id: DOID:0081294 name: neuronal intranuclear inclusion disease alt_id: DOID:9002831 def: "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)" [PMID:27797808 "DO"] synonym: "NIID" EXACT [] xref: MESH:C537395 xref: MIM:603472 xref: MONDO:0011327 xref: NCI:C122655 xref: ORDO:2289 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease created_by: mtutaj creation_date: 2023-01-30T19:26:48Z [Term] id: DOID:0081295 name: essential tremor 6 alt_id: DOID:9004326 def: "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)" [PMID:31819945 "DO"] synonym: "ETM6" EXACT [] synonym: "hereditary essential tremor 6" EXACT [] xref: MIM:618866 xref: MONDO:0030027 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor created_by: mtutaj creation_date: 2023-01-30T19:29:38Z [Term] id: DOID:0081296 name: oculopharyngodistal myopathy alt_id: DOID:9008215 def: "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. (DO)" [https://jnnp.bmj.com/content/75/10/1499 "DO"] synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT [] synonym: "FOLP-DR" EXACT [] synonym: "oculopharyngodistal myopathies" EXACT [] synonym: "OPDM" EXACT [] xref: GARD:12592 xref: MESH:C563508 xref: MIM:PS164310 xref: ORDO:98897 is_a: DOID:9884 ! muscular dystrophy created_by: mtutaj creation_date: 2023-01-30T19:31:51Z [Term] id: DOID:0081297 name: oculopharyngodistal myopathy 1 alt_id: DOID:9002808 def: "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)" [PMID:31332380 "DO"] synonym: "LRP12-related condition" BROAD [] synonym: "OPDM1" EXACT [] xref: MIM:164310 xref: MONDO:0020793 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:34:53Z [Term] id: DOID:0081298 name: oculopharyngodistal myopathy 2 alt_id: DOID:9000168 def: "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. (DO)" [PMID:32413282 "DO"] synonym: "OPDM2" EXACT [] xref: MIM:618940 xref: MONDO:0030134 xref: NCI:C190873 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:36:22Z [Term] id: DOID:0081299 name: oculopharyngodistal myopathy 3 alt_id: DOID:9002692 def: "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. (DO)" [PMID:33693509 "DO"] synonym: "OPDM3" EXACT [] xref: MIM:619473 xref: MONDO:0023671 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:36:35Z [Term] id: DOID:0081300 name: oculopharyngodistal myopathy 4 alt_id: DOID:9000611 def: "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. (DO)" [PMID:35148830 "DO"] synonym: "OPDM4" EXACT [] xref: MIM:619790 xref: MONDO:0030712 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:36:51Z [Term] id: DOID:0081301 name: intellectual developmental disorder with ocular anomalies and distinctive facial features alt_id: DOID:9001279 def: "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. (DO)" [PMID:36067766 "DO"] synonym: "IDDOF" EXACT [] synonym: "MTSS2-related disorder" BROAD [] synonym: "MTSS2-related neurodevelopmental disorder" EXACT [] xref: MIM:620086 xref: MONDO:0859303 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2023-01-30T19:40:53Z [Term] id: DOID:0081302 name: diffuse leptomeningeal glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. (DO)" [https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us "DO"] synonym: "Diffuse leptomeningeal glioneuronal tumour" EXACT [] xref: ICDO:9509/3 xref: NCI:C129424 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2023-01-30T19:44:00Z [Term] id: DOID:0081303 name: multinodular and vacuolating neuronal tumor def: "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. (DO)" [https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us "DO"] xref: ICDO:9509/0 xref: NCI:C129427 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2023-01-30T19:45:45Z [Term] id: DOID:0081304 name: high-grade astrocytoma with piloid features def: "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. (DO)" [https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/ "DO"] xref: ICDO:9421/3 xref: NCI:C185879 is_a: DOID:3078 ! anaplastic astrocytoma created_by: mtutaj creation_date: 2023-01-30T19:46:54Z [Term] id: DOID:0081305 name: polymorphous low grade neuroepithelial tumour of the young def: "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. (DO)" [https://journals.sagepub.com/doi/full/10.1177/20363613221083360 "DO"] synonym: "Massively Calcified Low Grade Glioma" EXACT [] xref: MONDO:0858959 xref: NCI:C180378 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2023-01-30T19:48:26Z [Term] id: DOID:0081306 name: spindle cell oncocytoma def: "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/ "DO"] xref: ICDO:8290/0 xref: MONDO:0858960 xref: NCI:C94537 is_a: DOID:5048 ! posterior pituitary gland neoplasm created_by: mtutaj creation_date: 2023-01-30T19:49:29Z [Term] id: DOID:0081307 name: lymphomatoid granulomatosis alt_id: DOID:9007761 def: "A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/ "DO"] synonym: "lymphomatoid granulomatoses" EXACT [] xref: ICD10CM:C83.8 xref: MESH:D008230 xref: MONDO:0019466 xref: NCI:C7930 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:707 ! B-cell lymphoma created_by: mtutaj creation_date: 2023-01-30T19:51:02Z [Term] id: DOID:0081308 name: grade I lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"] xref: NCI:C7931 is_a: DOID:0081307 ! lymphomatoid granulomatosis created_by: mtutaj creation_date: 2023-01-30T19:52:38Z [Term] id: DOID:0081309 name: grade II lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"] xref: ICDO:9766/1 is_a: DOID:0081307 ! lymphomatoid granulomatosis created_by: mtutaj creation_date: 2023-01-30T19:53:27Z [Term] id: DOID:0081310 name: grade III lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"] xref: ICDO:9766/3 is_a: DOID:0081307 ! lymphomatoid granulomatosis created_by: mtutaj creation_date: 2023-01-30T19:54:33Z [Term] id: DOID:0081311 name: intravascular large B-cell lymphoma def: "A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. (DO)" [https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon "DO"] xref: ICDO:9712/3 xref: NCI:C4342 is_a: DOID:0081452 ! large B-cell lymphoma created_by: mtutaj creation_date: 2023-01-30T19:55:46Z [Term] id: DOID:0081312 name: T-cell non-Hodgkin lymphoma alt_id: DOID:9005436 def: "A non-Hodgkin lymphoma of T-cell lineage. (DO)" [https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html "DO"] synonym: "T-Cell Lymphoma" EXACT [] synonym: "T-Cell Lymphomas" EXACT [] xref: ICDO:9702/3 xref: MESH:D016399 xref: NCI:C3466 is_a: DOID:0060060 ! non-Hodgkin lymphoma created_by: mtutaj creation_date: 2023-01-30T18:35:50Z [Term] id: DOID:0081313 name: primary diffuse large B-cell lymphoma of the central nervous system def: "A diffuse large B-cell lymphoma arising from the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/ "DO"] xref: MONDO:0017596 xref: NCI:C71720 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2023-01-30T20:02:06Z [Term] id: DOID:0081314 name: extraventricular neurocytoma def: "A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. (DO)" [PMID:24357019 "DO"] xref: NCI:C92555 is_a: DOID:3541 ! cerebral ventricle cancer created_by: mtutaj creation_date: 2023-01-30T20:03:02Z [Term] id: DOID:0081315 name: central nervous system tumor with BCOR internal tandem duplication def: "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. (DO)" [PMID:35809497 "DO"] synonym: "CNS tumour with BCOR internal tandem duplication" EXACT [] xref: NCI:C186556 is_a: DOID:0060103 ! central nervous system embryonal tumor created_by: mtutaj creation_date: 2023-01-30T20:07:41Z [Term] id: DOID:0081316 name: primary intracranial sarcoma, DICER1-mutant def: "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. (DO)" [PMID:35789272 "DO"] xref: ICDO:9480/3 xref: MONDO:0858967 xref: NCI:C186610 is_a: DOID:2132 ! brain sarcoma created_by: mtutaj creation_date: 2023-01-30T20:08:36Z [Term] id: DOID:0081317 name: multiple synostoses syndrome 1 alt_id: DOID:9007208 def: "A multiple synostoses syndrome is 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 and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)" [PMID:11846737 "DO"] synonym: "DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN" EXACT [] synonym: "FACIOAUDIOSYMPHALANGISM SYNDROME" EXACT [] synonym: "SYMPHALANGISM-BRACHYDACTYLY SYNDROME" EXACT [] synonym: "SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY" EXACT [] synonym: "SYNS1" EXACT [] synonym: "WL SYNDROME" EXACT [] xref: GARD:3836 xref: MIM:186500 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050794 ! multiple synostoses syndrome is_a: DOID:9001951 ! Distal Symphalangism is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2023-02-27T12:45:29Z [Term] id: DOID:0081318 name: multiple synostoses syndrome 2 alt_id: DOID:9006580 alt_id: MIM:610017 def: "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [PMID:16532400 "DO"] synonym: "SYNS2" EXACT [] xref: GARD:9916 xref: MESH:C537380 is_a: DOID:0050794 ! multiple synostoses syndrome created_by: mtutaj creation_date: 2023-02-27T12:45:47Z [Term] id: DOID:0081319 name: multiple synostoses syndrome 3 alt_id: DOID:9002671 alt_id: MIM:612961 def: "A multiple synostoses syndrome that is 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 and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. (DO)" [PMID:28730625 "DO"] synonym: "FGF9-RELATED CONDITION" EXACT [] synonym: "SYNS3" EXACT [] xref: MESH:C567839 is_a: DOID:0050794 ! multiple synostoses syndrome created_by: mtutaj creation_date: 2023-02-27T12:45:58Z [Term] id: DOID:0081320 name: multiple synostoses syndrome 4 alt_id: DOID:9009151 def: "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)" [PMID:29130651 "DO"] synonym: "SYNS4" EXACT [] xref: MIM:617898 is_a: DOID:0050794 ! multiple synostoses syndrome created_by: mtutaj creation_date: 2023-02-27T12:46:08Z [Term] id: DOID:0081321 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A alt_id: DOID:9004135 alt_id: MIM:178110 def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)" [PMID:29805041 "DO"] synonym: "autosomal dominant multiple pterygium syndrome" EXACT [] synonym: "contractures, pterygia, and variable skeletal fusions syndrome 1A" EXACT [] synonym: "CPSFS1A" EXACT [] synonym: "CPSKF1A" EXACT [] synonym: "DA8" RELATED [] synonym: "distal arthrogryposis, type 8" RELATED [] xref: MESH:C566739 xref: ORDO:65743 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome created_by: mtutaj creation_date: 2023-02-27T12:51:25Z [Term] id: DOID:0081322 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B alt_id: DOID:9003440 def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)" [PMID:29805041 "DO"] synonym: "Autosomal recessive multiple pterygium syndrome" EXACT [] synonym: "contractures, pterygia, and variable skeletal fusions syndrome 1B" EXACT [] synonym: "CPSFS1B" EXACT [] synonym: "CPSKF1B" EXACT [] xref: GARD:7111 xref: MIM:618469 xref: ORDO:2990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome created_by: slaulede creation_date: 2019-09-10T00:00:00Z [Term] id: DOID:0081323 name: breast implant illness def: "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. (DO)" [https://www.fda.gov/medical-devices/breast-implants/medical-device-reports-systemic-symptoms-women-breast-implants "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060741/ "DO"] is_a: DOID:225 ! syndrome is_a: DOID:3463 ! breast disease created_by: mtutaj creation_date: 2023-02-27T12:55:48Z [Term] id: DOID:0081324 name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss alt_id: DOID:9003640 def: "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. (DO)" [PMID:35861243 "DO"] synonym: "Birk-Aharoni syndrome" EXACT [] synonym: "BKAH" EXACT [] synonym: "NEDGTH" EXACT [] xref: MIM:620071 xref: MONDO:0859296 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:12835 ! quadriplegia is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2023-02-27T12:57:01Z [Term] id: DOID:0081325 name: developmental and epileptic encephalopathy 94 alt_id: DOID:9001359 def: "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. (DO)" [PMID:23708187 "DO"] synonym: "CHD2-related disorder" EXACT [] synonym: "DEE94" EXACT [] xref: EFO:0020000 xref: MIM:615369 xref: MONDO:0014150 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-02-27T13:05:09Z [Term] id: DOID:0081326 name: oxoglutarate dehydrogenase deficiency alt_id: DOID:9006776 alt_id: MIM:203740 def: "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. (DO)" [PMID:32383294 "DO"] synonym: "2-alpha-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "2-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "alpha-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "ALPHA-KGD DEFICIENCY" EXACT [] synonym: "OGDHD" EXACT [] synonym: "OGDH-RELATED DISORDER" EXACT [] synonym: "OXOGLUTARICACIDURIA" EXACT [] synonym: "Oxoglutaric Aciduria" EXACT [] xref: GARD:617 xref: MESH:C536582 xref: ORDO:31 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2023-02-27T13:07:01Z [Term] id: DOID:0081327 name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures alt_id: DOID:9009222 def: "A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (DO)" [https://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/ "DO", https://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder "DO", https://www.childneurologyfoundation.org/disorder/irf2bpl/ "DO", PMID:30057031 "DO", PMID:30166628 "DO"] synonym: "IRF2BPL-related condition" BROAD [] synonym: "NEDAMSS" EXACT [] xref: MIM:618088 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-02-27T13:08:58Z [Term] id: DOID:0081328 name: familial hyperinsulinemic hypoglycemia 8 alt_id: DOID:9006400 def: "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. (DO)" [PMID:34971397 "DO"] synonym: "HHF8" EXACT [] xref: MIM:620211 xref: MONDO:0859362 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia created_by: mtutaj creation_date: 2023-03-31T15:57:18Z [Term] id: DOID:0081329 name: glycogen storage disease I def: "A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. (DO)" [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO", https://www.ncbi.nlm.nih.gov/books/NBK1312/ "DO", MIM:232200#33 "DO"] synonym: "deficiency of glucose-6-phosphatase" EXACT [] synonym: "Gierke's disease" EXACT [] synonym: "Gierke disease" EXACT [] synonym: "Gierkes disease" EXACT [] synonym: "Glucose-6-Phosphatase Deficiencies" EXACT [] synonym: "Glucose 6 Phosphatase Deficiency" EXACT [] synonym: "glucosephosphatase deficiencies" EXACT [] synonym: "Glucosephosphatase Deficiency" EXACT [] synonym: "Glycogenosis 1" EXACT [] synonym: "glycogenosis type I" EXACT [] synonym: "Glycogen storage disease 1" EXACT [] synonym: "glycogen storage disease 1 (GSD I)" EXACT [] synonym: "glycogen storage disease type I" EXACT [] synonym: "hepatorenal glycogen storage disease" EXACT [] synonym: "von Gierke's disease" EXACT [] synonym: "von Gierke Disease" EXACT [] synonym: "von Gierkes disease" EXACT [] xref: EFO:0007288 xref: ICD10CM:E74.01 xref: MESH:D005953 xref: MONDO:0002413 xref: NCI:C84733 xref: ORDO:364 is_a: DOID:2747 ! glycogen storage disease created_by: mtutaj creation_date: 2023-03-31T16:02:55Z [Term] id: DOID:0081330 name: glycogen storage disease Ib alt_id: DOID:9000306 alt_id: MIM:232220 def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)" [PMID:31536830 "DO"] synonym: "glucose-6-phosphate transport defect" EXACT [] synonym: "glycogen storage disease type IB" EXACT [] synonym: "GSD1B" EXACT [] synonym: "GSD Ib" EXACT [] xref: MESH:C562594 xref: NCI:C122661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I created_by: mtutaj creation_date: 2023-03-31T16:09:50Z [Term] id: DOID:0081331 name: glycogen storage disease Ic alt_id: DOID:9008172 alt_id: MIM:232240 def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. (DO)" [PMID:10598822 "DO"] synonym: "GSD1C" EXACT [] synonym: "GSD IC" EXACT [] xref: MESH:C562805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I created_by: mtutaj creation_date: 2023-03-31T16:11:29Z [Term] id: DOID:0081332 name: progeroid syndrome def: "A syndrome that is characterized by the premature onset of age-related pathologies. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/ "DO", PMID:34272172 "DO"] synonym: "progeroid disease" EXACT [] synonym: "progeroid syndromes" EXACT [] xref: MIM:PS176670 is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2023-03-31T15:28:51Z [Term] id: DOID:0081333 name: Wiedemann-Rautenstrauch syndrome alt_id: DOID:9008367 def: "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)" [https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/ "DO", PMID:23696134 "DO"] synonym: "neonatal progeroid syndrome" EXACT [] synonym: "neonatal pseudo-hydrocephalic progeroid syndrome" EXACT [] synonym: "POLR3A-RELATED CONDITION" BROAD [] synonym: "POLR3A-RELATED DISORDERS" BROAD [] synonym: "POLR3A-RELATED NEUROLOGICAL DISORDER" BROAD [] synonym: "WDRTS" EXACT [] synonym: "WIEDEMANN-RAUTENSTRAUCH-LIKE PROGEROID SYNDROME" EXACT [] xref: GARD:330 xref: MESH:C536423 xref: MIM:264090 xref: MONDO:0009910 xref: NCI:C121565 xref: ORDO:3455 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:3911 ! progeria is_a: DOID:9002231 ! Fetal Growth Retardation created_by: mtutaj creation_date: 2023-03-31T16:16:17Z [Term] id: DOID:0081334 name: Nestor-Guillermo progeria syndrome alt_id: DOID:9000907 def: "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. (DO)" [PMID:32783369 "DO"] synonym: "NGPS" EXACT [] synonym: "PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS" EXACT [] synonym: "PSCOO" EXACT [] xref: GARD:11008 xref: MIM:614008 xref: MONDO:0013523 xref: ORDO:280576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:9000488 ! Progeria Syndrome, Childhood-Onset is_a: DOID:9006081 ! Osteolysis created_by: mtutaj creation_date: 2023-03-31T16:18:57Z [Term] id: DOID:0081335 name: Becker disease alt_id: DOID:9009057 def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)" [PMID:8301644 "DO"] synonym: "CLCN1-RELATED DISORDER" BROAD [] synonym: "CONGENITAL MYOTONIA, AUTOSOMAL RECESSIVE FORM" EXACT [] synonym: "Myotonia Congenita, Autosomal Recessive" EXACT [] xref: MIM:255300 xref: MIM:255700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2106 ! myotonia congenita created_by: mtutaj creation_date: 2023-05-31T19:43:01Z [Term] id: DOID:0081336 name: Thomsen disease alt_id: DOID:9001336 def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)" [PMID:11840191 "DO"] synonym: "CLCN1-RELATED DISORDER" BROAD [] synonym: "congenital myotonia, autosomal dominant form" EXACT [] synonym: "generalized myotonia of Thomsen" EXACT [] synonym: "Myotonia Congenita, Autosomal Dominant" EXACT [] synonym: "THD" EXACT [] synonym: "Thomsen's Disease" EXACT [] synonym: "Thomsen Generalized Myotonia" EXACT [] synonym: "Thomsens disease" EXACT [] xref: MIM:160800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2106 ! myotonia congenita created_by: mtutaj creation_date: 2023-05-31T19:49:34Z [Term] id: DOID:0081337 name: congenital myopathy alt_id: DOID:0080100 def: "A myopathy that is characterized by hypotonia and weakness, usually present from birth. (DO)" [https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z "DO"] synonym: "Batten Turner congenital myopathy" EXACT [] xref: MIM:PS117000 is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2023-05-31T11:59:47Z [Term] id: DOID:0081338 name: myofibrillar myopathy 11 alt_id: DOID:9007506 def: "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. (DO)" [PMID:33217308 "DO"] synonym: "congenital myopathy with eccentric cores" EXACT [] synonym: "MFM11" EXACT [] synonym: "UNC45B-related condition" BROAD [] xref: MIM:619178 xref: MONDO:0030927 is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2023-05-31T19:53:55Z [Term] id: DOID:0081339 name: congenital myopathy 2B def: "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)" [PMID:25182138 "DO"] synonym: "autosomal recessive congenital myopathy 2B" EXACT [] synonym: "CMYO2B" EXACT [] synonym: "CMYP2B" EXACT [] synonym: "congenital myopathy 2B, severe infantile, autosomal recessive" EXACT [] xref: MIM:620265 xref: MONDO:0859517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T19:59:09Z [Term] id: DOID:0081340 name: congenital myopathy 2C def: "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). (DO)" [PMID:34561123 "DO"] synonym: "autosomal dominant severe infantile congenital myopathy 2C" EXACT [] synonym: "CMYO2C" EXACT [] synonym: "CMYP2C" EXACT [] xref: MIM:620278 xref: MONDO:0859523 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:07:26Z [Term] id: DOID:0081341 name: congenital myopathy 5 alt_id: DOID:9006785 def: "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. (DO)" [PMID:24105469 "DO"] synonym: "AUTOSOMAL RECESSIVE TITINOPATHY" BROAD [] synonym: "CMYO5" EXACT [] synonym: "CMYP5" EXACT [] synonym: "Congenital Myopathy 5 with Cardiomyopathy" EXACT [] synonym: "Early-Onset Myopathy with Fatal Cardiomyopathy" EXACT [] synonym: "EOMFC" EXACT [] synonym: "Salih Cmd" EXACT [] synonym: "Salih Congenital Muscular Dystrophy" EXACT [] synonym: "Salih Myopathy" EXACT [] synonym: "SALMY" EXACT [] xref: MESH:C567129 xref: MIM:611705 xref: MONDO:0012714 xref: ORDO:289377 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:11:45Z [Term] id: DOID:0081342 name: congenital myopathy 8 alt_id: DOID:9004417 def: "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. (DO)" [PMID:30701273 "DO"] synonym: "CMYO8" EXACT [] synonym: "CMYP8" EXACT [] synonym: "Congenital Myopathy with Structured Cores and Z-Line Abnormalities" EXACT [] synonym: "MSCD" EXACT [] synonym: "MULTIPLE STRUCTURED CORE DISEASE" EXACT [] synonym: "MYOCOZ" EXACT [] xref: MIM:618654 xref: MONDO:0032852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:14:59Z [Term] id: DOID:0081343 name: congenital myopathy 9A alt_id: DOID:9006903 def: "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. (DO)" [PMID:30770808 "DO"] synonym: "CMYO9A" EXACT [] synonym: "CMYP9A" EXACT [] synonym: "congenital myopathy 9A with respiratory insufficiency and bone fractures" EXACT [] synonym: "congenital myopathy with respiratory insufficiency and bone fractures" EXACT [] synonym: "MYORIBF" EXACT [] xref: MIM:618822 xref: MONDO:0032936 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11162 ! respiratory failure is_a: DOID:9002589 ! Bone Fractures created_by: mtutaj creation_date: 2023-05-31T20:23:24Z [Term] id: DOID:0081344 name: congenital myopathy 9B alt_id: DOID:9002436 def: "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. (DO)" [PMID:30770808 "DO"] synonym: "CMYO9B" EXACT [] synonym: "CMYP9B" EXACT [] synonym: "Congenital Myopathy 9B, Proximal, with Minicore Lesions" EXACT [] synonym: "Congenital Proximal Myopathy with Minicore Lesions" EXACT [] synonym: "MYOPMIL" EXACT [] synonym: "ongenital proximal myopathy 9B with minicore lesions" EXACT [] xref: MIM:618823 xref: MONDO:0032937 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:25:36Z [Term] id: DOID:0081345 name: congenital myopathy 10B def: "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. (DO)" [PMID:29128256 "DO"] synonym: "CMYO10B" EXACT [] synonym: "CMYP10B" EXACT [] synonym: "congenital myopathy 10B, mild variant" EXACT [] synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" EXACT [] xref: MIM:620249 xref: MONDO:0859515 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:28:07Z [Term] id: DOID:0081346 name: congenital myopathy 14 alt_id: DOID:9001348 def: "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. (DO)" [PMID:30215711 "DO"] synonym: "CMYO14" EXACT [] synonym: "CMYP14" EXACT [] synonym: "Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy" EXACT [] synonym: "congenital myopathy with reduced type 2 muscle fibers" EXACT [] synonym: "MYL1-RELATED CONDITION" EXACT [] synonym: "MYOFTA" EXACT [] xref: MIM:618414 xref: MONDO:0034109 xref: ORDO:544602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:913 ! atrophic muscular disease created_by: mtutaj creation_date: 2023-05-31T20:37:44Z [Term] id: DOID:0081347 name: congenital myopathy 15 alt_id: DOID:9006710 def: "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. (DO)" [PMID:33755597 "DO"] synonym: "CMYO15" EXACT [] synonym: "CMYP15" EXACT [] synonym: "MYONRI" EXACT [] synonym: "MYOPATHY, CONGENITAL, WITH NEONATAL RESPIRATORY INSUFFICIENCY" EXACT [] xref: MIM:620161 xref: MONDO:0859335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11161 ! neonatal respiratory failure created_by: mtutaj creation_date: 2023-05-31T20:41:21Z [Term] id: DOID:0081348 name: congenital myopathy 16 alt_id: DOID:9004398 def: "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. (DO)" [PMID:31025394 "DO"] synonym: "CMYO16" EXACT [] synonym: "CMYP16" EXACT [] synonym: "Congenital Myopathy with Tremor" EXACT [] synonym: "myogenic tremor" EXACT [] synonym: "MYOTREM" EXACT [] xref: MIM:618524 xref: MONDO:0032797 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:9000495 ! Tremor created_by: mtutaj creation_date: 2023-05-31T20:42:45Z [Term] id: DOID:0081349 name: congenital myopathy 17 alt_id: DOID:9009026 def: "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. (DO)" [PMID:30403323 "DO"] synonym: "CMYO17" EXACT [] synonym: "CMYP17" EXACT [] synonym: "congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" EXACT [] synonym: "MYOD1-RELATED CONDITION" EXACT [] synonym: "MYODRIF" EXACT [] synonym: "MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY" EXACT [] xref: MIM:618975 xref: MONDO:0033548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11162 ! respiratory failure is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2023-05-31T20:43:59Z [Term] id: DOID:0081350 name: congenital myopathy 18 alt_id: DOID:9005248 def: "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (DO)" [PMID:33060286 "DO", PMID:34763287 "DO"] synonym: "CMYO18" EXACT [] synonym: "CMYP18" EXACT [] synonym: "Congenital myopathy 18 due to dihydropyridine receptor defect" EXACT [] synonym: "DHPR CONGENITAL MYOPATHY" EXACT [] synonym: "DHPRM" EXACT [] synonym: "DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY" EXACT [] synonym: "MYOPATHY, CONGENITAL, DUE TO DIHYDROPYRIDINE RECEPTOR DEFECT" EXACT [] xref: MIM:620246 xref: MONDO:0859514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:45:32Z [Term] id: DOID:0081351 name: congenital myopathy 19 alt_id: DOID:9002481 def: "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. (DO)" [PMID:31092906 "DO"] synonym: "CMYO19" EXACT [] synonym: "CMYP19" EXACT [] synonym: "MYOSCO" EXACT [] synonym: "PAX7-RELATED CONDITION" BROAD [] synonym: "Progressive Congenital Myopathy with Scoliosis" EXACT [] xref: EFO:0010565 xref: MIM:618578 xref: MONDO:0032821 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060249 ! scoliosis is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:47:40Z [Term] id: DOID:0081352 name: congenital myopathy 20 alt_id: DOID:9006540 def: "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. (DO)" [PMID:29498452 "DO", PMID:31230720 "DO"] synonym: "CMYO20" EXACT [] synonym: "CMYP20" EXACT [] synonym: "RYR3-RELATED CONDITION" BROAD [] xref: MIM:620310 xref: MONDO:0957215 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:49:28Z [Term] id: DOID:0081353 name: congenital myopathy 21 alt_id: DOID:9001370 def: "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. (DO)" [PMID:36264506 "DO", PMID:36344539 "DO"] synonym: "CMYO21" EXACT [] synonym: "CMYP21" EXACT [] synonym: "congenital myopathy 21 with early respiratory failure" EXACT [] xref: MIM:620326 xref: MONDO:0957224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11162 ! respiratory failure created_by: mtutaj creation_date: 2023-05-31T20:58:21Z [Term] id: DOID:0081354 name: congenital myopathy 22A alt_id: DOID:9006585 def: "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. (DO)" [PMID:26700687 "DO"] synonym: "classic congenital myopathy 22A" EXACT [] synonym: "CMYO22A" EXACT [] synonym: "CMYP22A" EXACT [] synonym: "Congenital Myopathy 22" BROAD [] synonym: "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE" BROAD [] xref: MIM:620351 xref: MONDO:0957247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T21:00:55Z [Term] id: DOID:0081355 name: congenital myopathy 22B def: "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. (DO)" [PMID:26700687 "DO"] synonym: "CMYO22B" EXACT [] synonym: "CMYP22B" EXACT [] synonym: "congenital myopathy 22B, severe fetal" EXACT [] synonym: "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE" BROAD [] xref: MIM:620369 xref: MONDO:0957265 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T21:18:58Z [Term] id: DOID:0081356 name: spinal muscular atrophy, Jokela type alt_id: DOID:9004598 def: "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK304142/ "DO", PMID:36158221 "DO"] synonym: "SMAJ" EXACT [] xref: MIM:615048 xref: MONDO:0014025 xref: ORDO:276435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy created_by: mtutaj creation_date: 2023-05-31T21:23:08Z [Term] id: DOID:0081357 name: isolated mitochondrial myopathy alt_id: DOID:9008878 def: "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)" [PMID:35700042 "DO"] synonym: "Autosomal dominant mitochondrial myopathy with exercise intolerance" EXACT [] synonym: "IMMD" EXACT [] synonym: "MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT" EXACT [] xref: MIM:616209 xref: ORDO:457050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:699 ! mitochondrial myopathy created_by: mtutaj creation_date: 2023-05-31T21:25:16Z [Term] id: DOID:0081358 name: epidermolytic hyperkeratosis 1 alt_id: DOID:9006135 def: "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)" [PMID:11531804 "DO"] synonym: "EHK1" EXACT [] xref: MIM:113800 xref: ORDO:312 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4603 ! epidermolytic hyperkeratosis created_by: mtutaj creation_date: 2023-05-31T21:27:10Z [Term] id: DOID:0081359 name: epidermolytic hyperkeratosis 2 alt_id: DOID:9004068 def: "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. (DO)" [PMID:19474805 "DO"] synonym: "EHK2" EXACT [] xref: MONDO:0958184 is_a: DOID:4603 ! epidermolytic hyperkeratosis created_by: mtutaj creation_date: 2023-05-31T21:28:50Z [Term] id: DOID:0081360 name: spastic quadriplegic cerebral palsy 2 alt_id: DOID:9003517 alt_id: MIM:612900 def: "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. (DO)" [PMID:16301218 "DO"] synonym: "CPSQ2" EXACT [] synonym: "KANK1-RELATED CONDITION" EXACT [] synonym: "KANK1- RELATED DISORDER" EXACT [] xref: MESH:C567867 is_a: DOID:10970 ! spastic quadriplegic cerebral palsy created_by: mtutaj creation_date: 2023-05-31T21:30:24Z [Term] id: DOID:0081361 name: spastic quadriplegic cerebral palsy 3 def: "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. (DO)" [PMID:23836506 "DO"] synonym: "ADD3-RELATED CONDITION" EXACT [] synonym: "CPSQ3" EXACT [] xref: MIM:617008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy created_by: mtutaj creation_date: 2023-05-31T21:32:27Z [Term] id: DOID:0081362 name: Pierpont syndrome alt_id: DOID:9007450 alt_id: MIM:602342 def: "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8077337/ "DO", PMID:26769062 "DO"] synonym: "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [] synonym: "Plantar lipomatosis, unusual facies, and developmental delay" EXACT [] synonym: "Plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [] synonym: "PRPTS" EXACT [] synonym: "TBL1XR1-RELATED CONDITION" BROAD [] synonym: "TBL1XR1-RELATED DISORDER" BROAD [] synonym: "TBL1XR1-RELATED NEURODEVELOPMENTAL DISORDERS, INCLUDING PIERPONT SYNDROME" BROAD [] xref: MESH:C566559 xref: ORDO:487825 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:3153 ! lipomatosis is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-05-31T21:37:20Z [Term] id: DOID:0081363 name: distal myopathy with rimmed vacuoles def: "A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [PMID:25114083 "DO", PMID:26208961 "DO", PMID:33125541 "DO", PMID:37188302 "DO", PMID:37205240 "DO"] synonym: "distal myopathy, with or without rimmed vacuoles" EXACT [] xref: MIM:617158 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy created_by: mtutaj creation_date: 2023-05-31T21:39:39Z [Term] id: DOID:0081364 name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset alt_id: DOID:9005240 def: "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [PMID:27545679 "DO"] synonym: "NADGP" EXACT [] xref: MIM:617145 xref: MONDO:0014940 xref: NCI:C210892 is_a: DOID:1289 ! neurodegenerative disease created_by: mtutaj creation_date: 2023-05-31T21:45:58Z [Term] id: DOID:0081365 name: Paget's disease of bone 2 alt_id: DOID:9003060 def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. (DO)" [PMID:24988994 "DO"] synonym: "Paget disease of bone-2" EXACT [] synonym: "Paget Disease of Bone 2, Early-Onset" EXACT [] synonym: "PDB2" EXACT [] xref: MIM:602080 xref: MONDO:0011183 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-05-31T21:48:46Z [Term] id: DOID:0081366 name: Paget's disease of bone 3 alt_id: DOID:9007946 def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [PMID:24988994 "DO"] synonym: "Paget disease of bone 3" EXACT [] synonym: "PDB3" EXACT [] xref: MIM:167250 xref: MONDO:0008176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:01:37Z [Term] id: DOID:0081367 name: Paget's disease of bone 4 alt_id: DOID:9006119 alt_id: MIM:606263 def: "A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. (DO)" [PMID:11473345 "DO"] synonym: "Paget Disease of Bone 4" EXACT [] synonym: "PDB4" EXACT [] xref: MESH:C565240 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:03:53Z [Term] id: DOID:0081368 name: Paget's disease of bone 5 alt_id: DOID:9005421 alt_id: MIM:239000 def: "A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. (DO)" [PMID:25108083 "DO"] synonym: "chronic congenital idiopathic hyperphosphatasemia" EXACT [] synonym: "elevated alkaline phosphatase" BROAD [] synonym: "familial idiopathic hyperphosphatasemia" EXACT [] synonym: "familial idiopathic hyperphosphatasia" EXACT [] synonym: "familial osteoectasia" EXACT [] synonym: "Hereditary hyperphosphatasia" EXACT [] synonym: "hyperostosis corticalis deformans juvenilis" EXACT [] synonym: "hyperphosphatasemia with bone disease" EXACT [] synonym: "Idiopathic Hyperphosphatasia" EXACT [] synonym: "JPD" EXACT [] synonym: "juvenile Paget's disease" EXACT [] synonym: "juvenile Paget disease" EXACT [] synonym: "osteochalasia desmalis familiaris" EXACT [] synonym: "osteoectasia with hyperphosphatasia" EXACT [] synonym: "Paget disease of bone-5" EXACT [] synonym: "Paget Disease of Bone 5, Juvenile-Onset" EXACT [] synonym: "PDB5" EXACT [] synonym: "TNFRSF11B-RELATED CONDITION" EXACT [] xref: GARD:2831 xref: MESH:C537701 xref: NCI:C131861 xref: ORDO:2801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:05:18Z [Term] id: DOID:0081369 name: Paget's disease of bone 6 alt_id: DOID:9001120 def: "A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. (DO)" [PMID:26849110 "DO"] synonym: "Paget disease of bone 6" EXACT [] synonym: "PDB6" EXACT [] synonym: "ZNF687-RELATED CONDITION" EXACT [] xref: MIM:616833 xref: MONDO:0014792 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:07:09Z [Term] id: DOID:0081370 name: LADD syndrome def: "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. (DO)" [https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/ "DO"] synonym: "lacrimo-auriculo-dento-digital (LADD) syndrome" EXACT [] synonym: "lacrimoauriculodentodigital syndrome" EXACT [] synonym: "LADD" EXACT [] synonym: "Levy-Hollister syndrome" EXACT [] xref: GARD:6848 xref: MESH:C538132 xref: MIM:PS149730 xref: MONDO:0007872 xref: ORDO:2363 is_a: DOID:11193 ! syndactyly is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities created_by: mtutaj creation_date: 2023-06-29T19:45:51Z [Term] id: DOID:0081371 name: lacrimoauriculodentodigital syndrome 2 alt_id: DOID:9002835 def: "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. (DO)" [PMID:16501574 "DO"] synonym: "Lacrimo-auriculo-dento-digital syndrome 2" EXACT [] synonym: "LADD2" EXACT [] synonym: "LADD Syndrome 2" EXACT [] xref: MIM:620192 xref: MONDO:0859577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome created_by: mtutaj creation_date: 2023-06-29T22:07:31Z [Term] id: DOID:0081372 name: lacrimoauriculodentodigital syndrome 3 alt_id: DOID:9008206 def: "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)" [PMID:16630169 "DO"] synonym: "Lacrimo-auriculo-dento-digital syndrome 3" EXACT [] synonym: "LADD3" EXACT [] synonym: "LADD Syndrome 3" EXACT [] xref: MIM:620193 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome created_by: mtutaj creation_date: 2023-06-29T22:09:45Z [Term] id: DOID:0081373 name: disabling pansclerotic morphea alt_id: DOID:0080002 def: "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. (DO)" [PMID:30838436 "DO", PMID:37256972 "DO"] synonym: "disabling pansclerotic morphea of childhood" EXACT [] synonym: "juvenile localized scleroderma" EXACT [] synonym: "STAT4-related consition" BROAD [] xref: MIM:620443 xref: MONDO:0957497 is_a: DOID:8472 ! localized scleroderma created_by: mtutaj creation_date: 2023-08-08T09:03:21Z [Term] id: DOID:0081374 name: nemaline myopathy 5B alt_id: DOID:0080003 def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. (DO)" [PMID:35165004 "DO"] synonym: "NEM5B" EXACT [] synonym: "NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET" EXACT [] xref: MIM:620386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009369 ! nemaline myopathy 5 created_by: mtutaj creation_date: 2023-08-08T09:09:04Z [Term] id: DOID:0081375 name: nemaline myopathy 5C alt_id: DOID:0080004 def: "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)" [PMID:35510366 "DO"] synonym: "NEM5C" EXACT [] synonym: "NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT" EXACT [] xref: MIM:620389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009369 ! nemaline myopathy 5 created_by: mtutaj creation_date: 2023-08-08T09:11:06Z [Term] id: DOID:0081377 name: COX deficiency, benign infantile mitochondrial myopathy alt_id: DOID:0080035 def: "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. (DO)" [https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO"] synonym: "isolated cytochrome C oxidase deficiency" EXACT [] xref: ORDO:254905 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease created_by: mtutaj creation_date: 2023-08-08T09:14:16Z [Term] id: DOID:0081378 name: amyotrophic lateral sclerosis type 24 alt_id: DOID:9009135 def: "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [PMID:26945885 "DO"] synonym: "ALS24" EXACT [] synonym: "amyotrophic lateral sclerosis 24" EXACT [] synonym: "NEK1-RELATED CONDITION" BROAD [] synonym: "susceptibility to amyotrophic lateral sclerosis-24" RELATED [] xref: MIM:617892 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:46:43Z [Term] id: DOID:0081379 name: amyotrophic lateral sclerosis type 25 alt_id: DOID:9009136 def: "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). (DO)" [PMID:29566793 "DO"] synonym: "ALS25" EXACT [] synonym: "amyotrophic lateral sclerosis 25" EXACT [] synonym: "KIF5A-related amyotrophic lateral sclerosis" EXACT [] synonym: "susceptibility to amyotrophic lateral sclerosis-25" RELATED [] xref: MIM:617921 xref: NCI:C189922 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:46:57Z [Term] id: DOID:0081380 name: amyotrophic lateral sclerosis type 26 alt_id: DOID:9004406 def: "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. (DO)" [PMID:28817800 "DO"] synonym: "ALS26" EXACT [] synonym: "amyotrophic lateral sclerosis 26" EXACT [] synonym: "amyotrophic lateral sclerosis-26 with or without frontotemporal dementia" EXACT [] xref: MIM:619133 xref: NCI:C214859 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:47:14Z [Term] id: DOID:0081381 name: juvenile amyotrophic lateral sclerosis type 27 alt_id: DOID:9005364 def: "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)" [PMID:34059824 "DO"] synonym: "ALS27" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE" EXACT [] synonym: "amyotrophic lateral sclerosis type 27" EXACT [] synonym: "SPTLC1-RELATED CONDITION" BROAD [] xref: MIM:620285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis created_by: mtutaj creation_date: 2023-10-23T10:47:27Z [Term] id: DOID:0081382 name: amyotrophic lateral sclerosis type 28 alt_id: DOID:9007566 def: "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)" [PMID:37339631 "DO"] synonym: "ALS28" EXACT [] synonym: "amyotrophic lateral sclerosis 28" EXACT [] synonym: "LRP12-RELATED CONDITION" BROAD [] xref: MIM:620452 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:47:39Z [Term] id: DOID:0081383 name: ataxia-oculomotor apraxia 4 alt_id: DOID:9004565 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)" [PMID:25728773 "DO"] synonym: "AOA4" EXACT [] synonym: "ataxia-oculomotor apraxia type 4" EXACT [] synonym: "ataxia with oculomotor apraxia type 4" EXACT [] xref: EFO:0009016 xref: GARD:13111 xref: MIM:616267 xref: MONDO:0014557 xref: ORDO:459033 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 created_by: mtutaj creation_date: 2023-11-30T15:30:18Z [Term] id: DOID:0081384 name: ataxia-telangiectasia-like disorder 1 alt_id: DOID:9007720 def: "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. (DO)" [PMID:10612394 "DO"] synonym: "ATLD1" EXACT [] synonym: "MRE11-RELATED CONDITION" EXACT [] xref: MIM:604391 xref: MONDO:0024557 xref: NCI:C132224 xref: ORDO:251347 is_a: DOID:9004583 ! Ataxia Telangiectasia Like Disorder created_by: mtutaj creation_date: 2023-11-30T15:32:12Z [Term] id: DOID:0081385 name: ataxia-telangiectasia-like disorder 2 alt_id: DOID:9002196 def: "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. (DO)" [PMID:24911150 "DO"] synonym: "ATLD2" EXACT [] synonym: "PCNA-related condition" EXACT [] synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" EXACT [] xref: MIM:615919 xref: MONDO:0014399 xref: ORDO:438134 is_a: DOID:9004583 ! Ataxia Telangiectasia Like Disorder created_by: mtutaj creation_date: 2023-11-30T15:34:16Z [Term] id: DOID:0081386 name: TANGO2-related metabolic encephalopathy and arrythmias alt_id: DOID:9005324 def: "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK476443/ "DO", PMID:26805782 "DO"] synonym: "MECRCN" EXACT [] synonym: "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION" EXACT [] synonym: "recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [] synonym: "Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration" EXACT [] synonym: "TANGO2 deficiency" EXACT [] synonym: "TANGO2-RELATED CONDITION" EXACT [] xref: GARD:13423 xref: MIM:616878 xref: ORDO:480864 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2367 ! neuroaxonal dystrophy is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9000884 ! Rhabdomyolysis is_a: DOID:9005627 ! Metabolic Brain Diseases created_by: mtutaj creation_date: 2023-11-30T15:36:25Z [Term] id: DOID:0081387 name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities alt_id: DOID:9000593 def: "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. (DO)" [PMID:37054711 "DO"] synonym: "NEDMLOB" EXACT [] xref: MIM:620428 xref: MONDO:0957386 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2023-11-30T15:38:52Z [Term] id: DOID:0081388 name: primary progressive aphasia alt_id: DOID:9008293 def: "A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993834/ "DO", PMID:21325651 "DO", PMID:29392464 "DO"] synonym: "Mesulam's Syndrome" EXACT [] synonym: "Mesulam Syndrome" EXACT [] synonym: "Primary Progressive Aphasias" EXACT [] synonym: "Primary Progressive Aphasia, Susceptibility To" RELATED [] xref: EFO:0009053 xref: GARD:8541 xref: MESH:D018888 xref: ORDO:95432 is_a: DOID:0060046 ! aphasia is_a: DOID:9255 ! frontotemporal dementia created_by: mtutaj creation_date: 2023-11-30T15:41:04Z [Term] id: DOID:0081389 name: logopenic progressive aphasia def: "A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. (DO)" [PMID:21325651 "DO"] synonym: "Logopenic primary progressive aphasia" EXACT [] synonym: "logopenic variant PPA" EXACT [] xref: GARD:10791 xref: ORDO:250831 is_a: DOID:0081388 ! primary progressive aphasia created_by: mtutaj creation_date: 2023-11-30T15:43:47Z [Term] id: DOID:0081390 name: progressive non-fluent aphasia alt_id: DOID:9003457 def: "A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. (DO)" [PMID:32047619 "DO"] synonym: "Agramatic variant of primary progressive aphasia" EXACT [] synonym: "nonfluent agrammatic PPA" EXACT [] synonym: "Non fluent Primary Progressive Aphasia" EXACT [] synonym: "PPA Syndrome" EXACT [] synonym: "PPA Syndromes" EXACT [] synonym: "Primary Progressive Nonfluent Aphasia" EXACT [] synonym: "Progressive Nonfluent Aphasia" EXACT [] synonym: "Progressive Nonfluent Aphasias" EXACT [] xref: GARD:10793 xref: MESH:D057178 xref: ORDO:100070 is_a: DOID:0081388 ! primary progressive aphasia is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration created_by: mtutaj creation_date: 2023-11-30T15:46:15Z [Term] id: DOID:0081391 name: semantic dementia def: "A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. (DO)" [PMID:28019640 "DO"] synonym: "semantic variant of primary progressive aphasia" EXACT [] synonym: "semantic variant PPA" EXACT [] xref: GARD:10792 xref: ORDO:100069 is_a: DOID:0081388 ! primary progressive aphasia created_by: mtutaj creation_date: 2023-11-30T15:48:10Z [Term] id: DOID:0081392 name: corticobasal degeneration syndrome def: "A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. (DO)" [PMID:34316603 "DO"] xref: ORDO:454887 is_a: DOID:9255 ! frontotemporal dementia created_by: mtutaj creation_date: 2023-11-30T15:50:11Z [Term] id: DOID:0081393 name: organophosphate-induced delayed polyneuropathy def: "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. (DO)" [https://www.atsdr.cdc.gov/csem/cholinesterase-inhibitors/neuropathy.html "DO", PMID:16042503 "DO"] xref: MONDO:0957912 is_a: DOID:1389 ! polyneuropathy is_a: DOID:2537 ! inflammatory and toxic neuropathy created_by: mtutaj creation_date: 2023-11-30T15:51:28Z [Term] id: DOID:0081394 name: Caroli syndrome def: "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK513307/ "DO", PMID:29643536 "DO", PMID:30020679 "DO"] synonym: "Caroli's syndrome" EXACT [] xref: GARD:6002 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:272 ! hepatic vascular disease is_a: DOID:4138 ! bile duct disease is_a: DOID:866 ! vein disease created_by: mtutaj creation_date: 2023-11-30T15:52:46Z [Term] id: DOID:0081395 name: Harel-Yoon syndrome alt_id: DOID:9006186 def: "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. (DO)" [PMID:27640307 "DO"] synonym: "ATAD3A-RELATED CONDITION" BROAD [] synonym: "HAYOS" EXACT [] synonym: "Ocular anomalies-axonal neuropathy-developmental delay syndrome" EXACT [] xref: MIM:617183 xref: ORDO:496790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2023-12-20T21:04:43Z [Term] id: DOID:0081396 name: neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome alt_id: DOID:9000870 def: "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. (DO)" [PMID:28549128 "DO"] synonym: "ATAD3A-RELATED CONDITION" BROAD [] synonym: "PHRINL" EXACT [] synonym: "PHRINL SYNDROME" EXACT [] xref: MIM:618810 xref: ORDO:615983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2023-12-20T21:06:57Z [Term] id: DOID:0081397 name: Vissers-Bodmer syndrome alt_id: DOID:9004008 def: "A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)" [PMID:32553196 "DO"] synonym: "CNOT1-RELATED DISORDER" BROAD [] synonym: "VIBOS" EXACT [] xref: MIM:619033 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:92 ! speech disorder created_by: mtutaj creation_date: 2023-12-20T21:09:50Z [Term] id: DOID:0081398 name: holoprosencephaly 12 alt_id: DOID:9004991 def: "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)" [PMID:31006510 "DO"] synonym: "CNOT1-RELATED DISORDER" BROAD [] synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT [] synonym: "HPE12" EXACT [] xref: MIM:618500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly created_by: mtutaj creation_date: 2023-12-20T21:11:44Z [Term] id: DOID:0081399 name: autosomal dominant distal hereditary motor neuronopathy 10 alt_id: DOID:9000162 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. (DO)" [PMID:31978608 "DO"] synonym: "DHMN10" EXACT [] synonym: "Distal Hereditary Motor Neuronopathy Type 10" EXACT [] synonym: "distal hereditary motor neuronopathy type X" EXACT [] synonym: "distal hereditary motor neuropathy 10" EXACT [] synonym: "distal hereditary motor neuropathy type X" EXACT [] synonym: "EMILIN1-RELATED CONDITION" BROAD [] synonym: "EMILIN-1-RELATED DISEASE" EXACT [] synonym: "HMN10" EXACT [] synonym: "HMND10" EXACT [] xref: MIM:620080 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T11:34:23Z [Term] id: DOID:0081400 name: autosomal dominant distal hereditary motor neuronopathy 11 alt_id: DOID:9005325 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [PMID:33206935 "DO"] synonym: "DHMN11" EXACT [] synonym: "distal hereditary motor neuronopathy 11" EXACT [] synonym: "distal hereditary motor neuropathy type 11" EXACT [] synonym: "HMND11" EXACT [] xref: MIM:620528 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T11:37:21Z [Term] id: DOID:0081401 name: autosomal dominant distal hereditary motor neuronopathy 13 alt_id: DOID:9006235 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. (DO)" [PMID:20806400 "DO"] synonym: "DHMN5C" EXACT [] synonym: "DHMN VC" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VC" EXACT [] synonym: "Distal Hereditary Motor Neuronopathy Type 5C" EXACT [] synonym: "distal hereditary motor neuronopathy type VC" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VC" EXACT [] synonym: "distal hereditary motor neuropathy type VC" EXACT [] synonym: "distal spinal muscular atrophy, Harding type VC" EXACT [] synonym: "distal spinal muscular atrophy type 5C" EXACT [] synonym: "distal spinal muscular atrophy type VC" EXACT [] synonym: "DSMA5C" EXACT [] synonym: "DSMAVC" EXACT [] synonym: "HMN5C" EXACT [] synonym: "HMND13" EXACT [] xref: MIM:619112 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T11:43:35Z [Term] id: DOID:0081402 name: sarcoma with BCOR genetic alterations def: "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. (DO)" [PMID:35730501 "DO", PMID:36202860 "DO"] synonym: "BCOR-Rearranged Sarcoma" EXACT [] xref: ICDO:9368/3 xref: MONDO:0958159 xref: NCI:C178465 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2024-01-31T11:46:26Z [Term] id: DOID:0081403 name: BCOR ITD sarcoma def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. (DO)" [PMID:36202860 "DO"] xref: NCI:C178468 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations created_by: mtutaj creation_date: 2024-01-31T11:47:23Z [Term] id: DOID:0081404 name: BCOR-CCNB3 sarcoma def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. (DO)" [PMID:36202860 "DO"] xref: NCI:C178466 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations created_by: mtutaj creation_date: 2024-01-31T11:48:21Z [Term] id: DOID:0081405 name: childhood sarcoma with BCOR genetic alterations def: "A sarcoma with BCOR genetic alterations that occurs during childhood. (DO)" [PMID:36202860 "DO"] xref: NCI:C189007 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations created_by: mtutaj creation_date: 2024-01-31T11:49:10Z [Term] id: DOID:0081406 name: round cell sarcoma with EWSR1-non-ETS fusion def: "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. (DO)" [PMID:35430129 "DO"] synonym: "Ewing-Like Sarcoma or Round Cell Sarcoma" EXACT [] synonym: "EWSR1-RELATED CONDITION" BROAD [] xref: ICDO:9366/3 xref: NCI:C178459 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2024-01-31T11:49:53Z [Term] id: DOID:0081407 name: childhood round cell sarcoma with EWSR1-non-ETS fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. (DO)" [PMID:36202860 "DO"] xref: MONDO:0958298 xref: NCI:C189003 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:50:50Z [Term] id: DOID:0081408 name: round cell sarcoma with EWSR1-NFATC2 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. (DO)" [PMID:35430129 "DO"] xref: NCI:C178460 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:51:39Z [Term] id: DOID:0081409 name: round cell sarcoma with EWSR1-PATZ1 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. (DO)" [PMID:30379650 "DO"] xref: NCI:C178461 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:52:38Z [Term] id: DOID:0081410 name: round cell sarcoma with FUS-NFATC2 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. (DO)" [PMID:31078563 "DO"] xref: NCI:C178462 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:53:27Z [Term] id: DOID:0081411 name: B-lymphoblastic leukemia with PAX5 p.P80R def: "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. (DO)" [PMID:30510083 "DO", PMID:32463891 "DO", PMID:36241730 "DO"] synonym: "B acute lymphoblastic leukemia with PAX5 P80R mutation" EXACT [] synonym: "B-lymphoblastic leukaemia with PAX5 p.P80R" EXACT [] synonym: "B-lymphoblastic leukemia with PAX5 P80R" EXACT [] xref: NCI:C199260 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-01-31T11:54:15Z [Term] id: DOID:0081412 name: B-lymphoblastic leukemia with DUX4 rearrangement def: "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. (DO)" [PMID:36602820 "DO"] synonym: "B acute lymphoblastic leukemia with DUX4 rearrangement" EXACT [] synonym: "B-lymphoblastic leukaemia with DUX4 rearrangement" EXACT [] xref: NCI:C199232 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-01-31T11:55:11Z [Term] id: DOID:0081413 name: renal cell carcinoma with MiT translocations def: "A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. (DO)" [PMID:25758327 "DO", PMID:31382581 "DO", PMID:36672892 "DO", PMID:37060647 "DO"] synonym: "MiT Family Translocation-Associated Renal Cell Carcinoma" EXACT [] synonym: "MiT family translocation renal cell carcinoma" EXACT [] xref: ICDO:8311/3 xref: NCI:C154494 is_a: DOID:4450 ! renal cell carcinoma created_by: mtutaj creation_date: 2024-01-31T11:56:04Z [Term] id: DOID:0081414 name: TFEB-rearranged renal cell carcinoma def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. (DO)" [PMID:36830782 "DO"] synonym: "Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB" EXACT [] synonym: "t(6;11);(p21;q12) Renal Cell Carcinoma" EXACT [] synonym: "t(6;11) Renal Cell Carcinoma" EXACT [] xref: NCI:C37210 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations created_by: mtutaj creation_date: 2024-01-31T11:57:03Z [Term] id: DOID:0081415 name: TFE3-rearranged renal cell carcinoma def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. (DO)" [PMID:38104891 "DO"] synonym: "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" EXACT [] synonym: "Xp11 Translocation Renal Cell Carcinoma" EXACT [] xref: EFO:1000508 xref: NCI:C27891 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations created_by: mtutaj creation_date: 2024-01-31T11:57:55Z [Term] id: DOID:0081416 name: childhood renal cell carcinoma with MiT translocations def: "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. (DO)" [PMID:37528880 "DO"] xref: NCI:C189242 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations created_by: mtutaj creation_date: 2024-01-31T11:58:44Z [Term] id: DOID:0081417 name: poorly differentiated chordoma def: "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. (DO)" [PMID:29483606 "DO", PMID:34482218 "DO"] xref: ICDO:9370/3 xref: NCI:C177898 is_a: DOID:3302 ! chordoma created_by: mtutaj creation_date: 2024-01-31T11:59:30Z [Term] id: DOID:0081418 name: anaplastic sarcoma of the kidney def: "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. (DO)" [PMID:17895746 "DO", PMID:27006300 "DO", PMID:28862265 "DO"] xref: ICDO:8802/3 xref: NCI:C154496 is_a: DOID:4242 ! kidney sarcoma created_by: mtutaj creation_date: 2024-01-31T12:00:28Z [Term] id: DOID:0081419 name: childhood-onset dystonia with optic atrophy and basal ganglia abnormalities alt_id: DOID:9003458 def: "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. (DO)" [PMID:27817865 "DO"] synonym: "DYSTONIA 29, CHILDHOOD-ONSET" EXACT [] synonym: "DYT29" EXACT [] synonym: "DYTOABG" EXACT [] synonym: "MECR-related condition" BROAD [] synonym: "MECR-related neurologic disorder" EXACT [] synonym: "MEPAN syndrome" EXACT [] synonym: "mitochondrial enoyl CoA reductase protein-associated neurodegeneration" EXACT [] xref: GARD:13488 xref: MIM:617282 xref: MONDO:0015003 xref: ORDO:508093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia is_a: DOID:5723 ! optic atrophy is_a: DOID:679 ! basal ganglia disease created_by: mtutaj creation_date: 2024-01-31T12:01:39Z [Term] id: DOID:0081420 name: familial focal epilepsy with variable foci def: "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK385626/ "DO"] synonym: "DEPDC5-related epilepsy" EXACT [] synonym: "FFEVF" EXACT [] synonym: "FPEVF" EXACT [] xref: GARD:13295 xref: MIM:PS604364 xref: ORDO:98820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2234 ! focal epilepsy created_by: mtutaj creation_date: 2024-01-31T12:04:22Z [Term] id: DOID:0081421 name: familial focal epilepsy with variable foci 1 alt_id: DOID:9001601 alt_id: MIM:604364 def: "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO)" [PMID:32848577 "DO"] synonym: "DEPDC5-related disorder" BROAD [] synonym: "FFEVF1" EXACT [] synonym: "partial epilepsy with variable foci" EXACT [] xref: MESH:C565785 xref: NCI:C161005 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:06:30Z [Term] id: DOID:0081422 name: familial focal epilepsy with variable foci 2 alt_id: DOID:9000342 def: "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. (DO)" [PMID:26505888 "DO"] synonym: "FFEVF2" EXACT [] synonym: "NPRL2-RELATED CONDITION" EXACT [] xref: MIM:617116 xref: NCI:C206114 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:06:44Z [Term] id: DOID:0081423 name: familial focal epilepsy with variable foci 3 alt_id: DOID:9006565 def: "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. (DO)" [PMID:26505888 "DO"] synonym: "FFEVF3" EXACT [] synonym: "NPRL3-RELATED CONDITION" EXACT [] xref: MIM:617118 xref: NCI:C217086 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:06:53Z [Term] id: DOID:0081424 name: familial focal epilepsy with variable foci 4 alt_id: DOID:9009166 def: "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)" [PMID:28235671 "DO"] synonym: "FFEVF4" EXACT [] synonym: "SCN3A-RELATED CONDITION" BROAD [] synonym: "SCN3A-related disorder" BROAD [] xref: MIM:617935 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:07:18Z [Term] id: DOID:0081425 name: autosomal recessive distal hereditary motor neuronopathy 6 alt_id: DOID:9003231 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. (DO)" [PMID:31872057 "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 6" EXACT [] synonym: "distal spinal muscular atrophy, autosomal recessive, 6" EXACT [] synonym: "Distal Spinal Muscular Atrophy Type 6" EXACT [] synonym: "DSMA6" EXACT [] synonym: "HMNR6" EXACT [] xref: MIM:620011 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T12:16:45Z [Term] id: DOID:0081426 name: autosomal recessive distal hereditary motor neuronopathy 7 alt_id: DOID:9000655 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. (DO)" [PMID:33459760 "DO", PMID:33559681 "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 7" EXACT [] synonym: "hereditary motor neuropathy with myopathic features" EXACT [] synonym: "HMNMYO" EXACT [] synonym: "HMNR7" EXACT [] xref: MIM:619216 xref: MONDO:0030977 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy is_a: DOID:9884 ! muscular dystrophy created_by: mtutaj creation_date: 2024-01-31T12:18:54Z [Term] id: DOID:0081427 name: autosomal recessive distal hereditary motor neuronopathy 8 alt_id: DOID:0080025 alt_id: DOID:0081376 alt_id: DOID:9006739 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. (DO)" [PMID:32367058 "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 8" EXACT [] synonym: "HMNR8" EXACT [] synonym: "sorbitol dehydrogenase deficiency" EXACT [] synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [] synonym: "SORDD" EXACT [] xref: MIM:618912 xref: MONDO:0030055 xref: NCI:C206095 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy is_a: DOID:9006079 ! Inherited Peripheral Neuropathy created_by: mtutaj creation_date: 2024-01-31T12:20:36Z [Term] id: DOID:0081428 name: autosomal recessive distal hereditary motor neuronopathy 9 alt_id: DOID:9006160 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. (DO)" [PMID:36454683 "DO"] synonym: "COQ7-RELATED CONDITION" BROAD [] synonym: "distal hereditary motor neuropathy, autosomal recessive 9" EXACT [] synonym: "HMNR9" EXACT [] xref: MIM:620402 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T12:23:58Z [Term] id: DOID:0081429 name: autosomal recessive distal hereditary motor neuronopathy 10 alt_id: DOID:9003914 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. (DO)" [PMID:35641352 "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 10" EXACT [] synonym: "HMNR10" EXACT [] synonym: "VRK1-related motor neuron disease" EXACT [] xref: MIM:620542 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T12:25:24Z [Term] id: DOID:0081430 name: intellectual developmental disorder with autistic features and language delay, with or without seizures alt_id: DOID:9008432 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. (DO)" [PMID:31616000 "DO"] synonym: "IDDALDS" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES" NARROW [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES" NARROW [] synonym: "TANC2-RELATED CONDITION" EXACT [] xref: MIM:618906 is_a: DOID:0060041 ! autism spectrum disorder is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2024-02-28T17:17:30Z [Term] id: DOID:0081431 name: microcephaly, short stature, and limb abnormalities alt_id: DOID:9002832 def: "An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. (DO)" [PMID:28191891 "DO"] synonym: "DONSON-RELATED CONDITION" BROAD [] synonym: "DONSON-related microcephaly-short stature-limb abnormalities spectrum" EXACT [] synonym: "MISSLA" EXACT [] xref: MIM:617604 xref: ORDO:572761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2024-04-01T11:33:01Z [Term] id: DOID:0081432 name: microcephaly-micromelia syndrome alt_id: DOID:9002621 alt_id: MIM:251230 def: "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. (DO)" [PMID:28630177 "DO"] synonym: "DONSON-RELATED CONDITION" BROAD [] xref: MESH:C565382 xref: ORDO:572768 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2024-04-01T11:35:49Z [Term] id: DOID:0081433 name: Peroxisome biogenesis disorder 4B alt_id: DOID:0111612 alt_id: DOID:9002864 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC4970675/ "DO", PMID:22871920 "DO"] synonym: "autosomal recessive spinocerebellar ataxia 3" RELATED [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" BROAD [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" BROAD [] synonym: "autosomal recessive spinocerebellar ataxia type 3" RELATED [] synonym: "PBD4B" EXACT [] synonym: "SCABD" BROAD [] synonym: "SCABD1" EXACT [] synonym: "SCAR3" RELATED [] synonym: "spinocerebellar ataxia with blindness and deafness 1" EXACT [] xref: GARD:9971 xref: MESH:C537309 xref: MIM:614863 xref: MONDO:0013931 xref: ORDO:95433 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:38:10Z [Term] id: DOID:0081434 name: Peroxisome biogenesis disorder 5B alt_id: DOID:9008800 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. (DO)" [PMID:22871920 "DO"] synonym: "PBD5B" EXACT [] synonym: "PEX2-RELATED CONDITION" BROAD [] xref: MIM:614867 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:43:30Z [Term] id: DOID:0081435 name: Peroxisome biogenesis disorder 6B alt_id: DOID:9006522 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)" [PMID:22871920 "DO"] synonym: "PBD6B" EXACT [] xref: MIM:614871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:44:49Z [Term] id: DOID:0081436 name: Peroxisome biogenesis disorder 7B alt_id: DOID:9002413 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. (DO)" [PMID:22871920 "DO"] synonym: "PBD7B" EXACT [] xref: MIM:614873 xref: NCI:C155761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:45:59Z [Term] id: DOID:0081437 name: Peroxisome biogenesis disorder 8B alt_id: DOID:9004875 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)" [PMID:22871920 "DO"] synonym: "PBD8B" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT" BROAD [] synonym: "PEX16-RELATED DISORDER" BROAD [] xref: MIM:614877 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:47:17Z [Term] id: DOID:0081438 name: Peroxisome biogenesis disorder 9B alt_id: DOID:9006365 alt_id: MIM:614879 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. (DO)" [PMID:12325024 "DO"] synonym: "Adult Refsum Disease, 2" EXACT [] synonym: "PBD9B" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL" EXACT [] synonym: "PEX7-RELATED DISORDER" BROAD [] xref: MESH:C567603 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10582 ! Refsum disease is_a: DOID:9004029 ! Peroxisome Biogenesis Disorder, Complementation Group 9 created_by: mtutaj creation_date: 2024-04-01T11:49:14Z [Term] id: DOID:0081439 name: Peroxisome biogenesis disorder 11B alt_id: DOID:9005083 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)" [PMID:22871920 "DO"] synonym: "PBD11B" EXACT [] synonym: "PEX13-RELATED DISORDER" BROAD [] xref: MIM:614885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:51:44Z [Term] id: DOID:0081440 name: Peroxisome biogenesis disorder 10B alt_id: DOID:9006868 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. (DO)" [PMID:22871920 "DO"] synonym: "PBD10B" EXACT [] synonym: "PEX3-RELATED CONDITION" BROAD [] xref: MIM:617370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:53:08Z [Term] id: DOID:0081441 name: Nicolaides-Baraitser syndrome alt_id: DOID:9003531 def: "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK321516/ "DO", PMID:19606471 "DO"] synonym: "Intellectual disability-sparse hair-brachydactyly syndrome" EXACT [] synonym: "NBS" EXACT [] synonym: "NCBRS" EXACT [] synonym: "SMARCA2-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA2-RELATED CONDITION" BROAD [] synonym: "sparse hair and mental retardation" EXACT [] synonym: "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME" EXACT [] xref: GARD:270 xref: MESH:C536116 xref: MIM:601358 xref: NCI:C205644 xref: ORDO:3051 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:4535 ! hypotrichosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2024-04-01T11:54:35Z [Term] id: DOID:0081442 name: blepharophimosis-impaired intellectual development syndrome alt_id: DOID:9008618 def: "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)" [PMID:32694869 "DO"] synonym: "BIS" EXACT [] synonym: "SMARCA2-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT [] synonym: "SMARCA2-RELATED CONDITION" BROAD [] xref: MIM:619293 xref: ORDO:637013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10348 ! blepharophimosis is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2024-04-01T11:56:28Z [Term] id: DOID:0081443 name: Stolerman neurodevelopmental syndrome alt_id: DOID:9007117 def: "A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. (DO)" [PMID:31124279 "DO", PMID:37196654 "DO"] synonym: "KDM6B-RELATED CONDITION" EXACT [] synonym: "NEDCFSA" EXACT [] synonym: "NEDSST" EXACT [] synonym: "Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities" EXACT [] xref: MIM:618505 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2024-04-01T11:58:03Z [Term] id: DOID:0081444 name: neurodevelopmental disorder with poor growth and behavioral abnormalities alt_id: DOID:9000845 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. (DO)" [PMID:34379057 "DO", PMID:36604604 "DO"] synonym: "NEDGBA" EXACT [] xref: MIM:620242 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2024-04-01T11:59:56Z [Term] id: DOID:0081445 name: sickle cell disease def: "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). (DO)" [https://medlineplus.gov/genetics/condition/sickle-cell-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK1377/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK482164/ "DO"] synonym: "sickle cell diseases" EXACT [] synonym: "sickle cell disorder" EXACT [] synonym: "sickle cell disorders" EXACT [] xref: ICD10CM:D57 xref: ICD9CM:282.6 xref: MIM:603903 xref: NCI:C34383 is_a: DOID:2860 ! hemoglobinopathy is_a: DOID:620 ! blood protein disease created_by: mtutaj creation_date: 2024-05-01T11:29:38Z [Term] id: DOID:0081446 name: dimethylglycine dehydrogenase deficiency alt_id: DOID:9005574 def: "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14. (DO)" [PMID:10102904 "DO", PMID:11231903 "DO"] synonym: "DMG dehydrogenase deficiency" EXACT [] synonym: "DMGDHD" EXACT [] synonym: "DMGDH Deficiency" EXACT [] synonym: "DMGDH-RELATED CONDITION" EXACT [] xref: MESH:C565278 xref: MIM:605850 xref: MONDO:0011610 xref: ORDO:243343 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-05-01T11:37:30Z [Term] id: DOID:0081447 name: cone-rod dystrophy 21 alt_id: DOID:9005737 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. (DO)" [PMID:26720460 "DO"] synonym: "CORD21" EXACT [] synonym: "DRAM2-RELATED DISORDER" EXACT [] synonym: "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" BROAD [] xref: MIM:616502 xref: MONDO:0014669 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2024-05-01T11:46:36Z [Term] id: DOID:0081448 name: cone-rod dystrophy 22 alt_id: DOID:9007876 def: "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. (DO)" [PMID:33077892 "DO"] synonym: "CORD22" EXACT [] xref: MIM:619531 xref: MONDO:0030440 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2024-05-01T11:49:44Z [Term] id: DOID:0081449 name: cone-rod dystrophy 24 alt_id: DOID:9005636 def: "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. (DO)" [PMID:35947183 "DO"] synonym: "CORD24" EXACT [] synonym: "UNC119-RELATED CONDITION" BROAD [] xref: MIM:620342 xref: MONDO:0957240 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2024-05-01T11:52:22Z [Term] id: DOID:0081450 name: hyperimmunoglobulinemia D periodic fever syndrome def: "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. (DO)" [https://www.nomidalliance.org/hids.php "DO", PMID:22041426 "DO"] synonym: "hyper IgD syndrome" EXACT [] synonym: "hyper IgD syndromes" EXACT [] synonym: "hyperimmunoglobulinemia D" EXACT [] synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" EXACT [] synonym: "periodic fever, Dutch type" EXACT [] xref: GARD:2788 xref: MIM:260920 xref: MONDO:0009849 xref: ORDO:343 is_a: DOID:2959 ! hyperimmunoglobulin syndrome created_by: mtutaj creation_date: 2024-05-01T11:55:13Z [Term] id: DOID:0081451 name: PFAPA syndrome alt_id: DOID:9007906 def: "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8356195/ "DO", https://www.nomidalliance.org/pfapa.php "DO"] synonym: "Marshall syndrome with periodic fever" EXACT [] synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis" EXACT [] synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis syndrome" EXACT [] synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome" EXACT [] synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [] synonym: "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [] synonym: "PFAPA" EXACT [] xref: GARD:5657 xref: MONDO:0018540 xref: ORDO:42642 is_a: DOID:417 ! autoimmune disease is_a: DOID:9000972 ! Fever is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2024-05-01T12:04:04Z [Term] id: DOID:0081452 name: large B-cell lymphoma def: "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. (DO)" [PMID:37190213 "DO"] is_a: DOID:707 ! B-cell lymphoma created_by: mtutaj creation_date: 2024-04-30T16:42:46Z [Term] id: DOID:0081453 name: Dent disease 1 alt_id: DOID:9008579 def: "A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK99494/ "DO", PMID:32248351 "DO"] synonym: "DENT1" EXACT [] synonym: "Hypercalciuric Urolithiasis, X-Linked" EXACT [] synonym: "Nephrolithiasis 2" EXACT [] synonym: "Nephrolithiasis, hypercalciuria, x-linked" EXACT [] synonym: "Nephrolithiasis, Hypercalciuric, X-Linked" EXACT [] synonym: "NPHL2" EXACT [] xref: MESH:C538212 xref: MIM:300009 xref: MONDO:0010225 xref: ORDO:93622 is_a: DOID:0050699 ! Dent disease created_by: mtutaj creation_date: 2024-06-21T11:20:10Z [Term] id: DOID:0081454 name: Dent disease 2 alt_id: DOID:9007045 def: "A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. (DO)" [PMID:15627218 "DO"] synonym: "DENT2" EXACT [] synonym: "dent disease type 2" EXACT [] xref: MESH:C564487 xref: MIM:300555 xref: MONDO:0010359 is_a: DOID:0050699 ! Dent disease created_by: mtutaj creation_date: 2024-06-21T12:25:23Z [Term] id: DOID:0081455 name: auto-brewery syndrome def: "An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. (DO)" [https://en.wikipedia.org/wiki/Auto-brewery_syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK513346/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667719/ "DO", PMID:38246992 "DO"] synonym: "gut fermentation syndrome" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease created_by: mtutaj creation_date: 2024-07-01T09:22:28Z [Term] id: DOID:0081456 name: bladder fermentation syndrome def: "An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. (DO)" [PMID:38246992 "DO"] synonym: "urinary auto-brewery syndrome" EXACT [] is_a: DOID:0081455 ! auto-brewery syndrome is_a: DOID:365 ! bladder disease created_by: mtutaj creation_date: 2024-07-01T09:24:48Z [Term] id: DOID:0081457 name: intrathyroid thymic carcinoma def: "A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. (DO)" [PMID:37925863 "DO"] synonym: "Carcinoma showing thymus-like differentiation" EXACT [] synonym: "Carcinoma showing thymus-like element" EXACT [] synonym: "CASTLE" EXACT [] synonym: "Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation" EXACT [] xref: ICDO:8589/3 xref: NCI:C46106 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:28:21Z [Term] id: DOID:0081458 name: thyroid gland cribriform morular carcinoma def: "A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. (DO)" [PMID:35882545 "DO"] synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Cancer" EXACT [] synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma" EXACT [] xref: NCI:C126408 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:30:19Z [Term] id: DOID:0081459 name: thyroid gland mixed medullary and follicular cell-derived carcinoma def: "A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. (DO)" [PMID:20574174 "DO"] synonym: "mixed medullary and follicular cell-derived carcinomas" EXACT [] synonym: "thyroid gland mixed medullary and follicular cell carcinoma" EXACT [] xref: EFO:1000589 xref: NCI:C46104 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:33:00Z [Term] id: DOID:0081460 name: thyroid gland mucinous carcinoma def: "A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. (DO)" [PMID:24466763 "DO"] xref: NCI:C156267 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:34:11Z [Term] id: DOID:0081461 name: thyroid gland spindle epithelial tumor with thymus-like elements def: "A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. (DO)" [PMID:21085772 "DO"] synonym: "SETTLE" EXACT [] synonym: "Spindle Epithelial Tumor with Thymus-Like Elements" EXACT [] synonym: "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" EXACT [] xref: EFO:1000593 xref: NCI:C46105 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:36:14Z [Term] id: DOID:0090001 name: Fraser syndrome def: "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (DO)" [PMID:12766769 "DO", PMID:15838507 "DO", PMID:16894541 "DO", PMID:22510445 "DO"] synonym: "cryptophthalmos-syndactyly syndrome" EXACT [] synonym: "cryptophthalmos with other malformations" EXACT [] synonym: "GRIP1-related condition" BROAD [] xref: GARD:6465 xref: MESH:D058497 xref: MIM:PS219000 xref: MONDO:0009046 xref: NCI:C118436 xref: ORDO:2052 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111716 ! cryptophthalmia is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:0090002 name: Tietz syndrome def: "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. (DO)" [https://ghr.nlm.nih.gov/condition/tietz-syndrome "DO", PMID:13985019 "DO", PMID:8589691 "DO"] synonym: "albinism and complete nerve deafness" EXACT [] synonym: "albinism-deafness of Tietz" EXACT [] synonym: "hypopigmentation-deafness of Tietz" EXACT [] synonym: "TADS" EXACT [] synonym: "Tietz albinism-deafness syndrome" EXACT [] xref: GARD:7772 xref: MESH:C536919 xref: MIM:103500 xref: MONDO:0007077 xref: ORDO:42665 is_a: DOID:0050632 ! oculocutaneous albinism is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness [Term] id: DOID:0090003 name: agenesis of the corpus callosum with peripheral neuropathy alt_id: DOID:0060600 def: "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (DO)" [PMID:12368912 "DO", PMID:12838516 "DO"] synonym: "ACCPN" EXACT [] synonym: "agenesis of corpus callosum with neuronopathy" EXACT [] synonym: "agenesis of corpus callosum with peripheral neuropathy" EXACT [] synonym: "Agenesis of Corpus Callosum with Polyneuropathy" EXACT [] synonym: "Andermann syndrome" EXACT [] synonym: "Charlevoix disease" EXACT [] synonym: "Corpus Callosum Agenesis Neuronopathy" EXACT [] synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [] synonym: "hereditary motor and sensory neuropathy with agenesis of corpus callosum" EXACT [] synonym: "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" EXACT [] synonym: "sensorimotor polyneuropathy with or without agenesis of the corpus callosum" EXACT [] xref: MESH:C536446 xref: MIM:218000 xref: MONDO:0000902 xref: ORDO:1496 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:870 ! neuropathy is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0090004 name: progressive pseudorheumatoid arthropathy of childhood alt_id: MIM:208230 def: "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. (DO)" [PMID:15215498 "DO", PMID:15601861 "DO", PMID:6807993 "DO"] synonym: "CCN6-RELATED CONDITION" EXACT [] synonym: "PPAC" EXACT [] synonym: "PPD" EXACT [] synonym: "progressive pseudorheumatoid dysplasia" EXACT [] synonym: "SEDT-PA" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" EXACT [] xref: MESH:C535387 xref: NCI:C202612 xref: ORDO:1159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:381 ! arthropathy [Term] id: DOID:0090005 name: Schwartz-Jampel syndrome 1 alt_id: DOID:9000985 alt_id: MESH:C565452 alt_id: MIM:245160 def: "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (DO)" [PMID:11941538 "DO", PMID:1552548 "DO", PMID:18647752 "DO"] synonym: "Aberfeld syndrome" EXACT [] synonym: "Burton skeletal dysplasia" EXACT [] synonym: "Burton syndrome" EXACT [] synonym: "Catel-Hempel syndrome" EXACT [] synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [] synonym: "HSPG2-RELATED CONDITION" BROAD [] synonym: "HSPG2-RELATED DISORDER" BROAD [] synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT [] synonym: "myotonic chondrodystrophy" EXACT [] synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [] synonym: "osteochondromuscular dystrophy" EXACT [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN" RELATED [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN" RELATED [] synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [] synonym: "Schwartz Jampel syndrome" EXACT [] synonym: "Schwartz-Jampel syndrome, type 1" EXACT [] synonym: "SJS" EXACT [] synonym: "SJS1" EXACT [] xref: GARD:250 xref: MIM:255800 xref: NCI:C35008 xref: ORDO:800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9004201 ! Ectopia Lentis is_a: DOID:9008499 ! Microstomia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0090006 name: renal coloboma syndrome alt_id: MIM:120330 def: "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)" [PMID:10466411 "DO", PMID:7795640 "DO"] synonym: "CAKUT with or without ocular abnormalities" EXACT [] synonym: "coloboma of optic nerve with renal disease" EXACT [] synonym: "Coloboma-Ureteral-Renal Syndrome" EXACT [] synonym: "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES" EXACT [] synonym: "isolated renal hypoplasia" EXACT [] synonym: "Optic coloboma, vesicoureteral reflux, and renal anomalies" EXACT [] synonym: "Optic Nerve Coloboma Renal Syndrome" EXACT [] synonym: "Optic nerve coloboma with renal disease" EXACT [] synonym: "Papillorenal syndrome" EXACT [] synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [] synonym: "Papillorenal syndrome with macular abnormalities" NARROW [] synonym: "PAPRS" EXACT [] synonym: "PAX2-RELATED CONDITION" BROAD [] synonym: "PAX2-RELATED DISORDER" BROAD [] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [] xref: GARD:4106 xref: MESH:C537168 xref: ORDO:1475 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080205 ! CAKUT is_a: DOID:1074 ! kidney failure is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome [Term] id: DOID:0090007 name: immunodeficiency-centromeric instability-facial anomalies syndrome def: "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (DO)" [PMID:17893117 "DO", PMID:26216346 "DO"] synonym: "centromeric instability, immunodeficiency syndrome" EXACT [] synonym: "ICF syndrome" EXACT [] synonym: "immunodeficiency syndrome, variable" EXACT [] xref: MESH:C537362 xref: MIM:PS242860 xref: ORDO:2268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004814 ! Chromosome Aberrations is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0090008 name: immunodeficiency-centromeric instability-facial anomalies syndrome 1 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (DO)" [PMID:10647011 "DO", PMID:17893117 "DO"] synonym: "CENTROMERIC INSTABILITY OF CHROMOSOMES 1,9 AND 16 AND IMMUNODEFICIENCY" EXACT [] synonym: "CIID" EXACT [] synonym: "ICF1" EXACT [] synonym: "ICF syndrome 1" EXACT [] synonym: "IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16" EXACT [] xref: MIM:242860 xref: NCI:C156430 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090009 name: immunodeficiency-centromeric instability-facial anomalies syndrome 2 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. (DO)" [PMID:21596365 "DO"] synonym: "ICF2" EXACT [] synonym: "ICF syndrome 2" EXACT [] synonym: "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME TYPE 2" EXACT [] synonym: "ZBTB24-related condition" BROAD [] xref: MIM:614069 xref: MONDO:0013553 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090010 name: immunodeficiency-centromeric instability-facial anomalies syndrome 3 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. (DO)" [PMID:26216346 "DO"] synonym: "CDCA7-related condition" EXACT [] synonym: "ICF3" EXACT [] synonym: "ICF syndrome 3" EXACT [] xref: MIM:616910 xref: MONDO:0014828 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090011 name: immunodeficiency-centromeric instability-facial anomalies syndrome 4 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. (DO)" [PMID:26216346 "DO"] synonym: "HELLS-RELATED CONDITION" EXACT [] synonym: "ICF4" EXACT [] synonym: "ICF syndrome 4" EXACT [] xref: ICD10CM:D84.8 xref: MIM:616911 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090012 name: severe combined immunodeficiency with sensitivity to ionizing radiation alt_id: DOID:0060006 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. (DO)" [PMID:11336668 "DO"] synonym: "artemis deficiency" EXACT [] synonym: "Athabaskan severe combined immunodeficiency" EXACT [] synonym: "partial severe combined immunodeficiency" NARROW [] synonym: "RS-SCID" EXACT [] synonym: "SCIDA" EXACT [] synonym: "SCID, Athabascan type" EXACT [] synonym: "SCID, Athabaskan type" EXACT [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" EXACT [] synonym: "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE" NARROW [] synonym: "SCID due to artemis deficiency" EXACT [] synonym: "SCID due to DCLRE1C deficiency" EXACT [] synonym: "severe combined immunodeficiency, Athabascan type" EXACT [] synonym: "severe combined immunodeficiency, Athabaskan type" EXACT [] synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [] synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT [] xref: ICD10CM:D81.1 xref: MESH:C536786 xref: MESH:C537589 xref: MIM:602450 xref: MONDO:0011225 xref: NCI:C162694 xref: ORDO:275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090013 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)" [PMID:1940786 "DO"] synonym: "ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY" EXACT [] synonym: "SCID due to complete RAG1-2 deficiency" EXACT [] synonym: "SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive" EXACT [] synonym: "severe combined immunodeficiency, B cell-negative" EXACT [] synonym: "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive" EXACT [] synonym: "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [] synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [] synonym: "severe immunodeficiency, T-cell negative, B-cell negative, NK cell-positive, autosomal recessive" EXACT [] xref: MESH:C563311 xref: MIM:601457 xref: MONDO:0011086 xref: OMIA:001574 xref: OMIA:001986 xref: ORDO:331206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090014 name: severe combined immunodeficiency 104 alt_id: DOID:0060015 alt_id: DOID:9000795 def: "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. (DO)" [PMID:15661025 "DO", PMID:9068311 "DO", PMID:9843216 "DO"] synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [] synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [] synonym: "IL-7R" EXACT [] synonym: "IL7R-related condition" BROAD [] synonym: "IMD104" EXACT [] synonym: "immunodeficiency 104" EXACT [] synonym: "interleukin-7 receptor alpha deficiency" EXACT [] synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" EXACT [] xref: ICD10CM:D81.2 xref: MESH:C563822 xref: MIM:608971 xref: MONDO:0012163 xref: ORDO:169154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090015 name: Cenani-Lenz syndactyly syndrome def: "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [PMID:18978656 "DO", PMID:20381006 "DO", PMID:6279340 "DO"] synonym: "Cenani-Lenz Syndactyly" EXACT [] synonym: "Cenani syndactylism" EXACT [] synonym: "CLSS" EXACT [] synonym: "syndactyly, Cenani-Lenz type" EXACT [] synonym: "Syndactyly type 7" EXACT [] synonym: "syndactyly type VII" EXACT [] xref: GARD:5084 xref: MESH:C538150 xref: MIM:212780 xref: MONDO:0008931 xref: ORDO:3258 is_a: DOID:11193 ! syndactyly is_a: DOID:1934 ! dysostosis is_a: DOID:630 ! genetic disease [Term] id: DOID:0090016 name: chromosome 5q deletion syndrome alt_id: MIM:153550 def: "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. (DO)" [PMID:18202658 "DO", PMID:19898489 "DO", PMID:25920683 "DO"] synonym: "5q deletion syndrome" EXACT [] synonym: "5q- syndrome" EXACT [] synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [] synonym: "MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED" NARROW [] synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [] synonym: "refractory macrocytic anemia due to 5q deletion" NARROW [] xref: GARD:10840 xref: ICD10CM:D46.7 xref: MESH:C535323 xref: ORDO:86841 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:2361 ! macrocytic anemia [Term] id: DOID:0090017 name: epidermolysis bullosa simplex with muscular dystrophy alt_id: MIM:226670 def: "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)" [PMID:2662909 "DO", PMID:8696340 "DO"] synonym: "EBS5B" EXACT [] synonym: "EBSMD" EXACT [] synonym: "epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED [] synonym: "epidermolysis bullosa simplex 5B with muscular dystrophy" EXACT [] synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [] synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [] synonym: "MD-EBS" EXACT [] synonym: "MDEBS" EXACT [] xref: MESH:C535955 xref: ORDO:257 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:225 ! syndrome is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0090018 name: TNF receptor-associated periodic syndrome def: "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10199409 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7156325 "DO", https://www.nomidalliance.org/traps.php "DO"] synonym: "autosomal dominant familial periodic fever" EXACT [] synonym: "familial hibernian fever" EXACT [] synonym: "FHF" EXACT [] synonym: "FPF" EXACT [] synonym: "hibernian fever" EXACT [] synonym: "TNF receptor 1-associated periodic syndrome" EXACT [] synonym: "TNF receptor-associated periodic fever syndrome (TRAPS)" EXACT [] synonym: "TNF receptor-associated periodic syndrome (TRAPS)" EXACT [] synonym: "TNFRSF1A-RELATED CONDITION" BROAD [] synonym: "TRAPS" EXACT [] synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [] synonym: "tumor necrosis factor receptor-associated periodic syndrome" EXACT [] xref: GARD:8457 xref: ICD10CM:E85.0 xref: MESH:C536657 xref: MIM:142680 xref: MONDO:0007727 xref: ORDO:32960 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:0090019 name: sitosterolemia def: "An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia. (DO)" [https://medlineplus.gov/genetics/condition/sitosterolemia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK572142/ "DO", PMID:11099417 "DO", PMID:11138003 "DO"] synonym: "phytosterolemia" EXACT [] synonym: "plant sterol storage disease" EXACT [] synonym: "pseudohomozygous familial hypercholesterolemia" EXACT [] synonym: "STSL" EXACT [] xref: GARD:7653 xref: MESH:C537345 xref: MIM:PS210250 xref: MONDO:0008863 xref: NCI:C125694 xref: ORDO:2882 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease is_a: DOID:9000808 ! Hypercholesterolemia [Term] id: DOID:0090020 name: split hand-foot malformation alt_id: MESH:C574275 def: "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)" [PMID:12668597 "DO", PMID:7802032 "DO"] synonym: "ECD" RELATED [] synonym: "ectrodactyly" RELATED [] synonym: "lobster-claw deformity" EXACT [] synonym: "split hand/foot malformation" EXACT [] synonym: "split-hand deformity" EXACT [] synonym: "split hand foot deformity" EXACT [] xref: GARD:6319 xref: MESH:C535777 xref: MIM:PS183600 xref: ORDO:2440 is_a: DOID:0080006 ! bone development disease is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0090021 name: split hand-foot malformation 1 def: "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. (DO)" [PMID:24496061 "DO", PMID:7616545 "DO"] synonym: "DLX5-RELATED CONDITION" BROAD [] synonym: "DLX6-RELATED CONDITION" EXACT [] synonym: "SHFD1" EXACT [] synonym: "SHFM1" EXACT [] synonym: "SHSF1" EXACT [] synonym: "split-hand/foot malformation 1 with or without deafness" EXACT [] synonym: "split hand foot deformity 1" EXACT [] xref: MIM:183600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090020 ! split hand-foot malformation created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0090022 name: split hand-foot malformation 5 alt_id: MIM:606708 def: "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. (DO)" [PMID:10364522 "DO"] synonym: "SHFM5" EXACT [] xref: ICD10CM:Q71.6 xref: ICD10CM:Q71.60 xref: MESH:C564674 xref: NCI:C75000 is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090023 name: split hand-foot malformation 4 def: "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [PMID:10839977 "DO"] synonym: "SHFM4" EXACT [] xref: MESH:C565344 xref: MIM:605289 xref: MONDO:0011535 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090024 name: split hand-foot malformation 1 with sensorineural hearing loss def: "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)" [PMID:22121204 "DO"] synonym: "congenital deafness and split hands and feet" EXACT [] synonym: "congenital deafness with split hands and feet" EXACT [] synonym: "DLX5-RELATED CONDITION" BROAD [] synonym: "SHFM1D" EXACT [] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" EXACT [] xref: MESH:C565647 xref: MIM:220600 xref: MONDO:0009080 xref: ORDO:71271 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0090025 name: split hand-foot malformation 3 alt_id: MIM:246560 def: "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)" [PMID:14699611 "DO"] synonym: "chromosome 10q24 duplication syndrome" EXACT [] synonym: "distal limb deficiencies with micrognathia" EXACT [] synonym: "SHFM3" EXACT [] synonym: "SHSF3" EXACT [] xref: MESH:C565437 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0090026 name: split hand-foot malformation 6 alt_id: MIM:225300 def: "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. (DO)" [PMID:18515319 "DO"] synonym: "Ectrodactyly, Autosomal Recessive" EXACT [] synonym: "SHFM6" EXACT [] synonym: "WNT10B-RELATED CONDITION" BROAD [] xref: MESH:C567616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090027 name: split hand-foot malformation 2 alt_id: MIM:313350 def: "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. (DO)" [PMID:15617554 "DO"] synonym: "SHFD2" EXACT [] synonym: "SHFM2" EXACT [] synonym: "SHSF2" EXACT [] synonym: "split hand foot anomaly, X-linked" EXACT [] synonym: "split-hand-foot deformity 2" EXACT [] synonym: "split hand-foot malformation X-linked" EXACT [] synonym: "split-hand-split-foot anomaly, X-linked" EXACT [] xref: MESH:C564056 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090028 name: familial isolated deficiency of vitamin E def: "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. (DO)" [PMID:2298915 "DO", PMID:7719340 "DO"] synonym: "ataxia and retinitis pigmentosa with isolated vitamin E deficiency" EXACT [] synonym: "ataxia with isolated vitamin E deficiency" EXACT [] synonym: "ataxia with vitamin E deficiency" EXACT [] synonym: "AVED" EXACT [] synonym: "familial isolated vitamin E deficiency" EXACT [] synonym: "Friedreich ataxia phenotype with selective vitamin E deficiency" EXACT [] synonym: "Friedreich-like ataxia" EXACT [] synonym: "Friedreich-like ataxia with isolated vitamin E deficiency" EXACT [] synonym: "Friedreich-like ataxia with selective vitamin E deficiency" EXACT [] synonym: "TTPA-related condition" BROAD [] synonym: "VED" EXACT [] xref: MESH:C535393 xref: MIM:277460 xref: MONDO:0010188 xref: NCI:C155996 xref: ORDO:96 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:9004866 ! Ataxia is_a: DOID:9006575 ! Vitamin E Deficiency [Term] id: DOID:0090029 name: CINCA syndrome def: "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. (DO)" [https://www.nomidalliance.org/nomid.php "DO", PMID:12032915 "DO", PMID:7252669 "DO"] synonym: "CAPS3" EXACT [] synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [] synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [] synonym: "chronic infantile neurologic cutaneous and articular syndrome" EXACT [] synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [] synonym: "CINCA" EXACT [] synonym: "cryopyrin-associated periodic syndrome 3" EXACT [] synonym: "infantile-onset multisystem inflammatory disease" EXACT [] synonym: "IOMID" EXACT [] synonym: "IOMID syndrome" EXACT [] synonym: "neonatal-onset multisystem inflammatory disease" EXACT [] synonym: "NOMID" EXACT [] synonym: "NOMID syndrome" EXACT [] synonym: "Prieur-Griscelli syndrome" EXACT [] xref: MIM:607115 xref: NCI:C116380 xref: ORDO:1451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:417 ! autoimmune disease is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0090030 name: corticosteroid-binding globulin deficiency def: "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. (DO)" [PMID:10634411 "DO", PMID:7061486 "DO"] synonym: "CBG deficiency" EXACT [] synonym: "elevated corticosteroid-binding globulin" RELATED [] synonym: "SERPINA6-related condition" BROAD [] synonym: "Transcortin Deficiency" EXACT [] xref: GARD:13101 xref: ICD10CM:E27.8 xref: MESH:C565152 xref: MIM:611489 xref: MONDO:0012675 xref: ORDO:199247 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9006617 ! Fatigue is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0090031 name: D-bifunctional protein deficiency def: "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (DO)" [https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency "DO", MIM:261515 "DO"] synonym: "17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY" EXACT [] synonym: "DBP deficiency" EXACT [] synonym: "HSD17B4-RELATED CONDITION" BROAD [] synonym: "PBFE DEFICIENCY" EXACT [] synonym: "peroxisomal bifunctional enzyme deficiency" EXACT [] xref: GARD:4539 xref: MIM:261515 xref: NCI:C119676 xref: ORDO:300 is_a: DOID:0112248 ! 17-beta hydroxysteroid dehydrogenase 3 deficiency is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0090032 name: Silverman-Handmaker type dyssegmental dysplasia def: "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/gene/HSPG2#conditions "DO", MIM:224410 "DO"] synonym: "anisospondylic camptomicromelic dwarfism" EXACT [] synonym: "Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type" EXACT [] synonym: "DDSH" EXACT [] synonym: "Dyssegmental dwarfism" EXACT [] synonym: "Dyssegmental Dwarfism, Silverman-Handmaker Type" EXACT [] synonym: "dyssegmental dysplasia" EXACT [] synonym: "HSPG2-related condition" BROAD [] synonym: "HSPG2-related disorder" BROAD [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN" RELATED [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN" RELATED [] xref: ICD10CM:Q77.7 xref: MESH:C537998 xref: MIM:224410 xref: MONDO:0009140 xref: ORDO:1865 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0090033 name: myoclonic dystonia def: "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. (DO)" [https://en.wikipedia.org/wiki/Myoclonic_dystonia "DO", https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO"] synonym: "alcohol-responsive dystonia" EXACT [] synonym: "Hereditary essential myoclonus" EXACT [] synonym: "Myoclonus-Dystonia" EXACT [] synonym: "myoclonus-dystonia syndrome" EXACT [] xref: MESH:C536096 is_a: DOID:543 ! dystonia [Term] id: DOID:0090034 name: myoclonic dystonia 11 def: "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", MIM:159900 "DO"] synonym: "dystonia 11" EXACT [] synonym: "DYT11" EXACT [] synonym: "SGCE-RELATED CONDITION" EXACT [] xref: MIM:159900 xref: NCI:C201596 xref: ORDO:36899 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0090035 name: myoclonic dystonia 15 alt_id: MIM:607488 def: "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", MIM:607488 "DO"] synonym: "DYT15" EXACT [] xref: MESH:C538002 xref: ORDO:210566 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090036 name: myoclonic dystonia 26 def: "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", MIM:616398 "DO"] synonym: "DYT26" EXACT [] synonym: "KCTD17-related condition" BROAD [] xref: MIM:616398 xref: MONDO:0014620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia created_by: rgd creation_date: 2017-03-03T00:00:00Z [Term] id: DOID:0090037 name: torsion dystonia 13 alt_id: MIM:607671 def: "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. (DO)" [MIM:607671 "DO", PMID:11261511 "DO"] synonym: "DYT13" EXACT [] synonym: "torsion dystonia 13, autosomal dominant" EXACT [] xref: MESH:C564354 xref: ORDO:98807 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000314 ! Torsion Abnormality is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090038 name: torsion dystonia 2 alt_id: MIM:224500 def: "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)" [MIM:224500 "DO", PMID:25799108 "DO"] synonym: "dystonia musculorum deformans 2" EXACT [] synonym: "dystonia musculorum deformans type 2" EXACT [] synonym: "DYT2" EXACT [] synonym: "HPCA-RELATED CONDITION" EXACT [] synonym: "torsion dystonia 2, autosomal recessive" EXACT [] synonym: "torsion dystonia 2, autosomal recessive type" EXACT [] xref: MESH:C538006 xref: NCI:C123415 xref: ORDO:99657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090039 name: torsion dystonia 6 alt_id: MIM:602629 def: "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)" [https://ghr.nlm.nih.gov/condition/dystonia-6 "DO"] synonym: "DYT6" EXACT [] synonym: "THAP1-RELATED DISORDER" EXACT [] synonym: "Torsion dystonia adult onset mixed type" EXACT [] xref: MESH:C538003 xref: NCI:C156361 xref: ORDO:98806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090040 name: torsion dystonia 7 alt_id: MIM:602124 alt_id: RDO:0002703 alt_id: RDO:0014889 def: "A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. (DO)" [MIM:602124 "DO", PMID:23596437 "DO"] synonym: "DYT7" EXACT [] synonym: "Primary adult-onset torsion dystonia" EXACT [] synonym: "primary cervical dystonia" EXACT [] synonym: "Torsion dystonia, focal adult-onset" EXACT [] synonym: "TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY" NARROW [] xref: MESH:C566572 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090041 name: torsion dystonia 4 def: "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (DO)" [MIM:128101 "DO", PMID:29127012 "DO"] synonym: "dystonia musculorum deformans 4" EXACT [] synonym: "DYT4" EXACT [] synonym: "hereditary whispering dysphonia" EXACT [] synonym: "torsion dystonia 4, autosomal dominant" EXACT [] synonym: "torsion dystonia 4, autosomal dominant type" EXACT [] synonym: "TUBB4A-RELATED CONDITION" BROAD [] xref: MESH:C536698 xref: MESH:C538004 xref: MIM:128101 xref: MONDO:0007493 xref: ORDO:98805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006046 ! Voice Disorders is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090042 name: torsion dystonia 17 alt_id: MIM:612406 def: "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. (DO)" [MIM:612406 "DO", PMID:23596437 "DO"] synonym: "DYT17" EXACT [] synonym: "torsion dystonia 17, autosomal recessive" EXACT [] xref: MESH:C567319 xref: ORDO:370103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090043 name: DOPA-responsive dystonia alt_id: DOID:0060963 def: "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. (DO)" [https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1508/ "DO", PMID:17111153 "DO"] synonym: "autosomal dominant Segawa syndrome" EXACT [] synonym: "DOPA-responsive dystonia, autosomal dominant" EXACT [] synonym: "DOPA-responsive dystonia with or without hyperphenylalaninemia" EXACT [] synonym: "DRD" EXACT [] synonym: "dystonia 5" EXACT [] synonym: "dystonia 5, Dopa-responsive type" EXACT [] synonym: "dystonia, DOPA-responsive" EXACT [] synonym: "dystonia-parkinsonism with diurnal fluctuation" EXACT [] synonym: "DYT5" EXACT [] synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [] synonym: "GTPCH1-deficient DRD" EXACT [] synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT [] synonym: "HPD with marked diurnal fluctuation" EXACT [] synonym: "progressive dystonia with diurnal variation" EXACT [] synonym: "Segawa syndrome, autosomal dominant" EXACT [] xref: ICD10:G24.1 xref: MESH:C538007 xref: MIM:128230 xref: MONDO:0007495 xref: MONDO:0016812 xref: NCI:C116719 xref: ORDO:98808 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090044 name: dystonia 9 def: "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO", MIM:601042 "DO", PMID:30616884 "DO"] synonym: "CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA" EXACT [] synonym: "DYT9" EXACT [] synonym: "episodic choreoathetosis/spasticity" EXACT [] synonym: "kinesigenic choreoathetosis with episodic ataxia and spasticity" EXACT [] synonym: "paroxysmal choreoathetosis with episodic ataxia" EXACT [] synonym: "paroxysmal choreoathetosis with spasticity" EXACT [] xref: MESH:C563401 xref: MIM:601042 xref: MONDO:0010983 xref: ORDO:53583 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome is_a: DOID:543 ! dystonia is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0090045 name: glucose transporter type 1 deficiency syndrome 2 def: "A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. (DO)" [MIM:612126 "DO", PMID:26336901 "DO"] synonym: "childhood-onset GLUT1 deficiency syndrome 2" EXACT [] synonym: "dystonia 18" EXACT [] synonym: "DYT18" EXACT [] synonym: "GLUT1 deficiency syndrome 2" EXACT [] synonym: "GLUT1DS2" EXACT [] synonym: "paroxysmal exercise-induced dyskinesia" BROAD [] synonym: "PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA" EXACT [] synonym: "paroxysmal exercise-induced dystonia" EXACT [] synonym: "paroxysmal exertion-induced dyskinesia" EXACT [] synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia" EXACT [] synonym: "PED" BROAD [] synonym: "PED with or without epilepsy and/or hemolytic anemia" EXACT [] xref: GARD:10541 xref: MESH:C564288 xref: MIM:612126 xref: MONDO:0012805 xref: ORDO:98811 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome is_a: DOID:543 ! dystonia [Term] id: DOID:0090046 name: dystonia 21 def: "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. (DO)" [MIM:614588 "DO", PMID:21301909 "DO", PMID:29770609 "DO"] synonym: "DYT21" EXACT [] xref: MIM:614588 xref: MONDO:0013813 xref: ORDO:306734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0090047 name: paroxysmal nonkinesigenic dyskinesia 2 def: "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO", PMID:20425035 "DO", PMID:22454269 "DO"] synonym: "dystonia 20" EXACT [] synonym: "DYT20" EXACT [] synonym: "PNKD2" EXACT [] xref: MESH:C567001 xref: MIM:611147 xref: MONDO:0012629 xref: ORDO:98810 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12859 ! choreatic disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090048 name: dystonia 16 def: "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (DO)" [MIM:612067 "DO", PMID:28283962 "DO", PMID:29279192 "DO"] synonym: "DYT16" EXACT [] synonym: "MIM:612067" EXACT [] synonym: "PRKRA-RELATED CONDITION" EXACT [] xref: GARD:10539 xref: ICD10CM:G24.1 xref: MESH:C567430 xref: NCI:C168729 xref: ORDO:210571 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050837 ! multifocal dystonia [Term] id: DOID:0090049 name: paroxysmal nonkinesigenic dyskinesia 1 alt_id: MIM:118800 def: "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO", PMID:28090678 "DO"] synonym: "Dystonia 8" EXACT [] synonym: "DYT8" EXACT [] synonym: "familial paroxysmal choreoathetosis" EXACT [] synonym: "Familial Paroxysmal Nonkinesigenic Dyskinesia" EXACT [] synonym: "FPD1" EXACT [] synonym: "Mount-Reback syndrome" EXACT [] synonym: "nonkinesigenic choreoathetosis" EXACT [] synonym: "paroxysmal dystonic choreoathetosis" EXACT [] synonym: "paroxysmal non-kinesigenic dyskinesia" EXACT [] synonym: "paroxysmal nonkinesigenic dyskinesia" EXACT [] synonym: "PDC" EXACT [] synonym: "PNKD1" EXACT [] synonym: "PNKD-RELATED DISORDER" EXACT [] xref: MESH:C537181 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12859 ! choreatic disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090050 name: dystonia 27 def: "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (DO)" [MIM:616411 "DO", PMID:26004199 "DO"] synonym: "AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY" EXACT [] synonym: "DYT27" EXACT [] xref: MIM:616411 xref: ORDO:464440 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050838 ! segmental dystonia is_a: DOID:9007913 ! Collagen VI-related Myopathy created_by: rgd creation_date: 2017-01-16T00:00:00Z [Term] id: DOID:0090051 name: dystonia 23 def: "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. (DO)" [MIM:614860 "DO", PMID:25296916 "DO"] synonym: "DYT23" EXACT [] xref: ICD10CM:G24.8 xref: MIM:614860 xref: MONDO:0013928 xref: ORDO:420492 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2015-06-17T00:00:00Z [Term] id: DOID:0090052 name: dystonia 24 def: "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. (DO)" [MIM:615034 "DO", PMID:30455893 "DO"] synonym: "ANO3-RELATED DISORDER" EXACT [] synonym: "DYT24" EXACT [] xref: EFO:0009040 xref: MIM:615034 xref: ORDO:420485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090053 name: episodic kinesigenic dyskinesia 1 alt_id: MIM:128200 def: "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO", MIM:128200 "DO"] synonym: "dystonia 10" EXACT [] synonym: "DYT10" EXACT [] synonym: "EKD1" EXACT [] synonym: "Familial Paroxysmal Dystonia" EXACT [] synonym: "Familial Paroxysmal Kinesigenic Dyskinesia" EXACT [] synonym: "Paroxysmal kinesigenic choreoathetosis" EXACT [] synonym: "paroxysmal kinesigenic dyskinesia" EXACT [] synonym: "PKC" EXACT [] synonym: "PKD" EXACT [] xref: GARD:8721 xref: MESH:C537180 xref: NCI:C178413 xref: ORDO:98809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009225 ! Episodic Kinesigenic Dyskinesia [Term] id: DOID:0090054 name: episodic kinesigenic dyskinesia 2 alt_id: MIM:611031 def: "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO"] synonym: "dystonia 19" EXACT [] synonym: "DYT19" EXACT [] synonym: "EKD2" EXACT [] xref: MESH:C567026 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009225 ! Episodic Kinesigenic Dyskinesia [Term] id: DOID:0090055 name: dystonia 25 def: "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. (DO)" [MIM:615073 "DO", PMID:28283962 "DO", PMID:30660597 "DO"] synonym: "DYT25" EXACT [] synonym: "GNAL-related condition" BROAD [] xref: MIM:615073 xref: MONDO:0014033 xref: ORDO:329466 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050837 ! multifocal dystonia [Term] id: DOID:0090056 name: dystonia 12 def: "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (DO)" [https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism "DO", MIM:128235 "DO"] synonym: "DYT12" EXACT [] synonym: "rapid-onset dystonia-parkinsonism" EXACT [] synonym: "RDP" EXACT [] synonym: "TASK-SPECIFIC MOVEMENT DISORDER" EXACT [] xref: MESH:C538001 xref: MIM:128235 xref: MONDO:0007496 xref: NCI:C157577 xref: ORDO:71517 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090057 name: X-linked dystonia-parkinsonism alt_id: MIM:314250 def: "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism "DO", MIM:314250 "DO"] synonym: "DYT3" EXACT [] synonym: "Lubag" EXACT [] synonym: "Lubag Syndrome" EXACT [] synonym: "TAF1-RELATED CONDITION" BROAD [] synonym: "Torsion Dystonia-Parkinsonism, Filipino Type" EXACT [] synonym: "XDP" EXACT [] synonym: "X-Linked Dystonia-Parkinsonism Syndrome" EXACT [] synonym: "X-linked torsion dystonia 3" EXACT [] synonym: "X-linked torsion dystonia-parkinsonism syndrome" EXACT [] xref: GARD:10533 xref: MESH:C564048 xref: NCI:C126330 xref: ORDO:53351 is_a: DOID:0050836 ! focal dystonia is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0090058 name: torsion dystonia with onset in infancy def: "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. (DO)" [PMID:8916165 "DO"] synonym: "autosomal dominant torsion dystonia with onset in infancy" EXACT [] xref: MESH:C536969 xref: MIM:602554 xref: MONDO:0011249 xref: ORDO:256 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050835 ! generalized dystonia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0090059 name: enhanced S-cone syndrome def: "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration. (DO)" [MIM:268100 "DO", PMID:30900587 "DO"] synonym: "clumped pigmentary retinal degeneration" EXACT [] synonym: "ESCS" EXACT [] synonym: "Favre hyaloideoretinal degeneration" EXACT [] synonym: "Goldmann-Favre syndrome" EXACT [] synonym: "retinoschisis with early hemeralopia" EXACT [] xref: MESH:C564835 xref: MIM:PS268100 xref: MONDO:0100288 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:8466 ! retinal degeneration is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0090060 name: Wolcott-Rallison syndrome alt_id: MIM:226980 def: "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. (DO)" [MIM:226980 "DO", PMID:30906465 "DO"] synonym: "EIF2AK3-RELATED CONDITION" EXACT [] synonym: "IDDM-MED syndrome" EXACT [] synonym: "multiple epiphyseal dysplasia with early-onset diabetes mellitus" EXACT [] synonym: "Wolcott-Rallison dysplasia" EXACT [] xref: ICD10CM:E13 xref: MESH:C536739 xref: ORDO:1667 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0090061 name: familial cold autoinflammatory syndrome def: "An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)" [https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome "DO", https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/ "DO", https://www.nomidalliance.org/fcas.php "DO"] synonym: "familial cold induced autoinflammatory syndrome" EXACT [] synonym: "FCAS" EXACT [] xref: MIM:PS120100 xref: MONDO:0018768 xref: ORDO:47045 is_a: DOID:0051000 ! autoinflammatory disease is_a: DOID:1555 ! urticaria is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes [Term] id: DOID:0090062 name: familial cold autoinflammatory syndrome 1 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)" [PMID:11687797 "DO"] synonym: "CAPS1" EXACT [] synonym: "CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1" EXACT [] synonym: "FCAS1" EXACT [] xref: MIM:120100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090063 name: familial cold autoinflammatory syndrome 2 alt_id: MIM:611762 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. (DO)" [PMID:18230725 "DO"] synonym: "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO" RELATED [] synonym: "FCAS2" EXACT [] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [] synonym: "NLRP12-related condition" EXACT [] xref: MESH:C567090 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090064 name: familial cold autoinflammatory syndrome 3 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. (DO)" [PMID:22236196 "DO"] synonym: "FACU" EXACT [] synonym: "familial atypical cold urticaria" EXACT [] synonym: "FCAS3" EXACT [] synonym: "phospholipase C gamma 2-associated antibody deficiency and immune dysregulation" EXACT [] synonym: "PLAID" EXACT [] synonym: "PLCG2-associated antibody deficiency and immune dysregulation" EXACT [] synonym: "PLCG2-RELATED DISORDER" BROAD [] xref: MIM:614468 xref: ORDO:300359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome is_a: DOID:1555 ! urticaria [Term] id: DOID:0090065 name: familial cold autoinflammatory syndrome 4 def: "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. (DO)" [PMID:25385754 "DO"] synonym: "FCAS4" EXACT [] synonym: "NLRC4-RELATED DISORDER" BROAD [] xref: ICD10CM:L50.2 xref: MIM:616115 xref: MONDO:0014498 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0090066 name: Fanconi-like syndrome def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. (DO)" [PMID:4692131 "DO"] xref: MESH:C536855 xref: MIM:227850 xref: MONDO:0009217 is_a: DOID:12450 ! pancytopenia is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9002605 ! Delayed Hypersensitivity is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:0090067 name: Fuhrmann syndrome def: "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. (DO)" [MIM:228930 "DO", PMID:28917830 "DO"] synonym: "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY" EXACT [] synonym: "WNT7A-related condition" BROAD [] xref: GARD:2410 xref: ICD10CM:Q74.8 xref: MESH:C538189 xref: MIM:228930 xref: MONDO:0009232 xref: ORDO:2854 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0090068 name: giant axonal neuropathy 1 alt_id: RDO:9002729 def: "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (DO)" [https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO", MIM:256850 "DO", PMID:30709364 "DO"] synonym: "GAN1" EXACT [] synonym: "giant axonal neuropathy 1 (GAN1)" EXACT [] synonym: "giant axonal neuropathy 1, autosomal recessive" EXACT [] synonym: "giant axonal neuropathy, autosomal recessive" EXACT [] xref: MIM:256850 xref: ORDO:643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000462 ! Giant Axonal Neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0090069 name: giant axonal neuropathy 2 alt_id: MIM:610100 alt_id: RDO:0014795 def: "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (DO)" [https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO", MIM:610100 "DO", PMID:24500646 "DO"] synonym: "DCAF8-RELATED CONDITION" EXACT [] synonym: "GAN2" EXACT [] synonym: "giant axonal neuropathy 2, autosomal dominant" EXACT [] synonym: "giant axonal neuropathy, autosomal dominant" EXACT [] xref: MESH:C566444 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000462 ! Giant Axonal Neuropathy [Term] id: DOID:0090070 name: hypogonadotropic hypogonadism alt_id: DOID:7455 def: "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. (DO)" [PMID:17761590 "DO"] synonym: "CONGENITAL HYPOGONADOTROPIC HYPOGONADISM" EXACT [] synonym: "congenital idiopathic hypogonadotropic hypogonadism" EXACT [] synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT [] synonym: "hypogonadotropism" EXACT [] synonym: "isolated congenital gonadotropin deficiency" EXACT [] xref: MIM:PS147950 xref: ORDO:432 is_a: DOID:1924 ! hypogonadism [Term] id: DOID:0090071 name: hypogonadotropic hypogonadism 11 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. (DO)" [PMID:19079066 "DO"] synonym: "HH11" EXACT [] synonym: "TACR3-related condition" EXACT [] xref: MIM:614840 xref: MONDO:0013913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090072 name: hypogonadotropic hypogonadism 12 with or without anosmia alt_id: MIM:614841 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)" [PMID:19535795 "DO"] synonym: "familial hypogonadotrophic eunuchoidism" EXACT [] synonym: "familial idiopathic gonadotropin deficiency" EXACT [] synonym: "familial idiopathic gonadotrpin deficiency" EXACT [] synonym: "FIGD" EXACT [] synonym: "HH12" EXACT [] synonym: "ISOLATED GNRH DEFICIENCY" EXACT [] xref: MESH:C535764 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:5003 ! eunuchism [Term] id: DOID:0090073 name: hypogonadotropic hypogonadism 13 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. (DO)" [PMID:22335740 "DO"] synonym: "HH13" EXACT [] synonym: "hypogonadotropic hypogonadism 13 without anosmia" NARROW [] synonym: "KISS1-RELATED CONDITION" EXACT [] xref: MIM:614842 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090074 name: hypogonadotropic hypogonadism 8 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)" [PMID:14573733 "DO", PMID:23643382 "DO"] synonym: "HH8" EXACT [] synonym: "hypogonadotropic hypogonadism 8 without anosmia" NARROW [] synonym: "KISS1R-RELATED CONDITION" BROAD [] xref: MIM:614837 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090075 name: hypogonadotropic hypogonadism 15 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. (DO)" [PMID:21700882 "DO", PMID:23643382 "DO"] synonym: "HH15" EXACT [] synonym: "HS6ST1-related condition" BROAD [] synonym: "hypogonadotropic hypogonadism 15 with anosmia" NARROW [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO" RELATED [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO" RELATED [] xref: MIM:614880 xref: MONDO:0013946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090076 name: hypogonadotropic hypogonadism 18 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. (DO)" [PMID:23643382 "DO"] synonym: "HH18" EXACT [] synonym: "hypogonadotropic hypogonadism 18 with anosmia" NARROW [] synonym: "IL17RD-RELATED CONDITION" EXACT [] xref: MIM:615267 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090077 name: hypogonadotropic hypogonadism 4 with or without anosmia alt_id: MIM:610628 def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. (DO)" [PMID:17054399 "DO", PMID:18559922 "DO"] synonym: "HH4" EXACT [] synonym: "Kallmann syndrome 4" EXACT [] synonym: "PROK2-RELATED CONDITION" EXACT [] xref: MESH:C565696 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090078 name: hypogonadotropic hypogonadism 7 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)" [PMID:17235395 "DO", PMID:9371856 "DO"] synonym: "GNRHR-related condition" EXACT [] synonym: "HH7" EXACT [] synonym: "idiopathic hypogonadotropic hypogonadism" EXACT [] synonym: "IHH" EXACT [] synonym: "ISOLATED CONGENITAL HYPOGONADOTROPIC HYPOGONADISM" EXACT [] synonym: "isolated hypogonadotropic hypogonadism" EXACT [] xref: MESH:C562785 xref: MIM:146110 xref: MONDO:0007794 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090079 name: hypogonadotropic hypogonadism 17 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. (DO)" [PMID:23643382 "DO"] synonym: "HH17" EXACT [] synonym: "SPRY4-related condition" EXACT [] xref: ICD10CM:E23.0 xref: MIM:615266 xref: MONDO:0014102 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090080 name: hypogonadotropic hypogonadism 16 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. (DO)" [PMID:22416012 "DO", PMID:22927827 "DO"] synonym: "HH16" EXACT [] synonym: "SEMA3A-RELATED CONDITION" EXACT [] xref: MIM:614897 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090081 name: hypogonadotropic hypogonadism 22 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. (DO)" [PMID:25192046 "DO"] synonym: "FEZF1-RELATED CONDITION" EXACT [] synonym: "HH22" EXACT [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA" NARROW [] xref: MIM:616030 xref: MONDO:0014461 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090082 name: hypogonadotropic hypogonadism 20 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. (DO)" [PMID:23643382 "DO"] synonym: "FGF17-related disorder" EXACT [] synonym: "HH20" EXACT [] synonym: "hypogonadotropic hypogonadism 20 without anosmia" NARROW [] xref: MIM:615270 xref: MONDO:0014106 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090083 name: hypogonadotropic hypogonadism 2 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)" [PMID:12627230 "DO", PMID:20696889 "DO"] synonym: "HH2" EXACT [] synonym: "hypogonadotropic hypogonadism 2 with anosmia" NARROW [] synonym: "hypogonadotropic hypogonadism 2 with anosmia, susceptibility to" RELATED [] synonym: "KAL2" EXACT [] synonym: "Kallmann syndrome 2" EXACT [] xref: MIM:147950 xref: MONDO:0007844 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090084 name: hypogonadotropic hypogonadism 5 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. (DO)" [PMID:18834967 "DO"] synonym: "CHD7-related condition" BROAD [] synonym: "HH5" EXACT [] xref: MIM:612370 xref: MONDO:0012880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090085 name: hypogonadotropic hypogonadism 9 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. (DO)" [PMID:15362570 "DO", PMID:17235395 "DO"] synonym: "HH9" EXACT [] synonym: "NSMF-RELATED CONDITION" EXACT [] xref: MIM:614838 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090086 name: hypogonadotropic hypogonadism 6 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. (DO)" [PMID:18596921 "DO"] synonym: "FGF8-RELATED CONDITION" EXACT [] synonym: "HH6" EXACT [] xref: MIM:612702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090087 name: hypogonadotropic hypogonadism 14 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. (DO)" [PMID:20887964 "DO"] synonym: "HH14" EXACT [] synonym: "hypogonadotropic hypogonadism 14 with anosmia" NARROW [] synonym: "WDR11-RELATED CONDITION" BROAD [] xref: MIM:614858 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090088 name: hypogonadotropic hypogonadism 24 without anosmia alt_id: MIM:229070 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. (DO)" [PMID:8220432 "DO", PMID:9271483 "DO"] synonym: "HH24" EXACT [] synonym: "hypogonadotropic hypogonadism 24 with or without anosmia" EXACT [] synonym: "isolated follicle-stimulating hormone deficiency" EXACT [] synonym: "isolated FSH deficiency" EXACT [] xref: ICD10CM:E23.6 xref: MESH:C537070 xref: ORDO:52901 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:14228 ! oligospermia [Term] id: DOID:0090089 name: hypogonadotropic hypogonadism 10 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. (DO)" [PMID:19079066 "DO"] synonym: "HH10" EXACT [] synonym: "hypogonadotropic hypogonadism 10 without anosmia" NARROW [] xref: MIM:614839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090090 name: hypogonadotropic hypogonadism 19 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. (DO)" [PMID:23643382 "DO"] synonym: "DUSP6-related condition" EXACT [] synonym: "HH19" EXACT [] xref: MIM:615269 xref: MONDO:0014105 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090091 name: hypogonadotropic hypogonadism 23 with or without anosmia alt_id: MIM:228300 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (DO)" [PMID:1727547 "DO", PMID:22723313 "DO"] synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [] synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "46,XY DSD due to LHB deficiency" EXACT [] synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "fertile eunuch syndrome" EXACT [] synonym: "HH23" EXACT [] synonym: "hypogonadotropic hypogonadism 23 without anosmia" EXACT [] synonym: "leydig cell hypoplasia due to LHB deficiency" EXACT [] synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "LHB-RELATED CONDITION" EXACT [] synonym: "Pasqualini syndrome" EXACT [] xref: ICD10CM:Q56.1 xref: MESH:C537919 xref: ORDO:325448 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:5003 ! eunuchism [Term] id: DOID:0090092 name: hypogonadotropic hypogonadism 3 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)" [PMID:17054399 "DO", PMID:18559922 "DO"] synonym: "HH3" EXACT [] synonym: "hypogonadotropic hypogonadism 3 without anosmia" NARROW [] synonym: "Kallmann syndrome 3" NARROW [] synonym: "Kallmann syndrome type 3, recessive" NARROW [] synonym: "PROKR2-RELATED CONDITION" EXACT [] xref: MIM:244200 xref: MONDO:0009482 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090093 name: hypogonadotropic hypogonadism 21 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. (DO)" [PMID:23643382 "DO"] synonym: "FLRT3-related condition" BROAD [] synonym: "HH21" EXACT [] xref: MIM:615271 xref: MONDO:0014107 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090094 name: hypogonadotropic hypogonadism 1 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. (DO)" [PMID:1594017 "DO", PMID:16882753 "DO", PMID:17054399 "DO"] synonym: "ANOS1-RELATED CONDITION" EXACT [] synonym: "HH1" EXACT [] synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)" EXACT [] synonym: "KAL1" EXACT [] synonym: "Kallmann syndrome 1" EXACT [] synonym: "Kallmann syndrome type 1, X-linked" EXACT [] xref: MIM:308700 xref: MONDO:0010635 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090100 name: ocular albinism with sensorineural deafness alt_id: MIM:300650 def: "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. (DO)" [https://ghr.nlm.nih.gov/condition/ocular-albinism "DO", MIM:103470 "DO", PMID:28356565 "DO", PMID:29531335 "DO"] synonym: "autosomal recessive Waardenburg syndrome type 2, with ocular albinism" EXACT [] synonym: "autosomal recessive Waardenburg syndrome type II, with ocular albinism" EXACT [] synonym: "deafness and ocular albinism" EXACT [] synonym: "digenic Waardenburg syndrome/albinism" EXACT [] synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [] synonym: "digenic Waardenburg syndrome type 2A with ocular albinism" EXACT [] synonym: "OASD" EXACT [] synonym: "ocular albinism, late-onset sensorineural deafness" EXACT [] synonym: "ocular albinism with late-onset sensorineural deafness" EXACT [] synonym: "WS2-OA" EXACT [] xref: ICD10CM:E70.3 xref: MESH:C537043 xref: ORDO:352740 is_a: DOID:0050633 ! ocular albinism 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0090101 name: lethal congenital glycogen storage disease of heart def: "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)" [https://ghr.nlm.nih.gov/gene/PRKAG2#conditions "DO", MIM:261740 "DO"] synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [] synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [] synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [] synonym: "glycogen storage disease of heart" EXACT [] synonym: "phosphorylase kinase deficiency of heart" EXACT [] xref: ICD10CM:E74.0 xref: ICD10CM:G73.6 xref: MESH:C564888 xref: MIM:261740 xref: MONDO:0009867 xref: ORDO:439854 is_a: DOID:0080015 ! physical disorder is_a: DOID:114 ! heart disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0090102 name: autosomal dominant isolated macrothrombocytopenia 1 alt_id: MIM:613112 alt_id: OMIA:001001 def: "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. (DO)" [MIM:613112 "DO", PMID:27291889 "DO", PMID:27905099 "DO"] synonym: "autosomal dominant macrothrombocytopenia TUBB1-related" EXACT [] synonym: "MACTHC1" EXACT [] synonym: "TUBB1-RELATED CONDITION" EXACT [] xref: MESH:C567747 xref: ORDO:140957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004194 ! Isolated Macrothrombocytopenia [Term] id: DOID:0090103 name: Huntington's disease-like 1 alt_id: MIM:603218 def: "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. (DO)" [https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", MIM:603218 "DO"] synonym: "early-onset prion disease with prominent psychiatric features" EXACT [] synonym: "HDL1" EXACT [] synonym: "HLN1" EXACT [] synonym: "Huntington disease-like 1" EXACT [] synonym: "Huntington-Like Neurodegenerative Disorder 1" EXACT [] synonym: "Huntington-Like Neurodegenerative Disorder, Autosomal Dominant" EXACT [] xref: ICD10CM:G10 xref: MESH:C566398 xref: NCI:C214872 xref: ORDO:157941 is_a: DOID:12858 ! Huntington's disease is_a: DOID:649 ! prion disease [Term] id: DOID:0090104 name: Huntington's disease-like 2 alt_id: MIM:606438 def: "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)" [https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", MIM:606438 "DO"] synonym: "HDL2" EXACT [] synonym: "Huntington Disease-Like 2" EXACT [] synonym: "JPH3-RELATED CONDITION" EXACT [] xref: MESH:C564708 xref: ORDO:98934 is_a: DOID:12859 ! choreatic disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1307 ! dementia is_a: DOID:1561 ! cognitive disorder is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0090105 name: autosomal recessive hypercholesterolemia def: "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/condition/hypercholesterolemia "DO", MIM:603813 "DO"] synonym: "ARH" EXACT [] synonym: "ARH1" EXACT [] synonym: "ARH2" EXACT [] synonym: "autosomal recessive hypercholesterolemia 1" EXACT [] synonym: "autosomal recessive hypercholesterolemia 2" EXACT [] synonym: "familial autosomal recessive hypercholesterolemia" EXACT [] synonym: "familial hypercholesterolemia 4" EXACT [] synonym: "FHCB1" EXACT [] synonym: "FHCB2" EXACT [] synonym: "FHCL4" EXACT [] synonym: "HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA" EXACT [] xref: ICD10CM:E78.0 xref: MIM:603813 xref: NCI:C128114 xref: ORDO:391665 is_a: DOID:13810 ! familial hypercholesterolemia [Term] id: DOID:0090106 name: BH4-deficient hyperphenylalaninemia A alt_id: MIM:261640 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)" [https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency "DO", MIM:261640 "DO"] synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [] synonym: "HPABH4A" EXACT [] synonym: "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY" NARROW [] synonym: "Hyperphenylalaninemia, BH4-Deficient, Type A" EXACT [] synonym: "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [] synonym: "PTS Deficiency" EXACT [] synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency" EXACT [] xref: GARD:5682 xref: MESH:C535325 xref: NCI:C138171 xref: ORDO:13 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria [Term] id: DOID:0090107 name: autosomal dominant hypocalcemia 1 def: "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO"] synonym: "familial hypocalcemia" EXACT [] synonym: "hypercalciuric hypocalcemia" EXACT [] synonym: "Hypercalciuric Hypocalcemia, Familial" EXACT [] synonym: "HYPOC1" EXACT [] synonym: "hypoparathyroidism, autosomal dominant" EXACT [] xref: MESH:C562783 xref: MIM:601198 xref: MONDO:0011013 is_a: DOID:0090109 ! autosomal dominant hypocalcemia is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:0090108 name: autosomal dominant hypocalcemia 2 def: "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO"] synonym: "GNA11-RELATED CONDITION" BROAD [] synonym: "HYPOC2" EXACT [] xref: MIM:615361 is_a: DOID:0090109 ! autosomal dominant hypocalcemia [Term] id: DOID:0090109 name: autosomal dominant hypocalcemia alt_id: GARD:2877 alt_id: ICD10CM:E20.8 alt_id: ORDO:428 def: "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO", PMID:27803672 "DO"] synonym: "HYPOC" EXACT [] xref: MIM:PS601198 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9009050 ! Hypocalcemia [Term] id: DOID:0090110 name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome alt_id: MIM:304790 def: "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome "DO", MIM:304790 "DO"] synonym: "absence of islets of Langerhans" NARROW [] synonym: "autoimmune enteropathy type 1" EXACT [] synonym: "Autoimmunity-Immunodeficiency Syndrome, X-Linked" EXACT [] synonym: "Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea" EXACT [] synonym: "Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked" EXACT [] synonym: "DMSD" EXACT [] synonym: "Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy" EXACT [] synonym: "IDDM-Secretory Diarrhea Syndrome" EXACT [] synonym: "IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED" NARROW [] synonym: "INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME" EXACT [] synonym: "IPEX" EXACT [] synonym: "Ipex Syndrome" EXACT [] synonym: "XLAAD" EXACT [] synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [] synonym: "X-linked immunodysregulation, polyendocrinopathy, and enteropathy" EXACT [] synonym: "X-linked polyendocrinopathy, immune dysfunction, and diarrhea" EXACT [] synonym: "XPID" EXACT [] xref: GARD:1850 xref: MESH:C580192 xref: ORDO:37042 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0090111 name: PCWH syndrome alt_id: MIM:609136 def: "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)" [https://ghr.nlm.nih.gov/gene/SOX10#conditions "DO", MIM:609136 "DO"] synonym: "neurologic Waardenburg-Shah syndrome" EXACT [] synonym: "PCWH" EXACT [] synonym: "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [] synonym: "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease" EXACT [] synonym: "Waardenburg-Shah syndrome, neurologic variant" EXACT [] xref: ICD10CM:E75.2 xref: MESH:C563789 xref: ORDO:163746 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1389 ! polyneuropathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0090112 name: Nasu-Hakola disease alt_id: MIM:221770 def: "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (DO)" [https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy "DO", MIM:221770 "DO", PMID:30042649 "DO"] synonym: "brain-bone-fat disease" EXACT [] synonym: "NHD" EXACT [] synonym: "PLO-SL" EXACT [] synonym: "PLOSL" EXACT [] synonym: "PLOSL1" EXACT [] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" EXACT [] synonym: "prefrontal dementia with bone cysts" EXACT [] synonym: "presenile dementia with bone cysts" EXACT [] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia" EXACT [] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [] synonym: "TYROBP-RELATED CONDITION" EXACT [] xref: GARD:9921 xref: MESH:C536329 xref: ORDO:2770 is_a: DOID:225 ! syndrome is_a: DOID:8970 ! subacute sclerosing panencephalitis is_a: DOID:9009089 ! Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly [Term] id: DOID:0090113 name: Riddle syndrome alt_id: MIM:611943 def: "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. (DO)" [MIM:611943 "DO", PMID:29255463 "DO", PMID:30122534 "DO"] synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [] synonym: "RIDL" EXACT [] synonym: "RNF168 deficiency" EXACT [] synonym: "RNF168-RELATED CONDITION" EXACT [] xref: EFO:0009055 xref: MESH:C567453 xref: ORDO:420741 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:8927 ! learning disability is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0090114 name: Sorsby's fundus dystrophy def: "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. (DO)" [MIM:136900 "DO", PMID:26077580 "DO", PMID:26239453 "DO"] synonym: "Fundus Dystrophy, Pseudoinflammatory, of Sorsby" EXACT [] synonym: "Macular Dystrophy, Hemorrhagic" EXACT [] synonym: "SFD" EXACT [] synonym: "Sorsby fundus dystrophy" EXACT [] synonym: "TIMP3-RELATED CONDITION" EXACT [] xref: MESH:C564992 xref: MIM:136900 xref: MONDO:0007640 xref: NCI:C206110 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4448 ! macular degeneration is_a: DOID:8500 ! hereditary retinal dystrophy [Term] id: DOID:0090115 name: spinocerebellar ataxia with axonal neuropathy 1 alt_id: MIM:607250 def: "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. (DO)" [ORDO:94124 "DO"] synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1" EXACT [] synonym: "SCAN1" EXACT [] synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT [] synonym: "TDP1-RELATED CONDITION" EXACT [] xref: GARD:10000 xref: ICD10CM:G60.2 xref: MESH:C537313 xref: ORDO:94124 is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy [Term] id: DOID:0090116 name: spondylocarpotarsal synostosis syndrome alt_id: MIM:272460 def: "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. (DO)" [https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome "DO", PMID:29566257 "DO"] synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [] synonym: "congenital synspondylism" EXACT [] synonym: "FLNB-related spectrum disorder" BROAD [] synonym: "SCT" EXACT [] synonym: "SCT syndrome" EXACT [] synonym: "spondylocarpotarsal syndrome" EXACT [] synonym: "spondylocarpotarsal synostosis" EXACT [] synonym: "vertebral fusion with carpal coalition" EXACT [] xref: GARD:4974 xref: ICD10CM:Q76.4 xref: MESH:C535780 xref: ORDO:3275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060249 ! scoliosis is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0090117 name: thiamine-responsive megaloblastic anemia syndrome def: "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. (DO)" [https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1282/ "DO", MIM:249270 "DO"] synonym: "Abboud syndrome" EXACT [] synonym: "Rogers syndrome" EXACT [] synonym: "SLC19A2-RELATED CONDITION" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)" EXACT [] synonym: "thiamine-responsive anaemia syndrome" EXACT [] synonym: "thiamine-responsive anemia syndrome" EXACT [] synonym: "thiamine-responsive megaloblastic anaemia syndrome" EXACT [] synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT [] synonym: "thiamine-responsive megaloblastic anemia" EXACT [] synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [] synonym: "thiamine responsive myelodysplasia" EXACT [] synonym: "THMD1" EXACT [] synonym: "TRMA" EXACT [] xref: GARD:9210 xref: MESH:C536510 xref: MIM:249270 xref: MONDO:0009575 xref: ORDO:498277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070313 ! thiamine deficiency disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:225 ! syndrome is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0090118 name: congenital amegakaryocytic thrombocytopenia def: "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers. (DO)" [MIM:604498 "DO", PMID:29191945 "DO", PMID:29384262 "DO"] synonym: "CAMT" EXACT [] synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [] xref: GARD:640 xref: MESH:C535982 xref: MONDO:0800451 xref: NCI:C115207 xref: ORDO:3319 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0090119 name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome alt_id: MIM:106260 def: "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome "DO", PMID:29339502 "DO", PMID:29956718 "DO"] synonym: "AEC SYNDROME" EXACT [] synonym: "ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE" EXACT [] synonym: "Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome" EXACT [] synonym: "Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate" EXACT [] synonym: "Hay-Wells Syndrome" EXACT [] synonym: "Hay Wells syndrome dominant form" EXACT [] synonym: "Hay-Wells syndrome of ectodermal dysplasia" EXACT [] xref: MESH:C535847 xref: NCI:C157576 xref: ORDO:1071 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:9008296 ! Eye Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0090120 name: hereditary neutrophilia def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. (DO)" [MIM:162830 "DO", PMID:25189721 "DO"] synonym: "CSF3R-RELATED DISORDER" BROAD [] xref: MESH:C563010 xref: MIM:162830 xref: MONDO:0008092 xref: ORDO:279943 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:0090122 name: aromatase excess syndrome alt_id: DOID:9000705 def: "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome "DO", MIM:139300 "DO"] synonym: "AEXS" EXACT [] synonym: "aromatase deficiency" EXACT [] synonym: "CYP19A1-related condition" BROAD [] synonym: "familial gynecomastia" EXACT [] synonym: "familial gynecomastia, due to increased aromatase activity" EXACT [] synonym: "familial hyperestrogenism" EXACT [] synonym: "female pseudohermaphroditism due to placental aromatase deficiency" EXACT [] synonym: "hereditary gynecomastia" NARROW [] synonym: "hereditary prepubertal gynecomastia" EXACT [] synonym: "increased aromatase activity" EXACT [] xref: GARD:12949 xref: ICD10CM:E30.1 xref: MESH:C000591739 xref: MESH:C537436 xref: MESH:C564416 xref: MIM:139300 xref: MIM:613546 xref: MONDO:0007690 xref: ORDO:178345 is_a: DOID:12698 ! gynecomastia is_a: DOID:15 ! reproductive system disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0090123 name: aromatic L-amino acid decarboxylase deficiency def: "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. (DO)" [https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency "DO", MIM:608643 "DO"] synonym: "AADCD" EXACT [] synonym: "AADC deficiency" EXACT [] synonym: "aromatic amino acid decarboxylase deficiency" EXACT [] synonym: "DDC deficiency" EXACT [] synonym: "deficiency of aromatic-L-amino-acid decarboxylase" EXACT [] synonym: "DOPA decarboxylase deficiency" EXACT [] xref: GARD:770 xref: ICD10CM:E70.81 xref: MESH:C537437 xref: MIM:608643 xref: MONDO:0012084 xref: NCI:C142085 xref: ORDO:35708 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0090124 name: neurogenic-type arthrogryposis multiplex congenita-2 alt_id: DOID:9006267 def: "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. (DO)" [MIM:208100 "DO", PMID:28317099 "DO"] synonym: "AMC2" EXACT [] synonym: "AMCN" EXACT [] synonym: "AMC, neurogenic type" EXACT [] synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [] synonym: "ERGIC1-related condition" BROAD [] synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita 2" EXACT [] synonym: "neurogenic type of AMC" EXACT [] xref: MESH:C536614 xref: MIM:208100 xref: MONDO:0008823 xref: ORDO:1143 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0090125 name: brain small vessel disease 1 def: "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (DO)" [https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease "DO", https://ghr.nlm.nih.gov/condition/familial-porencephaly "DO", MIM:175780 "DO"] synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [] synonym: "brain small vessel disease 1 with or without ocular anomalies" EXACT [] synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [] synonym: "brain small vessel disease with Axenfeld-Rieger anomaly" EXACT [] synonym: "brain small vessel disease with hemorrhage" EXACT [] synonym: "brain small vessel disease with or without ocular anomalies" EXACT [] synonym: "BSVD1" EXACT [] synonym: "COL4A1-related brain small-vessel disease" EXACT [] synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [] synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [] synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [] synonym: "Gould syndrome 1" EXACT [] synonym: "infantile hemiparesis" EXACT [] synonym: "infantile hemiplegia with porencephaly" EXACT [] synonym: "leukoencephalopathy with Axenfeld-Riegar anomaly" EXACT [] synonym: "leukoencephalopathy with Axenfeld-Rieger anomaly" EXACT [] synonym: "porencephaly 1" RELATED [] synonym: "porencephaly type 1" RELATED [] synonym: "porencephaly type 1, autosomal dominant" RELATED [] synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [] xref: MESH:C564372 xref: MIM:175780 xref: MONDO:0008289 xref: ORDO:36383 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:9000062 ! Retinal Hemorrhage is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0090126 name: branched-chain keto acid dehydrogenase kinase deficiency def: "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (DO)" [MIM:614901 "DO", PMID:24449431 "DO"] synonym: "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [] synonym: "BCKDKD" EXACT [] synonym: "BCKDK deficiency" EXACT [] synonym: "BCKDK-RELATED CONDITION" EXACT [] xref: MIM:614923 xref: ORDO:308410 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0090127 name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome alt_id: MIM:208250 def: "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (DO)" [MIM:208250 "DO", PMID:29397575 "DO"] synonym: "arthropathy camptodactyly syndrome" EXACT [] synonym: "CACP" EXACT [] synonym: "CACP syndrome" EXACT [] synonym: "camptodactyly arthropathy pericarditis syndrome" EXACT [] synonym: "CAP syndrome" EXACT [] synonym: "congenital familial hypertrophic synovitis" EXACT [] synonym: "familial fibrosing serositis" EXACT [] synonym: "Jacobs syndrome" EXACT [] synonym: "PAC syndrome" EXACT [] synonym: "PRG4-RELATED CONDITION" EXACT [] xref: EFO:0009028 xref: MESH:C537560 xref: ORDO:2848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14286 ! neurogenic arthropathy is_a: DOID:225 ! syndrome is_a: DOID:2703 ! synovitis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005226 ! Coxa Vara [Term] id: DOID:0090128 name: Carvajal syndrome alt_id: MIM:605676 def: "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. (DO)" [https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair "DO", MIM:605676 "DO"] synonym: "DCWHK" EXACT [] synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT [] synonym: "dilated cardiomyopathy, woolly hair, keratoderma" EXACT [] synonym: "Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy" EXACT [] synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT [] xref: GARD:5595 xref: MESH:C535581 xref: ORDO:65282 is_a: DOID:0070554 ! palmoplantar keratoderma and woolly hair is_a: DOID:0080551 ! Naxos disease is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:225 ! syndrome [Term] id: DOID:0090129 name: carnitine palmitoyltransferase I deficiency def: "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. (DO)" [https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency "DO", MIM:255120 "DO"] synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT [] synonym: "carnitine palmitoyl transferase 1 deficiency" EXACT [] synonym: "carnitine palmitoyltransferase 1 deficiency" EXACT [] synonym: "Carnitine Palmitoyltransferase IA Deficiency" EXACT [] synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [] synonym: "CARNITINE PALMITOYLTRANSFERASE TYPE I DEFICIENCY" EXACT [] synonym: "CPT 1A Deficiency" EXACT [] synonym: "CPT1A deficiency" EXACT [] synonym: "CPT1A-RELATED DISORDER" EXACT [] synonym: "CPT Deficiency, Hepatic, Type I" EXACT [] synonym: "CPT deficiency, hepatic, type IA" EXACT [] synonym: "CPT I deficiency" EXACT [] synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [] synonym: "hepatic carnitine palmitoyltransferase 1 deficiency" EXACT [] synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [] synonym: "L-CPT1 deficiency" EXACT [] synonym: "liver form of carnitine palmitoyltransferase deficiency" EXACT [] xref: GARD:1120 xref: ICD10CM:E71.3 xref: MESH:C535588 xref: MIM:255120 xref: MONDO:0009705 xref: ORDO:156 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0090130 name: cortical dysplasia-focal epilepsy syndrome alt_id: MIM:610042 def: "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (DO)" [MIM:610042 "DO", PMID:27439707 "DO"] synonym: "CDFES" EXACT [] synonym: "CDFE syndrome" EXACT [] synonym: "PITT-HOPKINS-LIKE SYNDROME 1" EXACT [] synonym: "PTHSL1" NARROW [] xref: ICD10CM:Q04.8 xref: MESH:C567657 xref: NCI:C133743 xref: ORDO:163681 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060488 ! Pitt-Hopkins syndrome [Term] id: DOID:0090131 name: complex cortical dysplasia with other brain malformations def: "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. (DO)" [PMID:20829227 "DO"] synonym: "CDCBM" EXACT [] synonym: "cerebral cortical dysplasia" EXACT [] synonym: "cerebral cortical dysplasias" EXACT [] synonym: "Cortical Development Malformation" EXACT [] synonym: "Cortical Dysplasia" EXACT [] synonym: "Cortical Dysplasias" EXACT [] synonym: "FCD" NARROW [] synonym: "Focal cortical dysplasia" NARROW [] synonym: "malformations of cerebral cortex development" EXACT [] synonym: "malformations of cortical development" EXACT [] xref: MESH:D054220 xref: MIM:PS614039 xref: MONDO:0000904 is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:936 ! brain disease [Term] id: DOID:0090132 name: complex cortical dysplasia with other brain malformations 7 def: "A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)" [https://ghr.nlm.nih.gov/condition/polymicrogyria "DO", MIM:610031 "DO", PMID:30016746 "DO"] synonym: "CDCBM7" EXACT [] synonym: "PMGYSA" EXACT [] synonym: "polymicrogyria due to TUBB2B mutation" EXACT [] synonym: "POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC" EXACT [] synonym: "TUBB2B-related condition" BROAD [] xref: MIM:610031 xref: MONDO:0012399 xref: ORDO:300573 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090133 name: complex cortical dysplasia with other brain malformations 2 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", MIM:615282 "DO", PMID:29048727 "DO"] synonym: "CDCBM2" EXACT [] synonym: "KIF5C-related condition" BROAD [] xref: MIM:615282 xref: MONDO:0014116 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090134 name: complex cortical dysplasia with other brain malformations 3 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", MIM:615411 "DO", PMID:29077851 "DO"] synonym: "CDCBM3" EXACT [] synonym: "KIF2A-related condition" BROAD [] xref: MIM:615411 xref: MONDO:0014170 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090135 name: complex cortical dysplasia with other brain malformations 5 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", MIM:615763 "DO"] synonym: "CDCBM5" EXACT [] synonym: "TUBB2A-related condition" BROAD [] xref: MIM:615763 xref: MONDO:0014337 xref: NCI:C189285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090136 name: complex cortical dysplasia with other brain malformations 6 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. (DO)" [MIM:615771 "DO", PMID:30936767 "DO"] synonym: "CDCBM56" RELATED [] synonym: "CDCBM6" EXACT [] xref: MIM:615771 xref: MONDO:0014341 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090137 name: complex cortical dysplasia with other brain malformations 1 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", MIM:614039 "DO", PMID:30016746 "DO"] synonym: "CDCBM1" EXACT [] synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [] synonym: "TUBB3-related condition" BROAD [] synonym: "TUBB3-related disorder" BROAD [] synonym: "TUBB3-related tubulinopathy" BROAD [] xref: GARD:13032 xref: MIM:614039 xref: MONDO:0013541 xref: ORDO:300570 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090138 name: complex cortical dysplasia with other brain malformations 4 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", MIM:615412 "DO"] synonym: "CDCBM4" EXACT [] synonym: "TUBG1-related condition" BROAD [] xref: MIM:615412 xref: MONDO:0014171 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090139 name: cortisone reductase deficiency alt_id: RDO:0002041 def: "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)" [https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency "DO", PMID:22476103 "DO"] synonym: "11-beta-hydroxysteroid dehydrogenase, type i, deficiency of" EXACT [] synonym: "Adrenal Androgen Excess" EXACT [] synonym: "Adrenal Hyperandrogenism" EXACT [] synonym: "CORTRD" EXACT [] xref: EFO:0009007 xref: GARD:9882 xref: MESH:C536447 xref: MIM:PS604931 is_a: DOID:11613 ! hyperandrogenism is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9004507 ! Hirsutism [Term] id: DOID:0090140 name: cortisone reductase deficiency 2 def: "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. (DO)" [MIM:614662 "DO", PMID:29843121 "DO"] synonym: "CORTRD2" EXACT [] synonym: "HSD11B1-RELATED CONDITION" EXACT [] xref: MIM:614662 xref: NCI:C131084 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090139 ! cortisone reductase deficiency [Term] id: DOID:0090141 name: cortisone reductase deficiency 1 alt_id: RDO:9003339 def: "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (DO)" [MIM:604931 "DO", PMID:29843121 "DO"] synonym: "CORTRD1" EXACT [] synonym: "H6PD-RELATED CONDITION" EXACT [] xref: MIM:604931 xref: NCI:C131849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090139 ! cortisone reductase deficiency created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0090142 name: cystathioninuria def: "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. (DO)" [MIM:219500 "DO", PMID:20584029 "DO"] synonym: "cystathionase deficiency" EXACT [] synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [] synonym: "gamma-cystathionase deficiency" EXACT [] xref: GARD:2428 xref: ICD10CM:E72.19 xref: MESH:C535408 xref: MESH:C562680 xref: MIM:219500 xref: MONDO:0009058 xref: NCI:C129070 xref: ORDO:212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9279 ! hyperhomocysteinemia [Term] id: DOID:0090143 name: brachyolmia-amelogenesis imperfecta syndrome alt_id: MIM:601216 def: "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. (DO)" [MIM:601216 "DO", PMID:30887145 "DO"] synonym: "DASS" EXACT [] synonym: "dental anomalies and short stature" EXACT [] synonym: "platyspondyly with amelogenesis imperfecta" EXACT [] synonym: "selective tooth agenesis 6" EXACT [] synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" EXACT [] synonym: "STHAG6" EXACT [] synonym: "Verloes Bourguignon syndrome" EXACT [] xref: GARD:5478 xref: ICD10CM:Q76.3 xref: MESH:C536538 xref: MESH:C567755 xref: ORDO:2899 is_a: DOID:0050690 ! brachyolmia is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0090144 name: Donnai-Barrow syndrome alt_id: MIM:222448 def: "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (DO)" [https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome "DO", MIM:222448 "DO"] synonym: "DBS-FOAR syndrome" EXACT [] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness" EXACT [] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [] synonym: "diaphragmatic hernia-exomphalos-corpus callosum agenesis" EXACT [] synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [] synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [] synonym: "facio-oculo-acoustico-renal syndrome" EXACT [] synonym: "faciooculoacousticorenal syndrome" EXACT [] synonym: "FOAR syndrome" EXACT [] synonym: "Holmes-Schepens syndrome" EXACT [] synonym: "LRP2-RELATED CONDITION" EXACT [] synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [] xref: GARD:1899 xref: MESH:C536390 xref: ORDO:2143 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:3827 ! congenital diaphragmatic hernia is_a: DOID:447 ! renal tubular transport disease is_a: DOID:576 ! proteinuria is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0090145 name: dopamine beta-hydroxylase deficiency def: "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency "DO", MIM:223360 "DO"] synonym: "congenital dopamine beta hydroxylase deficiency" EXACT [] synonym: "dopamine b-hydroxylase" EXACT [] synonym: "noradrenaline deficiency" EXACT [] synonym: "norepinephrine deficiency" EXACT [] synonym: "orthostatic hypotension 1" EXACT [] synonym: "ORTHYP1" EXACT [] xref: GARD:1903 xref: MESH:C535600 xref: MIM:223360 xref: MONDO:0009123 xref: ORDO:230 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005950 ! Orthostatic Hypotension [Term] id: DOID:0110000 name: 3-methylglutaconic aciduria type 5 alt_id: MIM:610198 alt_id: RDO:0014268 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. (DO)" [PMID:16055927 "DO"] synonym: "3-methylglutaconic aciduria type V" EXACT [] synonym: "DCMA" EXACT [] synonym: "DCMA syndrome" EXACT [] synonym: "dilated cardiomyopathy with ataxia" EXACT [] synonym: "DNAJC19-RELATED CONDITION" EXACT [] synonym: "MGA5" EXACT [] synonym: "MGA type V" EXACT [] synonym: "MGCA5" EXACT [] xref: MESH:C565706 xref: NCI:C173146 xref: ORDO:66634 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110001 name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)" [PMID:22683713 "DO"] synonym: "3-methylglutaconic aciduria type 6" EXACT [] synonym: "3-methylglutaconic aciduria type VI" EXACT [] synonym: "MEGDEL" EXACT [] synonym: "MEGDEL syndrome" EXACT [] synonym: "MGCA6" EXACT [] synonym: "SERAC1-RELATED DISORDER" EXACT [] synonym: "SERAC1-related neurological disorder" BROAD [] xref: MIM:614739 xref: MONDO:0013875 xref: ORDO:352328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:225 ! syndrome is_a: DOID:3652 ! Leigh disease is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110002 name: 3-methylglutaconic aciduria type 1 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (DO)" [PMID:12434311 "DO"] synonym: "3-methylglutaconic aciduria type I" EXACT [] synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [] synonym: "3MG-CoA hydratase deficiency" EXACT [] synonym: "AUH-RELATED DISORDER" EXACT [] synonym: "MGA1" EXACT [] synonym: "MGA type I" EXACT [] synonym: "MGCA1" EXACT [] xref: MESH:C562801 xref: MIM:250950 xref: MONDO:0009610 xref: ORDO:67046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110003 name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. (DO)" [PMID:25597510 "DO"] synonym: "3-methylglutaconic aciduria type 7" EXACT [] synonym: "3-methylglutaconic aciduria type VII" EXACT [] synonym: "3-methylglutaconic aciduria type VII, with cataracts, neurologic involvement and neutropenia" EXACT [] synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, autosomal recessive" NARROW [] synonym: "3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant" NARROW [] synonym: "CLPB-RELATED CONDITION" BROAD [] synonym: "MEGCANN" EXACT [] synonym: "MGA7" EXACT [] synonym: "MGCA7" EXACT [] xref: EFO:0009014 xref: ORDO:445038 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:1227 ! neutropenia is_a: DOID:83 ! cataract is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:0110004 name: 3-methylglutaconic aciduria type 3 alt_id: MIM:258501 def: "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (DO)" [PMID:11668429 "DO", PMID:12126933 "DO"] synonym: "3-methylglutaconic aciduria, type III" EXACT [] synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [] synonym: "autosomal recessive optic atrophy type 3" EXACT [] synonym: "Costeff optic atrophy syndrome" EXACT [] synonym: "Costeff syndrome" EXACT [] synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [] synonym: "Iraqi Jewish optic atrophy plus" EXACT [] synonym: "MGA3" EXACT [] synonym: "MGA, type III" EXACT [] synonym: "MGCA3" EXACT [] synonym: "OPA3, Autosomal Recessive" EXACT [] synonym: "Optic Atrophy 3, Autosomal Recessive" EXACT [] synonym: "optic atrophy plus syndrome" EXACT [] xref: MESH:C535311 xref: ORDO:67047 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:12859 ! choreatic disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0110005 name: Leber congenital amaurosis 9 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)" [PMID:22842230 "DO"] synonym: "amaurosis congenita of Leber, type 9" EXACT [] synonym: "LCA9" EXACT [] synonym: "Leber congenital amaurosis, type 9" EXACT [] synonym: "NMNAT1-RELATED RETINOPATHY" BROAD [] xref: MESH:C536603 xref: MIM:608553 xref: MONDO:0012056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110006 name: 3-methylglutaconic aciduria type 4 def: "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. (DO)" [PMID:21646875 "DO"] synonym: "3-methylglutaconic aciduria type IV" EXACT [] synonym: "MGA4" EXACT [] synonym: "MGA type IV" EXACT [] synonym: "MGCA4" EXACT [] xref: MESH:C565393 xref: MIM:250951 xref: MONDO:0009611 xref: ORDO:67048 is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0110007 name: achromatopsia 2 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. (DO)" [PMID:11536077 "DO", PMID:9662398 "DO"] synonym: "ACHM2" EXACT [] synonym: "CNGA3-related condition" BROAD [] synonym: "CNGA3-RELATED RETINOPATHY" EXACT [] synonym: "RMCH2" EXACT [] synonym: "Rod monochromacy 2" EXACT [] synonym: "Rod monochromatism 2" EXACT [] synonym: "total color blindness" EXACT [] synonym: "total colorblindness" EXACT [] xref: GARD:9649 xref: MESH:C536128 xref: MIM:216900 xref: MONDO:0009003 xref: NCI:C168757 xref: OMIA:001481 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110008 name: achromatopsia 3 alt_id: MIM:262300 alt_id: OMIA:001365 alt_id: OMIA:001676 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)" [PMID:10888875 "DO", PMID:17265047 "DO"] synonym: "ACHM1" EXACT [] synonym: "ACHM 3" EXACT [] synonym: "ACHM3" EXACT [] synonym: "Achromatopsia (cone degeneration, hemeralopia)" EXACT [] synonym: "Achromatopsia with myopia" EXACT [] synonym: "AMAL" NARROW [] synonym: "CNGB3-RELATED DISORDER" EXACT [] synonym: "CNGB3-RELATED RETINOPATHY" EXACT [] synonym: "GSPT" NARROW [] synonym: "Pingelapese" EXACT [] synonym: "Pingelapese Blindness" EXACT [] synonym: "RMCH1" EXACT [] synonym: "ROD MONOCHROMACY 1" EXACT [] synonym: "ROD MONOCHROMATISM 1" EXACT [] synonym: "total colorblindness with myopia" EXACT [] xref: GARD:9650 xref: MESH:C536129 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110009 name: achromatopsia 7 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. (DO)" [PMID:26029869 "DO", PMID:26063662 "DO"] synonym: "ACHM7" EXACT [] synonym: "ATF6-related condition" EXACT [] xref: MIM:616517 xref: MONDO:0014677 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110010 name: achromatopsia 4 alt_id: MIM:613856 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. (DO)" [PMID:12205108 "DO"] synonym: "ACHM4" EXACT [] synonym: "GNAT2-RELATED CONDITION" EXACT [] xref: MESH:C564206 is_a: DOID:13911 ! achromatopsia is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110011 name: advanced sleep phase syndrome 1 alt_id: MIM:604348 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. (DO)" [PMID:11232563 "DO"] synonym: "familial advanced sleep phase syndrome 1" EXACT [] synonym: "FASPS1" EXACT [] synonym: "PER2-RELATED CONDITION" EXACT [] xref: MESH:C565789 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110012 name: advanced sleep phase syndrome 2 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. (DO)" [PMID:15800623 "DO"] synonym: "familial advanced sleep phase syndrome 2" EXACT [] synonym: "FASPS2" EXACT [] xref: MIM:615224 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110013 name: advanced sleep phase syndrome 3 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. (DO)" [PMID:26903630 "DO"] synonym: "familial advanced sleep phase syndrome 3" EXACT [] synonym: "FASPS3" EXACT [] synonym: "PER3-RELATED CONDITION" EXACT [] xref: MIM:616882 is_a: DOID:0050628 ! advanced sleep phase syndrome is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:0110014 name: age related macular degeneration 1 def: "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. (DO)" [PMID:14570714 "DO", PMID:9715689 "DO"] synonym: "age related maculopathy 1" EXACT [] synonym: "APOE2 Isoforms" RELATED [] synonym: "ARMD1" EXACT [] synonym: "HMCN1-related condition" BROAD [] xref: MESH:C566411 xref: MIM:603075 xref: MONDO:0011285 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110015 name: age related macular degeneration 2 alt_id: MIM:153800 def: "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. (DO)" [PMID:10396622 "DO"] synonym: "age related macular degeneration 2, susceptibility to" RELATED [] synonym: "age related maculopathy 2" EXACT [] synonym: "ARMD2" EXACT [] xref: MESH:C562479 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110016 name: Leber congenital amaurosis 2 alt_id: MIM:204100 alt_id: OMIA:001222 def: "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. (DO)" [PMID:9326927 "DO"] synonym: "amaurosis congenita of Leber II" EXACT [] synonym: "EARLY-ONSET RETINAL DYSTROPHY" EXACT [] synonym: "LCA2" EXACT [] synonym: "Leber congenital amaurosis type 2" EXACT [] synonym: "Leber congenital amaurosis type II" EXACT [] synonym: "RPE65-related disorder" BROAD [] xref: MESH:C536601 xref: MONDO:0008765 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110017 name: age related macular degeneration 4 alt_id: MIM:610698 def: "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. (DO)" [PMID:15761120 "DO"] synonym: "ARMD4" EXACT [] xref: MESH:C565196 xref: NCI:C174215 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110018 name: age related macular degeneration 6 alt_id: MIM:613757 def: "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. (DO)" [PMID:15028672 "DO"] synonym: "ARMD6" EXACT [] xref: MESH:C563674 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110019 name: age related macular degeneration 7 def: "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. (DO)" [PMID:17053108 "DO"] synonym: "age-related macular degeneration, neovascular type" RELATED [] synonym: "age-related macular degeneration, neovascular type, susceptibility" RELATED [] synonym: "age-related macular degeneration, wet type" RELATED [] synonym: "age-related macular degeneration, wet type, susceptibility to" RELATED [] synonym: "ARMD7" EXACT [] synonym: "susceptibility to neovascular type of age-related macular degeneration" RELATED [] xref: MESH:C565718 xref: MIM:610149 xref: MONDO:0012419 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110020 name: age related macular degeneration 8 def: "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. (DO)" [PMID:17210852 "DO"] synonym: "ARMD8" EXACT [] synonym: "ARMS2-related condition" BROAD [] xref: MIM:613778 xref: MONDO:0013416 is_a: DOID:10871 ! age related macular degeneration is_a: DOID:630 ! genetic disease [Term] id: DOID:0110021 name: age related macular degeneration 9 def: "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. (DO)" [PMID:24036952 "DO"] synonym: "age related macular degeneration 9, susceptibility to" RELATED [] synonym: "ARMD9" EXACT [] synonym: "C3S/C3F POLYMORPHISM" RELATED [] xref: MESH:C566958 xref: MIM:611378 xref: MONDO:0012659 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110022 name: age related macular degeneration 10 alt_id: MIM:611488 def: "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. (DO)" [PMID:14691731 "DO", PMID:15829498 "DO"] synonym: "age related macular degeneration 10, susceptibility to" RELATED [] synonym: "ARMD10" EXACT [] xref: MESH:C566935 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110023 name: age related macular degeneration 11 alt_id: MIM:611953 def: "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. (DO)" [PMID:11815350 "DO", PMID:25893795 "DO"] synonym: "ARMD11" EXACT [] xref: MESH:C567450 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110024 name: age related macular degeneration 12 def: "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. (DO)" [PMID:15208270 "DO", PMID:17909628 "DO"] synonym: "ARMD12" EXACT [] xref: MIM:613784 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110025 name: age related macular degeneration 13 def: "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. (DO)" [PMID:23685748 "DO"] synonym: "age-related macular degeneration 13, susceptibility to" RELATED [] synonym: "ARMD13" EXACT [] xref: MIM:615439 xref: NCI:C187704 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110026 name: age related macular degeneration 14 def: "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. (DO)" [PMID:16518403 "DO"] synonym: "ARMD14" EXACT [] synonym: "C2-RELATED CONDITION" BROAD [] synonym: "C2-RELATED DISORDER" BROAD [] synonym: "MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF" NARROW [] xref: MIM:615489 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110027 name: age related macular degeneration 15 def: "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. (DO)" [PMID:24036952 "DO"] synonym: "ARMD15" EXACT [] synonym: "C9-RELATED CONDITION" BROAD [] xref: MIM:615591 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110028 name: age related macular degeneration 5 def: "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [PMID:16754848 "DO"] synonym: "ARMD5" EXACT [] xref: MIM:613761 xref: MONDO:0013409 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110029 name: alpha thalassemia-intellectual disability syndrome type 1 alt_id: MIM:141750 def: "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. (DO)" [PMID:15921166 "DO", PMID:18076105 "DO"] synonym: "alpha thalassemia/impaired intellectual development syndrome, deletion type" EXACT [] synonym: "alpha-thalassemia/mental retardation syndrome, chromosome 16-related" EXACT [] synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT [] synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [] synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [] synonym: "Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type" EXACT [] synonym: "alpha thalassemia-retardation syndrome" EXACT [] synonym: "ATR-16 syndrome" EXACT [] synonym: "ATR, deletion-type" EXACT [] synonym: "ATR syndrome, deletion type" EXACT [] synonym: "ATR syndrome linked to chromosome 16" EXACT [] synonym: "CHROMOSOME 16p DELETION SYNDROME" EXACT [] synonym: "HBHR" EXACT [] synonym: "hemoglobin H-related mental retardation" EXACT [] synonym: "mental retardation with hemoglobin H" EXACT [] xref: MESH:C563050 xref: ORDO:98791 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:1099 ! alpha thalassemia [Term] id: DOID:0110030 name: alpha thalassemia-X-linked intellectual disability syndrome alt_id: MIM:301040 def: "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (DO)" [PMID:1415255 "DO", PMID:7697714 "DO"] synonym: "ALPHA-THALASSEMIA/INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "alpha-thalassemia-mental retardation syndrome, nondeletion type" EXACT [] synonym: "alpha-thalassemia mental retardation syndrome, non deletion type, X-linked" EXACT [] synonym: "alpha-thalassemia-mental retardation syndrome, nondeletion type, X-linked" EXACT [] synonym: "alpha-thalassemia-mental retardation, X-linked" EXACT [] synonym: "Alpha-thalassemia X-linked mental retardation syndrome" EXACT [] synonym: "ATR non deletion type" EXACT [] synonym: "ATR, nondeletion type" EXACT [] synonym: "ATRX" EXACT [] synonym: "ATRX-RELATED DISORDER" BROAD [] synonym: "ATR-X-RELATED SYNDROME" EXACT [] synonym: "ATR-X syndrome" EXACT [] synonym: "ATRX syndrome" EXACT [] synonym: "X-linked alpha-thalassemia/impaired intellectual development syndrome" EXACT [] synonym: "XLMR-hypotonic face syndrome" RELATED [] xref: GARD:5864 xref: ICD10CM:D56.0 xref: MESH:C538258 xref: NCI:C118631 xref: ORDO:847 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:1099 ! alpha thalassemia is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0110031 name: hemoglobin H disease def: "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. (DO)" [PMID:12393486 "DO"] synonym: "alpha thalassemia, haemoglobin H type" EXACT [] synonym: "alpha thalassemia, hemoglobin H type" EXACT [] synonym: "alpha-thalassemia intermedia" EXACT [] synonym: "haemoglobin H disease" EXACT [] synonym: "haemoglobin H disease, deletional" EXACT [] synonym: "HBH" EXACT [] synonym: "Hb H disease" EXACT [] synonym: "hemoglobin H disease, deletional" EXACT [] synonym: "hemoglobin H disease, nondeletional" EXACT [] xref: MIM:613978 xref: ORDO:93616 is_a: DOID:1099 ! alpha thalassemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110032 name: autosomal dominant Alport syndrome 3A def: "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. (DO)" [PMID:11044206 "DO"] synonym: "Alport syndrome 3, autosomal dominant" RELATED [] synonym: "ATS3" RELATED [] synonym: "ATS3A" EXACT [] synonym: "autosomal dominant Alport syndrome" EXACT [] synonym: "renal failure, and sensorineural hearing loss" EXACT [] xref: GARD:624 xref: MESH:C536586 xref: MIM:104200 xref: ORDO:88918 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110033 name: autosomal recessive Alport syndrome alt_id: MIM:203780 alt_id: MIM:620536 def: "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. (DO)" [PMID:25575550 "DO"] synonym: "Alport syndrome-2" EXACT [] synonym: "Alport syndrome 2, autosomal recessive" EXACT [] synonym: "Alport syndrome 3B, autosomal recessive" EXACT [] synonym: "Alport syndrome type 2" EXACT [] synonym: "ATS2" EXACT [] synonym: "ATS3B" EXACT [] synonym: "COL4A4-RELATED CONDITION" BROAD [] synonym: "COL4A4-RELATED DISORDER" BROAD [] xref: GARD:625 xref: MESH:C536587 xref: MONDO:0008762 xref: ORDO:88919 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110034 name: X-linked Alport syndrome alt_id: OMIA:001112 def: "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)" [PMID:2349482 "DO"] synonym: "ALPORT SYNDROME 1, X-LINKED RECESSIVE" EXACT [] synonym: "ATS" EXACT [] synonym: "ATS1" EXACT [] synonym: "COL4A5-RELATED CONDITION" EXACT [] synonym: "nephropathy and deafness, X-linked" EXACT [] synonym: "X-linked Alport syndrome-1" EXACT [] synonym: "X-linked nephritis" EXACT [] xref: MIM:301050 xref: ORDO:88917 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:10983 ! Alport syndrome is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110035 name: Alzheimer's disease 2 alt_id: MIM:104310 def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. (DO)" [PMID:8346443 "DO"] synonym: "AD2" EXACT [] synonym: "Alzheimer's Disease Type 2" EXACT [] synonym: "Alzheimer Disease 2" EXACT [] synonym: "Alzheimer Disease 2, Late-Onset" EXACT [] synonym: "Alzheimer Disease Associated With Apoe4" EXACT [] synonym: "Alzheimer disease associated with APOE E4" EXACT [] synonym: "Alzheimer Disease Type 2" EXACT [] synonym: "BCHE, K VARIANT" RELATED [] synonym: "CHE*539T" RELATED [] synonym: "late-onset familial Alzheimer disease" EXACT [] xref: MESH:C536595 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110036 name: Alzheimer's disease 16 alt_id: MIM:300756 def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. (DO)" [PMID:19136949 "DO"] synonym: "AD16" EXACT [] synonym: "Alzheimer's disease 16, late onset" EXACT [] synonym: "Alzheimer Disease 16" EXACT [] xref: MESH:C567463 xref: RDO:0015527 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110037 name: Alzheimer's disease 5 alt_id: MIM:602096 alt_id: RDO:0014894 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. (DO)" [PMID:9333264 "DO"] synonym: "AD5" EXACT [] synonym: "Alzheimer's disease 5, late onset" EXACT [] synonym: "Alzheimer Disease 5" EXACT [] synonym: "Alzheimer Disease, Familial, 5" EXACT [] xref: MESH:C566578 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110038 name: Alzheimer's disease 6 alt_id: MIM:605526 alt_id: RDO:0013995 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. (DO)" [PMID:16385451 "DO"] synonym: "AD6" EXACT [] synonym: "Alzheimer Disease 6" EXACT [] synonym: "Alzheimer Disease 6, Late-Onset" NARROW [] xref: MESH:C565325 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110039 name: Alzheimer's disease 7 alt_id: MIM:606187 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. (DO)" [PMID:11443525 "DO"] synonym: "AD7" EXACT [] synonym: "Alzheimer Disease 7" EXACT [] synonym: "Alzheimer Disease, Familial, 7" EXACT [] xref: MESH:C565251 xref: RDO:0013945 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110040 name: Alzheimer's disease 4 def: "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. (DO)" [PMID:12925374 "DO", PMID:7638622 "DO", PMID:7651536 "DO"] synonym: "AD4" EXACT [] synonym: "Alzheimer's disease 4, early onset" EXACT [] synonym: "Alzheimer's disease type 4" EXACT [] synonym: "Alzheimer disease 4" EXACT [] synonym: "Alzheimer disease, familial, 4" EXACT [] synonym: "Alzheimer disease, familial4" EXACT [] synonym: "Alzheimer disease, familial, type 4" EXACT [] synonym: "Alzheimer disease type 4" EXACT [] synonym: "PSEN2-RELATED DISORDER" BROAD [] xref: MESH:C536596 xref: MIM:606889 xref: MONDO:0011743 xref: NCI:C123413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110041 name: Alzheimer's disease 8 alt_id: MIM:607116 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. (DO)" [PMID:9008509 "DO"] synonym: "AD8" EXACT [] synonym: "Alzheimer's disease 8, late onset" EXACT [] synonym: "Alzheimer disease 8" EXACT [] synonym: "Alzheimer disease, familial, 8" EXACT [] xref: MESH:C564622 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110042 name: Alzheimer's disease 3 def: "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. (DO)" [PMID:1303290 "DO", PMID:7596406 "DO"] synonym: "AD3" EXACT [] synonym: "Alzheimer disease 3" EXACT [] synonym: "Alzheimer disease 3, early-onset" EXACT [] synonym: "Alzheimer disease familial 3" EXACT [] synonym: "Alzheimer disease, familial, type 3" EXACT [] synonym: "Alzheimer disease, type 3" EXACT [] synonym: "EARLY ONSET ALZHEIMER DISEASE WITH BEHAVIORAL DISTURBANCE" NARROW [] xref: MESH:C536598 xref: MIM:607822 xref: MONDO:0011913 xref: NCI:C123412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110043 name: Alzheimer's disease 10 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. (DO)" [PMID:16175510 "DO"] synonym: "AD10" EXACT [] synonym: "Alzheimer's disease 10, early onset" EXACT [] synonym: "Alzheimer disease 10" EXACT [] synonym: "Alzheimer disease, familial 10" EXACT [] xref: ICD10CM:G30 xref: MESH:C566465 xref: MIM:609636 xref: MONDO:0012321 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110044 name: Alzheimer's disease 11 alt_id: MIM:609790 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. (DO)" [PMID:18761660 "DO"] synonym: "AD11" EXACT [] synonym: "Alzheimer's disease 11, late onset" EXACT [] synonym: "Alzheimer disease 11" EXACT [] synonym: "Alzheimer disease, familial 11" EXACT [] xref: MESH:C565228 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110045 name: Alzheimer's disease 12 alt_id: MIM:611073 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. (DO)" [PMID:16825432 "DO"] synonym: "AD12" EXACT [] synonym: "Alzheimer disease 12" EXACT [] synonym: "Alzheimer disease familial 12" EXACT [] xref: MESH:C567022 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110046 name: Alzheimer's disease 13 alt_id: MIM:611152 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. (DO)" [PMID:17564960 "DO"] synonym: "AD13" EXACT [] synonym: "Alzheimer's disease 13, late onset" EXACT [] synonym: "Alzheimer disease 13" EXACT [] xref: MESH:C567000 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110047 name: Alzheimer's disease 14 alt_id: MIM:611154 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. (DO)" [PMID:17564960 "DO"] synonym: "AD14" EXACT [] synonym: "Alzheimer's disease 14, late onset" EXACT [] synonym: "Alzheimer disease 14" EXACT [] xref: MESH:C566999 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110048 name: Alzheimer's disease 15 alt_id: MESH:C536599 alt_id: MIM:604154 def: "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. (DO)" [PMID:17564960 "DO"] synonym: "AD15" EXACT [] synonym: "Alzheimer's disease 15, late onset" EXACT [] synonym: "Alzheimer's disease without neurofibrillary tangles" EXACT [] synonym: "Alzheimer's disease without Tau pathology" EXACT [] synonym: "Alzheimer disease 15" EXACT [] synonym: "Alzheimer disease without neurofibrillary tangles" EXACT [] xref: GARD:7190 xref: MESH:C566998 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110049 name: Alzheimer's disease 17 def: "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. (DO)" [PMID:23150934 "DO"] synonym: "AD17" EXACT [] synonym: "Alzheimer disease 17" EXACT [] synonym: "Alzheimer disease 17, late onset" EXACT [] synonym: "TREM2-RELATED DISORDER" RELATED [] xref: MIM:615080 xref: MONDO:0014036 xref: NCI:C169104 is_a: DOID:10652 ! Alzheimer's disease created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:0110050 name: Alzheimer's disease 18 def: "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. (DO)" [PMID:19608551 "DO"] synonym: "AD18" EXACT [] synonym: "Alzheimer's disease 18, late onset" EXACT [] synonym: "Alzheimer disease 18" EXACT [] synonym: "late-onset Alzheimer disease-18" EXACT [] xref: MIM:615590 xref: NCI:C214853 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110051 name: Alzheimer's disease 19 def: "An Alzheimer's disease that is characterized by associated variants of the gene PLD3. (DO)" [PMID:24336208 "DO", PMID:25832408 "DO"] synonym: "AD19" EXACT [] synonym: "Alzheimer disease 19" EXACT [] synonym: "Alzheimer disease 19 late onset" EXACT [] synonym: "ALZHEIMER DISEASE 19, SUSCEPTIBILITY TO" RELATED [] xref: MIM:615711 xref: MONDO:0014316 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110052 name: amelogenesis imperfecta type 1B def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. (DO)" [PMID:11487571 "DO"] synonym: "AI1B" EXACT [] synonym: "AIH2" EXACT [] synonym: "amelogenesis imperfecta, dominant" RELATED [] synonym: "amelogenesis imperfecta type IB" EXACT [] synonym: "hereditary localized enamel hypoplasia" EXACT [] synonym: "hypoplastic local amelogenesis imperfecta, autosomal dominant" EXACT [] xref: MESH:C562879 xref: MIM:104500 xref: MONDO:0007092 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110053 name: amelogenesis imperfecta type 4 alt_id: MIM:104510 alt_id: RDO:0014687 def: "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. (DO)" [PMID:15666299 "DO"] synonym: "AI4" EXACT [] synonym: "AIHHT" EXACT [] synonym: "Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism" EXACT [] synonym: "amelogenesis imperfecta type IV" EXACT [] synonym: "DLX3-RELATED CONDITION" BROAD [] xref: MESH:C566293 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110054 name: amelogenesis imperfecta type 1A def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. (DO)" [PMID:23632796 "DO", PMID:23958762 "DO"] synonym: "AI1A" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA" EXACT [] synonym: "amelogenesis imperfecta, local hypoplastic form" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, TYPE IA" EXACT [] synonym: "generalized microdontia" EXACT [] synonym: "Hypoplastic type amelogenesis imperfecta" EXACT [] synonym: "Local, hypoplastic type of amelogenesis imperfecta" EXACT [] xref: MESH:C538240 xref: MIM:104530 xref: MONDO:0007094 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110055 name: amelogenesis imperfecta type 3A alt_id: MIM:130900 def: "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. (DO)" [PMID:18252228 "DO", PMID:18484629 "DO"] synonym: "ADHCAI" EXACT [] synonym: "AI3A" EXACT [] synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" EXACT [] synonym: "amelogenesis imperfecta hypomineralization type" EXACT [] synonym: "amelogenesis imperfecta type IIIA" EXACT [] synonym: "FAM83H-RELATED CONDITION" EXACT [] xref: MESH:C562880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0110056 name: amelogenesis imperfecta type 1C alt_id: MIM:204650 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). (DO)" [PMID:14684688 "DO"] synonym: "AI1C" EXACT [] synonym: "Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive" EXACT [] synonym: "amelogenesis imperfecta, recessive" RELATED [] synonym: "amelogenesis imperfecta type IC" EXACT [] synonym: "hypoplastic amelogenesis imperfecta, with or without openbite malocclusion, autosomal recessive" EXACT [] xref: MESH:C567147 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110057 name: amelogenesis imperfecta type 2A1 alt_id: MESH:C538242 alt_id: MIM:204700 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (DO)" [PMID:15235027 "DO", PMID:23355523 "DO"] synonym: "AI2A1" EXACT [] synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" EXACT [] synonym: "amelogenesis imperfecta pigmented hypomaturation type" EXACT [] synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [] synonym: "amelogenesis imperfecta type IIA1" EXACT [] synonym: "KLK4-RELATED CONDITION" EXACT [] xref: GARD:9495 xref: MESH:C567146 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110058 name: amelogenesis imperfecta type 1E def: "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). (DO)" [https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta "DO", MIM:301200 "DO"] synonym: "AI1E" EXACT [] synonym: "AIH1" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH" EXACT [] synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [] synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1" EXACT [] synonym: "amelogenesis imperfecta, type 1E, with snow-capped teeth" EXACT [] synonym: "amelogenesis imperfecta type IE" EXACT [] synonym: "amelogenesis imperfecta, X-linked 1" EXACT [] synonym: "AMELX-related condition" BROAD [] synonym: "X-linked enamel hypoplasia" BROAD [] xref: MESH:C538243 xref: MESH:C564463 xref: MIM:301200 xref: MONDO:0010521 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110059 name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 alt_id: DOID:9000847 def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. (DO)" [PMID:1358807 "DO"] synonym: "AIH3" EXACT [] synonym: "Amelogenesis imperfecta 3, hypoplastic type" EXACT [] synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [] synonym: "Atrophodermia reticulata" EXACT [] synonym: "Atrophodermia reticulata symmetrica faciei" EXACT [] synonym: "Atrophodermia vermiculata" EXACT [] synonym: "Burnett Schwartz Berberian Syndrome" EXACT [] synonym: "Folliculitis ulerythematosa" EXACT [] synonym: "Folliculitis ulerythematosa reticulata" EXACT [] synonym: "Honeycomb atrophy" EXACT [] synonym: "Keratosis pilaris" EXACT [] synonym: "Keratosis Pilaris Atrophicans Facies" EXACT [] synonym: "Ulerythema ophryogenes" EXACT [] synonym: "Ulerythema ophryogenesis" EXACT [] synonym: "Ulerythema ophryogenes with multiple congenital anomalies" EXACT [] synonym: "X-linked enamel hypoplasia" BROAD [] xref: MESH:C537412 xref: MIM:301201 xref: MONDO:0018855 is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome is_a: DOID:2734 ! keratosis follicularis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0110060 name: amelogenesis imperfecta hypomaturation type 2A2 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)" [PMID:15744043 "DO"] synonym: "AI2A2" EXACT [] synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [] synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" EXACT [] synonym: "amelogenesis imperfecta type IIA2" EXACT [] xref: MESH:C567279 xref: MIM:612529 xref: MONDO:0012926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110061 name: amelogenesis imperfecta hypomaturation type 2A3 alt_id: MIM:613211 def: "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. (DO)" [PMID:19853237 "DO"] synonym: "AI2A3" EXACT [] synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [] synonym: "amelogenesis imperfecta type IIA3" EXACT [] synonym: "WDR72-RELATED DISORDER" EXACT [] xref: MESH:C567706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110062 name: amelogenesis imperfecta hypomaturation type 2A4 def: "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. (DO)" [PMID:22901946 "DO"] synonym: "AI2A4" EXACT [] synonym: "amelogenesis imperfecta, hypomaturation type IIA4" EXACT [] synonym: "amelogenesis imperfecta type IIA4" EXACT [] xref: MIM:614832 xref: MONDO:0013906 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110063 name: amelogenesis imperfecta hypomaturation type 2A5 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. (DO)" [PMID:23375655 "DO"] synonym: "AI2A5" EXACT [] synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" EXACT [] synonym: "amelogenesis imperfecta type IIA5" EXACT [] synonym: "SLC24A4-RELATED DISORDER" EXACT [] xref: MIM:615887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110064 name: amelogenesis imperfecta type 1H alt_id: RDO:9001338 def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. (DO)" [PMID:24305999 "DO", PMID:24319098 "DO"] synonym: "AI1H" EXACT [] synonym: "amelogenesis imperfecta type IH" EXACT [] synonym: "ITGB6-RELATED CONDITION" EXACT [] xref: ICD10CM:K00.5 xref: MIM:616221 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110065 name: amelogenesis imperfecta type 1F def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. (DO)" [PMID:24858907 "DO"] synonym: "AI1F" EXACT [] synonym: "AMBN-RELATED CONDITION" EXACT [] synonym: "amelogenesis imperfecta, hypoplastic type 1F" EXACT [] synonym: "amelogenesis imperfecta, hypoplastic type IF" EXACT [] synonym: "amelogenesis imperfecta type IF" EXACT [] xref: MIM:616270 xref: MONDO:0014560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110066 name: amelogenesis imperfecta type 1G alt_id: MIM:204690 def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (DO)" [PMID:23468644 "DO", PMID:24196488 "DO"] synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" EXACT [] synonym: "AI1G" EXACT [] synonym: "AIGFS" EXACT [] synonym: "AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS" EXACT [] synonym: "amelogenesis imperfecta nephrocalcinosis" EXACT [] synonym: "amelogenesis imperfecta type IG" EXACT [] synonym: "enamel-renal-gingival syndrome" EXACT [] synonym: "enamel renal syndrome" EXACT [] synonym: "ERS" EXACT [] synonym: "generalized enamel hypoplasia and renal dysfunction" EXACT [] synonym: "hypoplastic amelogenesis imperfecta and nephrocalcinosis" EXACT [] xref: MESH:C538241 xref: ORDO:1031 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110067 name: juvenile amyotrophic lateral sclerosis with dementia def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. (DO)" [PMID:5692341 "DO"] synonym: "ALS-dementia complex" EXACT [1] xref: MESH:C565956 xref: MIM:205200 xref: MONDO:0008781 is_a: DOID:1307 ! dementia is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0110068 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [PMID:22084127 "DO"] synonym: "FTDALS3" EXACT [] xref: MIM:616437 xref: MONDO:0014640 is_a: DOID:630 ! genetic disease is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0110069 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. (DO)" [PMID:25700176 "DO"] synonym: "FTDALS4" EXACT [] xref: MIM:616439 xref: NCI:C214864 is_a: DOID:630 ! genetic disease is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0110070 name: arrhythmogenic right ventricular dysplasia 1 alt_id: MIM:107970 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)" [PMID:15639475 "DO"] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1" EXACT [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 1" EXACT [] synonym: "ARVC1" EXACT [] synonym: "ARVD1" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [] synonym: "right ventricular dilated cardiomyopathy" RELATED [] synonym: "TGFB3-RELATED CONDITION" BROAD [] synonym: "UHL ANOMALY" RELATED [] xref: ICD10CM:I42.8 xref: ICD10CM:Q24.8 xref: MESH:C566254 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110072 name: arrhythmogenic right ventricular dysplasia 3 alt_id: MIM:602086 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. (DO)" [PMID:8824801 "DO"] synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 3" EXACT [] synonym: "ARVC3" EXACT [] synonym: "ARVD3" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT [] xref: MESH:C566584 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110073 name: arrhythmogenic right ventricular dysplasia 4 alt_id: MIM:602087 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. (DO)" [PMID:9344647 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT [] synonym: "ARVC4" EXACT [] synonym: "ARVD4" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 4" EXACT [] xref: MESH:C566583 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110074 name: arrhythmogenic right ventricular dysplasia 5 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. (DO)" [PMID:18313022 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 5" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia, type 5" EXACT [] synonym: "ARVC5" EXACT [] synonym: "ARVD5" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [] xref: MESH:C565776 xref: MIM:604400 xref: MONDO:0011459 xref: NCI:C173470 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110075 name: arrhythmogenic right ventricular dysplasia 6 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. (DO)" [PMID:10631146 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 6" EXACT [] synonym: "ARVC6" EXACT [] synonym: "ARVD6" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT [] xref: MESH:C565775 xref: MIM:604401 xref: MONDO:0011460 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy [Term] id: DOID:0110076 name: arrhythmogenic right ventricular dysplasia 8 alt_id: MIM:607450 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)" [PMID:12373648 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy, type 8" EXACT [] synonym: "ARVC8" EXACT [] synonym: "ARVD8" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [] xref: MESH:C564400 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110077 name: arrhythmogenic right ventricular dysplasia 9 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. (DO)" [PMID:15489853 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy, type 9" EXACT [] synonym: "ARVC9" EXACT [] synonym: "ARVD9" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [] xref: MESH:C563808 xref: MIM:609040 xref: MONDO:0012180 xref: NCI:C173471 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110078 name: Leber congenital amaurosis 1 def: "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. (DO)" [PMID:8944027 "DO"] synonym: "amaurosis congenita of Leber I" EXACT [] synonym: "amaurosis congenita of Leber, type 1" EXACT [] synonym: "CRB" EXACT [] synonym: "LCA1" EXACT [] synonym: "Leber congenital amaurosis, type 1" EXACT [] xref: MESH:C536600 xref: MIM:204000 xref: MONDO:0008764 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110079 name: Leber congenital amaurosis 8 def: "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)" [PMID:11231775 "DO"] synonym: "LCA8" EXACT [] xref: MIM:613835 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110080 name: Leber congenital amaurosis 12 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. (DO)" [PMID:17186464 "DO"] synonym: "LCA12" EXACT [] synonym: "RD3-RELATED CONDITION" EXACT [] synonym: "Rod-cone dysplasia 2" EXACT [] xref: MESH:C565697 xref: MIM:610612 xref: OMIA:001260 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110081 name: arrhythmogenic right ventricular dysplasia 10 alt_id: MIM:610193 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. (DO)" [PMID:16505173 "DO", PMID:17105751 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy, type 10" EXACT [] synonym: "ARVC10" EXACT [] synonym: "ARVD10" EXACT [] synonym: "DSG2-RELATED CONDITION" BROAD [] synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT [] xref: MESH:C565707 xref: MONDO:0012434 xref: NCI:C177248 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110082 name: arrhythmogenic right ventricular dysplasia 11 alt_id: MIM:610476 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. (DO)" [PMID:17033975 "DO"] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11" NARROW [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11" EXACT [] synonym: "ARVC11" EXACT [] synonym: "ARVD11" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11, and mild palmoplantar keratoderma with or without woolly hair" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11, with mild palmoplantar keratoderma and woolly hair" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11, with or without mild palmoplantar keratoderma" EXACT [] xref: MESH:C566471 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy [Term] id: DOID:0110083 name: arrhythmogenic right ventricular dysplasia 12 alt_id: MIM:611528 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)" [PMID:17924338 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT [] synonym: "ARVC12" EXACT [] synonym: "ARVD12" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [] synonym: "JUP-RELATED DISORDER" BROAD [] xref: MESH:C566925 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110084 name: arrhythmogenic right ventricular dysplasia 13 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. (DO)" [PMID:23136403 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [] synonym: "ARVC13" EXACT [] synonym: "ARVD13" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT [] xref: MIM:615616 xref: NCI:C176008 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110085 name: asphyxiating thoracic dystrophy 1 alt_id: MIM:208500 def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13. (DO)" [PMID:20503315 "DO"] synonym: "asphyxiating thoracic chondrodystrophy" EXACT [] synonym: "asphyxiating thoracic dysplasia" EXACT [] synonym: "ATD1" EXACT [] synonym: "chondroectodermal dysplasia-like syndrome" EXACT [] synonym: "infantile thoracic dystrophy" EXACT [] synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [] synonym: "SRTD1" EXACT [] synonym: "thoracic asphyxiant dystrophy" EXACT [] xref: MESH:C537571 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12714 ! Ellis-Van Creveld syndrome [Term] id: DOID:0110086 name: asphyxiating thoracic dystrophy 2 alt_id: MIM:611263 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)" [PMID:17468754 "DO"] synonym: "ATD2" EXACT [] synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [] synonym: "SRTD2" EXACT [] xref: MESH:C566982 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12714 ! Ellis-Van Creveld syndrome [Term] id: DOID:0110087 name: asphyxiating thoracic dystrophy 3 alt_id: DOID:0050549 alt_id: MIM:613091 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. (DO)" [PMID:19442771 "DO"] synonym: "ATD3" EXACT [] synonym: "DYNC2H1-related condition" BROAD [] synonym: "DYNC2H1-related disorder" BROAD [] synonym: "polydactyly with neonatal chondrodystrophy, type 1" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type 3" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type III" EXACT [] synonym: "Saldino-Noonan syndrome" EXACT [] synonym: "short rib polydactyly syndrome, Saldino Noonan type" EXACT [] synonym: "short rib polydactyly syndrome type 1" EXACT [] synonym: "short rib-polydactyly syndrome, type I" EXACT [] synonym: "short rib-polydactyly syndrome, type IIB" EXACT [] synonym: "short rib-polydactyly syndrome, type III" EXACT [] synonym: "short rib-polydactyly syndrome, Verma-Naumoff type" EXACT [] synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [] synonym: "SRPS1" EXACT [] synonym: "SRPS2B" EXACT [] synonym: "SRPS3" EXACT [] synonym: "SRPS type 1" EXACT [] synonym: "SRTD3" EXACT [] synonym: "Verma-Naumoff syndrome" EXACT [] xref: GARD:4834 xref: GARD:4835 xref: MESH:C537602 xref: NCI:C163755 xref: ORDO:93270 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110088 name: asphyxiating thoracic dystrophy 4 def: "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)" [PMID:21258341 "DO"] synonym: "ATD4" EXACT [] synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [] synonym: "SRTD4" EXACT [] synonym: "TTC21B-related disorder" BROAD [] xref: MIM:613819 xref: MONDO:0013441 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11162 ! respiratory failure [Term] id: DOID:0110089 name: asphyxiating thoracic dystrophy 5 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [PMID:22019273 "DO"] synonym: "ATD5" EXACT [] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [] synonym: "SRTD5" EXACT [] xref: MIM:614376 xref: MONDO:0013717 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11162 ! respiratory failure [Term] id: DOID:0110090 name: short-rib thoracic dysplasia 7 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (DO)" [PMID:17935248 "DO", PMID:21473986 "DO"] synonym: "short rib-polydactyly syndrome 5" EXACT [] synonym: "short rib-polydactyly syndrome type V" EXACT [] synonym: "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC" NARROW [] synonym: "short-rib thoracic dysplasia 7 without polydactyly" NARROW [] synonym: "short-rib thoracic dysplasia 7 with polydactyly, digenic" NARROW [] synonym: "SRPS5" EXACT [] synonym: "SRTD7" EXACT [] synonym: "WDR35-related disorder" BROAD [] xref: MIM:614091 xref: MONDO:0013569 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110091 name: short-rib thoracic dysplasia 10 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)" [PMID:24140113 "DO"] synonym: "short-rib thoracic dysplasia 10 without polydactyly" NARROW [] synonym: "short-rib thoracic dysplasia 10 with polydactyly" NARROW [] synonym: "SRTD10" EXACT [] xref: MIM:615630 xref: MONDO:0014284 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110092 name: short-rib thoracic dysplasia 6 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [PMID:21211617 "DO", PMID:22499340 "DO"] synonym: "Majewski syndrome" EXACT [] synonym: "NEK1-related condition" BROAD [] synonym: "polydactyly with neonatal chondrodystrophy, type 2" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [] synonym: "short rib-polydactyly syndrome, type II" EXACT [] synonym: "short rib-polydactyly syndrome, type IIA" EXACT [] synonym: "SRPS2A" EXACT [] synonym: "SRPS type II" EXACT [] synonym: "SRTD6" EXACT [] xref: MIM:263520 xref: MONDO:0009894 xref: NCI:C122654 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110093 name: short-rib thoracic dysplasia 13 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. (DO)" [PMID:25361962 "DO"] synonym: "CEP120-RELATED CONDITION" BROAD [] synonym: "SRTD13" EXACT [] xref: MIM:616300 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:0110094 name: short-rib thoracic dysplasia 8 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. (DO)" [PMID:23910462 "DO"] synonym: "DYNC2I1-related condition" BROAD [] synonym: "short rib polydactyly syndrome 6" EXACT [] synonym: "SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI" EXACT [] synonym: "SRPS6" EXACT [] synonym: "SRTD8" EXACT [] xref: MIM:615503 xref: MONDO:0014214 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110095 name: short-rib thoracic dysplasia 11 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. (DO)" [PMID:24183449 "DO"] synonym: "DYNC2I2-related condition" BROAD [] synonym: "SRTD11" EXACT [] xref: ICD10CM:Q77.2 xref: MIM:615633 xref: MONDO:0014287 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110096 name: short-rib thoracic dysplasia 14 with polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)" [PMID:26166481 "DO"] synonym: "KIAA0586-related condition" BROAD [] synonym: "SRTD14" EXACT [] xref: MIM:616546 xref: MONDO:0014688 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:0110097 name: short-rib thoracic dysplasia 9 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)" [PMID:22503633 "DO"] synonym: "conorenal dysplasia" EXACT [] synonym: "conorenal syndrome" EXACT [] synonym: "Mainzer-Saldino chondrodysplasia" EXACT [] synonym: "Mainzer-Saldino disease" EXACT [] synonym: "Mainzer-Saldino syndrome" EXACT [] synonym: "MZSDS" EXACT [] synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [] synonym: "short-rib thoracic dysplasia 9" EXACT [] synonym: "short-rib thoracic dysplasia without polydactyly" RELATED [] synonym: "SRTD9" EXACT [] xref: MESH:C535463 xref: MIM:266920 xref: MONDO:0009964 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110098 name: atopic dermatitis 2 def: "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. (DO)" [PMID:16912508 "DO"] synonym: "ATOD2" EXACT [] synonym: "atopic dermatitis, susceptibility to, 2" RELATED [] synonym: "FLG-RELATED CONDITION" BROAD [] synonym: "FLG-RELATED DISORDERS" BROAD [] xref: MESH:C565293 xref: MIM:605803 xref: MONDO:0011596 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110099 name: atopic dermatitis 3 def: "An atopic dermatitis associated with variation in the region 20p. (DO)" [PMID:11279517 "DO"] synonym: "ATOD3" EXACT [] synonym: "atopic dermatitis with asthma" EXACT [] xref: MESH:C565292 xref: MIM:605804 xref: MONDO:0011597 is_a: DOID:2841 ! asthma is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110100 name: atopic dermatitis 4 alt_id: MIM:605805 def: "An atopic dermatitis associated with variation in the region 17q25.3. (DO)" [PMID:11279517 "DO"] synonym: "ATOD4" EXACT [] xref: MESH:C565291 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110101 name: atopic dermatitis 5 alt_id: MIM:605844 def: "An atopic dermatitis associated with variation in the region 13q12-q14. (DO)" [PMID:11069631 "DO"] synonym: "ATOD5" EXACT [] xref: MESH:C565280 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110102 name: atopic dermatitis 6 alt_id: MIM:605845 def: "An atopic dermatitis associated with variation in the region 5q31-q33. (DO)" [PMID:11069631 "DO"] synonym: "ATOD6" EXACT [] xref: MESH:C565279 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110103 name: atopic dermatitis 7 alt_id: MIM:613064 def: "An atopic dermatitis associated with variation in the region 11q13.5. (DO)" [PMID:19349984 "DO"] synonym: "ATOD7" EXACT [] xref: MESH:C567796 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110104 name: atopic dermatitis 8 def: "An atopic dermatitis associated with variation in the region 4q22.1. (DO)" [PMID:19517137 "DO"] synonym: "ATOD8" EXACT [] xref: MIM:613518 is_a: DOID:3310 ! atopic dermatitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110105 name: atopic dermatitis 9 def: "An atopic dermatitis associated with variation in the region 3p24. (DO)" [PMID:19517137 "DO"] synonym: "ATOD9" EXACT [] xref: MIM:613519 is_a: DOID:3310 ! atopic dermatitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110106 name: atrial heart septal defect 1 def: "An atrial heart septal defect type 1 associated with variation in the region 5p. (DO)" [PMID:9610535 "DO"] synonym: "ASD1" EXACT [] synonym: "ASD I" NARROW [] synonym: "ASD II" NARROW [] synonym: "atrial septal defect 1" EXACT [] synonym: "Atrial Septal Defect, Primum Type" NARROW [] synonym: "Atrial Septal Defect, Secundum Type" NARROW [] xref: MESH:C566239 xref: MIM:108800 xref: MONDO:0007172 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110107 name: atrial heart septal defect 2 alt_id: MIM:607941 alt_id: RDO:0004221 def: "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. (DO)" [PMID:12845333 "DO"] synonym: "ASD2" EXACT [] synonym: "Atrial Septal Defect 2" EXACT [] xref: MESH:C538263 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110108 name: atrial heart septal defect 3 def: "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. (DO)" [PMID:15735645 "DO"] synonym: "ASD3" EXACT [] synonym: "atrial septal defect 3" EXACT [] xref: MESH:C563540 xref: MIM:614089 xref: MONDO:0013567 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:630 ! genetic disease [Term] id: DOID:0110109 name: atrial heart septal defect 4 def: "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. (DO)" [PMID:17668378 "DO"] synonym: "ASD4" EXACT [] synonym: "atrial septal defect 4" EXACT [] synonym: "TBX20-related condition" BROAD [] xref: MESH:C566963 xref: MIM:611363 xref: MONDO:0012654 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:630 ! genetic disease [Term] id: DOID:0110110 name: atrial heart septal defect 5 alt_id: MIM:612794 alt_id: RDO:0015609 def: "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)" [PMID:17947298 "DO"] synonym: "ASD5" EXACT [] synonym: "atrial septal defect 5" EXACT [] xref: MESH:C567561 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110111 name: atrial heart septal defect 6 def: "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. (DO)" [PMID:18830233 "DO"] synonym: "ASD6" EXACT [] synonym: "atrial septal defect 6" EXACT [] synonym: "TLL1-related condition" BROAD [] xref: MESH:C567764 xref: MIM:613087 xref: MONDO:0013123 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110112 name: atrial heart septal defect 7 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)" [PMID:9651244 "DO"] synonym: "ASD7" EXACT [] synonym: "ASD with or without atrioventricular conduction defects" EXACT [] synonym: "ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS" EXACT [] synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [] synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [] xref: MIM:108900 xref: ORDO:1479 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050820 ! atrioventricular block is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9006886 ! Atrial Septal Defect with Atrioventricular Conduction Defects [Term] id: DOID:0110113 name: atrial heart septal defect 8 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. (DO)" [PMID:16287139 "DO"] synonym: "ASD8" EXACT [] synonym: "atrial septal defect 8" EXACT [] synonym: "CITED2-RELATED CONDITION" BROAD [] xref: MIM:614433 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110114 name: atrial heart septal defect 9 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. (DO)" [PMID:20631719 "DO"] synonym: "ASD9" EXACT [] synonym: "atrial septal defect 9" EXACT [] xref: MIM:614475 xref: MONDO:0013770 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110115 name: autoimmune lymphoproliferative syndrome type 2A def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. (DO)" [PMID:16446975 "DO"] synonym: "ALPS2" EXACT [] synonym: "ALPS2A" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type II" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [] xref: MESH:C565833 xref: MIM:603909 xref: MONDO:0011383 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110116 name: autoimmune lymphoproliferative syndrome type 2B def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)" [PMID:12353035 "DO"] synonym: "ALPS2B" EXACT [] synonym: "ALPS with recurrent viral infections" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type 2B (ALPS2B)" EXACT [] synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT [] synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [] synonym: "caspase 8 deficiencies" EXACT [] synonym: "caspase 8 deficiency" EXACT [] synonym: "caspase 8 deficiency syndrome" EXACT [] synonym: "caspase eight deficiency state" EXACT [] synonym: "CEDS" EXACT [] xref: MIM:607271 xref: MONDO:0011804 xref: ORDO:275517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110117 name: autoimmune lymphoproliferative syndrome type 4 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. (DO)" [PMID:24240292 "DO"] synonym: "ALPS4" EXACT [] synonym: "ALPS type 4" EXACT [] synonym: "ALPS type IV" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [] synonym: "RALD" EXACT [] synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [] synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [] synonym: "RAS-associated autoimmune leukoproliferative disorder, somatic" NARROW [] xref: ICD10CM:D72.8 xref: MIM:614470 xref: MONDO:0013767 xref: ORDO:268114 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110118 name: Leber congenital amaurosis 16 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)" [PMID:21763485 "DO"] synonym: "LCA16" EXACT [] xref: MIM:614186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110119 name: autoimmune lymphoproliferative syndrome type 3 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. (DO)" [PMID:23319571 "DO", PMID:23666743 "DO"] synonym: "ALPS3" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [] synonym: "common variable immunodeficiency 9" RELATED [] synonym: "CVID9" RELATED [] xref: MIM:615559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12177 ! common variable immunodeficiency is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110120 name: Axenfeld-Rieger syndrome type 1 def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)" [PMID:8944018 "DO"] synonym: "RGS" EXACT [] synonym: "RIEG" EXACT [] synonym: "RIEG1" EXACT [] synonym: "Rieger syndrome type 1" EXACT [] xref: MIM:180500 is_a: DOID:0060321 ! umbilical hernia is_a: DOID:11722 ! myotonic dystrophy type 1 is_a: DOID:13714 ! anodontia is_a: DOID:14686 ! Axenfeld-Rieger syndrome is_a: DOID:3128 ! anus disease is_a: DOID:9001487 ! Facies is_a: DOID:9008606 ! Corneal Opacity is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0110121 name: Axenfeld-Rieger syndrome type 2 alt_id: MIM:601499 def: "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. (DO)" [PMID:8751862 "DO"] synonym: "RIEG2" EXACT [] synonym: "Rieger syndrome 2" EXACT [] synonym: "Rieger syndrome type 2" EXACT [] xref: ICD10CM:Q13.8 xref: MESH:C535680 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:13714 ! anodontia is_a: DOID:14686 ! Axenfeld-Rieger syndrome is_a: DOID:9002484 ! Maxillary Diseases [Term] id: DOID:0110122 name: Axenfeld-Rieger syndrome type 3 def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)" [PMID:9792859 "DO"] synonym: "anterior chamber cleavage syndrome" EXACT [] synonym: "anterior segment mesenchymal dysgenesis" EXACT [] synonym: "Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss" EXACT [] synonym: "FOXC1-RELATED DISORDER" BROAD [] synonym: "RIEG3" EXACT [] synonym: "Rieger syndrome type 3" EXACT [] xref: MIM:602482 xref: MONDO:0011233 is_a: DOID:14686 ! Axenfeld-Rieger syndrome [Term] id: DOID:0110123 name: Bardet-Biedl syndrome 1 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. (DO)" [PMID:20177705 "DO"] synonym: "BARDET-BIEDL SYNDROME 1/10, DIGENIC" BROAD [] synonym: "BARDET-BIEDL SYNDROME 1, MODIFIER OF" RELATED [] synonym: "Bardet-Biedl syndrome type 1" EXACT [] synonym: "BBS1" EXACT [] synonym: "BBS1-RELATED CILIOPATHY" EXACT [] synonym: "BBS1-RELATED CONDITION" EXACT [] synonym: "CCDC28B-RELATED DISORDER" RELATED [] xref: EFO:0009021 xref: GARD:820 xref: MESH:C537909 xref: MIM:209900 xref: MONDO:0008854 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110124 name: Bardet-Biedl syndrome 2 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. (DO)" [PMID:16823392 "DO"] synonym: "BARDET-BIEDL SYNDROME TYPE 2" EXACT [] synonym: "BBS2" EXACT [] synonym: "BBS2-RELATED CILIOPATHY" EXACT [] synonym: "BBS2-RELATED CONDITION" BROAD [] synonym: "BBS2-RELATED DISORDER" BROAD [] synonym: "BBS2-RELATED DISORDERS" BROAD [] xref: GARD:821 xref: MESH:C537910 xref: MIM:615981 xref: MONDO:0014432 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110125 name: Bardet-Biedl syndrome 3 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. (DO)" [PMID:15314642 "DO"] synonym: "BBS3" EXACT [] xref: GARD:822 xref: ICD10CM:Q87.89 xref: MESH:C537911 xref: MIM:600151 xref: MONDO:0010832 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110126 name: Bardet-Biedl syndrome 4 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. (DO)" [PMID:11381270 "DO"] synonym: "BBS4" EXACT [] synonym: "BBS4-related condition" EXACT [] xref: EFO:0009024 xref: GARD:823 xref: MESH:C537912 xref: MIM:615982 xref: MONDO:0014433 xref: OMIA:002045 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110127 name: Bardet-Biedl syndrome 5 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. (DO)" [PMID:15137946 "DO"] synonym: "BBS5" EXACT [] synonym: "BBS5-related condition" EXACT [] xref: EFO:0009025 xref: GARD:10204 xref: MIM:615983 xref: MONDO:0014434 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110128 name: Bardet-Biedl syndrome 6 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. (DO)" [PMID:10973238 "DO", PMID:10973251 "DO"] synonym: "BBS6" EXACT [] synonym: "MKKS-related condition" BROAD [] xref: GARD:10205 xref: MESH:C565738 xref: MIM:605231 xref: MONDO:0011523 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110129 name: Bardet-Biedl syndrome 7 def: "A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. (DO)" [PMID:12567324 "DO", PMID:19797195 "DO"] synonym: "BBS7" EXACT [] synonym: "BBS7-RELATED CILIOPATHY" EXACT [] synonym: "BBS7-related condition" EXACT [] xref: EFO:0009026 xref: GARD:10206 xref: MESH:C565916 xref: MIM:615984 xref: MONDO:0014435 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110130 name: Bardet-Biedl syndrome 8 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. (DO)" [PMID:14520415 "DO", PMID:16308660 "DO"] synonym: "BBS8" EXACT [] synonym: "TTC8-RELATED CONDITION" BROAD [] xref: GARD:10207 xref: MESH:C565917 xref: MIM:615985 xref: MONDO:0014436 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110131 name: Bardet-Biedl syndrome 9 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. (DO)" [PMID:16380913 "DO"] synonym: "BBS9" EXACT [] synonym: "BBS9-related ciliopathy" EXACT [] synonym: "BBS9-related condition" EXACT [] synonym: "RETINAL VASCULAR DYSTROPHY" NARROW [] xref: EFO:0009027 xref: GARD:10208 xref: MESH:C565918 xref: MIM:615986 xref: MONDO:0014437 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110132 name: Bardet-Biedl syndrome 10 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. (DO)" [PMID:16582908 "DO"] synonym: "BARDET-BIEDL SYNDROME 1/10, DIGENIC" BROAD [] synonym: "Bardet-Biedl syndrome type 10" EXACT [] synonym: "BBS10" EXACT [] synonym: "BBS10-related condition" EXACT [] xref: EFO:0009022 xref: GARD:10209 xref: MESH:C565919 xref: MIM:615987 xref: MONDO:0014438 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110133 name: Bardet-Biedl syndrome 11 alt_id: MIM:615988 def: "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. (DO)" [PMID:16606853 "DO"] synonym: "BBS11" EXACT [] synonym: "TRIM32-RELATED CONDITION" BROAD [] xref: GARD:10210 xref: MESH:C565920 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110134 name: Bardet-Biedl syndrome 12 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. (DO)" [PMID:17160889 "DO", PMID:19797195 "DO"] synonym: "Bardet-Biedl syndrome type 12" EXACT [] synonym: "BBS12" EXACT [] synonym: "BBS12-related ciliopathy" EXACT [] synonym: "BBS12-related condition" EXACT [] xref: EFO:0009023 xref: GARD:10211 xref: MESH:C565921 xref: MIM:615989 xref: MONDO:0014440 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110135 name: Bardet-Biedl syndrome 13 def: "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. (DO)" [PMID:18327255 "DO"] synonym: "BBS13" EXACT [] xref: MESH:C567140 xref: MIM:615990 xref: MONDO:0014441 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110136 name: Bardet-Biedl syndrome 14 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. (DO)" [PMID:18327255 "DO"] synonym: "Bardet-Biedl syndrome 14, modifier of" RELATED [] synonym: "BBS14" EXACT [] xref: MESH:C567141 xref: MIM:615991 xref: MONDO:0014442 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110137 name: Bardet-Biedl syndrome 15 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15. (DO)" [PMID:20671153 "DO"] synonym: "BBS15" EXACT [] synonym: "WDPCP-related condition" BROAD [] xref: MIM:615992 xref: MONDO:0014443 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110138 name: Bardet-Biedl syndrome 16 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. (DO)" [PMID:20835237 "DO", PMID:22626039 "DO"] synonym: "Bardet-Biedel syndrome 16" RELATED [] synonym: "BBS16" EXACT [] synonym: "SDCCAG8-RELATED CONDITION" BROAD [] xref: MIM:615993 xref: MONDO:0014444 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110139 name: Bardet-Biedl syndrome 17 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. (DO)" [PMID:22510444 "DO", PMID:23692385 "DO"] synonym: "BBS17" EXACT [] synonym: "LZTFL1-RELATED CONDITION" EXACT [] xref: MIM:615994 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110140 name: Bardet-Biedl syndrome 18 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. (DO)" [PMID:24026985 "DO"] synonym: "BBIP1-related condition" BROAD [] synonym: "BBS18" EXACT [] xref: MIM:615995 xref: MONDO:0014446 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110141 name: Bardet-Biedl syndrome 19 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. (DO)" [PMID:24488770 "DO"] synonym: "BBS19" EXACT [] synonym: "IFT27-RELATED CONDITION" EXACT [] xref: MIM:615996 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110142 name: Bartter disease type 1 alt_id: MIM:601678 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. (DO)" [PMID:9355073 "DO"] synonym: "BARTS1" EXACT [] synonym: "Bartter syndrome type 1" EXACT [] synonym: "Bartter syndrome type 1 antenatal" EXACT [] synonym: "Hyperprostaglandin E syndrome 1" EXACT [] synonym: "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL" EXACT [] synonym: "Hypokalemic alkalosis with hypercalciuria, antenatal" EXACT [] synonym: "SLC12A1-RELATED CONDITION" EXACT [] xref: MESH:C537652 xref: NCI:C178412 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110143 name: Bartter disease type 2 alt_id: MIM:241200 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. (DO)" [PMID:9326936 "DO"] synonym: "BARTS2" EXACT [] synonym: "Bartter syndrome type 2" EXACT [] synonym: "Bartter syndrome type 2 antenatal" EXACT [] synonym: "Hyperprostaglandin E syndrome 2" EXACT [] synonym: "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL" EXACT [] synonym: "KCNJ1-RELATED CONDITION" EXACT [] xref: ICD10CM:E26.8 xref: MESH:C537651 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110144 name: Bartter disease type 3 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. (DO)" [PMID:9326936 "DO"] synonym: "BARTS3" EXACT [] synonym: "Bartter syndrome, classic" EXACT [] synonym: "Bartter syndrome, type 3" EXACT [] xref: GARD:9659 xref: MESH:C537653 xref: MIM:607364 xref: MONDO:0011822 xref: NCI:C222346 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110145 name: Bartter disease type 4A alt_id: MIM:602522 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. (DO)" [PMID:11687798 "DO"] synonym: "BARTS4A" EXACT [] synonym: "BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS" NARROW [] synonym: "Bartter syndrome type 4A" EXACT [] synonym: "BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS" EXACT [] synonym: "BSND" EXACT [] synonym: "BSND-RELATED CONDITION" EXACT [] synonym: "BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION" NARROW [] xref: MESH:C566530 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110146 name: Bartter disease type 4b def: "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. (DO)" [PMID:15044642 "DO"] synonym: "BARTS4B" EXACT [] synonym: "Bartter Syndrome, Infantile, with Sensorineural Deafness" EXACT [] synonym: "Bartter Syndrome, Type 4B" EXACT [] synonym: "Bartter syndrome, type 4b, digenic" EXACT [] synonym: "BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS" EXACT [] xref: MESH:C567762 xref: MIM:613090 xref: MONDO:0000909 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110147 name: Bartter disease type 5 def: "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. (DO)" [PMID:27120771 "DO"] synonym: "BARTS5" EXACT [] synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [] synonym: "MAGED2-RELATED CONDITION" EXACT [] synonym: "transient antenatal Bartter syndrome-5" EXACT [] xref: MIM:300971 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110148 name: Charcot-Marie-Tooth disease type 1A def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)" [PMID:1677316 "DO", PMID:21326314 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths" EXACT [] synonym: "Charcot Marie Tooth disease, type IA" EXACT [] synonym: "Charcot Marie Tooth neuropathy, type 1A" EXACT [] synonym: "CMT1A" EXACT [] synonym: "hereditary motor and sensory neuropathy 1A" EXACT [] synonym: "hereditary motor and sensory neuropathy IA" EXACT [] synonym: "HMSN 1A" EXACT [] synonym: "HMSN1A" EXACT [] synonym: "HMSN IA" EXACT [] synonym: "microduplication 17p12" EXACT [] xref: GARD:1245 xref: MIM:118220 xref: MONDO:0007309 xref: NCI:C75468 xref: ORDO:101081 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0110149 name: Charcot-Marie-Tooth disease type 1F def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)" [PMID:12566280 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 1F" EXACT [] synonym: "CMT 1F" EXACT [] synonym: "CMT1F" EXACT [] xref: MESH:C537987 xref: MIM:607734 xref: MONDO:0011902 xref: ORDO:101085 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110150 name: Charcot-Marie-Tooth disease type 1D def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). (DO)" [PMID:9537424 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, Type 1D" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 1D" EXACT [] synonym: "CMT1D" EXACT [] synonym: "hereditary motor and sensory neuropathy 1D" EXACT [] synonym: "HMSN 1D" EXACT [] synonym: "HMSN1D" EXACT [] synonym: "HMSN ID" EXACT [] synonym: "HMSNID" EXACT [] xref: MESH:C537985 xref: MIM:607678 xref: MONDO:0011890 xref: ORDO:101084 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110151 name: Charcot-Marie-Tooth disease type 1C alt_id: MIM:601098 def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)" [PMID:12525712 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, TYPE IC" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 1C" EXACT [] synonym: "CMT1C" EXACT [] synonym: "CMT, slow nerve conduction type C" EXACT [] synonym: "hereditary motor and sensory neuropathy type 1C" EXACT [] synonym: "hereditary motor and sensory neuropathy type IC" EXACT [] synonym: "HMSN1C" EXACT [] synonym: "HMSN IC" EXACT [] synonym: "HMSNIC" EXACT [] synonym: "LITAF-RELATED CONDITION" EXACT [] xref: MESH:C537984 xref: ORDO:101083 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110152 name: Charcot-Marie-Tooth disease type 1B def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). (DO)" [PMID:7693129 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" EXACT [] synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 1B, with focally folded myelin sheaths" EXACT [] synonym: "Charcot-Marie-Tooth disease, type IB" EXACT [] synonym: "Charcot Marie Tooth neuropathy, type 1B" EXACT [] synonym: "CMT1B" EXACT [] synonym: "hereditary motor and sensory neuropathy IB" EXACT [] synonym: "HMSN 1B" EXACT [] synonym: "HMSN1B" EXACT [] synonym: "HMSN IB" EXACT [] xref: MIM:118200 xref: NCI:C118782 xref: ORDO:101082 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0110153 name: Charcot-Marie-Tooth disease type 1E alt_id: MESH:C538078 alt_id: MESH:C566136 alt_id: MIM:118300 alt_id: MIM:214370 def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). (DO)" [PMID:10330345 "DO"] synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [] synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating type 1E" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" EXACT [] synonym: "CMT1E" EXACT [] synonym: "deafness with Charcot-Marie-Tooth disease" EXACT [] synonym: "hereditary motor and sensory neuropathy with deafness, mental retardation, and absent sensory large myelinated fibers" EXACT [] xref: GARD:9190 xref: MESH:C537986 xref: ORDO:90658 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0110154 name: Charcot-Marie-Tooth disease type 2A1 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. (DO)" [PMID:11389829 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [] synonym: "CMT2A1" EXACT [] synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [] synonym: "HMSN2A1" EXACT [] synonym: "HMSN IIA1" EXACT [] synonym: "KIF1B-related condition" BROAD [] xref: MESH:C566138 xref: MIM:118210 xref: MONDO:0007308 xref: ORDO:99946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008563 ! Charcot-Marie-Tooth Disease, Type 2A [Term] id: DOID:0110155 name: Charcot-Marie-Tooth disease type 2A2A def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)" [PMID:15064763 "DO", PMID:19889647 "DO"] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2A2A" EXACT [] synonym: "CMT2A2A" EXACT [] xref: MIM:609260 xref: NCI:C150646 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004551 ! Charcot-Marie-Tooth Disease Type 2A2 [Term] id: DOID:0110156 name: Charcot-Marie-Tooth disease type 2B1 alt_id: MIM:605588 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. (DO)" [PMID:11799477 "DO"] synonym: "autosomal recessive axonal CMT4C1" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 2b1" EXACT [] synonym: "CMT2B1" EXACT [] xref: ICD10CM:G60.0 xref: MESH:C537990 xref: ORDO:98856 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:0110157 name: Charcot-Marie-Tooth disease type 2J alt_id: MIM:607736 def: "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [PMID:10071056 "DO"] synonym: "axonal Charcot-Marie-Tooth disease type 2J" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [] synonym: "CMT 2J" EXACT [] synonym: "CMT2J" EXACT [] xref: MESH:C535417 xref: ORDO:99943 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0110158 name: Charcot-Marie-Tooth disease type 2I def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [PMID:10071056 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2I" EXACT [] synonym: "CMT 2I" EXACT [] synonym: "CMT2I" EXACT [] xref: MESH:C535416 xref: MIM:607677 xref: MONDO:0011889 xref: ORDO:99942 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110159 name: Charcot-Marie-Tooth disease type 2B def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. (DO)" [PMID:12545426 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 2B" EXACT [] synonym: "CMT 2B" EXACT [] synonym: "CMT2B" EXACT [] synonym: "Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" EXACT [] synonym: "hereditary motor and sensory nueropathy 2B" EXACT [] synonym: "hereditary motor and sensory nueropathy IIB" EXACT [] synonym: "HEREDITARY SODIUM CHANNELOPATHY-RELATED SMALL FIBERS NEUROPATHY" BROAD [] synonym: "HMSN2B" EXACT [] synonym: "HMSN IIB" EXACT [] synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" EXACT [] xref: GARD:9192 xref: MESH:C537989 xref: MIM:600882 xref: MONDO:0010949 xref: ORDO:99936 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110160 name: Charcot-Marie-Tooth disease axonal type 2T def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. (DO)" [PMID:26991897 "DO"] synonym: "AR-CMT2T" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE TYPE 2T" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T" EXACT [] synonym: "CMT2T" EXACT [] synonym: "MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2" EXACT [] synonym: "MME-related condition" BROAD [] xref: EFO:0009162 xref: MIM:617017 xref: MONDO:0014866 xref: ORDO:443950 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110161 name: Charcot-Marie-Tooth disease type 2R def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (DO)" [PMID:23562820 "DO", PMID:25893792 "DO"] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2R" EXACT [] synonym: "CMT2R" EXACT [] xref: MIM:615490 xref: MONDO:0014208 xref: ORDO:397968 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110162 name: Charcot-Marie-Tooth disease, axonal type 2W def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. (DO)" [PMID:22930593 "DO"] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2W" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2W" EXACT [] synonym: "CMT2W" EXACT [] xref: MIM:616625 xref: MONDO:0014711 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110163 name: Charcot-Marie-Tooth disease axonal type 2F def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). (DO)" [PMID:15122254 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2F" EXACT [] synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2F" EXACT [] synonym: "CMT 2F" EXACT [] synonym: "CMT2F" EXACT [] synonym: "HSPB1-related disorder" BROAD [] xref: MESH:C535413 xref: MIM:606595 xref: MONDO:0011687 xref: ORDO:99940 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110164 name: Charcot-Marie-Tooth disease type 2D def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. (DO)" [PMID:12690580 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2D" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2D" EXACT [] synonym: "CMT2D" EXACT [] xref: MESH:C537993 xref: MIM:601472 xref: MONDO:0011091 xref: NCI:C122659 xref: ORDO:99938 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110165 name: Charcot-Marie-Tooth disease type 2E alt_id: MIM:607684 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (DO)" [PMID:10841809 "DO", PMID:17620486 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2E" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [] synonym: "CMT 2E" EXACT [] synonym: "CMT2E" EXACT [] xref: MESH:C537994 xref: NCI:C134953 xref: ORDO:99939 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110166 name: Charcot-Marie-Tooth disease axonal type 2H alt_id: MIM:607731 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. (DO)" [PMID:11166163 "DO"] synonym: "AR-CMT2C" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [] synonym: "autosomal recessive axonal CMT4C2" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [] synonym: "CMT2H" EXACT [] xref: MESH:C535415 xref: ORDO:101102 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110167 name: Charcot-Marie-Tooth disease axonal type 2K def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. (DO)" [PMID:12707075 "DO"] synonym: "ARCMT2K" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [] synonym: "autosomal recessive axonal CMT4C4" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k" EXACT [] synonym: "CMT 2K" EXACT [] synonym: "CMT2K" EXACT [] xref: MESH:C535418 xref: MESH:C564325 xref: MIM:607831 xref: MONDO:0011916 xref: NCI:C133886 xref: ORDO:101097 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110168 name: Charcot-Marie-Tooth disease type 2Y def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. (DO)" [PMID:25125609 "DO"] synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2Y" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2Y" EXACT [] synonym: "CMT2 due to VCP mutation" EXACT [] synonym: "CMT2Y" EXACT [] xref: MIM:616687 xref: MONDO:0014735 xref: NCI:C168974 xref: ORDO:435387 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110169 name: Charcot-Marie-Tooth disease axonal type 2P def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)" [PMID:20865121 "DO"] synonym: "Charcot-Marie-Tooth disease, type 2G" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 2P" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2G" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2P" EXACT [] synonym: "CMT 2G" EXACT [] synonym: "CMT2G" EXACT [] synonym: "CMT2P" EXACT [] xref: GARD:12435 xref: MIM:614436 xref: MONDO:0013753 xref: ORDO:300319 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110170 name: Charcot-Marie-Tooth disease axonal type 2Q def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. (DO)" [PMID:23141294 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2Q" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" EXACT [] synonym: "CMT2Q" EXACT [] synonym: "DHTKD1-RELATED CONDITION" BROAD [] xref: MIM:615025 xref: ORDO:329258 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110171 name: Charcot-Marie-Tooth disease axonal type 2S def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)" [PMID:25439726 "DO"] synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2S" EXACT [] synonym: "CMT2S" EXACT [] synonym: "IGHMBP2-related condition" BROAD [] xref: MIM:616155 xref: MONDO:0014511 xref: ORDO:443073 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110173 name: Charcot-Marie-Tooth disease axonal type 2U def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. (DO)" [PMID:23729695 "DO"] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U" EXACT [] synonym: "CMT2U" EXACT [] xref: MIM:616280 xref: ORDO:397735 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110174 name: Charcot-Marie-Tooth disease axonal type 2L def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. (DO)" [PMID:15565283 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2L" EXACT [] synonym: "axonal Charcot-Marie-Tooth neuropathy, type 2L" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 2L" EXACT [] synonym: "CMT2L" EXACT [] xref: MIM:608673 xref: MONDO:0012096 xref: ORDO:99945 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110175 name: Charcot-Marie-Tooth disease axonal type 2O alt_id: RDO:9000222 alt_id: RDO:9002957 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [PMID:21820100 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O" EXACT [] synonym: "CMT2O" EXACT [] xref: MIM:614228 xref: ORDO:284232 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110176 name: Charcot-Marie-Tooth disease axonal type 2X def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. (DO)" [PMID:26556829 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 2X" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X" EXACT [] synonym: "CMT2X" EXACT [] xref: EFO:1001983 xref: MIM:616668 xref: MONDO:0014726 xref: ORDO:466775 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110177 name: Charcot-Marie-Tooth disease axonal type 2N alt_id: MIM:613287 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. (DO)" [PMID:20045102 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2N" EXACT [] synonym: "axonal Charcot-Marie-Tooth neuropathy, type 2N" EXACT [] synonym: "CMT2N" EXACT [] xref: MESH:C567653 xref: ORDO:228174 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110178 name: Charcot-Marie-Tooth disease axonal type 2V def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. (DO)" [PMID:25818867 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2V" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2" BROAD [] synonym: "Charcot-Marie-Tooth neuropathy, type 2V" EXACT [] synonym: "CMT2V" EXACT [] xref: MIM:616491 xref: MONDO:0014665 xref: ORDO:447964 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110179 name: Charcot-Marie-Tooth disease type 2B2 alt_id: MIM:605589 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)" [PMID:19290556 "DO"] synonym: "ARCMT2B" EXACT [] synonym: "AR-CMT2B2" EXACT [] synonym: "Autosomal recessive axonal CMT4C3" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" EXACT [] synonym: "CMT 2B2" EXACT [] synonym: "CMT2B2" EXACT [] xref: MESH:C537991 xref: ORDO:101101 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110180 name: Charcot-Marie-Tooth disease axonal type 2CC def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. (DO)" [PMID:27040688 "DO"] synonym: "Charcot-Marie-Tooth neuropathy, type 2CC" EXACT [] synonym: "CMT2CC" EXACT [] synonym: "NEFH-related condition" BROAD [] xref: MIM:616924 xref: MONDO:0014836 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110181 name: Charcot-Marie-Tooth disease axonal type 2Z def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. (DO)" [PMID:26497905 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z" EXACT [] synonym: "CMT2Z" EXACT [] synonym: "MORC2-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] xref: MIM:616688 xref: ORDO:466768 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110182 name: Charcot-Marie-Tooth disease axonal type 2C def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. (DO)" [PMID:20037588 "DO"] synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2C" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2C" EXACT [] synonym: "CMT2C" EXACT [] synonym: "hereditary motor and sensory neuropathy 2 C" EXACT [] synonym: "hereditary motor and sensory neuropathy, type IIC" EXACT [] synonym: "HMSN2C" EXACT [] synonym: "HMSN IIC" EXACT [] xref: MESH:C537992 xref: MESH:C565261 xref: MIM:606071 xref: MONDO:0011633 xref: ORDO:99937 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110183 name: Charcot-Marie-Tooth disease type 4C def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. (DO)" [PMID:14574644 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4C" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, type 4C" EXACT [] synonym: "CMT 4C" EXACT [] synonym: "CMT4C" EXACT [] synonym: "SH3TC2-RELATED DISORDER" BROAD [] xref: MESH:C535423 xref: MIM:601596 xref: MONDO:0011113 xref: NCI:C129864 xref: ORDO:99949 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110184 name: Charcot-Marie-Tooth disease type 4J def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. (DO)" [PMID:17572665 "DO"] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4J" EXACT [] synonym: "CMT4J" EXACT [] xref: MESH:C566984 xref: MIM:611228 xref: MONDO:0012640 xref: NCI:C134954 xref: ORDO:139515 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110185 name: Charcot-Marie-Tooth disease type 4A def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)" [PMID:11743579 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [] synonym: "CMT4A" EXACT [] xref: MESH:C535419 xref: MIM:214400 xref: MONDO:0008961 xref: ORDO:99948 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110186 name: Charcot-Marie-Tooth disease type 4D def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. (DO)" [PMID:10831399 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 4D" EXACT [] synonym: "CMT4D" EXACT [] synonym: "hereditary motor and sensory neuropathy, LOM type" EXACT [] synonym: "HMSN4D" EXACT [] synonym: "HMSNL" EXACT [] synonym: "HMSN-LOM" EXACT [] synonym: "HMSN LOM type" EXACT [] synonym: "polyneuropathy, NDRG1-related" RELATED [] xref: MESH:C535716 xref: MIM:601455 xref: MONDO:0011085 xref: OMIA:002120 xref: ORDO:99950 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10582 ! Refsum disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110187 name: Charcot-Marie-Tooth disease type 4K def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. (DO)" [PMID:24027061 "DO"] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4K" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4K" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K" EXACT [] synonym: "CMT4K" EXACT [] synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [] synonym: "SURF1-related CMT4" EXACT [] synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [] xref: MIM:616684 xref: MONDO:0014733 xref: ORDO:391351 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110188 name: Leber congenital amaurosis 14 alt_id: MIM:613341 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. (DO)" [PMID:17011878 "DO"] synonym: "early-onset severe retinal dystrophy, LRAT-related" NARROW [] synonym: "juvenile retinitis pigmentosa, LRAT-related" NARROW [] synonym: "LCA14" EXACT [] synonym: "LRAT-RELATED CONDITION" EXACT [] xref: MESH:C567636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110189 name: Leber congenital amaurosis 15 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. (DO)" [PMID:15024725 "DO"] synonym: "juvenile retinitis pigmentosa, TULP1-related" NARROW [] synonym: "LCA15" EXACT [] synonym: "TULP1-RELATED CONDITION" BROAD [] xref: MIM:613843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110190 name: Charcot-Marie-Tooth disease type 4B2 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. (DO)" [PMID:12554688 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma" EXACT [] synonym: "Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4B2, with early-onset glaucoma" EXACT [] synonym: "CMT4B2" EXACT [] xref: GARD:9200 xref: MESH:C535421 xref: MESH:C535422 xref: MESH:C565761 xref: MIM:604563 xref: MONDO:0011475 xref: ORDO:99956 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007741 ! Early-Onset Glaucoma [Term] id: DOID:0110191 name: Charcot-Marie-Tooth disease type 4B1 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). (DO)" [PMID:10802647 "DO"] synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 4B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" EXACT [] synonym: "CMT4B" EXACT [] synonym: "CMT4B1" EXACT [] xref: MESH:C535420 xref: MIM:601382 xref: MONDO:0011066 xref: ORDO:99955 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110192 name: Charcot-Marie-Tooth disease type 4H def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (DO)" [PMID:15744041 "DO", PMID:17564959 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4H" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 4H" EXACT [] synonym: "CMT4H" EXACT [] synonym: "FGD4-RELATED CONDITION" EXACT [] xref: MESH:C563740 xref: MIM:609311 xref: MONDO:0012250 xref: ORDO:99954 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110193 name: Charcot-Marie-Tooth disease type 4F def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. (DO)" [PMID:11157804 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" EXACT [] synonym: "CMT4F" EXACT [] synonym: "PRX-RELATED CONDITION" BROAD [] xref: MIM:614895 xref: MONDO:0013959 xref: ORDO:99952 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110194 name: Charcot-Marie-Tooth disease type 4B3 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. (DO)" [PMID:23749797 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4B3" EXACT [] synonym: "CMT4B3" EXACT [] synonym: "SBF1-RELATED CONDITION" EXACT [] xref: MIM:615284 xref: MONDO:0014117 xref: NCI:C190871 xref: ORDO:363981 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110195 name: Charcot-Marie-Tooth disease type 4E def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (DO)" [PMID:15184631 "DO", PMID:9537424 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4E" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 4e" EXACT [] synonym: "CHN" EXACT [] synonym: "CMT4E" EXACT [] synonym: "congenital hypomyelinating neuropathy" BROAD [] synonym: "congenital hypomyelinating neuropathy (CHN)" BROAD [] synonym: "congenital hypomyelinating neuropathy 1" EXACT [] synonym: "congenital hypomyelinating neuropathy, autosomal dominant" NARROW [] synonym: "Hypomyelination, severe congenital" EXACT [] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C535301 xref: MIM:605253 xref: MONDO:0011527 xref: ORDO:99951 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy [Term] id: DOID:0110196 name: Charcot-Marie-Tooth disease type 4G def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. (DO)" [PMID:19536174 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4G" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [] synonym: "CMT4G" EXACT [] synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [] synonym: "HMSNR" EXACT [] xref: MESH:C535813 xref: MIM:605285 xref: MONDO:0011534 xref: ORDO:99953 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110197 name: Charcot-Marie-Tooth disease dominant intermediate B def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)" [PMID:15731758 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" NARROW [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" NARROW [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA" NARROW [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M" NARROW [] synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA" NARROW [] synonym: "CMT2M" NARROW [] synonym: "CMTDI1" EXACT [] synonym: "CMTDIB" EXACT [] synonym: "DI-CMTB" EXACT [] synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" EXACT [] xref: MESH:C564703 xref: MIM:606482 xref: MONDO:0011674 xref: ORDO:100044 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110198 name: Charcot-Marie-Tooth disease recessive intermediate C def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. (DO)" [PMID:23777631 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C" EXACT [] synonym: "CMTRIC" EXACT [] synonym: "PLEKHG5-RELATED CONDITION" BROAD [] synonym: "RI-CMTC" EXACT [] synonym: "RI-CMT type C" EXACT [] xref: MIM:615376 xref: ORDO:369867 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110199 name: Charcot-Marie-Tooth disease dominant intermediate C alt_id: MIM:608323 def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. (DO)" [PMID:16429158 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, dominant intermediate C" EXACT [] synonym: "CMTDIC" EXACT [] synonym: "DI-CMTC" EXACT [] synonym: "YARS1-RELATED DISORDER" BROAD [] xref: MESH:C564257 xref: ORDO:100045 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110200 name: Charcot-Marie-Tooth disease dominant intermediate D def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [PMID:10406984 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D" EXACT [] synonym: "CMTDID" EXACT [] synonym: "DI-CMTD" EXACT [] xref: MESH:C564333 xref: MIM:607791 xref: MONDO:0011909 xref: ORDO:100046 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110201 name: Charcot-Marie-Tooth disease recessive intermediate A def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)" [PMID:12499475 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, recessive intermediate A" EXACT [] synonym: "CMTRIA" EXACT [] synonym: "RI-CMTA" EXACT [] xref: MESH:C564256 xref: MIM:608340 xref: MONDO:0012014 xref: ORDO:217055 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110202 name: Charcot-Marie-Tooth disease dominant intermediate A alt_id: MIM:606483 alt_id: MIM:620378 def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. (DO)" [PMID:11533914 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, type 2GG" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2GG" EXACT [] synonym: "CMT2GG" EXACT [] synonym: "CMTDIA" EXACT [] synonym: "DI-CMTA" EXACT [] synonym: "GBF1-RELATED DISORDER" EXACT [] xref: MESH:C564702 xref: MONDO:0011675 xref: ORDO:100043 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110203 name: Charcot-Marie-Tooth disease recessive intermediate D def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. (DO)" [PMID:25152455 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease D" EXACT [] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [] synonym: "CMTRID" EXACT [] synonym: "COX6A1-RELATED CONDITION" EXACT [] synonym: "RI-CMT type D" EXACT [] xref: MIM:616039 xref: ORDO:435998 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110204 name: Charcot-Marie-Tooth disease recessive intermediate B def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. (DO)" [PMID:20920668 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [] synonym: "CMTRIB" EXACT [] synonym: "RI-CMTB" EXACT [] xref: MIM:613641 xref: ORDO:254334 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110205 name: Charcot-Marie-Tooth disease dominant intermediate E def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. (DO)" [PMID:22187985 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [] synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS" EXACT [] synonym: "CMTDIE" EXACT [] synonym: "INF2-RELATED CONDITION" BROAD [] xref: MIM:614455 xref: ORDO:93114 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110206 name: Charcot-Marie-Tooth disease dominant intermediate F def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. (DO)" [PMID:23434117 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [] synonym: "CMTDIF" EXACT [] synonym: "GNB4-RELATED CONDITION" EXACT [] xref: MIM:615185 xref: ORDO:352670 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110207 name: Charcot-Marie-Tooth disease X-linked dominant 6 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. (DO)" [PMID:23297365 "DO"] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6" EXACT [] synonym: "CMT6X" EXACT [] synonym: "CMTX6" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [] xref: MIM:300905 xref: ORDO:352675 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0110208 name: Charcot-Marie-Tooth disease X-linked recessive 2 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. (DO)" [PMID:1557086 "DO"] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" EXACT [] synonym: "CMTX2" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [] xref: MESH:C535302 xref: MIM:302801 xref: MONDO:0010550 xref: ORDO:101076 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110209 name: Charcot-Marie-Tooth disease X-linked dominant 1 alt_id: DOID:9002021 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. (DO)" [PMID:8266101 "DO"] synonym: "Charcot-Marie-Tooth Disease, X-Linked, 1" EXACT [] synonym: "CHARCOT-MARIE-TOOTH-LIKE DISEASE" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, X-Linked, 1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [] synonym: "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" NARROW [] synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" EXACT [] synonym: "CMT1X" EXACT [] synonym: "CMT2" EXACT [] synonym: "CMTX" EXACT [] synonym: "CMTX 1" EXACT [] synonym: "Cmtx1" EXACT [] synonym: "GJB1-RELATED CONDITION" EXACT [] synonym: "GJB1-RELATED DISORDER" EXACT [] synonym: "Hereditary motor and sensory neuropathy, X-linked" EXACT [] synonym: "HMSN, X-linked" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [] xref: MESH:C535919 xref: MESH:C564446 xref: MIM:302800 xref: ORDO:101075 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0110210 name: Charcot-Marie-Tooth disease X-linked recessive 5 alt_id: MIM:311070 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. (DO)" [PMID:15955956 "DO"] synonym: "CMT5X" EXACT [] synonym: "CMTX5" EXACT [] synonym: "Familial opticoacoustic nerve degeneration and polyneuropathy" EXACT [] synonym: "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" EXACT [] synonym: "Optic atrophy, neural deafness, and distal neurogenic amyotrophy" EXACT [] synonym: "Optic atrophy, polyneuropathy, and deafness" EXACT [] synonym: "Optic Atrophy Polyneuropathy Deafness" EXACT [] synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [] synonym: "Rosenberg Chutorian syndrome" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [] synonym: "X-linked recessive Charcot-Marie-Tooth neuropathy 5" EXACT [] xref: MESH:C537129 xref: ORDO:99014 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0060140 ! cortical deafness is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:913 ! atrophic muscular disease [Term] id: DOID:0110211 name: Charcot-Marie-Tooth disease X-linked recessive 3 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. (DO)" [PMID:1557086 "DO", PMID:1674639 "DO"] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive 3" EXACT [] synonym: "CMT3X" EXACT [] synonym: "CMTX3" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [] xref: MESH:C535303 xref: MIM:302802 xref: MONDO:0010551 xref: ORDO:101077 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110212 name: Charcot-Marie-Tooth disease X-linked recessive 4 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)" [PMID:23217327 "DO"] synonym: "axonal motor-sensory neuropathy with deafness and mental retardation" EXACT [] synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT [] synonym: "Charcot-Marie-Tooth disease X-linked recessive, type 4" EXACT [] synonym: "CMT4X" EXACT [] synonym: "CMTX4" EXACT [] synonym: "Cowchock syndrome" EXACT [] synonym: "COWCK" EXACT [] synonym: "NADMR" EXACT [] synonym: "NAMSD" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [] synonym: "X-linked recessive Charcot-Marie-Tooth disease 4 with or without cerebellar ataxia" EXACT [] xref: MESH:C536450 xref: MIM:310490 xref: MONDO:0010689 xref: ORDO:101078 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0110213 name: isolated cleft palate alt_id: RDO:0015182 def: "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. (DO)" [PMID:7143384 "DO"] synonym: "isolated cleft palate, and mental retardation" EXACT [] xref: ICD10CM:Q35.1 xref: ICD10CM:Q35.5 xref: ICD10CM:Q35.7 xref: ICD10CM:Q35.9 xref: MESH:C566991 xref: ORDO:2014 is_a: DOID:1059 ! intellectual disability is_a: DOID:674 ! cleft palate [Term] id: DOID:0110214 name: cleft soft palate alt_id: MIM:119570 def: "A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. (DO)" [ORDO:99772 "DO"] synonym: "cleft velum" EXACT [] synonym: "cleft velum palatinum" EXACT [] xref: ICD10CM:Q35.3 xref: MESH:C562950 xref: ORDO:99772 is_a: DOID:674 ! cleft palate [Term] id: DOID:0110215 name: Leber congenital amaurosis 5 alt_id: MIM:604537 def: "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)" [PMID:17546029 "DO"] synonym: "LCA5" EXACT [] synonym: "LCA5-RELATED CONDITION" EXACT [] synonym: "LCA5-RELATED RETINOPATHY" EXACT [] synonym: "Leber congenital amaurosis, type 5" EXACT [] xref: MESH:C536602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110216 name: Leber congenital amaurosis 11 alt_id: MIM:613837 alt_id: RDO:0013196 def: "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. (DO)" [PMID:16384941 "DO"] synonym: "IMPDH1-RELATED CONDITION" BROAD [] synonym: "LCA11" EXACT [] xref: MESH:C564140 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110217 name: Leber congenital amaurosis 17 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [PMID:23307924 "DO"] synonym: "LCA17" EXACT [] xref: MIM:615360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110218 name: Brugada syndrome 1 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. (DO)" [PMID:9521325 "DO"] synonym: "BRGDA1" EXACT [] synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" EXACT [] xref: MIM:601144 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:0110219 name: Brugada syndrome 2 alt_id: MIM:611777 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. (DO)" [PMID:17967977 "DO"] synonym: "BRGDA2" EXACT [] synonym: "GPD1L-RELATED CONDITION" EXACT [] xref: MESH:C567087 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110220 name: Brugada syndrome 3 alt_id: MIM:611875 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. (DO)" [PMID:17224476 "DO"] synonym: "BRGDA3" EXACT [] synonym: "CACNA1C-RELATED DISORDER" BROAD [] xref: GARD:10361 xref: MESH:C567509 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110221 name: Brugada syndrome 4 alt_id: MIM:611876 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. (DO)" [PMID:17224476 "DO"] synonym: "BRGDA4" EXACT [] synonym: "CACNB2-RELATED CONDITION" EXACT [] xref: GARD:10362 xref: MESH:C567508 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110222 name: Brugada syndrome 5 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)" [PMID:18464934 "DO"] synonym: "BRGDA5" EXACT [] synonym: "CARDIAC CONDUCTION DEFECT, NONSPECIFIC" NARROW [] xref: MESH:C567556 xref: MIM:612838 xref: MONDO:0013015 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110223 name: Brugada syndrome 6 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. (DO)" [PMID:19122847 "DO"] synonym: "BRGDA6" EXACT [] synonym: "KCNE3-related condition" BROAD [] xref: ICD10CM:I49.8 xref: MESH:C567735 xref: MIM:613119 xref: MONDO:0013145 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110224 name: Brugada syndrome 7 alt_id: DOID:9001394 alt_id: MIM:613120 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. (DO)" [PMID:20031595 "DO"] synonym: "ATFB16" RELATED [] synonym: "atrial fibrillation 16" RELATED [] synonym: "BRGDA7" EXACT [] synonym: "familial atrial fibrillation 16" RELATED [] synonym: "SCN3B-RELATED CONDITION" EXACT [] xref: MESH:C567734 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050650 ! familial atrial fibrillation is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110225 name: Brugada syndrome 8 alt_id: MIM:613123 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. (DO)" [PMID:19165230 "DO"] synonym: "BRGDA8" EXACT [] xref: MESH:C567732 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110226 name: Brugada syndrome 9 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. (DO)" [PMID:21349352 "DO"] synonym: "BRGDA9" EXACT [] synonym: "KCND3-RELATED DISORDER" BROAD [] xref: MIM:616399 xref: MONDO:0014621 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110227 name: cataract 32 multiple types alt_id: MIM:115650 def: "A cataract that has_material_basis_in mutation in the region 14q22-q23. (DO)" [PMID:6694185 "DO"] synonym: "anterior polar cataract" EXACT [] synonym: "anterior polar cataract 1" EXACT [] synonym: "anterior polar cataract 5" EXACT [] synonym: "anterior polar cataract, dominant" EXACT [] synonym: "CAP" EXACT [] synonym: "CTAA1" EXACT [] synonym: "CTPP5" EXACT [] synonym: "CTRCT32" EXACT [] synonym: "posterior polar cataract 5" NARROW [] xref: MESH:C538282 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110228 name: cataract 8 multiple types alt_id: MIM:115665 def: "A cataract that has_material_basis_in variation in the region 1pter-p36.13. (DO)" [PMID:7607651 "DO"] synonym: "Cataract Congenital Volkmann Type" EXACT [] synonym: "CCV" EXACT [] synonym: "CTRCT8" EXACT [] xref: MESH:C538285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110229 name: cataract 6 multiple types alt_id: MIM:116600 def: "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)" [PMID:19005574 "DO"] synonym: "age-cortical cataract 2" EXACT [] synonym: "age-related cortical cataract" BROAD [] synonym: "age-related cortical cataract 2" EXACT [] synonym: "age-related cortical cataract 6" EXACT [] synonym: "ARCC2" EXACT [] synonym: "CTPP1" EXACT [] synonym: "CTRCT6" EXACT [] synonym: "EPHA2-RELATED CONDITION" EXACT [] synonym: "posterior polar cataract 1" EXACT [] xref: MESH:C535339 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110230 name: cataract 34 multiple types def: "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. (DO)" [PMID:17893665 "DO"] synonym: "autosomal recessive congenital cataract 3" EXACT [] synonym: "cataract 34 multiple types with or without microcornea" EXACT [] synonym: "CATC3" EXACT [] synonym: "CTRCT34" EXACT [] xref: MESH:C567835 xref: MIM:612968 xref: MONDO:0013067 is_a: DOID:83 ! cataract [Term] id: DOID:0110231 name: cataract 1 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)" [PMID:9497259 "DO"] synonym: "CAE1" EXACT [] synonym: "CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA" EXACT [] synonym: "Cataract, Duffy-Linked" EXACT [] synonym: "Cataract, Zonular Pulverulent 1" EXACT [] synonym: "CTRCT1" EXACT [] synonym: "CZP" EXACT [] synonym: "CZP1" EXACT [] synonym: "Pulverulent Zonular Cataract" EXACT [] xref: MESH:C566158 xref: MIM:116200 xref: MONDO:0007285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110232 name: cataract 29 def: "A cataract that has_material_basis_in variation in the region 2pter-p24. (DO)" [PMID:15933805 "DO"] synonym: "cataract 29 coralliform" EXACT [] xref: MIM:115800 xref: ORDO:98990 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0110233 name: cataract 27 alt_id: MIM:607304 def: "A cataract that has_material_basis_in mutation in the region 2p12. (DO)" [PMID:12091400 "DO"] synonym: "cataract 27 nuclear progressive" EXACT [] synonym: "Cataract, Congenital, Nuclear Progressive" EXACT [] synonym: "CCNP" EXACT [] synonym: "CTRCT27" EXACT [] synonym: "nuclear progressive cataract" EXACT [] xref: MESH:C564596 is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110234 name: cataract 4 multiple types alt_id: MESH:C563819 alt_id: MESH:C565131 def: "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)" [PMID:9927684 "DO"] synonym: "CACA" EXACT [] synonym: "cataract 4" EXACT [] synonym: "cataract 4, multiple types, with or without microcornea" EXACT [] synonym: "CCA3" EXACT [] synonym: "congenital blue dot type cataract, 3" EXACT [] synonym: "congenital cataract, cerulean type 3" EXACT [] synonym: "CRYGD-RELATED DISORDER" EXACT [] synonym: "CTRCT4" EXACT [] synonym: "nonnuclear polymorphic congenital cataract" EXACT [] synonym: "PCC" EXACT [] synonym: "punctate cataract, progressive juvenile-onset" EXACT [] xref: MIM:115700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110235 name: cataract 2 multiple types alt_id: MESH:C565133 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)" [PMID:10521291 "DO"] synonym: "CATARACT 2, COPPOCK-LIKE" EXACT [] synonym: "cataract 2 multiple types with or without microcornea" EXACT [] synonym: "Cataract, Coppock-Like" EXACT [] synonym: "Cataract, Embryonic Nuclear" EXACT [] synonym: "CCL" EXACT [] synonym: "CRYGC-RELATED CONDITION" EXACT [] synonym: "CTRCT2" EXACT [] synonym: "nuclear pulverulent cataract" NARROW [] xref: MIM:604307 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110236 name: cataract 39 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. (DO)" [PMID:23288985 "DO"] synonym: "autosomal dominant cataract 39 multiple types" EXACT [] synonym: "autosomal dominant cataract, multiple types 2" EXACT [] synonym: "CTRCT39" EXACT [] xref: MIM:615188 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110237 name: cataract 42 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. (DO)" [PMID:23508780 "DO"] synonym: "CRYBA2-RELATED CONDITION" EXACT [] synonym: "CTRCT42" RELATED [] xref: MIM:115900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110238 name: cataract 18 alt_id: MIM:610019 def: "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. (DO)" [PMID:21636066 "DO"] synonym: "autosomal recessive congenital cataract 2" EXACT [] synonym: "cataract 18 autosomal recessive" EXACT [] synonym: "CATC2" EXACT [] synonym: "CTRCT18" EXACT [] synonym: "FYCO1-RELATED CONDITION" EXACT [] xref: MESH:C535337 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110239 name: cataract 12 multiple types alt_id: MIM:611597 def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)" [PMID:10729115 "DO"] synonym: "autosomal dominant cataract, multiple types 1" EXACT [] synonym: "BFSP2-RELATED CONDITION" EXACT [] synonym: "CTRCT12" EXACT [] xref: MESH:C566909 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110240 name: cataract 20 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. (DO)" [PMID:16141006 "DO"] synonym: "CTRCT20" EXACT [] xref: MIM:116100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110241 name: cataract 41 alt_id: MIM:116400 def: "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)" [PMID:23531866 "DO"] synonym: "Cataract 41, Congenital Nuclear Type" EXACT [] synonym: "Cataract, Nuclear Total" EXACT [] synonym: "CTRCT41" EXACT [] xref: MESH:C566156 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110242 name: cataract 13 with adult i phenotype alt_id: MIM:110800 alt_id: MIM:116700 def: "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)" [PMID:11739194 "DO"] synonym: "adult i blood group phenotype" EXACT [] synonym: "Adult i Blood Group with Congenital Cataract" EXACT [] synonym: "ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT" EXACT [] synonym: "Adult i Blood Group without Congenital Cataract" NARROW [] synonym: "adult i phenotype without cataract" NARROW [] synonym: "CTRCT13" EXACT [] synonym: "GCNT2-RELATED CONDITION" EXACT [] synonym: "I BLOOD GROUP SYSTEM" RELATED [] xref: MESH:C566214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110243 name: cataract 46 juvenile-onset def: "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)" [PMID:26788539 "DO"] synonym: "cataract, Hutterite type" EXACT [] synonym: "CTRCT46" EXACT [] synonym: "juvenilae cataract Hutterite type" EXACT [] synonym: "juvenile cataract, Hutterite type" EXACT [] synonym: "juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy" EXACT [] synonym: "LEMD2-RELATED CONDITION" BROAD [] xref: MESH:C538286 xref: MIM:212500 xref: MONDO:0008925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110244 name: cataract 28 alt_id: MIM:609026 def: "A cataract that has_material_basis_in variation in the region 6p12-q12. (DO)" [PMID:15452352 "DO"] synonym: "age-related cortical cataract 1" EXACT [] synonym: "ARCC1" EXACT [] synonym: "CATARACT, AGE-CORTICAL, 1" RELATED [] synonym: "CTRCT28" EXACT [] xref: MESH:C563812 is_a: DOID:13574 ! cortical senile cataract is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110245 name: cataract 38 def: "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. (DO)" [PMID:22415731 "DO"] synonym: "AGK-related disorder" EXACT [] synonym: "AGK-related disorders" EXACT [] synonym: "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5" EXACT [] synonym: "CATC5" EXACT [] synonym: "CTRCT38" EXACT [] xref: MIM:614691 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110246 name: cataract 26 multiple types alt_id: MIM:605749 def: "A cataract that has_material_basis_in variation in the region 9q13-q22. (DO)" [PMID:11179024 "DO"] synonym: "CAAR" EXACT [] synonym: "Cataract, Autosomal Recessive, Early-Onset, Pulverulent" EXACT [] synonym: "CTRCT26" EXACT [] xref: MESH:C565298 is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110247 name: cataract 36 def: "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. (DO)" [PMID:21436445 "DO"] synonym: "autosomal recessive congenital cataract 4" EXACT [] synonym: "CATC4" EXACT [] synonym: "CTRCT36" EXACT [] synonym: "TDRD7-RELATED DISORDER" EXACT [] xref: MIM:613887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110248 name: cataract 30 alt_id: MESH:C566157 def: "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)" [PMID:19126778 "DO"] synonym: "CATARACT 30, MULTIPLE TYPES" EXACT [] synonym: "Cataract 30, pulverulent" EXACT [] synonym: "cataract Coppock-like" EXACT [] synonym: "Cataract, Nuclear Diffuse Nonprogressive" EXACT [] synonym: "CTRCT30" EXACT [] synonym: "Dusty cataract" EXACT [] xref: MIM:116300 xref: ORDO:98984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110249 name: cataract 11 multiple types alt_id: DOID:9005728 def: "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)" [PMID:9620774 "DO"] synonym: "CPP4" EXACT [] synonym: "CTPP4" EXACT [] synonym: "CTRCT11" EXACT [] synonym: "PITX3-related condition" BROAD [] synonym: "posterior polar cataract 11" EXACT [] synonym: "posterior polar cataract 11 with microphthalmia and neurodevelopmental abnormalities" EXACT [] synonym: "posterior polar cataract 4" EXACT [] xref: MESH:C535344 xref: MIM:610623 xref: MONDO:0012527 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110250 name: cataract 16 multiple types def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)" [PMID:11577372 "DO"] synonym: "CATARACT, CONGENITAL LAMELLAR" EXACT [] synonym: "CTPP2" NARROW [] synonym: "CTRCT16" EXACT [] synonym: "posterior polar cataract 2" NARROW [] xref: MESH:C565134 xref: MIM:613763 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110251 name: cataract 15 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. (DO)" [PMID:10802646 "DO"] synonym: "CTRCT15" EXACT [] synonym: "MIP-RELATED CONDITION" EXACT [] xref: MIM:615274 xref: MONDO:0014110 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110252 name: cataract 37 def: "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. (DO)" [PMID:21731060 "DO"] synonym: "CCA5" EXACT [] synonym: "congenital cataract cerulean type 5" EXACT [] synonym: "CTRCT37" EXACT [] xref: MIM:614422 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0110253 name: cataract 14 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. (DO)" [PMID:9199569 "DO"] synonym: "CAE3" EXACT [] synonym: "CTRCT14" EXACT [] synonym: "CZP3" NARROW [] synonym: "GJA3-RELATED DISORDER" EXACT [] synonym: "zonular pulverulent cataract 3" NARROW [] xref: MESH:C566608 xref: MIM:601885 xref: MONDO:0011162 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110254 name: cataract 25 alt_id: MIM:605728 def: "A cataract that has_material_basis_in variation in the region 15q21-q22. (DO)" [PMID:11133359 "DO"] synonym: "CCSSO" EXACT [] synonym: "central pouch-like cataract with sutural opacities" EXACT [] synonym: "central saccular cataract with sutural opacities" EXACT [] synonym: "CTRCT25" EXACT [] synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [] xref: MESH:C565301 xref: ORDO:98985 is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110255 name: cataract 5 multiple types alt_id: MIM:116800 alt_id: OMIA:001758 def: "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)" [PMID:12089525 "DO"] synonym: "CAM" EXACT [] synonym: "Cataract, Marner Type" EXACT [] synonym: "CTM" EXACT [] synonym: "CTRCT5" EXACT [] synonym: "early onset cataract" EXACT [] synonym: "HSF4-RELATED DISORDER" EXACT [] synonym: "lamellar cataract" EXACT [] synonym: "perinuclear cataract" EXACT [] synonym: "zonular cataract" EXACT [] xref: MESH:C535342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110256 name: cataract 21 multiple types alt_id: MIM:610202 def: "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. (DO)" [PMID:11772997 "DO"] synonym: "cataract 21 multiple types, with or without microcornea" EXACT [] synonym: "CCA4" EXACT [] synonym: "congenital cataract, cerulean type, 4" EXACT [] synonym: "CTRCT21" EXACT [] synonym: "MAF-RELATED CONDITION" BROAD [] synonym: "pulverulent cataract, juvenile-onset" EXACT [] xref: MESH:C565703 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110257 name: cataract 24 alt_id: MIM:601202 def: "A cataract that has_material_basis_in variation in the region 17p13. (DO)" [PMID:8852669 "DO"] synonym: "anterior polar cataract 2" NARROW [] synonym: "anterior polar cataract 24" NARROW [] synonym: "CTAA2" NARROW [] synonym: "CTRCT24" EXACT [] xref: MESH:C537774 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110258 name: cataract 10 multiple types alt_id: MIM:600881 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. (DO)" [PMID:7573044 "DO"] synonym: "CCZS" NARROW [] synonym: "congenital zonular cataract with sutural opacities" NARROW [] synonym: "CRYBA1-RELATED DISORDER" EXACT [] synonym: "CTRCT10" EXACT [] xref: MESH:C563435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110259 name: cataract 43 def: "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. (DO)" [PMID:24549050 "DO"] synonym: "CTRCT43" EXACT [] synonym: "UNC45B-RELATED CONDITION" BROAD [] xref: MIM:616279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110260 name: cataract 7 alt_id: MIM:115660 def: "A cataract that has_material_basis_in variation in the region 17q24. (DO)" [PMID:7704021 "DO"] synonym: "CATARACT 7, CERULEAN TYPE" EXACT [] synonym: "CCA1" EXACT [] synonym: "Cerulean Cataract" EXACT [] synonym: "congenital cataract, blue dot type 1" EXACT [] synonym: "congenital cataract, cerulean type 1" EXACT [] synonym: "CTRCT7" EXACT [] xref: MESH:C537955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110261 name: cataract 35 alt_id: MIM:609376 def: "A cataract that has_material_basis_in variation in the region 19q13. (DO)" [PMID:15671291 "DO"] synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [] synonym: "cataract 35, congenital nuclear" EXACT [] synonym: "CATCN1" EXACT [] synonym: "CTRCT35" EXACT [] xref: MESH:C563728 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110262 name: cataract 45 def: "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. (DO)" [PMID:25804400 "DO"] synonym: "CTRCT45" EXACT [] synonym: "SIPA1L3-related condition" BROAD [] xref: MIM:616851 xref: MONDO:0014799 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110263 name: cataract 19 multiple types def: "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. (DO)" [PMID:11917274 "DO"] synonym: "CATARACT 19" EXACT [] synonym: "CTRCT19" EXACT [] synonym: "LIM2-RELATED CONDITION" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:615277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110264 name: cataract 33 alt_id: MIM:611391 def: "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)" [PMID:17225135 "DO"] synonym: "BFSP1-RELATED CONDITION" EXACT [] synonym: "CATARACT 33, MULTIPLE TYPES" EXACT [] synonym: "cortical cataract 33" EXACT [] synonym: "cortical cataract, juvenile-onset" RELATED [] synonym: "CTRCT33" EXACT [] xref: MESH:C566955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110265 name: cataract 31 multiple types alt_id: MIM:605387 def: "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. (DO)" [PMID:17701905 "DO"] synonym: "CHMP4B-RELATED DISORDER" EXACT [] synonym: "CPP3" EXACT [] synonym: "CTPP3" EXACT [] synonym: "CTRCT31" EXACT [] synonym: "posterior polar cataract 3" EXACT [] xref: MESH:C535343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110266 name: cataract 9 multiple types alt_id: DOID:9002535 def: "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)" [MIM:604219 "DO", PMID:26867756 "DO"] synonym: "Cataract 9, autosomal recessive" NARROW [] synonym: "Cataract 9, multiple types, with or without microcornea" EXACT [] synonym: "Cataract, autosomal dominant" NARROW [] synonym: "Cataract, autosomal dominant, multiple types, with microcornea" NARROW [] synonym: "Cataract, autosomal recessive congenital 1" NARROW [] synonym: "CATC1" NARROW [] synonym: "CRYAA-RELATED DISORDER" EXACT [] synonym: "CTRCT9" EXACT [] xref: MESH:C565136 xref: MESH:C565815 xref: MIM:604219 xref: MONDO:0011413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110267 name: cataract 44 def: "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)" [PMID:26200341 "DO"] synonym: "congenital cataract-44" EXACT [] synonym: "CTRCT44" EXACT [] synonym: "total early-onset cataract" EXACT [] xref: MIM:616509 xref: ORDO:98994 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110268 name: cataract 22 multiple types alt_id: MIM:609741 def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. (DO)" [PMID:15914629 "DO"] synonym: "Cataract, Congenital Nuclear, Autosomal Recessive 2" EXACT [] synonym: "CATCN2" EXACT [] synonym: "CRYBB3-RELATED DISORDER" EXACT [] synonym: "CTRCT22" EXACT [] xref: MESH:C565725 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110269 name: cataract 3 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)" [PMID:9158139 "DO"] synonym: "cataract 3 multiple types with or without microcornea" EXACT [] synonym: "Cataract, Congenital, Blue Dot Type, 2" EXACT [] synonym: "CCA2" NARROW [] synonym: "congenital Cerulean type cataract 2" NARROW [] synonym: "CTRCT3" EXACT [] xref: MESH:C563294 xref: MIM:601547 xref: MONDO:0011104 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110270 name: cataract 17 multiple types alt_id: MIM:611544 def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)" [PMID:12360425 "DO"] synonym: "CATARACT 17" EXACT [] synonym: "CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA" EXACT [] synonym: "Cataract, Congenital Nuclear, Autosomal Recessive 3" EXACT [] synonym: "CATCN3" EXACT [] synonym: "CRYBB1-RELATED DISORDER" EXACT [] synonym: "CTRCT17" EXACT [] xref: MESH:C566923 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110271 name: cataract 23 def: "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. (DO)" [PMID:16960806 "DO"] synonym: "cataract 23, multiple types" EXACT [] synonym: "cataract 23, multiple types, with or without microcornea" EXACT [] synonym: "CTRCT23" EXACT [] synonym: "lamellar cataract 23" EXACT [] xref: MIM:610425 is_a: DOID:83 ! cataract [Term] id: DOID:0110272 name: cataract 40 def: "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. (DO)" [PMID:15370543 "DO"] synonym: "CATARACT 40 WITH OR WITHOUT MICROCORNEA" EXACT [] synonym: "cataract 40, X-linked" EXACT [] synonym: "Cataract, total congenital with posterior sutural opacities in Heterozygotes" EXACT [] synonym: "CCT" EXACT [] synonym: "congenital cataract with microcornea or slight microphthalmia" EXACT [] synonym: "CTRCT40" EXACT [] synonym: "CXN" EXACT [] synonym: "NHS-RELATED CONDITION" BROAD [] synonym: "total congenital cataract" EXACT [] synonym: "X-linked congenital cataract" EXACT [] xref: MESH:C535338 xref: MIM:302200 xref: MONDO:0010544 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10629 ! microphthalmia is_a: DOID:83 ! cataract [Term] id: DOID:0110273 name: autosomal dominant limb-girdle muscular dystrophy def: "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:3275904 "DO"] xref: MIM:PS603511 xref: ORDO:102014 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11724 ! limb-girdle muscular dystrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110274 name: autosomal recessive limb-girdle muscular dystrophy def: "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)" [PMID:13810212 "DO"] synonym: "recessive limb-girdle muscular dystrophy" EXACT [] xref: MESH:C538640 xref: MIM:PS253600 xref: ORDO:102015 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:0110275 name: autosomal recessive limb-girdle muscular dystrophy type 2A def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)" [PMID:7720071 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy, 1" EXACT [] synonym: "calpainopathy" EXACT [] synonym: "CAPN3-RELATED DISORDER" BROAD [] synonym: "eosinophilic myositis" NARROW [] synonym: "Leyden-Moebius muscular dystrophy" EXACT [] synonym: "LGMD2" EXACT [] synonym: "LGMD2A" EXACT [] synonym: "LGMDR1" EXACT [] synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 2" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2A" EXACT [] synonym: "pelvofemoral muscular dystrophy" EXACT [] synonym: "primary calpainopathy" EXACT [] xref: EFO:0000310 xref: GARD:3845 xref: MESH:C535895 xref: MIM:253600 xref: MONDO:0009675 xref: NCI:C142079 xref: ORDO:267 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110276 name: autosomal recessive limb-girdle muscular dystrophy type 2B def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)" [PMID:9731527 "DO"] synonym: "LGMD2B" EXACT [] synonym: "LGMD3" EXACT [] synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [] synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B" EXACT [] synonym: "Muscular dystrophy, limb-girdle, type 3" EXACT [] xref: MESH:C535899 xref: MIM:253601 xref: MONDO:0009676 xref: NCI:C142080 xref: ORDO:268 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110277 name: autosomal recessive limb-girdle muscular dystrophy type 2C def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)" [PMID:7481775 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 5" EXACT [] synonym: "DMDA" EXACT [] synonym: "DMDA1" EXACT [] synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" EXACT [] synonym: "gamma-sarcoglycanopathy" EXACT [] synonym: "LGMD2C" EXACT [] synonym: "LGMDR5" EXACT [] synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" EXACT [] synonym: "Maghrebian myopathy" EXACT [] synonym: "muscular dystrophy, Duchenne-like" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [] synonym: "SARCOGLYCAN, GAMMA, DEFICIENCY OF" EXACT [] synonym: "SCARMD" EXACT [] synonym: "secondary adhalin deficiency" EXACT [] synonym: "severe autosomal recessive muscular dystrophy of childhood - North African type" EXACT [] synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" EXACT [] synonym: "SGCG-related condition" BROAD [] xref: MESH:C535900 xref: MIM:253700 xref: MONDO:0009677 xref: ORDO:353 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110278 name: autosomal recessive limb-girdle muscular dystrophy type 2D def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. (DO)" [https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", PMID:30055862 "DO"] synonym: "adhalinopathies" EXACT [] synonym: "alpha-sarcoglycanopathies" EXACT [] synonym: "alpha-sarcoglycanopathy" EXACT [] synonym: "DMDA2" EXACT [] synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [] synonym: "LGMD2D" EXACT [] synonym: "LGMDR3" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 3" EXACT [] synonym: "limb girdle muscular dystrophy, type 2D" EXACT [] synonym: "limb girdle muscular dystrophy with alpha sarcoglycan deficiency" EXACT [] synonym: "primary adhalinopathies" EXACT [] synonym: "primary adhalinopathy" EXACT [] synonym: "sarcoglycanopathies" EXACT [] synonym: "sarcoglycanopathy" EXACT [] xref: MESH:D058088 xref: MIM:608099 xref: MONDO:0011968 xref: NCI:C142081 xref: ORDO:62 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:0110279 name: autosomal recessive limb-girdle muscular dystrophy type 2E alt_id: MESH:C535435 alt_id: MIM:604286 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)" [PMID:7581448 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 4" EXACT [] synonym: "beta-sarcoglycan limb-girdle muscular dystrophy" EXACT [] synonym: "beta-sarcoglycanopathy" EXACT [] synonym: "LGMD2E" EXACT [] synonym: "LGMDR4" EXACT [] synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy with beta-sarcoglycan deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF BETA-SARCOGLYCAN" EXACT [] xref: MESH:C535902 xref: NCI:C180849 xref: ORDO:119 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110280 name: autosomal recessive limb-girdle muscular dystrophy type 2F alt_id: MIM:601287 alt_id: OMIA:002122 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)" [PMID:8841194 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 6" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy 6, digenic" NARROW [] synonym: "DELTA-SARCOGLYCANOPATHY" EXACT [] synonym: "LGMD2F" EXACT [] synonym: "LGMDR6" EXACT [] synonym: "limb-girdle muscular dystrophy 2F" EXACT [] synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 2F" EXACT [] synonym: "limb-girdle muscular dystrophy type 2f, digenic" NARROW [] synonym: "limb-girdle muscular dystrophy with delta-sarcoglyan deficiency" EXACT [] xref: MESH:C535896 xref: ORDO:219 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110281 name: autosomal recessive limb-girdle muscular dystrophy type 2G def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). (DO)" [PMID:10655062 "DO"] synonym: "LGMD2G" EXACT [] synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [] xref: MESH:C566599 xref: MIM:601954 xref: MONDO:0011170 xref: ORDO:34514 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110282 name: autosomal recessive limb-girdle muscular dystrophy type 2H def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. (DO)" [PMID:11822024 "DO"] synonym: "LGMD2H" EXACT [] synonym: "LGMDR8" EXACT [] synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 2H" EXACT [] synonym: "muscular dystrophy Hutterite type" EXACT [] synonym: "sarcotubular myopathy" EXACT [] synonym: "TRIM32-RELATED CONDITION" BROAD [] xref: GARD:3844 xref: MESH:C535897 xref: MIM:254110 xref: MONDO:0009683 xref: ORDO:1878 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110283 name: autosomal recessive limb-girdle muscular dystrophy type 2J def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). (DO)" [PMID:12145747 "DO"] synonym: "autosomal recessive titinopathy" BROAD [] synonym: "LGMD2J" EXACT [] synonym: "LGMDR10" EXACT [] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 10" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [] xref: ICD10CM:G71.0 xref: MESH:C563854 xref: MIM:608807 xref: MONDO:0012127 xref: ORDO:140922 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110284 name: autosomal recessive limb-girdle muscular dystrophy type 2L alt_id: MIM:611307 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. (DO)" [PMID:20096397 "DO"] synonym: "anoctaminopathy" EXACT [] synonym: "LGMD2L" EXACT [] synonym: "limb-girdle muscular dystrophy type 2L" EXACT [] xref: MESH:C566968 xref: ORDO:206549 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110285 name: autosomal recessive limb-girdle muscular dystrophy type 2Q def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)" [PMID:21109228 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 17" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [] synonym: "LGMD2Q" EXACT [] synonym: "LGMDR17" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2Q" EXACT [] xref: MIM:613723 xref: ORDO:254361 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110287 name: autosomal recessive limb-girdle muscular dystrophy type 2S def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. (DO)" [PMID:23830518 "DO"] synonym: "LGMD2S" EXACT [] synonym: "LGMDR18" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 18" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2S" EXACT [] synonym: "TRAPPC11-RELATED CONDITION" EXACT [] xref: MIM:615356 xref: MONDO:0014144 xref: ORDO:369840 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110288 name: autosomal recessive limb-girdle muscular dystrophy type 2W def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. (DO)" [PMID:25589244 "DO"] synonym: "autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue" EXACT [] synonym: "LGMD2W" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2W" EXACT [] xref: MIM:616827 xref: MONDO:0014788 xref: ORDO:466801 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110289 name: autosomal recessive limb-girdle muscular dystrophy type 2Y def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. (DO)" [PMID:24856141 "DO"] synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [] synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [] synonym: "autosomal recessive myopathy with rigid spine and distal joint contractures" EXACT [] synonym: "LGMD2Y" EXACT [] synonym: "limb-girdle muscular dystrophy type 2Y" EXACT [] synonym: "MRRSDC" EXACT [] synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT [] xref: MIM:617072 xref: NCI:C181000 xref: ORDO:424261 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110290 name: autosomal recessive limb-girdle muscular dystrophy type 2X def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. (DO)" [PMID:26642364 "DO"] synonym: "BVES-RELATED CONDITION" EXACT [] synonym: "CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE" EXACT [] synonym: "CARICK" EXACT [] synonym: "LGMD2X" EXACT [] synonym: "LGMDR25" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 25" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2X" EXACT [] xref: MIM:616812 xref: ORDO:476084 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0110291 name: Leber congenital amaurosis 10 def: "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)" [PMID:16909394 "DO"] synonym: "LCA10" EXACT [] xref: MESH:C565720 xref: MIM:611755 xref: MONDO:0012723 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110292 name: autosomal recessive limb-girdle muscular dystrophy type 2O def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)" [PMID:18195152 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 15" EXACT [] synonym: "LGMD2O" EXACT [] synonym: "LGMDR15" EXACT [] synonym: "MDDGC3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [] xref: MIM:613157 xref: MONDO:0013161 xref: ORDO:206564 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110293 name: autosomal recessive limb-girdle muscular dystrophy type 2P def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)" [PMID:21388311 "DO"] synonym: "DAG1-related condition" BROAD [] synonym: "LGMD2P" EXACT [] synonym: "MDDGC9" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2P" EXACT [] xref: MIM:613818 xref: MONDO:0013440 xref: ORDO:280333 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110294 name: autosomal recessive limb-girdle muscular dystrophy type 2T def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. (DO)" [PMID:23768512 "DO"] synonym: "LGMD2T" EXACT [] synonym: "MDDGC14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [] synonym: "muscular dystrophy limb-girdle type 2T" EXACT [] xref: MIM:615352 xref: MONDO:0014142 xref: ORDO:363623 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110295 name: autosomal recessive limb-girdle muscular dystrophy type 2U def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)" [PMID:23390185 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [] synonym: "LGMD2U" EXACT [] synonym: "MDDGC7" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" EXACT [] synonym: "muscular dystrophy limb-girdle type 2U" EXACT [] xref: MIM:616052 xref: MONDO:0014474 xref: ORDO:352479 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110296 name: autosomal recessive limb-girdle muscular dystrophy type 2M def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. (DO)" [PMID:17044012 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 13" EXACT [] synonym: "LGMD2M" EXACT [] synonym: "LGMDR13" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C4" EXACT [] synonym: "limb-girdle muscular dystrophy type 2M" EXACT [] synonym: "MDDGC4" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [] xref: MESH:C566912 xref: MIM:611588 xref: MONDO:0012699 xref: ORDO:206554 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110297 name: autosomal recessive limb-girdle muscular dystrophy type 2K def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)" [PMID:15792865 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 11" EXACT [] synonym: "LGMD2K" EXACT [] synonym: "LGMDR11" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C1" EXACT [] synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2K" EXACT [] synonym: "MDDGC1" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [] synonym: "POMT1-related muscle-eye-brain disease" EXACT [] xref: EFO:0009145 xref: MIM:609308 xref: MONDO:0012248 xref: NCI:C133730 xref: ORDO:86812 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110298 name: autosomal recessive limb-girdle muscular dystrophy type 2N def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)" [PMID:17878207 "DO"] synonym: "LGMD2N" EXACT [] synonym: "LGMDR14" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 14" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, POMT2-related" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C2" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2N" EXACT [] synonym: "MDDGC2" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [] xref: MIM:613158 xref: MONDO:0013162 xref: ORDO:206559 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110299 name: autosomal recessive limb-girdle muscular dystrophy type 2I def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)" [PMID:11592034 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 9" EXACT [] synonym: "LGMD2I" EXACT [] synonym: "LGMDR9" EXACT [] synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C5" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2I" EXACT [] synonym: "MDDGC5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [] xref: MESH:C564612 xref: MIM:607155 xref: MONDO:0011787 xref: NCI:C126739 xref: ORDO:34515 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110303 name: autosomal dominant limb-girdle muscular dystrophy type 1H def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23. (DO)" [PMID:20068593 "DO"] synonym: "LGMD1H" EXACT [] synonym: "muscular dystrophy limb-girdle type 1H" EXACT [] xref: MIM:613530 xref: MONDO:0013297 xref: ORDO:238755 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110304 name: autosomal dominant limb-girdle muscular dystrophy type 2 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)" [PMID:23543484 "DO", PMID:23667635 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1F" EXACT [] synonym: "LGMD1F" EXACT [] synonym: "muscular dystrophy limb-girdle type 1F" EXACT [] xref: MESH:C564242 xref: MIM:608423 xref: MONDO:0012034 xref: ORDO:55595 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110305 name: autosomal dominant limb-girdle muscular dystrophy type 1 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)" [PMID:22334415 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy 1" EXACT [] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" EXACT [] synonym: "LGMD1D" EXACT [] synonym: "LGMD1E" EXACT [] synonym: "LGMDD1" EXACT [] synonym: "muscular dystrophy limb-girdle type 1D" EXACT [] synonym: "muscular dystrophy limb-girdle type 1E" EXACT [] xref: MESH:C566370 xref: MESH:C566589 xref: MIM:603511 xref: MONDO:0021018 xref: ORDO:34517 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110306 name: autosomal dominant limb-girdle muscular dystrophy type 3 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. (DO)" [PMID:24647604 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1G" EXACT [] synonym: "LGMD1G" EXACT [] synonym: "muscular dystrophy limb-girdle type 1G" EXACT [] xref: MESH:C563794 xref: MIM:609115 xref: MONDO:0012193 xref: ORDO:55596 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110307 name: hypertrophic cardiomyopathy 1 alt_id: DOID:0110325 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. (DO)" [PMID:1975517 "DO"] synonym: "ASH" EXACT [] synonym: "asymmetric septal hypertrophy" EXACT [] synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [] synonym: "CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC" EXACT [] synonym: "CMH" EXACT [] synonym: "CMH1" EXACT [] synonym: "hypertrophic cardiomyopathy 19" EXACT [] synonym: "idiopathic hypertrophic subaortic stenosis" EXACT [] synonym: "MYLK2-RELATED CONDITION" NARROW [] xref: MESH:C566005 xref: MIM:192600 xref: MONDO:0008647 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110308 name: hypertrophic cardiomyopathy 2 alt_id: MIM:115195 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). (DO)" [PMID:8205619 "DO"] synonym: "cardiomyopathy familial hypertrophic 2" EXACT [] synonym: "CMH2" EXACT [] xref: MESH:C566171 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110309 name: hypertrophic cardiomyopathy 3 alt_id: MIM:115196 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. (DO)" [PMID:8205619 "DO"] synonym: "cardiomyopathy familial hypertrophic 3" EXACT [] synonym: "CMH3" EXACT [] synonym: "TPM1-RELATED CONDITION" BROAD [] xref: MESH:C566170 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110310 name: hypertrophic cardiomyopathy 4 alt_id: MIM:115197 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. (DO)" [PMID:7493025 "DO", PMID:7493026 "DO"] synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO" RELATED [] synonym: "CMH4" EXACT [] synonym: "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 4" EXACT [] synonym: "MYBPC3-RELATED CONDITION" BROAD [] xref: MESH:C566169 xref: RDO:0014607 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110311 name: hypertrophic cardiomyopathy 21 def: "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. (DO)" [PMID:16651466 "DO"] synonym: "cardiomyopathy familial hypertrophic 21" EXACT [] synonym: "CMH21" EXACT [] xref: MIM:614676 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110312 name: hypertrophic cardiomyopathy 6 alt_id: MIM:600858 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). (DO)" [PMID:11586962 "DO"] synonym: "CMH6" EXACT [] synonym: "familial hypertrophic cardiomyopathy 6" EXACT [] synonym: "PRKAG2-RELATED CARDIOMYOPATHY" EXACT [] xref: MESH:C563436 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110313 name: hypertrophic cardiomyopathy 7 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. (DO)" [PMID:9241277 "DO"] synonym: "CMH7" EXACT [] synonym: "familial hypertrophic cardiomyopathy 7" EXACT [] xref: MIM:613690 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110314 name: hypertrophic cardiomyopathy 8 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. (DO)" [PMID:8673105 "DO"] synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT [] synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT [] synonym: "CMH8" EXACT [] synonym: "MYL3-related condition" BROAD [] xref: MESH:C563866 xref: MIM:608751 xref: MONDO:0012111 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110315 name: hypertrophic cardiomyopathy 9 alt_id: MIM:613765 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)" [PMID:10462489 "DO"] synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT [] synonym: "CMH9" EXACT [] xref: MESH:C566044 xref: RDO:0014519 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110316 name: hypertrophic cardiomyopathy 10 alt_id: MIM:608758 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. (DO)" [PMID:8673105 "DO"] synonym: "Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2" EXACT [] synonym: "CMH10" EXACT [] synonym: "familial hypertrophic cardiomyopathy 10" EXACT [] synonym: "FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY" EXACT [] xref: MESH:C563865 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110317 name: hypertrophic cardiomyopathy 11 alt_id: MIM:612098 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)" [PMID:10330430 "DO"] synonym: "cardiomyopathy familial hypertrophic 11" EXACT [] synonym: "CMH11" EXACT [] xref: MESH:C567419 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110318 name: hypertrophic cardiomyopathy 12 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. (DO)" [PMID:12642359 "DO"] synonym: "cardiomyopathy familial hypertrophic 12" EXACT [] synonym: "CMH12" EXACT [] synonym: "CSRP3-RELATED DISORDER" BROAD [] xref: MIM:612124 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110319 name: hypertrophic cardiomyopathy 13 alt_id: MIM:613243 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. (DO)" [PMID:11385718 "DO"] synonym: "cardiomyopathy familial hypertrophic 13" EXACT [] synonym: "CMH13" EXACT [] synonym: "TNNC1-RELATED CONDITION" BROAD [] xref: MESH:C567686 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110320 name: hypertrophic cardiomyopathy 14 alt_id: MIM:613251 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. (DO)" [PMID:11815426 "DO"] synonym: "cardiomyopathy familial hypertrophic 14" EXACT [] synonym: "CMH14" EXACT [] xref: MESH:C567684 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110321 name: hypertrophic cardiomyopathy 15 alt_id: MIM:613255 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. (DO)" [PMID:16712796 "DO"] synonym: "cardiomyopathy familial hypertrophic 15" EXACT [] synonym: "CMH15" EXACT [] synonym: "VCL-RELATED CONDITION" BROAD [] xref: MESH:C567681 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110322 name: hypertrophic cardiomyopathy 16 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. (DO)" [PMID:17347475 "DO"] synonym: "cardiomyopathy familial hypertrophic 16" EXACT [] synonym: "CMH16" EXACT [] synonym: "MYOZ2-RELATED CONDITION" EXACT [] xref: MIM:613838 xref: MONDO:0013455 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110323 name: hypertrophic cardiomyopathy 17 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)" [PMID:17509612 "DO"] synonym: "cardiomyopathy familial hypertrophic 17" EXACT [] synonym: "CMH17" EXACT [] synonym: "JPH2-RELATED CONDITION" BROAD [] xref: MIM:613873 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110324 name: hypertrophic cardiomyopathy 18 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. (DO)" [PMID:12705874 "DO"] synonym: "cardiomyopathy familial hypertrophic 18" EXACT [] synonym: "CMH18" EXACT [] synonym: "PLN-RELATED CONDITION" BROAD [] xref: MIM:613874 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110326 name: hypertrophic cardiomyopathy 20 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. (DO)" [PMID:20970104 "DO"] synonym: "cardiomyopathy familial hypertrophic 20" EXACT [] synonym: "CMH20" EXACT [] synonym: "NEXN-RELATED CONDITION" BROAD [] xref: MIM:613876 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110327 name: hypertrophic cardiomyopathy 26 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)" [PMID:25351925 "DO"] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15" RELATED [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15" RELATED [] synonym: "ARVC15" RELATED [] synonym: "ARVD15" RELATED [] synonym: "CARDIOMYOPATHY, DILATED, 1PP" RELATED [] synonym: "CMD1PP" RELATED [] synonym: "CMH26" EXACT [] synonym: "familial hypertrophic cardiomyopathy 26" EXACT [] synonym: "familial restrictive cardiomyopathy 5" RELATED [] synonym: "RCM5" RELATED [] xref: MIM:617047 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0110328 name: hypertrophic cardiomyopathy 25 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. (DO)" [PMID:15582318 "DO"] synonym: "cardiomyopathy familial hypertrophic 25" EXACT [] synonym: "CMD1N" NARROW [] synonym: "CMH25" EXACT [] synonym: "dilated cardiomyopathy 1N" NARROW [] xref: MESH:C564388 xref: MIM:607487 xref: MONDO:0011843 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110329 name: Leber congenital amaurosis 6 alt_id: MIM:613826 def: "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. (DO)" [PMID:11283794 "DO"] synonym: "LCA6" EXACT [] xref: MESH:C565327 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110330 name: Leber congenital amaurosis 13 alt_id: MIM:612712 def: "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)" [PMID:15258582 "DO"] synonym: "LCA13" EXACT [] synonym: "RDH12-RELATED CONDITION" EXACT [] synonym: "RETINITIS PIGMENTOSA 53" NARROW [] synonym: "RP53" NARROW [] xref: MESH:C567197 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110331 name: Leber congenital amaurosis 3 alt_id: MESH:C536998 alt_id: MESH:C565814 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)" [PMID:19268277 "DO"] synonym: "amaurosis congenita of Leber, 3" EXACT [] synonym: "juvenile retinitis pigmentosa, autosomal recessive" NARROW [] synonym: "juvenile retinitis pigmentosa, SPATA7-related" NARROW [] synonym: "LCA3" EXACT [] synonym: "Leber Congenital Amaurosis Type 3" EXACT [] synonym: "retinitis pigmentosa 94, variable age at onset" NARROW [] synonym: "retinitis pigmentosa 94, variable age at onset, autosomal recessive" NARROW [] synonym: "RP94" NARROW [] synonym: "SPATA7-RELATED CONDITION" EXACT [] synonym: "SPATA7-related disorder" BROAD [] xref: MIM:604232 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110332 name: Leber congenital amaurosis 4 def: "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)" [PMID:10615133 "DO"] synonym: "AIPL1-RELATED CONDITION" BROAD [] synonym: "AIPL1-related disorders" BROAD [] synonym: "AIPL1-RELATED RETINOPATHY" BROAD [] synonym: "amaurosis congenita of Leber, 4" EXACT [] synonym: "CONE-ROD DYSTROPHY, AIPL1-RELATED" RELATED [] synonym: "juvenile retinitis pigmentosa, AIPL1-related" RELATED [] synonym: "LCA4" EXACT [] synonym: "Leber congenital amaurosis, type 4" EXACT [] synonym: "Retinitis pigmentosa, juvenile" RELATED [] xref: MESH:C536999 xref: MESH:C565778 xref: MIM:604393 xref: MONDO:0011458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110333 name: Leber congenital amaurosis 7 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)" [PMID:9537410 "DO"] synonym: "LCA7" EXACT [] xref: MIM:613829 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110334 name: osteogenesis imperfecta type 1 alt_id: MIM:166200 def: "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [PMID:2873381 "DO"] synonym: "OI1" EXACT [] synonym: "OI type I" EXACT [] synonym: "osteogenesis imperfecta, COL1A2-related" EXACT [] synonym: "osteogenesis imperfecta tarda" EXACT [] synonym: "osteogenesis imperfecta, type 1A" EXACT [] synonym: "osteogenesis imperfecta type 1, mild" EXACT [] synonym: "osteogenesis imperfecta, type 1, with dentinogenesis imperfecta" EXACT [] synonym: "osteogenesis imperfecta type I" EXACT [] synonym: "osteogenesis imperfecta, type I, with dentinogenesis imperfecta" EXACT [] synonym: "osteogenesis imperfecta with opalescent teeth" EXACT [] xref: GARD:8694 xref: MESH:C536041 xref: ORDO:216796 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:0110335 name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures alt_id: MIM:166230 def: "An osteogenesis imperfecta found in a single South African family. (DO)" [PMID:7241530 "DO"] xref: MESH:C563487 is_a: DOID:11343 ! scleral disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:0110336 name: osteogenesis imperfecta type 8 alt_id: MIM:610915 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)" [PMID:17277775 "DO"] synonym: "OI8" EXACT [] synonym: "OI, TYPE VIII" EXACT [] synonym: "osteogenesis imperfecta type VIII" EXACT [] synonym: "P3H1-RELATED CONDITION" EXACT [] xref: GARD:10152 xref: MESH:C536049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110337 name: osteogenesis imperfecta type 7 alt_id: MESH:C536043 alt_id: MIM:610682 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. (DO)" [PMID:17055431 "DO"] synonym: "OI2B" EXACT [] synonym: "OI7" EXACT [] synonym: "OI, Type VII" EXACT [] synonym: "Osteogenesis imperfecta, perinatal lethal, autosomal recessive" EXACT [] synonym: "osteogenesis imperfecta, type 2B" EXACT [] synonym: "osteogenesis imperfecta, type IIB" EXACT [] synonym: "osteogenesis imperfecta, type VII" EXACT [] xref: GARD:8701 xref: MESH:C565200 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110338 name: osteogenesis imperfecta type 17 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. (DO)" [PMID:26027498 "DO"] synonym: "OI17" EXACT [] synonym: "osteogenesis imperfecta type XVII" EXACT [] synonym: "SPARC-RELATED CONDITION" EXACT [] xref: MIM:616507 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110339 name: osteogenesis imperfecta type 3 alt_id: MIM:259420 alt_id: OMIA:002126 alt_id: RDO:0001458 def: "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [PMID:2794057 "DO", PMID:9099837 "DO"] synonym: "OI3" EXACT [] synonym: "OI, type III" EXACT [] synonym: "osteogenesis imperfecta type III" EXACT [] synonym: "osteogenesis imperfecta, type III/IV" BROAD [] synonym: "osteogenesis imperfecta, type III, COL1A1-related" NARROW [] synonym: "progressively deforming osteogenesis imperfecta with normal sclera" NARROW [] synonym: "progressively deforming osteogenesis imperfecta with normal sclerae" NARROW [] synonym: "SEVERE PROGRESSIVE DEFORMING RECESSIVE OSTEOGENESIS IMPERFECTA (TYPE III)" NARROW [] xref: GARD:8695 xref: ICD10CM:Q78.0 xref: MESH:C536044 xref: NCI:C99002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110340 name: osteogenesis imperfecta type 4 def: "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [PMID:2745420 "DO", PMID:2897363 "DO"] synonym: "OI4" EXACT [] synonym: "OI, type IV" EXACT [] synonym: "osteogenesis imperfecta, type III/IV" BROAD [] synonym: "osteogenesis imperfecta type IV" EXACT [] synonym: "osteogenesis imperfecta with normal sclera" EXACT [] synonym: "osteogenesis imperfecta with normal sclerae" EXACT [] xref: GARD:8696 xref: MESH:C536045 xref: MIM:166220 xref: MONDO:0008148 xref: NCI:C98576 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110341 name: osteogenesis imperfecta type 2 alt_id: MIM:166210 def: "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [PMID:3722184 "DO", PMID:6304100 "DO"] synonym: "OI2" EXACT [] synonym: "OIC" EXACT [] synonym: "OI type 2" EXACT [] synonym: "OI type II" EXACT [] synonym: "osteogenesis imperfecta congenita" EXACT [] synonym: "osteogenesis imperfecta congenita, perinatal lethal form" EXACT [] synonym: "OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL" NARROW [] synonym: "Osteogenesis Imperfecta, Type 2A" EXACT [] synonym: "osteogenesis imperfecta type 2, thin-bone" EXACT [] synonym: "osteogenesis imperfecta, type II" EXACT [] synonym: "osteogenesis imperfecta, type IIA" EXACT [] synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [] synonym: "Vrolik disease" EXACT [] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [] xref: GARD:10142 xref: MESH:C536042 xref: NCI:C99001 xref: ORDO:216804 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110342 name: osteogenesis imperfecta type 13 alt_id: RDO:9000624 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. (DO)" [PMID:22052668 "DO"] synonym: "BMP1-RELATED CONDITION" EXACT [] synonym: "OI13" EXACT [] synonym: "OI, TYPE XIII" EXACT [] synonym: "osteogenesis imperfecta type XIII" EXACT [] xref: MIM:614856 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110343 name: osteogenesis imperfecta type 14 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)" [PMID:23054245 "DO"] synonym: "OI14" EXACT [] synonym: "OI, type XIV" EXACT [] synonym: "osteogenesis imperfecta type XIV" EXACT [] synonym: "TMEM38B-RELATED CONDITION" EXACT [] xref: MIM:615066 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110344 name: osteogenesis imperfecta type 5 alt_id: MIM:610967 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. (DO)" [PMID:22863190 "DO"] synonym: "IFITM5-RELATED CONDITION" EXACT [] synonym: "OI5" EXACT [] synonym: "OI, TYPE V" EXACT [] synonym: "osteogenesis imperfecta type V" EXACT [] xref: GARD:8699 xref: MESH:C567042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110345 name: osteogenesis imperfecta type 16 def: "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. (DO)" [PMID:24079343 "DO"] synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [] synonym: "CREB3L1-related condition" BROAD [] synonym: "OI16" EXACT [] synonym: "osteogenesis imperfecta type XVI" EXACT [] xref: MIM:616229 xref: MONDO:0014544 is_a: DOID:12347 ! osteogenesis imperfecta created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110346 name: osteogenesis imperfecta type 10 alt_id: OMIA:001483 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. (DO)" [PMID:20188343 "DO"] synonym: "OI10" EXACT [] synonym: "OI, type X" EXACT [] synonym: "osteogenesis imperfecta type X" EXACT [] synonym: "SERPINH1-RELATED CONDITION" BROAD [] xref: MIM:613848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110347 name: osteogenesis imperfecta type 15 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. (DO)" [PMID:23499309 "DO"] synonym: "OI15" EXACT [] synonym: "OI, type XV" EXACT [] synonym: "osteogenesis imperfecta type XV" EXACT [] synonym: "WNT1-related condition" BROAD [] xref: MIM:615220 xref: MONDO:0014086 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110348 name: osteogenesis imperfecta type 12 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. (DO)" [PMID:20579626 "DO"] synonym: "OI12" EXACT [] synonym: "OI, TYPE XII" EXACT [] synonym: "Osteogenesis Imperfecta, Type XII" EXACT [] synonym: "SP7-related condition" BROAD [] xref: MIM:613849 xref: MONDO:0013460 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110349 name: osteogenesis imperfecta type 9 alt_id: MIM:259440 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)" [PMID:19781681 "DO"] synonym: "OI9" EXACT [] synonym: "OI, Type IX" EXACT [] synonym: "Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen" EXACT [] synonym: "osteogenesis imperfecta type IX" EXACT [] synonym: "PPIB-RELATED CONDITION" EXACT [] xref: GARD:10619 xref: MESH:C564921 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110350 name: osteogenesis imperfecta type 6 alt_id: MIM:613982 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. (DO)" [PMID:21353196 "DO"] synonym: "OI6" EXACT [] synonym: "OI, type VI" EXACT [] synonym: "osteogenesis imperfecta, type VI" EXACT [] synonym: "SERPINF1-RELATED CONDITION" EXACT [] xref: GARD:8700 xref: MESH:C536047 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110351 name: osteogenesis imperfecta type 11 alt_id: RDO:9000622 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. (DO)" [PMID:20362275 "DO"] synonym: "FKBP10-RELATED CONDITION" BROAD [] synonym: "OI11" EXACT [] synonym: "OI, TYPE XI" EXACT [] synonym: "osteogenesis imperfecta type XI" EXACT [] xref: MIM:610968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110352 name: retinitis pigmentosa 59 def: "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. (DO)" [PMID:21295283 "DO"] synonym: "CDG1BB" RELATED [] synonym: "congenital disorder of glycosylation type 1BB" RELATED [] synonym: "congenital disorder of glycosylation type IBB" RELATED [] synonym: "DHDDS-CDG" RELATED [] synonym: "DHDDS-RELATED CONDITION" BROAD [] synonym: "RETINITIS PIGMENTOSA TYPE 59" EXACT [] synonym: "RP59" EXACT [] xref: MIM:613861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110353 name: retinitis pigmentosa 20 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. (DO)" [PMID:9326941 "DO"] synonym: "RP20" EXACT [] synonym: "RPE65-related disorder" BROAD [] xref: MESH:C566718 xref: MIM:613794 xref: MONDO:0013425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110354 name: retinitis pigmentosa 19 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. (DO)" [PMID:9425888 "DO"] synonym: "RP19" EXACT [] xref: MESH:C566637 xref: MIM:601718 xref: MONDO:0010055 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110355 name: retinitis pigmentosa 32 alt_id: MIM:609913 def: "A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13. (DO)" [PMID:16189710 "DO"] synonym: "RP32" EXACT [] xref: MESH:C563689 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110356 name: retinitis pigmentosa 18 alt_id: MIM:601414 alt_id: RDO:0012611 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)" [PMID:11773002 "DO"] synonym: "PRPF3-RELATED CONDITION" EXACT [] synonym: "RP18" EXACT [] xref: MESH:C563320 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110357 name: retinitis pigmentosa 35 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. (DO)" [PMID:16199541 "DO"] synonym: "RP35" EXACT [] synonym: "SEMA4A-RELATED CONDITION" BROAD [] xref: MESH:C565206 xref: MIM:610282 xref: MONDO:0012463 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110358 name: retinitis pigmentosa 12 alt_id: MIM:600105 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)" [PMID:10508521 "DO"] synonym: "retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium" EXACT [] synonym: "RP12" EXACT [] synonym: "RP WITH OR WITHOUT PPRPE" EXACT [] synonym: "RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM" EXACT [] xref: MESH:C563999 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110359 name: retinitis pigmentosa 67 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. (DO)" [PMID:24043777 "DO"] synonym: "NEK2-RELATED CONDITION" EXACT [] synonym: "RP67" EXACT [] xref: MIM:615565 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110360 name: retinitis pigmentosa 39 def: "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. (DO)" [PMID:12427073 "DO"] synonym: "RP39" EXACT [] synonym: "USH2A-RELATED CONDITION" BROAD [] synonym: "USH2A-RELATED DISORDER" BROAD [] xref: MIM:613809 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110361 name: retinitis pigmentosa 75 def: "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. (DO)" [PMID:26720455 "DO"] synonym: "AGBL5-RELATED CONDITION" EXACT [] synonym: "RP75" EXACT [] xref: MIM:617023 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110362 name: retinitis pigmentosa 58 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. (DO)" [PMID:20227676 "DO"] synonym: "RP58" EXACT [] synonym: "ZNF513-RELATED CONDITION" EXACT [] xref: ICD10CM:H35.5 xref: MIM:613617 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110363 name: retinitis pigmentosa 71 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. (DO)" [PMID:25168386 "DO"] synonym: "RP71" EXACT [] xref: MIM:616394 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110364 name: retinitis pigmentosa 54 alt_id: OMIA:001575 def: "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. (DO)" [PMID:20398886 "DO"] synonym: "CONE-ROD DYSTROPHY 23" RELATED [] synonym: "PCARE-RELATED CONDITION" BROAD [] synonym: "Rod-cone dysplasia 4" EXACT [] synonym: "RP54" EXACT [] xref: MIM:613428 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110365 name: retinitis pigmentosa 28 def: "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. (DO)" [PMID:20705278 "DO"] synonym: "FAM161A-related condition" EXACT [] synonym: "retinitis pigmentosa type 28" EXACT [] synonym: "RP28" EXACT [] xref: MIM:606068 xref: MONDO:0011630 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110366 name: retinitis pigmentosa 33 alt_id: MIM:610359 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. (DO)" [PMID:19878916 "DO"] synonym: "RP33" EXACT [] synonym: "SNRNP200-RELATED CONDITION" EXACT [] xref: MESH:C563676 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110367 name: retinitis pigmentosa 38 def: "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. (DO)" [PMID:11062461 "DO"] synonym: "MERTK-related condition" BROAD [] synonym: "progressive retinal atrophy, MERTK-related" EXACT [] synonym: "ROD-CONE DYSTROPHY, CHILDHOOD-ONSET" EXACT [] synonym: "RP38" EXACT [] xref: MIM:613862 xref: MONDO:0013469 xref: OMIA:001932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110368 name: retinitis pigmentosa 26 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. (DO)" [PMID:14681825 "DO"] synonym: "CERKL-RELATED DISORDER" EXACT [] synonym: "RETINITIS PIGMENTOSA TYPE 26" EXACT [] synonym: "RP26" EXACT [] xref: MESH:C564249 xref: MIM:608380 xref: MONDO:0012024 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110369 name: retinitis pigmentosa 47 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. (DO)" [PMID:9565049 "DO"] synonym: "RP47" EXACT [] xref: MIM:613758 xref: MONDO:0013407 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110370 name: retinitis pigmentosa 55 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. (DO)" [PMID:19956407 "DO"] synonym: "ARL6-RELATED DISORDER" BROAD [] synonym: "RP55" EXACT [] xref: MIM:613575 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110371 name: retinitis pigmentosa 56 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. (DO)" [PMID:20673862 "DO"] synonym: "IMPG2-related condition" BROAD [] synonym: "IMPG2-RELATED RECESSIVE RETINOPATHY" BROAD [] synonym: "RP56" EXACT [] xref: MIM:613581 xref: MONDO:0013314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110372 name: retinitis pigmentosa 4 alt_id: MIM:613731 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. (DO)" [PMID:2137202 "DO"] synonym: "retinitis pigmentosa 4, autosomal recessive" NARROW [] synonym: "rhodopsin-related retinitis pigmentosa" EXACT [] synonym: "RP4" EXACT [] xref: MESH:C566706 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110373 name: retinitis pigmentosa 61 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. (DO)" [PMID:21310491 "DO"] synonym: "CLRN1-RELATED CONDITION" BROAD [] synonym: "RP61" EXACT [] xref: MIM:614180 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110374 name: retinitis pigmentosa 68 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. (DO)" [PMID:24670872 "DO"] synonym: "RP68" EXACT [] synonym: "SLC7A14-RELATED CONDITION" EXACT [] xref: MIM:615725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110375 name: retinitis pigmentosa 40 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)" [PMID:8394174 "DO"] synonym: "PDE6B-RELATED CONDITION" BROAD [] synonym: "PDE6B-RELATED DISORDER" BROAD [] synonym: "Rod-cone dysplasia 1" EXACT [] synonym: "Rod-cone dysplasia 1a" EXACT [] synonym: "RP40" EXACT [] xref: MIM:613801 xref: MONDO:0013429 xref: OMIA:000882 xref: OMIA:001669 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110376 name: retinitis pigmentosa 41 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. (DO)" [PMID:10587575 "DO"] synonym: "Retinal Degeneration, Autosomal Recessive, Prominin-Related" EXACT [] synonym: "RP41" EXACT [] xref: MESH:C567422 xref: MIM:612095 xref: MONDO:0012796 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110377 name: retinitis pigmentosa 49 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. (DO)" [PMID:7479749 "DO"] synonym: "CNGA1-related condition" BROAD [] synonym: "CNGA1-RELATED RETINOPATHY" EXACT [] synonym: "progressive retinal atrophy, CNGA1-related" EXACT [] synonym: "progressive retinal atrophy, due to CNGA1" EXACT [] synonym: "RP49" EXACT [] xref: MIM:613756 xref: MONDO:0013405 xref: OMIA:001977 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110378 name: retinitis pigmentosa 29 alt_id: MIM:612165 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. (DO)" [PMID:11381043 "DO"] synonym: "RP29" EXACT [] xref: MESH:C567403 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110379 name: retinitis pigmentosa 43 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. (DO)" [PMID:7493036 "DO"] synonym: "PDE6A-RELATED CONDITION" EXACT [] synonym: "Rod-cone dysplasia 3" EXACT [] synonym: "RP43" EXACT [] xref: MIM:613810 xref: MONDO:0013437 xref: OMIA:001314 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110380 name: retinitis pigmentosa 62 def: "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. (DO)" [PMID:21825139 "DO"] synonym: "MAK-RELATED CONDITION" EXACT [] synonym: "MAK-RELATED RETINOPATHY" EXACT [] synonym: "RP62" EXACT [] xref: MIM:614181 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110381 name: retinitis pigmentosa 14 alt_id: MIM:600132 alt_id: RDO:0013099 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. (DO)" [PMID:9462751 "DO"] synonym: "Retinitis Pigmentosa, Juvenile, TULP1-Related" EXACT [] synonym: "RP14" EXACT [] synonym: "TULP1-RELATED CONDITION" BROAD [] xref: MESH:C563992 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110382 name: retinitis pigmentosa 48 def: "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. (DO)" [PMID:15452722 "DO"] synonym: "RP48" EXACT [] xref: MIM:613827 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110383 name: retinitis pigmentosa 7 alt_id: MESH:C564284 alt_id: MESH:C567263 alt_id: MESH:C567264 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. (DO)" [PMID:1749427 "DO"] synonym: "LCA18" NARROW [] synonym: "Leber congenital amaurosis 18" NARROW [] synonym: "retinitis pigmentosa 7, digenic" EXACT [] synonym: "retinitis pigmentosa 7 with Bull's-eye maculopathy" EXACT [] synonym: "ROM1-RELATED CONDITION" EXACT [] synonym: "RP7" EXACT [] xref: MIM:608133 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110384 name: retinitis pigmentosa 25 alt_id: MIM:602772 def: "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. (DO)" [PMID:18836446 "DO"] synonym: "EYS-RELATED CONDITION" EXACT [] synonym: "retinitis pigmentosa type 25" EXACT [] synonym: "RP25" EXACT [] xref: MESH:C566425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110385 name: retinitis pigmentosa 63 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. (DO)" [PMID:22083234 "DO"] synonym: "RP63" EXACT [] xref: MIM:614494 xref: MONDO:0013780 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:0110386 name: retinitis pigmentosa 42 alt_id: MIM:612943 def: "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. (DO)" [PMID:19520207 "DO"] synonym: "KLHL7-RELATED CONDITION" BROAD [] synonym: "RP42" EXACT [] xref: MESH:C567854 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110387 name: retinitis pigmentosa 9 alt_id: MIM:180104 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. (DO)" [PMID:12032732 "DO"] synonym: "RP9" EXACT [] xref: MESH:C566716 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110388 name: retinitis pigmentosa 10 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. (DO)" [PMID:11875050 "DO"] synonym: "IMPDH1-related condition" BROAD [] synonym: "RP10" EXACT [] xref: MESH:C566715 xref: MIM:180105 xref: MONDO:0008379 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110389 name: retinitis pigmentosa 73 def: "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. (DO)" [PMID:25859010 "DO"] synonym: "RP73" EXACT [] xref: MIM:616544 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110390 name: retinitis pigmentosa 1 alt_id: MIM:180100 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)" [PMID:10391211 "DO"] synonym: "RP1" EXACT [] synonym: "RP1-RELATED CONDITION" EXACT [] synonym: "RP1-RELATED RECESSIVE RETINOPATHY" EXACT [] synonym: "RP1-RELATED RETINAL DYSTROPHY" EXACT [] xref: MESH:C538365 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110391 name: retinitis pigmentosa 31 alt_id: MIM:609923 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. (DO)" [PMID:17924349 "DO"] synonym: "RP31" EXACT [] synonym: "TOPORS-RELATED CONDITION" EXACT [] synonym: "TOPORS-RELATED RETINOPATHY" EXACT [] xref: MESH:C563685 xref: RDO:0012878 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110392 name: retinitis pigmentosa 70 alt_id: RDO:9001537 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. (DO)" [PMID:24419317 "DO"] synonym: "PRPF4-RELATED CONDITION" EXACT [] synonym: "RP70" EXACT [] xref: MIM:615922 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110393 name: retinitis pigmentosa 66 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. (DO)" [PMID:19074801 "DO"] synonym: "RBP3-related condition" BROAD [] synonym: "RP66" EXACT [] xref: MIM:615233 xref: MONDO:0014093 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110394 name: retinitis pigmentosa 44 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. (DO)" [PMID:10581022 "DO"] synonym: "RGR-related condition" BROAD [] synonym: "RP44" EXACT [] xref: MIM:613769 xref: MONDO:0013414 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110395 name: retinitis pigmentosa 72 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. (DO)" [PMID:25882705 "DO"] synonym: "RP72" EXACT [] synonym: "ZNF408-RELATED CONDITION" BROAD [] xref: MIM:616469 xref: MONDO:0014653 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110396 name: retinitis pigmentosa 50 alt_id: MIM:613194 def: "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. (DO)" [PMID:19853238 "DO"] synonym: "concentric retinitis pigmentosa" NARROW [] synonym: "RP50" EXACT [] xref: MESH:C567712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110397 name: retinitis pigmentosa 27 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. (DO)" [PMID:10192380 "DO"] synonym: "autosomal recessive retinal degeneration, clumped pigment type" NARROW [] synonym: "NRL-RELATED CONDITION" EXACT [] synonym: "RP27" EXACT [] xref: MESH:C563526 xref: MIM:613750 xref: MONDO:0013402 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110398 name: retinitis pigmentosa 51 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. (DO)" [PMID:20451172 "DO"] synonym: "RP51" EXACT [] synonym: "TTC8-RELATED CONDITION" BROAD [] xref: MIM:613464 xref: MONDO:0013274 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110399 name: retinitis pigmentosa 37 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. (DO)" [PMID:17564971 "DO"] synonym: "NR2E3-RELATED CONDITION" BROAD [] synonym: "NR2E3-RELATED DISORDER" BROAD [] synonym: "NR2E3-RELATED DISORDERS" BROAD [] synonym: "RP37" EXACT [] xref: MESH:C567005 xref: MIM:611131 xref: MONDO:0012625 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110400 name: retinitis pigmentosa 22 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. (DO)" [PMID:9545639 "DO"] synonym: "RP22" EXACT [] xref: MIM:602594 xref: RDO:0016050 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110401 name: retinitis pigmentosa 74 def: "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. (DO)" [PMID:25541840 "DO"] synonym: "BBS2-RELATED CONDITION" BROAD [] synonym: "BBS2-RELATED DISORDER" BROAD [] synonym: "BBS2-RELATED DISORDERS" BROAD [] synonym: "RP74" EXACT [] xref: MIM:616562 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110402 name: retinitis pigmentosa 45 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. (DO)" [PMID:11379879 "DO"] synonym: "CNGB1-RELATED CONDITION" EXACT [] synonym: "CNGB1-RELATED RETINOPATHY" EXACT [] synonym: "RP45" EXACT [] xref: MIM:613767 xref: MONDO:0013413 xref: OMIA:000830 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110403 name: retinitis pigmentosa 13 alt_id: MIM:600059 def: "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. (DO)" [PMID:11468273 "DO"] synonym: "PRPF8-RELATED CONDITION" EXACT [] synonym: "RP13" EXACT [] xref: MESH:C564008 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110404 name: retinitis pigmentosa 17 alt_id: MIM:600852 def: "A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. (DO)" [PMID:33022222 "DO"] synonym: "CA4-RELATED CONDITION" EXACT [] synonym: "RP17" EXACT [] xref: MESH:C563437 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110405 name: retinitis pigmentosa 36 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. (DO)" [PMID:16938425 "DO"] synonym: "RP36" EXACT [] xref: MESH:C566431 xref: MIM:610599 xref: OMIA:001298 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110406 name: retinitis pigmentosa 30 def: "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. (DO)" [PMID:14609921 "DO"] synonym: "FSCN2-related condition" EXACT [] synonym: "macular degeneration" NARROW [] synonym: "RP30" EXACT [] xref: MESH:C564310 xref: MIM:607921 xref: MONDO:0011935 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110407 name: retinitis pigmentosa 57 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. (DO)" [PMID:20655036 "DO"] synonym: "PDE6G retinitis pigmentosa" EXACT [] synonym: "RP57" EXACT [] xref: MIM:613582 xref: MONDO:0013315 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110408 name: retinitis pigmentosa 11 alt_id: MIM:600138 alt_id: RDO:0013098 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. (DO)" [PMID:11545739 "DO"] synonym: "PRPF31-RELATED CONDITION" EXACT [] synonym: "RP11" EXACT [] xref: MESH:C563991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110409 name: retinitis pigmentosa 46 alt_id: MIM:612572 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. (DO)" [PMID:18806796 "DO"] synonym: "autosomal recessive retinitis pigmentosa, IDH3B-related" EXACT [] synonym: "IDH3B-RELATED CONDITION" EXACT [] synonym: "RP46" EXACT [] xref: MESH:C567249 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110410 name: retinitis pigmentosa 69 def: "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. (DO)" [PMID:24680887 "DO"] synonym: "KIZ-related condition" EXACT [] synonym: "KIZ-RELATED RETINOPATHY" EXACT [] synonym: "RP69" EXACT [] xref: MIM:615780 xref: MONDO:0014345 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110411 name: retinitis pigmentosa 60 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. (DO)" [PMID:21549338 "DO"] synonym: "PRPF6-related condition" BROAD [] synonym: "RP60" EXACT [] xref: MIM:613983 xref: MONDO:0013516 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110412 name: retinitis pigmentosa 23 alt_id: RDO:0016049 def: "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. (DO)" [PMID:22619378 "DO"] synonym: "RP23" EXACT [] xref: MIM:300424 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110413 name: retinitis pigmentosa 6 alt_id: MIM:312612 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. (DO)" [PMID:2300556 "DO"] synonym: "Retinitis Pigmentosa, X-Linked Recessive, 6" EXACT [] synonym: "RP6" EXACT [] xref: MESH:C564065 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110414 name: retinitis pigmentosa 3 alt_id: MIM:300029 alt_id: OMIA:000831 alt_id: OMIA:001518 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. (DO)" [PMID:8673101 "DO"] synonym: "choroidoretinal degeneration with retinal reflex in heterozygous women" EXACT [] synonym: "Progressive retinal atrophy, X-linked, type 1" EXACT [] synonym: "Progressive retinal atrophy, X-linked, type 2" EXACT [] synonym: "retinitis pigmentosa 15" EXACT [] synonym: "RP15" EXACT [] synonym: "RP3" EXACT [] synonym: "X-linked cone-rod degeneration" EXACT [] xref: GARD:10381 xref: MESH:C564520 xref: MONDO:0010227 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110415 name: retinitis pigmentosa 2 alt_id: MIM:312600 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. (DO)" [PMID:9697692 "DO"] synonym: "RP2" EXACT [] synonym: "RP2-RELATED CONDITION" EXACT [] xref: MESH:C567523 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110416 name: retinitis pigmentosa 24 alt_id: RDO:0016048 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. (DO)" [PMID:10690843 "DO"] synonym: "RP24" EXACT [] xref: MIM:300155 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110417 name: retinitis pigmentosa 34 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. (DO)" [PMID:16740911 "DO"] synonym: "RP34" EXACT [] xref: MESH:C564475 xref: MIM:300605 xref: MONDO:0010374 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110418 name: retinitis pigmentosa Y-linked alt_id: MIM:400004 def: "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. (DO)" [PMID:7493160 "DO"] synonym: "RPY" EXACT [] xref: MESH:C564035 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110419 name: retinitis pigmentosa with or without situs inversus def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. (DO)" [PMID:23849777 "DO"] synonym: "ARL2BP-RELATED CONDITION" EXACT [] synonym: "retinitis pigmentosa 82" EXACT [] synonym: "retinitis pigmentosa 82 with or without situs inversus" EXACT [] synonym: "retinitis pigmentosa without situs inversus" NARROW [] synonym: "RP82" EXACT [] xref: MIM:615434 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110420 name: dominant pericentral pigmentary retinopathy alt_id: MIM:180210 def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. (DO)" [PMID:3618160 "DO"] xref: MESH:C566713 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:8499 ! night blindness is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:0110421 name: late-adult onset retinitis pigmentosa alt_id: MIM:268025 alt_id: RDO:0013665 def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. (DO)" [PMID:1424244 "DO"] synonym: "senile retinitis pigmentosa" EXACT [] xref: MESH:C564840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:0110422 name: autosomal recessive pericentral pigmentary retinopathy alt_id: MIM:268060 def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. (DO)" [PMID:3189470 "DO"] synonym: "pericentral retinitis pigmentosa" EXACT [] xref: MESH:C564838 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110423 name: dilated cardiomyopathy 1C def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. (DO)" [PMID:14662268 "DO"] synonym: "CMD1C" EXACT [] synonym: "CMDC1" EXACT [] synonym: "CMH24" RELATED [] synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT [] synonym: "familial hypertrophic cardiomyopathy 24" RELATED [] synonym: "LDB3-related condition" BROAD [] synonym: "left ventricular noncompaction 3" RELATED [] synonym: "LVNC3" RELATED [] xref: MESH:C563307 xref: MIM:601493 xref: MONDO:0011094 xref: NCI:C170436 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110424 name: dilated cardiomyopathy 1CC alt_id: MIM:613122 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)" [PMID:19881492 "DO"] synonym: "CMD1CC" EXACT [] synonym: "NEXN-RELATED CONDITION" BROAD [] xref: MESH:C567733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110425 name: dilated cardiomyopathy 1A def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)" [PMID:10580070 "DO"] synonym: "CDCD1" EXACT [] synonym: "CMD1A" EXACT [] synonym: "dilated cardiomyopathy, LMNA" EXACT [] synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [] synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [] xref: MIM:115200 xref: MONDO:0007269 xref: NCI:C165596 xref: ORDO:300751 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:9006138 ! Laminopathies created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110426 name: dilated cardiomyopathy 1D alt_id: MIM:601494 alt_id: RDO:0012603 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. (DO)" [PMID:11106718 "DO"] synonym: "CMD1D" EXACT [] synonym: "LEFT VENTRICULAR NONCOMPACTION 6" NARROW [] synonym: "LVNC6" NARROW [] xref: MESH:C563306 xref: NCI:C198599 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110427 name: dilated cardiomyopathy 1V def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. (DO)" [PMID:17186461 "DO"] synonym: "CMD1V" EXACT [] synonym: "PSEN2-RELATED DISORDER" BROAD [] xref: MESH:C566856 xref: MIM:613697 xref: MONDO:0013373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110428 name: dilated cardiomyopathy 1AA alt_id: MIM:612158 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. (DO)" [PMID:14567970 "DO"] synonym: "CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION" EXACT [] synonym: "CMD1AA" EXACT [] synonym: "CMH23" NARROW [] synonym: "familial hypertrophic cardiomyopathy 23" NARROW [] synonym: "familial hypertrophic cardiomyopathy 23 with or without ventricular noncompaction" NARROW [] xref: MESH:C567407 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110429 name: dilated cardiomyopathy 1H alt_id: MIM:604288 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. (DO)" [PMID:10486326 "DO"] synonym: "CMD1H" EXACT [] synonym: "dilated cardiomyopathy with conduction defect" EXACT [] xref: MESH:C536277 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110430 name: dilated cardiomyopathy 1G alt_id: MIM:604145 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)" [PMID:11788824 "DO"] synonym: "CMD1G" EXACT [] xref: MESH:C565824 xref: NCI:C182078 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110431 name: dilated cardiomyopathy 1I def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. (DO)" [PMID:10430757 "DO"] synonym: "CMD1I" EXACT [] xref: MESH:C565752 xref: MIM:604765 xref: MONDO:0011482 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110432 name: dilated cardiomyopathy 1NN def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. (DO)" [PMID:24777450 "DO"] synonym: "CMD1NN" EXACT [] xref: MIM:615916 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110433 name: dilated cardiomyopathy 1E def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. (DO)" [PMID:15466643 "DO"] synonym: "cardiomyopathy, dilated, with conduction disorder and arrhythmia" EXACT [] synonym: "CDCD2" EXACT [] synonym: "CMD1E" EXACT [] synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [] xref: MESH:C563384 xref: MIM:601154 xref: MONDO:0011003 xref: NCI:C212862 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110434 name: dilated cardiomyopathy 1Z def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. (DO)" [PMID:15542288 "DO"] synonym: "CMD1Z" EXACT [] synonym: "TNNC1-RELATED CONDITION" BROAD [] xref: MESH:C567506 xref: MIM:611879 xref: MONDO:0012745 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110435 name: dilated cardiomyopathy 1GG def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. (DO)" [PMID:20551992 "DO"] synonym: "CMD1GG" EXACT [] xref: MIM:613642 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110436 name: dilated cardiomyopathy 1L alt_id: MIM:606685 def: "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. (DO)" [PMID:10974018 "DO"] synonym: "CMD1L" EXACT [] xref: MESH:C564679 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110437 name: dilated cardiomyopathy 1K alt_id: MIM:605582 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. (DO)" [PMID:11085912 "DO"] synonym: "CMD1K" EXACT [] xref: MESH:C565320 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110438 name: dilated cardiomyopathy 1JJ def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. (DO)" [PMID:17646580 "DO"] synonym: "CMD1JJ" EXACT [] synonym: "LAMA4-RELATED CONDITION" EXACT [] xref: MIM:615235 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110439 name: dilated cardiomyopathy 1P alt_id: MIM:609909 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. (DO)" [PMID:12610310 "DO"] synonym: "CMD1P" EXACT [] synonym: "PLN-RELATED CONDITION" BROAD [] xref: MESH:C563690 xref: NCI:C173625 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110440 name: dilated cardiomyopathy 1J alt_id: MIM:605362 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. (DO)" [PMID:15735644 "DO"] synonym: "CMD1J" EXACT [] synonym: "dilated cardiomyopathy with sensorineural hearing loss, autosomal dominant" EXACT [] synonym: "EYA4-RELATED CONDITION" BROAD [] synonym: "EYA4-related disorder" BROAD [] synonym: "EYA4-related disorders" BROAD [] synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [] synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [] synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [] synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [] xref: MESH:C565337 xref: ORDO:217622 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110441 name: dilated cardiomyopathy 2B def: "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. (DO)" [PMID:21965549 "DO"] synonym: "CMD2B" EXACT [] synonym: "GATAD1-related condition" BROAD [] xref: MIM:614672 xref: MONDO:0013848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110442 name: dilated cardiomyopathy 1Q alt_id: MIM:609915 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. (DO)" [PMID:16228230 "DO"] synonym: "CMD1Q" EXACT [] xref: MESH:C563688 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110443 name: dilated cardiomyopathy 1B alt_id: MIM:600884 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. (DO)" [PMID:7573045 "DO"] synonym: "CMD1B" EXACT [] synonym: "CMPD1" EXACT [] synonym: "familial dilated cardiomyopathy 1" EXACT [] synonym: "familial hypokinetic dilated cardiomyopathy" EXACT [] synonym: "FDC1" EXACT [] xref: MESH:C536231 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110444 name: dilated cardiomyopathy 1X alt_id: MIM:611615 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. (DO)" [PMID:17036286 "DO"] synonym: "CMD1X" EXACT [] synonym: "dilated cardiomyopathy, with mild or no proximal muscle weakness" EXACT [] xref: MESH:C566907 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110445 name: dilated cardiomyopathy 1KK def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. (DO)" [PMID:18006477 "DO"] synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22" RELATED [] synonym: "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4" RELATED [] synonym: "CMD1KK" EXACT [] synonym: "CMH22" RELATED [] synonym: "MYPN-RELATED CONDITION" BROAD [] synonym: "RCM4" RELATED [] xref: MIM:615248 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110446 name: dilated cardiomyopathy 1W def: "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. (DO)" [PMID:11815424 "DO"] synonym: "CMD1W" EXACT [] synonym: "VCL-RELATED CONDITION" BROAD [] xref: MESH:C566954 xref: MIM:611407 xref: MONDO:0012667 xref: NCI:C187983 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110447 name: dilated cardiomyopathy 1DD alt_id: MIM:613172 alt_id: RDO:0015714 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)" [PMID:19712804 "DO"] synonym: "CMD1DD" EXACT [] synonym: "RBM20-RELATED CONDITION" EXACT [] xref: MESH:C567725 xref: NCI:C174435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110448 name: dilated cardiomyopathy 1HH alt_id: RDO:9000821 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. (DO)" [PMID:21353195 "DO"] synonym: "BAG3-RELATED CONDITION" BROAD [] synonym: "CMD1HH" EXACT [] xref: MIM:613881 xref: NCI:C192082 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110449 name: dilated cardiomyopathy 1M alt_id: MIM:607482 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)" [PMID:12507422 "DO", PMID:14567970 "DO"] synonym: "CMD1M" EXACT [] synonym: "CSRP3-RELATED DISORDER" BROAD [] xref: MESH:C564390 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110450 name: dilated cardiomyopathy 1II def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. (DO)" [PMID:16483541 "DO"] synonym: "CMD1II" EXACT [] xref: MIM:615184 xref: NCI:C206099 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110451 name: dilated cardiomyopathy 1O alt_id: MIM:608569 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. (DO)" [PMID:15034580 "DO"] synonym: "CMD1O" EXACT [] synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [] xref: MESH:C563906 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110452 name: dilated cardiomyopathy 1T def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. (DO)" [PMID:16247757 "DO"] synonym: "CMD1T" EXACT [] xref: MESH:C566052 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110453 name: dilated cardiomyopathy 1EE alt_id: MIM:613252 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. (DO)" [PMID:15998695 "DO"] synonym: "CMD1EE" EXACT [] xref: MESH:C567683 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110454 name: dilated cardiomyopathy 1S alt_id: MIM:613426 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)" [PMID:11106718 "DO"] synonym: "biventricular noncompaction cardiomyopathy" NARROW [] synonym: "CMD1S" EXACT [] synonym: "left ventricular noncompaction 5" RELATED [] synonym: "LVNC5" RELATED [] xref: ICD10CM:I42.0 xref: MESH:C563538 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060480 ! left ventricular noncompaction is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110455 name: dilated cardiomyopathy 1U def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. (DO)" [PMID:17186461 "DO"] synonym: "CMD1U" EXACT [] xref: MESH:C566296 xref: MIM:613694 xref: MONDO:0013371 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110456 name: dilated cardiomyopathy 1R def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. (DO)" [PMID:17611253 "DO"] synonym: "CMD1R" EXACT [] xref: MIM:613424 xref: MONDO:0013261 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110457 name: dilated cardiomyopathy 1Y alt_id: MIM:611878 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. (DO)" [PMID:11273725 "DO"] synonym: "CMD1Y" EXACT [] synonym: "LEFT VENTRICULAR NONCOMPACTION 9" NARROW [] synonym: "LVNC9" NARROW [] synonym: "TPM1-RELATED CONDITION" BROAD [] xref: MESH:C567507 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110458 name: dilated cardiomyopathy 1BB alt_id: MIM:612877 def: "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. (DO)" [PMID:18678517 "DO"] synonym: "CMD1BB" EXACT [] synonym: "DSG2-RELATED CONDITION" BROAD [] synonym: "familial isolated dilated cardiomyopathy" EXACT [] xref: MESH:C567877 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110459 name: dilated cardiomyopathy 1FF alt_id: MIM:613286 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. (DO)" [PMID:19590045 "DO"] synonym: "CMD1FF" EXACT [] xref: MESH:C567654 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110460 name: dilated cardiomyopathy 2A alt_id: MIM:611880 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. (DO)" [PMID:15070570 "DO"] synonym: "CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE" EXACT [] synonym: "CMD2A" EXACT [] synonym: "dilated cardiomyopathy, autosomal recessive" NARROW [] xref: MESH:C567505 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110461 name: X-linked dilated cardiomyopathy alt_id: DOID:0060561 alt_id: DOID:0081164 alt_id: MIM:302045 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms "DO", PMID:29901616 "DO", PMID:3574369 "DO", PMID:8361506 "DO"] synonym: "CARDIOMYOPATHY, DILATED, X-LINKED" EXACT [] synonym: "CMD3B" EXACT [] synonym: "dilated cardiomyopathy 3B" EXACT [] synonym: "DMD-associated dilated cardiomyopathy" EXACT [] synonym: "DMD-related dilated cardiomyopathy" EXACT [] synonym: "XLCM" EXACT [] synonym: "X-LINKED CARDIOMYOPATHIES" EXACT [] xref: MESH:C580047 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110462 name: autosomal recessive nonsyndromic deafness 101 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. (DO)" [PMID:24619944 "DO"] synonym: "autosomal recessive deafness 101" EXACT [] synonym: "DFNB101" EXACT [] synonym: "GRXCR2-related condition" EXACT [] xref: MIM:615837 xref: MONDO:0014363 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110463 name: autosomal recessive nonsyndromic deafness 102 alt_id: RDO:9001426 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. (DO)" [PMID:24741995 "DO"] synonym: "autosomal recessive deafness 102" EXACT [] synonym: "DFNB102" EXACT [] synonym: "EPS8-RELATED CONDITION" EXACT [] xref: MIM:615974 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110464 name: autosomal recessive nonsyndromic deafness 103 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. (DO)" [PMID:24781754 "DO"] synonym: "autosomal recessive deafness 103" EXACT [] synonym: "CLIC5-related condition" BROAD [] synonym: "DFNB103" EXACT [] xref: MIM:616042 xref: MONDO:0014469 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110465 name: autosomal recessive nonsyndromic deafness 104 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. (DO)" [PMID:24958875 "DO"] synonym: "autosomal recessive deafness 104" EXACT [] synonym: "DFNB104" EXACT [] synonym: "RIPOR2-RELATED CONDITION" BROAD [] xref: MIM:616515 xref: MONDO:0014675 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110467 name: autosomal recessive nonsyndromic deafness 12 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. (DO)" [PMID:11090341 "DO"] synonym: "ATP2B2-related condition" BROAD [] synonym: "ATP2B2-related disorder" BROAD [] synonym: "autosomal recessive deafness 12" EXACT [] synonym: "autosomal recessive deafness 12, modifier of" RELATED [] synonym: "DFNB12" EXACT [] xref: MESH:C563327 xref: MIM:601386 xref: MONDO:0011067 xref: NCI:C201586 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110468 name: autosomal recessive nonsyndromic deafness 13 alt_id: MIM:603098 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. (DO)" [PMID:9781028 "DO"] synonym: "autosomal recessive deafness 13" EXACT [] synonym: "DFNB13" EXACT [] xref: MESH:C566410 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110469 name: autosomal recessive nonsyndromic deafness 14 alt_id: MIM:603678 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. (DO)" [PMID:9887371 "DO"] synonym: "autosomal recessive deafness 14" EXACT [] synonym: "DFNB14" EXACT [] xref: MESH:C566344 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110470 name: autosomal recessive nonsyndromic deafness 15 alt_id: MIM:601869 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. (DO)" [PMID:21326233 "DO"] synonym: "autosomal recessive deafness 15" EXACT [] synonym: "autosomal recessive deafness 72" EXACT [] synonym: "autosomal recessive deafness 95" EXACT [] synonym: "DFMB15" EXACT [] synonym: "DFNB15" EXACT [] synonym: "DFNB72" EXACT [] synonym: "DFNB95" EXACT [] synonym: "GIPC3-RELATED CONDITION" EXACT [] xref: MESH:C566611 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110471 name: autosomal recessive nonsyndromic deafness 16 alt_id: MIM:603720 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. (DO)" [PMID:11687802 "DO"] synonym: "autosomal recessive deafness 16" EXACT [] synonym: "DFNB16" EXACT [] synonym: "STRC-RELATED CONDITION" EXACT [] xref: MESH:C566339 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110472 name: autosomal recessive nonsyndromic deafness 17 alt_id: MIM:603010 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. (DO)" [PMID:15293785 "DO"] synonym: "autosomal recessive deafness 17" EXACT [] synonym: "DFNB17" EXACT [] xref: MESH:C566418 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110473 name: autosomal recessive nonsyndromic deafness 18A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. (DO)" [PMID:12136232 "DO"] synonym: "autosomal recessive deafness 18A" EXACT [] synonym: "DFNB18A" EXACT [] synonym: "USH1C-RELATED CONDITION" BROAD [] xref: MESH:C566580 xref: MIM:602092 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:9005581 ! Autosomal Recessive Nonsyndromic Deafness 18 [Term] id: DOID:0110474 name: autosomal recessive nonsyndromic deafness 18B def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. (DO)" [PMID:23122587 "DO"] synonym: "autosomal recessive deafness 18B" EXACT [] synonym: "DFNB18B" EXACT [] synonym: "OTOG-RELATED CONDITION" EXACT [] xref: MIM:614945 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:9005581 ! Autosomal Recessive Nonsyndromic Deafness 18 [Term] id: DOID:0110475 name: autosomal recessive nonsyndromic deafness 1A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)" [PMID:9139825 "DO"] synonym: "autosomal recessive deafness 1A" EXACT [] synonym: "AUTOSOMAL RECESSIVE DEAFNESS TYPE 1A" EXACT [] synonym: "DEAFNESS, DIGENIC, GJB2/GJB3" NARROW [] synonym: "DEAFNESS, DIGENIC, GJB2/GJB6" NARROW [] synonym: "DFNB1A" EXACT [] xref: MESH:C567134 xref: MIM:220290 xref: MONDO:0009076 xref: NCI:C129022 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110476 name: autosomal recessive nonsyndromic deafness 1B alt_id: MIM:612645 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)" [PMID:11807148 "DO"] synonym: "autosomal recessive deafness 1B" EXACT [] synonym: "DFNB1B" EXACT [] xref: MESH:C567213 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110477 name: autosomal recessive nonsyndromic deafness 2 alt_id: MIM:600060 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)" [PMID:9171833 "DO"] synonym: "autosomal recessive deafness 2" EXACT [] synonym: "DFNB2" EXACT [] synonym: "Neurosensory Nonsyndromic Recessive Deafness 2" EXACT [] synonym: "NSRD2" EXACT [] xref: MESH:C564007 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110478 name: autosomal recessive nonsyndromic deafness 20 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. (DO)" [PMID:10196710 "DO"] synonym: "autosomal recessive deafness 20" EXACT [] synonym: "DFNB20" EXACT [] xref: MESH:C565828 xref: MIM:604060 xref: MONDO:0011392 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110479 name: autosomal recessive nonsyndromic deafness 21 alt_id: MIM:603629 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. (DO)" [PMID:9949200 "DO"] synonym: "autosomal recessive deafness 21" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 21" EXACT [] synonym: "DEAFNESS, NEUROSENSORY AUTOSOMAL RECESSIVE 21" EXACT [] synonym: "DFNB21" EXACT [] synonym: "TECTA-RELATED CONDITION" BROAD [] xref: MESH:C566353 xref: RDO:0014731 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110480 name: autosomal recessive nonsyndromic deafness 22 alt_id: MIM:607039 alt_id: RDO:0013526 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. (DO)" [PMID:11972037 "DO"] synonym: "autosomal recessive deafness 22" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 22" EXACT [] synonym: "DFNB22" EXACT [] synonym: "OTOA-RELATED CONDITION" EXACT [] xref: MESH:C564633 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110481 name: autosomal recessive nonsyndromic deafness 23 alt_id: MIM:609533 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. (DO)" [PMID:14570705 "DO"] synonym: "autosomal recessive deafness 23" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 23" EXACT [] synonym: "DFNB23" EXACT [] xref: MESH:C563705 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110482 name: autosomal recessive nonsyndromic deafness 24 alt_id: MIM:611022 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. (DO)" [PMID:17226784 "DO"] synonym: "autosomal recessive deafness 24" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 24" EXACT [] synonym: "DFNB24" EXACT [] synonym: "RDX-RELATED CONDITION" EXACT [] xref: MESH:C567027 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110483 name: autosomal recessive nonsyndromic deafness 25 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. (DO)" [PMID:20137778 "DO"] synonym: "autosomal recessive deafness 25" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 25" EXACT [] synonym: "DFNB25" EXACT [] synonym: "GRXCR1-related condition" BROAD [] xref: MIM:613285 xref: MONDO:0013210 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110484 name: autosomal recessive nonsyndromic deafness 26 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31. (DO)" [PMID:11101839 "DO"] synonym: "autosomal recessive deafness 26" EXACT [] synonym: "DFNB26" EXACT [] xref: MESH:C565329 xref: MIM:605428 xref: MONDO:0011553 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110485 name: autosomal recessive nonsyndromic deafness 27 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. (DO)" [PMID:11175289 "DO"] synonym: "autosomal recessive deafness 27" EXACT [] synonym: "DFNB27" EXACT [] xref: MESH:C565287 xref: MIM:605818 xref: MONDO:0011602 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110486 name: autosomal recessive nonsyndromic deafness 28 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. (DO)" [PMID:16385458 "DO"] synonym: "autosomal recessive deafness 28" EXACT [] synonym: "autosomal recessive nonsyndromic hearing loss 28" EXACT [] synonym: "DFNB28" EXACT [] synonym: "TRIOBP-related condition" EXACT [] xref: MESH:C565218 xref: MIM:609823 xref: MONDO:0012355 xref: NCI:C129023 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110487 name: autosomal recessive nonsyndromic deafness 29 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. (DO)" [PMID:11163249 "DO"] synonym: "autosomal recessive deafness 29" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 29" EXACT [] synonym: "CLDN14-RELATED CONDITION" EXACT [] synonym: "DFNB29" EXACT [] xref: MIM:614035 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110488 name: autosomal recessive nonsyndromic deafness 3 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. (DO)" [PMID:17851452 "DO"] synonym: "autosomal recessive deafness 3" EXACT [] synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" EXACT [] synonym: "autosomal recessive nonsyndromic hearing loss 3" EXACT [] synonym: "DFNB3" EXACT [] synonym: "MYO15A-related condition" BROAD [] synonym: "neurosensory nonsyndromic recessive deafness 3" EXACT [] synonym: "NRSD3" EXACT [] synonym: "NSRD3" EXACT [] xref: MESH:C563961 xref: MIM:600316 xref: MONDO:0010860 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110489 name: autosomal recessive nonsyndromic deafness 30 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. (DO)" [PMID:12032315 "DO"] synonym: "autosomal recessive deafness 30" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 30" EXACT [] synonym: "DFNB30" EXACT [] synonym: "MYO3A-RELATED CONDITION" EXACT [] xref: MESH:C564624 xref: MIM:607101 xref: MONDO:0011774 xref: ORDO:90636 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110490 name: autosomal recessive nonsyndromic deafness 31 alt_id: MIM:607084 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. (DO)" [PMID:12833159 "DO"] synonym: "autosomal recessive deafness 31" EXACT [] synonym: "DFNB31" EXACT [] synonym: "Whirler, Mouse, Homolog Of" EXACT [] synonym: "WHRN-RELATED CONDITION" BROAD [] xref: MESH:C564629 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110491 name: autosomal recessive nonsyndromic deafness 32 alt_id: DOID:0110466 alt_id: MIM:608653 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. (DO)" [PMID:12634867 "DO", PMID:27259055 "DO"] synonym: "autosomal recessive deafness 105" EXACT [] synonym: "autosomal recessive deafness 32" EXACT [] synonym: "autosomal recessive deafness 32, with or without immotile sperm" EXACT [] synonym: "autosomal recessive nonsyndromic deafness 105" EXACT [] synonym: "CDC14A-RELATED CONDITION" EXACT [] synonym: "DFNB105" EXACT [] synonym: "DFNB32" EXACT [] synonym: "hearing impairment infertile male syndrome" EXACT [] synonym: "HIIMS" EXACT [] xref: MESH:C563884 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110492 name: autosomal recessive nonsyndromic deafness 33 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. (DO)" [PMID:12080392 "DO"] synonym: "autosomal recessive deafness 33" EXACT [] synonym: "DFNB33" EXACT [] xref: MESH:C564602 xref: MIM:607239 xref: MONDO:0011799 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110493 name: autosomal recessive nonsyndromic deafness 35 alt_id: MIM:608565 def: "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. (DO)" [PMID:18179891 "DO"] synonym: "autosomal recessive deafness 35" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 35" EXACT [] synonym: "DFNB35" EXACT [] synonym: "ESRRB-RELATED CONDITION" EXACT [] xref: MESH:C563908 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110494 name: autosomal recessive nonsyndromic deafness 36 alt_id: MESH:C567219 alt_id: MIM:609006 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. (DO)" [PMID:15286153 "DO"] synonym: "autosomal recessive deafness 36" EXACT [] synonym: "autosomal recessive deafness 36, with or without vestibular involvement" EXACT [] synonym: "autosomal recessive deafness 36, without vestibular involvement" EXACT [] synonym: "DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT" RELATED [] synonym: "DFNB36" EXACT [] synonym: "ESPN-RELATED CONDITION" BROAD [] xref: MESH:C563815 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110495 name: autosomal recessive nonsyndromic deafness 37 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)" [PMID:12687499 "DO"] synonym: "autosomal recessive deafness 37" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 37" EXACT [] synonym: "DFNB37" EXACT [] synonym: "MYO6-related condition" BROAD [] xref: MESH:C564331 xref: MIM:607821 xref: MONDO:0011912 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110496 name: autosomal recessive nonsyndromic deafness 38 alt_id: MIM:608219 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. (DO)" [PMID:12890929 "DO"] synonym: "autosomal recessive deafness 38" EXACT [] synonym: "DFNB38" EXACT [] xref: MESH:C564273 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110497 name: autosomal recessive nonsyndromic deafness 39 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. (DO)" [PMID:19576567 "DO"] synonym: "autosomal recessive deafness 39" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 39" EXACT [] synonym: "DFNB39" EXACT [] synonym: "HGF-related condition" BROAD [] xref: MESH:C564265 xref: MIM:608265 xref: MONDO:0012003 xref: NCI:C129874 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110498 name: autosomal recessive nonsyndromic deafness 4 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. (DO)" [PMID:9500541 "DO"] synonym: "autosomal recessive deafness 4" EXACT [] synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [] synonym: "DFNB4" EXACT [] synonym: "dilated vestibular aqueduct" NARROW [] synonym: "DVA" NARROW [] synonym: "ENLARGED VESTIBULAR AQUEDUCT SYNDROME" EXACT [] synonym: "FOXI1-RELATED CONDITION" EXACT [] synonym: "KCNJ10-related disorder" BROAD [] synonym: "KCNJ10-related disorders" BROAD [] synonym: "neurosensory nonsyndromic recessive deafness 4" EXACT [] synonym: "NSRD4" EXACT [] synonym: "SLC26A4-RELATED CONDITION" BROAD [] synonym: "SLC26A4-RELATED DISORDER" BROAD [] xref: MESH:C566366 xref: MIM:600791 xref: MONDO:0010933 is_a: DOID:0050332 ! enlarged vestibular aqueduct is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110499 name: autosomal recessive nonsyndromic deafness 40 alt_id: MIM:608264 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. (DO)" [PMID:14512974 "DO"] synonym: "autosomal recessive deafness 40" EXACT [] synonym: "DFNB40" EXACT [] xref: MESH:C564266 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110500 name: autosomal recessive nonsyndromic deafness 42 alt_id: MIM:609646 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. (DO)" [PMID:21255762 "DO"] synonym: "autosomal recessive deafness 42" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 42" EXACT [] synonym: "DFNB42" EXACT [] synonym: "ILDR1-RELATED CONDITION" EXACT [] xref: MESH:C566460 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110501 name: autosomal recessive nonsyndromic deafness 44 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. (DO)" [PMID:24482543 "DO"] synonym: "ADCY1-RELATED CONDITION" EXACT [] synonym: "autosomal recessive deafness 44" EXACT [] synonym: "DFNB44" EXACT [] xref: MESH:C565716 xref: MIM:610154 xref: MONDO:0012421 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110502 name: autosomal recessive nonsyndromic deafness 45 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. (DO)" [PMID:18325041 "DO"] synonym: "autosomal recessive deafness 45" EXACT [] synonym: "DFNB45" EXACT [] xref: MIM:612433 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110503 name: autosomal recessive nonsyndromic deafness 46 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. (DO)" [PMID:15637723 "DO"] synonym: "autosomal recessive deafness 46" EXACT [] synonym: "DFNB46" EXACT [] xref: MESH:C566459 xref: MIM:609647 xref: MONDO:0012327 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110504 name: autosomal recessive nonsyndromic deafness 47 alt_id: MIM:609946 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. (DO)" [PMID:16261342 "DO"] synonym: "autosomal recessive deafness 47" EXACT [] synonym: "DFNB47" EXACT [] xref: MESH:C566498 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110505 name: autosomal recessive nonsyndromic deafness 48 alt_id: DOID:0110836 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. (DO)" [PMID:23023331 "DO"] synonym: "autosomal recessive deafness 48" EXACT [] synonym: "CIB2-RELATED CONDITION" BROAD [] synonym: "DFNB48" EXACT [] synonym: "USH1J" RELATED [] synonym: "Usher syndrome 1J" RELATED [] synonym: "Usher syndrome type 1J" RELATED [] synonym: "Usher syndrome type IJ" RELATED [] xref: MESH:C563720 xref: MIM:609439 xref: MONDO:0013935 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110506 name: autosomal recessive nonsyndromic deafness 49 alt_id: MIM:610153 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. (DO)" [PMID:18084694 "DO"] synonym: "autosomal recessive deafness 49" EXACT [] synonym: "DFNB49" EXACT [] synonym: "MARVELD2-RELATED CONDITION" EXACT [] synonym: "neurosensory deafness, autosomal recessive 49" EXACT [] xref: MESH:C565717 xref: NCI:C129024 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110507 name: autosomal recessive nonsyndromic deafness 5 alt_id: MIM:600792 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. (DO)" [PMID:8944017 "DO"] synonym: "autosomal recessive deafness 5" EXACT [] synonym: "DFNB5" EXACT [] synonym: "neurosensory nonsyndromic recessive deafness 5" EXACT [] synonym: "NSRD5" EXACT [] xref: MESH:C563444 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110508 name: autosomal recessive nonsyndromic deafness 51 alt_id: MIM:609941 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. (DO)" [PMID:16158433 "DO"] synonym: "autosomal recessive deafness 51" EXACT [] synonym: "DFNB51" EXACT [] xref: MESH:C538202 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:0110509 name: autosomal recessive nonsyndromic deafness 53 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)" [PMID:16033917 "DO"] synonym: "autosomal recessive deafness 53" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 53" EXACT [] synonym: "DFNB53" EXACT [] xref: MESH:C566453 xref: MIM:609706 xref: MONDO:0012333 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110510 name: autosomal recessive nonsyndromic deafness 55 alt_id: MIM:609952 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. (DO)" [PMID:16098016 "DO"] synonym: "autosomal recessive deafness 55" EXACT [] synonym: "DFNB55" EXACT [] xref: GARD:9919 xref: MESH:C538203 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:0110511 name: autosomal recessive nonsyndromic deafness 59 alt_id: MIM:610220 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. (DO)" [PMID:17301963 "DO"] synonym: "autosomal recessive deafness 59" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 59" EXACT [] synonym: "DFNB59" EXACT [] synonym: "PJVK-RELATED DISORDER" EXACT [] xref: MESH:C565698 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110512 name: autosomal recessive nonsyndromic deafness 6 alt_id: MIM:600971 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. (DO)" [PMID:12145746 "DO"] synonym: "autosomal recessive deafness 6" EXACT [] synonym: "DFNB6" EXACT [] synonym: "neurosensory nonsyndromic recessive deafness 6" EXACT [] synonym: "NSRD6" EXACT [] synonym: "TMIE-RELATED CONDITION" EXACT [] xref: MESH:C563418 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110513 name: autosomal recessive nonsyndromic deafness 61 def: "An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. (DO)" [PMID:12719379 "DO", PMID:24164807 "DO"] synonym: "autosomal recessive deafness 61" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 61" EXACT [] synonym: "DFNB61" EXACT [] synonym: "SLC26A5-related condition" BROAD [] xref: MIM:613865 xref: MONDO:0013471 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110514 name: autosomal recessive nonsyndromic deafness 62 alt_id: MIM:610143 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. (DO)" [PMID:16650082 "DO"] synonym: "autosomal recessive deafness 62" EXACT [] synonym: "DFNB62" EXACT [] xref: MESH:C565719 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110515 name: autosomal recessive nonsyndromic deafness 63 alt_id: MIM:611451 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. (DO)" [PMID:18953341 "DO"] synonym: "autosomal recessive deafness 63" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 63" EXACT [] synonym: "DFNB63" EXACT [] synonym: "LRTOMT-RELATED CONDITION" EXACT [] xref: MESH:C566951 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110516 name: autosomal recessive nonsyndromic deafness 65 alt_id: MIM:610248 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. (DO)" [PMID:16596430 "DO"] synonym: "autosomal recessive deafness 65" EXACT [] synonym: "DFNB65" EXACT [] xref: MESH:C565211 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110517 name: autosomal recessive nonsyndromic deafness 66 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. (DO)" [PMID:25601850 "DO"] synonym: "autosomal recessive deafness 66" EXACT [] synonym: "DFNB66" EXACT [] xref: MESH:C565701 xref: MIM:610212 xref: MONDO:0012442 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110518 name: autosomal recessive nonsyndromic deafness 67 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. (DO)" [PMID:16459341 "DO"] synonym: "autosomal recessive deafness 67" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 67" EXACT [] synonym: "DFNB67" EXACT [] synonym: "LHFPL5-RELATED CONDITION" EXACT [] xref: MESH:C565207 xref: MIM:610265 xref: MONDO:0012460 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110519 name: autosomal recessive nonsyndromic deafness 68 alt_id: MIM:610419 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. (DO)" [PMID:26805784 "DO"] synonym: "autosomal recessive deafness 68" EXACT [] synonym: "DFNB68" EXACT [] synonym: "S1PR2-RELATED CONDITION" EXACT [] xref: MESH:C563669 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110520 name: autosomal recessive nonsyndromic deafness 7 alt_id: MIM:600974 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)" [PMID:11850618 "DO"] synonym: "autosomal recessive deafness 11" EXACT [] synonym: "autosomal recessive deafness 7" EXACT [] synonym: "DFNB11" EXACT [] synonym: "DFNB7" EXACT [] xref: MESH:C563417 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110521 name: autosomal recessive nonsyndromic deafness 70 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. (DO)" [PMID:23084290 "DO"] synonym: "autosomal recessive deafness 70" EXACT [] synonym: "autosomal recessive deafness 70, with or without adult-onset neurodegeneration" EXACT [] synonym: "DFNB70" EXACT [] xref: MIM:614934 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110522 name: autosomal recessive nonsyndromic deafness 71 alt_id: MIM:612789 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. (DO)" [PMID:19229252 "DO"] synonym: "autosomal recessive deafness 71" EXACT [] synonym: "DFNB71" EXACT [] xref: MESH:C567562 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110523 name: autosomal recessive nonsyndromic deafness 74 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. (DO)" [PMID:21185009 "DO"] synonym: "autosomal recessive deafness 74" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 74" EXACT [] synonym: "DFNB74" EXACT [] synonym: "MSRB3-RELATED CONDITION" EXACT [] xref: MIM:613718 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110524 name: autosomal recessive nonsyndromic deafness 76 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. (DO)" [PMID:23348741 "DO"] synonym: "autosomal recessive deafness 76" EXACT [] synonym: "DFNB76" EXACT [] synonym: "SYNE4-RELATED CONDITION" EXACT [] synonym: "SYNE4-RELATED HEARING LOSS" EXACT [] xref: MIM:615540 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110525 name: autosomal recessive nonsyndromic deafness 77 def: "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. (DO)" [PMID:19732867 "DO"] synonym: "autosomal recessive deafness 77" EXACT [] synonym: "autosomal recessive deafness type 77" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 77" EXACT [] synonym: "DFNB77" EXACT [] synonym: "LOXHD1-related condition" BROAD [] xref: MESH:C567543 xref: MIM:613079 xref: MONDO:0013119 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110526 name: autosomal recessive nonsyndromic deafness 79 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. (DO)" [PMID:20170899 "DO"] synonym: "autosomal recessive deafness 79" EXACT [] synonym: "autosomal recessive nonsyndromic hearing loss 79" EXACT [] synonym: "DFNB79" EXACT [] synonym: "TPRN-related condition" EXACT [] xref: MESH:C567651 xref: MIM:613307 xref: MONDO:0013215 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110527 name: autosomal recessive nonsyndromic deafness 8 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. (DO)" [PMID:11137999 "DO"] synonym: "autosomal recessive deafness 8" EXACT [] synonym: "Deafness, Autosomal Recessive 10" EXACT [] synonym: "Deafness, Autosomal Recessive 8/10" EXACT [] synonym: "DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8" EXACT [] synonym: "DFNB10" EXACT [] synonym: "DFNB8" EXACT [] synonym: "Neurosensory Nonsyndromic Recessive Deafness 8" EXACT [] synonym: "NRSD8" EXACT [] synonym: "NSRD8" EXACT [] synonym: "TMPRSS3-related condition" BROAD [] xref: MESH:C563395 xref: MESH:C565341 xref: MIM:601072 xref: MONDO:0010987 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110528 name: autosomal recessive nonsyndromic deafness 83 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss "DO", MIM:613685 "DO"] synonym: "autosomal recessive deafness 83" EXACT [] synonym: "DFNB83" EXACT [] xref: MIM:613685 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110529 name: autosomal recessive nonsyndromic deafness 84A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. (DO)" [PMID:20346435 "DO"] synonym: "autosomal recessive deafness 84" EXACT [] synonym: "autosomal recessive deafness 84A" EXACT [] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION" EXACT [] synonym: "DFNB84" EXACT [] synonym: "DFNB84A" EXACT [] synonym: "PTPRQ-RELATED CONDITION" BROAD [] xref: MIM:613391 xref: MONDO:0013249 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110530 name: autosomal recessive nonsyndromic deafness 84B def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. (DO)" [PMID:23122586 "DO"] synonym: "autosomal recessive deafness 84B" EXACT [] synonym: "DFNB84B" EXACT [] synonym: "OTOGL-related condition" EXACT [] xref: MIM:614944 xref: MONDO:0013984 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110531 name: autosomal recessive nonsyndromic deafness 85 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. (DO)" [PMID:19888295 "DO"] synonym: "autosomal recessive deafness 85" EXACT [] synonym: "DFNB85" EXACT [] xref: MIM:613392 xref: MONDO:0013250 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110532 name: autosomal recessive nonsyndromic deafness 86 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [PMID:24387994 "DO"] synonym: "autosomal recessive deafness 86" EXACT [] synonym: "DFNB86" EXACT [] xref: MIM:614617 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110533 name: autosomal recessive nonsyndromic deafness 88 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. (DO)" [PMID:24039609 "DO"] synonym: "autosomal recessive deafness 88" EXACT [] synonym: "DFNB88" EXACT [] synonym: "ELMOD3-RELATED CONDITION" BROAD [] xref: MIM:615429 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110534 name: autosomal recessive nonsyndromic deafness 89 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. (DO)" [PMID:23768514 "DO"] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 89" EXACT [] synonym: "DFNB89" EXACT [] xref: MIM:613916 xref: MONDO:0013489 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110535 name: autosomal recessive nonsyndromic deafness 9 alt_id: DOID:9005224 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. (DO)" [PMID:10192385 "DO"] synonym: "AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE" RELATED [] synonym: "AUDITORY NEUROPATHY SPECTRUM DISORDER" EXACT [] synonym: "AUNB1" RELATED [] synonym: "autosomal recessive auditory neuropathy 1" RELATED [] synonym: "autosomal recessive deafness 9" EXACT [] synonym: "DFNB9" EXACT [] synonym: "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9" EXACT [] synonym: "NRSD9" EXACT [] synonym: "NSRAN" RELATED [] synonym: "OTOF-RELATED CONDITION" BROAD [] xref: MESH:C563396 xref: MESH:C563398 xref: MIM:601071 xref: MONDO:0010986 xref: NCI:C116364 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy [Term] id: DOID:0110536 name: autosomal recessive nonsyndromic deafness 91 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. (DO)" [PMID:20451170 "DO"] synonym: "autosomal recessive deafness 91" EXACT [] synonym: "autosomal recessive nonsyndromic hearing loss 91" EXACT [] synonym: "DFNB91" EXACT [] synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" EXACT [] synonym: "SERPINB6-RELATED CONDITION" EXACT [] xref: MIM:613453 xref: MONDO:0013269 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110537 name: autosomal recessive nonsyndromic deafness 93 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. (DO)" [PMID:22981119 "DO"] synonym: "autosomal recessive deafness 93" EXACT [] synonym: "CABP2-RELATED CONDITION" EXACT [] synonym: "DFNB93" EXACT [] xref: MIM:614899 xref: MONDO:0013963 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110538 name: autosomal recessive nonsyndromic deafness 96 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. (DO)" [PMID:21937999 "DO"] synonym: "autosomal recessive deafness 96" EXACT [] synonym: "DFNB96" EXACT [] xref: MIM:614414 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0110539 name: autosomal recessive nonsyndromic deafness 97 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. (DO)" [PMID:25941349 "DO"] synonym: "autosomal recessive deafness 97" EXACT [] synonym: "DFNB97" EXACT [] xref: MIM:616705 xref: MONDO:0014739 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110540 name: autosomal recessive nonsyndromic deafness 98 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. (DO)" [PMID:22678063 "DO"] synonym: "autosomal recessive deafness 98" EXACT [] synonym: "DFNB98" EXACT [] xref: MIM:614861 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110541 name: autosomal dominant nonsyndromic deafness 1 def: "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. (DO)" [PMID:9360932 "DO"] synonym: "autosomal dominant deafness 1" EXACT [] synonym: "autosomal dominant deafness 1, with or without thrombocytopenia" EXACT [] synonym: "DFNA1" EXACT [] synonym: "DIAPH1-RELATED CONDITION" BROAD [] synonym: "hereditary low frequency hearing loss" RELATED [] synonym: "hereditary low frequency hearing loss 1" EXACT [] synonym: "Konigsmark syndrome" EXACT [] synonym: "LFHL1" EXACT [] synonym: "progressive low tone deafness" RELATED [] xref: MESH:C565121 xref: MIM:124900 xref: MONDO:0007424 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110542 name: autosomal dominant nonsyndromic deafness 10 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. (DO)" [PMID:11159937 "DO"] synonym: "autosomal dominant deafness 10" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 10" EXACT [] synonym: "DFNA10" EXACT [] synonym: "EYA4-related condition" BROAD [] synonym: "EYA4-related disorder" BROAD [] synonym: "EYA4-related disorders" BROAD [] xref: MESH:C563354 xref: MIM:601316 xref: MONDO:0011031 xref: NCI:C212887 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110543 name: autosomal dominant nonsyndromic deafness 11 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)" [PMID:9354784 "DO"] synonym: "autosomal dominant deafness 11" EXACT [] synonym: "autosomal dominant nonsyndromic hearing loss 11" EXACT [] synonym: "DFNA11" EXACT [] xref: MESH:C563353 xref: MIM:601317 xref: MONDO:0011032 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110544 name: autosomal dominant nonsyndromic deafness 12 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. (DO)" [PMID:9590290 "DO"] synonym: "autosomal dominant deafness 12" EXACT [] synonym: "autosomal dominant deafness 8" EXACT [] synonym: "autosomal dominant deafness 8/12" EXACT [] synonym: "DFNA12" EXACT [] synonym: "DFNA8" EXACT [] synonym: "TECTA-related condition" BROAD [] xref: MESH:C563295 xref: MIM:601543 xref: MONDO:0011102 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110545 name: autosomal dominant nonsyndromic deafness 13 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)" [PMID:10581026 "DO"] synonym: "autosomal dominant deafness 13" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 13" EXACT [] synonym: "DFNA13" EXACT [] xref: MESH:C566612 xref: MIM:601868 xref: MONDO:0011159 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110546 name: autosomal dominant nonsyndromic deafness 15 alt_id: DOID:0110578 alt_id: MIM:602459 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. (DO)" [PMID:27535032 "DO", PMID:9506947 "DO"] synonym: "autosomal dominant deafness 15" EXACT [] synonym: "autosomal dominant deafness 52" EXACT [] synonym: "autosomal dominant nonsyndromic deafness 52" EXACT [] synonym: "DEAFNESS, AUTOSOMAL DOMINANT 42" EXACT [] synonym: "DFNA15" EXACT [] synonym: "DFNA42" EXACT [] synonym: "DFNA52" EXACT [] synonym: "POU4F3-RELATED CONDITION" EXACT [] xref: MESH:C564348 xref: MESH:C566545 xref: MONDO:0011893 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110547 name: autosomal dominant nonsyndromic deafness 16 alt_id: MIM:603964 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. (DO)" [PMID:10364526 "DO"] synonym: "autosomal dominant deafness 16" EXACT [] synonym: "DFNA16" EXACT [] xref: MESH:C565832 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110548 name: autosomal dominant nonsyndromic deafness 17 alt_id: MIM:603622 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. (DO)" [PMID:11023810 "DO"] synonym: "autosomal dominant deafness 17" EXACT [] synonym: "COCHLEOSACCULAR DEGENERATION" NARROW [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" EXACT [] synonym: "DFNA17" EXACT [] synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" EXACT [] synonym: "MYH9-RELATED CONDITION" BROAD [] xref: MESH:C538050 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0060651 ! MYH-9 related disease [Term] id: DOID:0110549 name: autosomal dominant nonsyndromic deafness 18 alt_id: MIM:606012 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. (DO)" [PMID:11313754 "DO"] synonym: "autosomal dominant deafness 18" EXACT [] synonym: "DFNA18" EXACT [] xref: MESH:C565267 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110550 name: autosomal dominant nonsyndromic deafness 20 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. (DO)" [PMID:13680526 "DO"] synonym: "ACTG1-related condition" BROAD [] synonym: "ACTG1-related disorder" BROAD [] synonym: "autosomal dominant deafness 20" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 20" EXACT [] synonym: "Deafness, autosomal dominant 20/26" EXACT [] synonym: "DFNA20" EXACT [] synonym: "DFNA26" EXACT [] xref: MESH:C565754 xref: MIM:604717 xref: MONDO:0011480 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110551 name: autosomal dominant nonsyndromic deafness 21 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. (DO)" [PMID:10764236 "DO"] synonym: "autosomal dominant deafness 21" EXACT [] synonym: "DFNA21" EXACT [] synonym: "RIPOR2-RELATED CONDITION" BROAD [] xref: MESH:C564634 xref: MIM:607017 xref: MONDO:0011761 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110552 name: autosomal dominant nonsyndromic deafness 22 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)" [PMID:11468689 "DO"] synonym: "autosomal dominant deafness 22" EXACT [] synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" NARROW [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" EXACT [] synonym: "DFNA 22" EXACT [] synonym: "DFNA22" EXACT [] synonym: "MYO6-related condition" BROAD [] xref: MESH:C538197 xref: MIM:606346 xref: MONDO:0011660 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110553 name: autosomal dominant nonsyndromic deafness 23 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. (DO)" [PMID:15141091 "DO"] synonym: "autosomal dominant deafness 23" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 23" EXACT [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" EXACT [] synonym: "DFNA23" EXACT [] synonym: "SIX1-RELATED CONDITION" BROAD [] xref: MESH:C538198 xref: MESH:C565357 xref: MIM:605192 xref: MONDO:0011519 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110554 name: autosomal dominant nonsyndromic deafness 24 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. (DO)" [PMID:10739769 "DO"] synonym: "autosomal dominant deafness 24" EXACT [] synonym: "autosomal dominant nonsyndromic sensorineural deafness 24" EXACT [] synonym: "DFNA24" EXACT [] xref: GARD:9166 xref: MESH:C538199 xref: MESH:C565239 xref: MIM:606282 xref: MONDO:0011657 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110555 name: autosomal dominant nonsyndromic deafness 25 alt_id: MIM:605583 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. (DO)" [PMID:18674745 "DO"] synonym: "autosomal dominant deafness 25" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 25" EXACT [] synonym: "DFNA25" EXACT [] synonym: "SLC17A8-RELATED CONDITION" EXACT [] xref: MESH:C565319 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110556 name: autosomal dominant nonsyndromic deafness 27 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. (DO)" [PMID:18279434 "DO"] synonym: "autosomal dominant deafness 27" EXACT [] synonym: "autosomal dominant nonsyndromic hearing loss 27" EXACT [] synonym: "DFNA27" EXACT [] xref: MIM:612431 xref: MONDO:0012902 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110557 name: autosomal dominant nonsyndromic deafness 28 alt_id: MIM:608641 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. (DO)" [PMID:12393799 "DO"] synonym: "autosomal dominant deafness 28" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 28" EXACT [] synonym: "DFNA28" EXACT [] xref: MESH:C563890 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110558 name: autosomal dominant nonsyndromic deafness 2A def: "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. (DO)" [PMID:10025409 "DO"] synonym: "autosomal dominant deafness 2A" EXACT [] synonym: "DFNA2A" EXACT [] synonym: "DFNA 2 Nonsyndromic Hearing Loss" EXACT [] synonym: "KCNQ4-RELATED CONDITION" EXACT [] xref: MESH:C567441 xref: MIM:600101 xref: MONDO:0010817 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110559 name: autosomal dominant nonsyndromic deafness 2B def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. (DO)" [PMID:9843210 "DO"] synonym: "autosomal dominant deafness 2B" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 2B" EXACT [] synonym: "DFNA2B" EXACT [] xref: MESH:C567214 xref: MIM:612644 xref: MONDO:0012976 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110560 name: autosomal dominant nonsyndromic deafness 30 alt_id: MIM:606451 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. (DO)" [PMID:11571554 "DO"] synonym: "autosomal dominant deafness 30" EXACT [] synonym: "DFNA30" EXACT [] xref: MESH:C564706 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110561 name: autosomal dominant nonsyndromic deafness 31 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. (DO)" [PMID:11559344 "DO"] synonym: "autosomal dominant deafness 31" EXACT [] synonym: "DFNA31" EXACT [] xref: MESH:C563888 xref: MIM:608645 xref: MONDO:0012086 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110562 name: autosomal dominant nonsyndromic deafness 33 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. (DO)" [PMID:19183916 "DO", PMID:37671045 "DO"] synonym: "autosomal dominant deafness 33" EXACT [] synonym: "DFNA33" EXACT [] xref: MIM:614211 xref: MONDO:0013632 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110563 name: autosomal dominant nonsyndromic deafness 36 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)" [PMID:11850618 "DO"] synonym: "autosomal dominant deafness 36" EXACT [] synonym: "autosomal dominant nonsyndromic hearing loss 36" EXACT [] synonym: "DFNA36" EXACT [] synonym: "TMC1-related condition" BROAD [] xref: MESH:C564675 xref: MIM:606705 xref: MONDO:0011708 xref: NCI:C174444 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110564 name: autosomal dominant nonsyndromic deafness 3A alt_id: MIM:601544 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)" [PMID:9139825 "DO"] synonym: "autosomal dominant deafness 3A" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 3A" EXACT [] synonym: "DFNA3A" EXACT [] xref: MESH:C567277 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110565 name: autosomal dominant nonsyndromic deafness 3B alt_id: MIM:612643 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)" [PMID:10471490 "DO"] synonym: "autosomal dominant deafness 3B" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 3B" EXACT [] synonym: "DFNA3B" EXACT [] xref: MESH:C567215 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110566 name: autosomal dominant nonsyndromic deafness 40 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. (DO)" [PMID:12471561 "DO"] synonym: "autosomal dominant deafness 40" EXACT [] synonym: "CRYM-related condition" BROAD [] synonym: "DFNA40" EXACT [] xref: MIM:616357 xref: MONDO:0014603 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110567 name: autosomal dominant nonsyndromic deafness 41 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (DO)" [MIM:608224 "DO", PMID:24211385 "DO"] synonym: "autosomal dominant deafness 41" EXACT [] synonym: "DFNA41" EXACT [] synonym: "P2RX2-related condition" EXACT [] xref: MESH:C564272 xref: MIM:608224 xref: MONDO:0011994 xref: NCI:C175700 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110568 name: autosomal dominant nonsyndromic deafness 43 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. (DO)" [PMID:12676899 "DO"] synonym: "autosomal dominant deafness 43" EXACT [] synonym: "DFNA43" EXACT [] xref: MESH:C564246 xref: MIM:608394 xref: MONDO:0012030 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110569 name: autosomal dominant nonsyndromic deafness 44 alt_id: MIM:607453 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. (DO)" [PMID:17503326 "DO"] synonym: "autosomal dominant deafness 44" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 44" EXACT [] synonym: "CCDC50-RELATED CONDITION" EXACT [] synonym: "DFNA44" EXACT [] xref: MESH:C564399 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110570 name: autosomal dominant nonsyndromic deafness 47 alt_id: MIM:608652 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. (DO)" [PMID:12634859 "DO"] synonym: "autosomal dominant deafness 47" EXACT [] synonym: "DFNA47" EXACT [] xref: MESH:C563885 xref: RDO:0013025 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110571 name: autosomal dominant nonsyndromic deafness 48 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. (DO)" [PMID:12736868 "DO"] synonym: "autosomal dominant deafness 48" EXACT [] synonym: "DFNA48" EXACT [] xref: MESH:C564322 xref: MIM:607841 xref: MONDO:0011920 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110572 name: autosomal dominant nonsyndromic deafness 49 alt_id: MIM:608372 alt_id: RDO:0013276 def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)" [PMID:14627674 "DO"] synonym: "autosomal dominant deafness 49" EXACT [] synonym: "DFNA49" EXACT [] xref: MESH:C564250 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110573 name: autosomal dominant nonsyndromic deafness 4A def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. (DO)" [PMID:15015131 "DO"] synonym: "autosomal dominant deafness 4A" EXACT [] synonym: "DFNA4A" EXACT [] synonym: "MYH14-related condition" BROAD [] xref: MIM:600652 xref: MONDO:0010915 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110574 name: autosomal dominant nonsyndromic deafness 4B def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. (DO)" [PMID:21368133 "DO"] synonym: "autosomal dominant deafness 4B" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 4B" EXACT [] synonym: "CEACAM16-RELATED CONDITION" BROAD [] synonym: "DFNA4B" EXACT [] xref: MIM:614614 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110575 name: autosomal dominant nonsyndromic deafness 5 alt_id: MIM:600994 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss "DO", MIM:600994 "DO", PMID:29849037 "DO"] synonym: "autosomal dominant deafness 5" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 5" EXACT [] synonym: "DFNA5" EXACT [] synonym: "GSDME-RELATED CONDITION" EXACT [] xref: MESH:C563410 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110576 name: autosomal dominant nonsyndromic deafness 50 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. (DO)" [PMID:19363479 "DO"] synonym: "autosomal dominant deafness 50" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 50" EXACT [] synonym: "DFNA50" EXACT [] synonym: "MIR96-RELATED CONDITION" EXACT [] xref: MIM:613074 xref: RDO:0009751 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110577 name: autosomal dominant nonsyndromic deafness 51 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. (DO)" [PMID:20602916 "DO"] synonym: "autosomal dominant deafness 51" EXACT [] synonym: "chromosome 9q21.11 duplication syndrome" EXACT [] synonym: "DFNA51" EXACT [] xref: MIM:613558 xref: MONDO:0013305 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0110579 name: autosomal dominant nonsyndromic deafness 53 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. (DO)" [PMID:15958501 "DO"] synonym: "autosomal dominant deafness 53" EXACT [] synonym: "DFNA53" EXACT [] xref: GARD:9934 xref: MESH:C566495 xref: MIM:609965 xref: MONDO:0012380 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110580 name: autosomal dominant nonsyndromic deafness 54 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. (DO)" [PMID:15490091 "DO"] synonym: "autosomal dominant deafness 54" EXACT [] synonym: "DFNA54" EXACT [] xref: MIM:615649 xref: MONDO:0014291 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:0110581 name: autosomal dominant nonsyndromic deafness 56 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. (DO)" [PMID:23936043 "DO"] synonym: "autosomal dominant deafness 56" EXACT [] synonym: "DFNA56" EXACT [] synonym: "TNC-related condition" BROAD [] xref: MIM:615629 xref: MONDO:0014283 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110582 name: autosomal dominant nonsyndromic deafness 58 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. (DO)" [PMID:19159392 "DO"] synonym: "autosomal dominant deafness 58" EXACT [] synonym: "DFNA58" EXACT [] xref: MIM:615654 xref: MONDO:0014293 xref: NCI:C201585 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0110583 name: autosomal dominant nonsyndromic deafness 59 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. (DO)" [PMID:19030898 "DO"] synonym: "autosomal dominant deafness 59" EXACT [] synonym: "DFNA59" EXACT [] xref: MESH:C567216 xref: MIM:612642 xref: MONDO:0012974 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110584 name: autosomal dominant nonsyndromic deafness 6 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. (DO)" [PMID:11709537 "DO", PMID:11709538 "DO"] synonym: "autosomal dominant deafness 6" EXACT [] synonym: "Deafness, Autosomal Dominant 14" EXACT [] synonym: "Deafness, Autosomal Dominant 38" EXACT [] synonym: "DFNA14" EXACT [] synonym: "DFNA38" EXACT [] synonym: "DFNA6" EXACT [] synonym: "DFNA6/14/38" EXACT [] xref: MESH:C563421 xref: MIM:600965 xref: MONDO:0010963 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110585 name: autosomal dominant nonsyndromic deafness 64 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. (DO)" [PMID:21722859 "DO"] synonym: "autosomal dominant deafness 64" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 64" EXACT [] synonym: "DFNA64" EXACT [] synonym: "DIABLO-related condition" BROAD [] xref: MIM:614152 xref: MONDO:0013593 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110586 name: autosomal dominant nonsyndromic deafness 65 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [PMID:24729539 "DO", PMID:24729547 "DO"] synonym: "autosomal dominant deafness 65" RELATED [] synonym: "DFNA65" RELATED [] xref: MIM:616044 xref: MONDO:0014470 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110587 name: autosomal dominant nonsyndromic deafness 66 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. (DO)" [PMID:26197441 "DO"] synonym: "autosomal dominant deafness 66" EXACT [] synonym: "autosomal dominant nonsyndromic hearing loss 66" EXACT [] synonym: "CD164-RELATED CONDITION" EXACT [] synonym: "DFNA66" EXACT [] xref: MIM:616969 xref: MONDO:0014854 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110588 name: autosomal dominant nonsyndromic deafness 67 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. (DO)" [PMID:25077649 "DO"] synonym: "autosomal dominant deafness 67" EXACT [] synonym: "DFNA67" EXACT [] synonym: "OSBPL2-related condition" EXACT [] xref: MIM:616340 xref: MONDO:0014594 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110589 name: autosomal dominant nonsyndromic deafness 68 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. (DO)" [PMID:25816005 "DO"] synonym: "autosomal dominant deafness 68" EXACT [] synonym: "DFNA68" EXACT [] synonym: "HOMER2-RELATED CONDITION" EXACT [] xref: MIM:616707 xref: RDO:9000776 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110590 name: autosomal dominant nonsyndromic deafness 69 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. (DO)" [PMID:26522471 "DO"] synonym: "autosomal dominant deafness 69" EXACT [] synonym: "DCUA" EXACT [] synonym: "Deafness, autosomal dominant 69, unilateral or asymmetric" EXACT [] synonym: "DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC" EXACT [] synonym: "DFNA69" EXACT [] xref: ICD10CM:H90.3 xref: MIM:616697 xref: RDO:9000404 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110591 name: autosomal dominant nonsyndromic deafness 7 def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)" [PMID:8842739 "DO"] synonym: "autosomal dominant deafness 7" EXACT [] synonym: "DFNA7" EXACT [] synonym: "LMX1A-RELATED CONDITION" EXACT [] xref: MESH:C563321 xref: MIM:601412 xref: MONDO:0011074 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110592 name: autosomal dominant nonsyndromic deafness 70 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. (DO)" [PMID:26196677 "DO"] synonym: "autosomal dominant deafness 70" EXACT [] synonym: "DFNA70" EXACT [] synonym: "MCM2-related condition" EXACT [] xref: MIM:616968 xref: MONDO:0014853 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110593 name: autosomal dominant nonsyndromic deafness 9 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. (DO)" [PMID:9806553 "DO"] synonym: "autosomal dominant deafness 9" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS 9" EXACT [] synonym: "COCH-RELATED CONDITION" BROAD [] synonym: "DFNA9" EXACT [] xref: MESH:C563335 xref: MIM:601369 xref: MONDO:0011058 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110594 name: primary ciliary dyskinesia 1 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. (DO)" [PMID:10577904 "DO", PMID:26998415 "DO"] synonym: "CILD1" EXACT [] synonym: "DNAI1-related condition" BROAD [] synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [] xref: MIM:244400 xref: MONDO:0009484 xref: NCI:C128117 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0110595 name: Stromme syndrome def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. (DO)" [PMID:25564561 "DO"] synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [] synonym: "CENPF-RELATED CONDITION" EXACT [] synonym: "CILD31" EXACT [] synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [] synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [] synonym: "primary ciliary dyskinesia 31" EXACT [] synonym: "STROMS" EXACT [] xref: EFO:0009160 xref: MESH:C565460 xref: MIM:243605 xref: MONDO:0009477 is_a: DOID:10486 ! intestinal atresia is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110596 name: primary ciliary dyskinesia 21 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (DO)" [PMID:23354437 "DO", PMID:26998415 "DO"] synonym: "CILD21" EXACT [] synonym: "DRC1-RELATED CONDITION" BROAD [] synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [] xref: MIM:615294 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110597 name: primary ciliary dyskinesia 22 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. (DO)" [PMID:23891469 "DO", PMID:23891471 "DO"] synonym: "CILD22" EXACT [] synonym: "primary ciliary dyskinesia 22, with or without situs inversus" EXACT [] synonym: "ZMYND10-RELATED CONDITION" EXACT [] xref: MIM:615444 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110598 name: primary ciliary dyskinesia 14 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (DO)" [PMID:21131972 "DO", PMID:26998415 "DO"] synonym: "CCDC39-related condition" BROAD [] synonym: "CILD14" EXACT [] synonym: "primary ciliary dyskinesia 14, with or without situs inversus" EXACT [] xref: MIM:613807 xref: MONDO:0013434 xref: OMIA:001540 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110599 name: primary ciliary dyskinesia 3 alt_id: MIM:608644 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (DO)" [PMID:11788826 "DO", PMID:26998415 "DO"] synonym: "CILD3" EXACT [] synonym: "DNAH5-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 3, with or without situs inversus" EXACT [] synonym: "RESPIRATORY CILIOPATHIES INCLUDING NON-CF BRONCHIECTASIS" BROAD [] xref: ICD10CM:Q34.8 xref: MESH:C535278 xref: NCI:C172392 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110600 name: primary ciliary dyskinesia 29 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. (DO)" [PMID:24747639 "DO", PMID:26998415 "DO"] synonym: "CCNO-RELATED CONDITION" EXACT [] synonym: "CILD29" EXACT [] synonym: "primary ciliary dyskinesia 29, without situs inversus" EXACT [] xref: MIM:615872 xref: NCI:C172393 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110601 name: primary ciliary dyskinesia 12 def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. (DO)" [PMID:19200523 "DO"] synonym: "CILD12" EXACT [] synonym: "primary ciliary dyskinesia 12, without situs inversus" EXACT [] synonym: "RSPH9-RELATED DISORDER" EXACT [] xref: MESH:C567211 xref: MIM:612650 xref: MONDO:0012979 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110602 name: primary ciliary dyskinesia 11 def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. (DO)" [PMID:19200523 "DO"] synonym: "CILD11" EXACT [] synonym: "primary ciliary dyskinesia 11, without situs inversus" EXACT [] synonym: "RSPH4A-related condition" BROAD [] xref: MESH:C567212 xref: MIM:612649 xref: MONDO:0012978 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110603 name: primary ciliary dyskinesia 32 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. (DO)" [PMID:26073779 "DO"] synonym: "CILD32" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:616481 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110604 name: primary ciliary dyskinesia 18 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (DO)" [PMID:23040496 "DO", PMID:26998415 "DO"] synonym: "CILD18" EXACT [] synonym: "DNAAF5-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [] xref: MIM:614874 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110605 name: primary ciliary dyskinesia 7 alt_id: MIM:611884 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. (DO)" [PMID:18022865 "DO"] synonym: "CILD7" EXACT [] synonym: "DNAH11-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [] xref: MESH:C567504 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110606 name: primary ciliary dyskinesia 6 def: "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. (DO)" [PMID:17360648 "DO", PMID:26998415 "DO"] synonym: "CILD6" EXACT [] synonym: "NME8-related condition" BROAD [] xref: MESH:C567057 xref: MIM:610852 xref: MONDO:0012571 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110607 name: primary ciliary dyskinesia 28 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. (DO)" [PMID:24055112 "DO", PMID:26998415 "DO"] synonym: "CILD28" EXACT [] synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [] xref: MIM:615505 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110608 name: primary ciliary dyskinesia 19 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. (DO)" [PMID:23122589 "DO", PMID:26998415 "DO"] synonym: "CILD19" EXACT [] synonym: "DNAAF11-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [] xref: MIM:614935 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110609 name: primary ciliary dyskinesia 23 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (DO)" [PMID:23849778 "DO", PMID:26998415 "DO"] synonym: "CILD23" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:615451 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110610 name: primary ciliary dyskinesia 34 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. (DO)" [PMID:27486783 "DO"] synonym: "CILD34" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS" EXACT [] synonym: "DNAJB13-related condition" BROAD [] xref: MIM:617091 xref: MONDO:0014909 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110611 name: primary ciliary dyskinesia 27 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. (DO)" [PMID:24094744 "DO"] synonym: "CILD27" EXACT [] synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [] xref: MIM:615504 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110612 name: primary ciliary dyskinesia 10 def: "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. (DO)" [PMID:19052621 "DO"] synonym: "CILD10" EXACT [] synonym: "DNAAF2-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 10, with or without situs inversus" EXACT [] xref: MESH:C567287 xref: MIM:612518 xref: MONDO:0012918 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110613 name: primary ciliary dyskinesia 16 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (DO)" [PMID:21496787 "DO", PMID:26998415 "DO"] synonym: "CILD16" EXACT [] synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [] xref: MIM:614017 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110614 name: primary ciliary dyskinesia 4 alt_id: MIM:608646 def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. (DO)" [PMID:14985390 "DO"] synonym: "CILD4" EXACT [] synonym: "primary ciliary dyskinesia 4, with or without situs inversus" EXACT [] xref: MESH:C535279 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110615 name: primary ciliary dyskinesia 25 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. (DO)" [PMID:23872636 "DO", PMID:26998415 "DO"] synonym: "CILD25" EXACT [] synonym: "DNAAF4-RELATED CONDITION" BROAD [] synonym: "primary ciliary dyskinesia 25, with or without situs inversus" EXACT [] xref: MIM:615482 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110616 name: primary ciliary dyskinesia 8 alt_id: MIM:612274 def: "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. (DO)" [PMID:18270537 "DO"] synonym: "CILD8" EXACT [] synonym: "primary ciliary dyskinesia 8, with or without situs inversus" EXACT [] xref: MESH:C567373 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110617 name: primary ciliary dyskinesia 5 alt_id: MIM:608647 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. (DO)" [PMID:23022101 "DO"] synonym: "CILD5" EXACT [] synonym: "HYDIN-RELATED DISORDER" EXACT [] synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [] xref: MESH:C563886 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110618 name: primary ciliary dyskinesia 13 alt_id: MIM:613193 def: "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. (DO)" [PMID:19944400 "DO", PMID:26998415 "DO"] synonym: "CILD13" EXACT [] synonym: "DNAAF1-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 13, with or without situs inversus" EXACT [] xref: MESH:C567713 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110619 name: primary ciliary dyskinesia 33 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. (DO)" [PMID:26387594 "DO"] synonym: "CILD33" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS" EXACT [] synonym: "GAS8-RELATED DISORDER" EXACT [] xref: MIM:616726 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110620 name: primary ciliary dyskinesia 35 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. (DO)" [PMID:27486780 "DO"] synonym: "CILD35" EXACT [] synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [] xref: MIM:617092 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110621 name: primary ciliary dyskinesia 17 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (DO)" [PMID:22581229 "DO", PMID:26998415 "DO"] synonym: "CILD17" EXACT [] synonym: "primary ciliary dyskinesia 17, with or without situs inversus" EXACT [] xref: MIM:614679 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110622 name: primary ciliary dyskinesia 9 alt_id: MIM:612444 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (DO)" [PMID:18950741 "DO", PMID:26998415 "DO"] synonym: "CILD9" EXACT [] synonym: "DNAI2-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 9, with or without situs inversus" EXACT [] synonym: "RESPIRATORY CILIOPATHIES INCLUDING NON-CF BRONCHIECTASIS" BROAD [] xref: MESH:C567310 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110623 name: primary ciliary dyskinesia 15 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (DO)" [PMID:21131974 "DO", PMID:26998415 "DO"] synonym: "CCDC40-related condition" EXACT [] synonym: "CILD15" EXACT [] synonym: "primary ciliary dyskinesia 15, with or without situs inversus" EXACT [] xref: MIM:613808 xref: MONDO:0013435 xref: NCI:C155999 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110624 name: primary ciliary dyskinesia 30 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (DO)" [PMID:25192045 "DO", PMID:26998415 "DO"] synonym: "CILD30" EXACT [] synonym: "ODAD3-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 30, with or without situs inversus" EXACT [] synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [] xref: MIM:616037 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110625 name: primary ciliary dyskinesia 20 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. (DO)" [PMID:23261303 "DO", PMID:26998415 "DO"] synonym: "CILD20" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS" EXACT [] synonym: "ODAD1-RELATED CONDITION" EXACT [] xref: MIM:615067 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110626 name: primary ciliary dyskinesia 2 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (DO)" [PMID:22387996 "DO", PMID:26998415 "DO"] synonym: "CILD2" EXACT [] synonym: "DNAAF3-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 2, with or without situs inversus" EXACT [] xref: MESH:C535277 xref: MIM:606763 xref: MONDO:0011718 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110627 name: primary ciliary dyskinesia 26 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (DO)" [PMID:24094744 "DO", PMID:26998415 "DO"] synonym: "CFAP298-related condition" BROAD [] synonym: "CILD26" EXACT [] synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [] xref: MIM:615500 xref: MONDO:0014211 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110628 name: primary ciliary dyskinesia 24 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. (DO)" [PMID:23993197 "DO"] synonym: "CILD24" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS" EXACT [] synonym: "RSPH1-RELATED CONDITION" EXACT [] xref: MIM:615481 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110629 name: Wolfram syndrome 1 def: "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)" [PMID:21538838 "DO"] synonym: "diabetes mellitus AND insipidus with optic atrophy AND deafness" EXACT [] synonym: "WFS1" EXACT [] xref: ICD10CM:E13.8 xref: MIM:222300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10632 ! Wolfram syndrome created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110630 name: Wolfram syndrome 2 alt_id: MIM:604928 def: "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. (DO)" [PMID:25056293 "DO"] synonym: "CISD2-RELATED CONDITION" EXACT [] synonym: "WFS2" EXACT [] xref: MESH:C565733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10632 ! Wolfram syndrome is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002644 ! Premature Aging [Term] id: DOID:0110632 name: megaconial type congenital muscular dystrophy def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. (DO)" [PMID:16371353 "DO", PMID:21665002 "DO"] synonym: "congenital megaconial myopathy" EXACT [] synonym: "congenital muscular dystrophy, CHKB-related" BROAD [] synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [] synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [] synonym: "MDCMC" EXACT [] synonym: "megaconial congenital muscular dystrophy" EXACT [] xref: MESH:C566527 xref: MIM:602541 xref: MONDO:0011246 xref: ORDO:280671 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110633 name: rigid spine muscular dystrophy 1 def: "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)" [PMID:11528383 "DO", PMID:12192640 "DO", PMID:15122708 "DO"] synonym: "classic MMD" EXACT [] synonym: "classic multiminicore disease" EXACT [] synonym: "classic multiminicore myopathy" EXACT [] synonym: "CMYP3" EXACT [] synonym: "congenital muscular dystrophy, merosin positive with early spine rigidity" EXACT [] synonym: "congenital muscular dystrophy with rigid spine" EXACT [] synonym: "congenital myopathy 3 with rigid spine" EXACT [] synonym: "Desmin-related myopathies with Mallory bodies" EXACT [] synonym: "Desmin-Related Myopathy With Mallory Bodies" EXACT [] synonym: "desmin-related myopathy with Mallory body-like inclusions" EXACT [] synonym: "early-onset desmin-related myopathy" EXACT [] synonym: "MDRS1" EXACT [] synonym: "Minicore myopathy, severe classic form" EXACT [] synonym: "Multicore myopathy, severe classic form" EXACT [] synonym: "Multiminicore/minicore/multicore disease" EXACT [] synonym: "Multi-minicore disease and atypical periodic paralysis" NARROW [] synonym: "Multiminicore disease, severe classic form" EXACT [] synonym: "Muscular Dystrophy, Congenital, Eichsfeld Type" EXACT [] synonym: "rigid spine syndrome" EXACT [] synonym: "RSMD1" EXACT [] synonym: "RSS" EXACT [] synonym: "SELENON-related condition" EXACT [] synonym: "SEPN1-related disorder" BROAD [] synonym: "SEPN1-related myopathy" EXACT [] xref: GARD:4723 xref: ICD10CM:G71.8 xref: MESH:C535683 xref: MIM:602771 xref: MONDO:0011271 xref: NCI:C126691 xref: ORDO:324604 xref: ORDO:84132 xref: ORDO:97244 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060249 ! scoliosis [Term] id: DOID:0110634 name: congenital muscular dystrophy 1B def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. (DO)" [PMID:10677302 "DO"] synonym: "congenital muscular dystrophy type 1B" EXACT [] synonym: "MDC1B" EXACT [] xref: ICD10CM:G71.2 xref: MESH:C565748 xref: MIM:604801 xref: MONDO:0011486 xref: ORDO:98893 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110635 name: muscular dystrophy-dystroglycanopathy type B5 alt_id: MIM:606612 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (DO)" [PMID:11592034 "DO", PMID:14652796 "DO"] synonym: "congenital muscular dystrophy 1C" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5" NARROW [] synonym: "congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development, type B5" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5" NARROW [] synonym: "congenital muscular dystrophy, FKRP-related" EXACT [] synonym: "MDC1C" EXACT [] synonym: "MDDGB5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT [] xref: MESH:C564691 xref: ORDO:52428 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0110636 name: congenital merosin-deficient muscular dystrophy 1A def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO)" [PMID:24611677 "DO", PMID:7550355 "DO"] synonym: "CMD1A" EXACT [] synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [] synonym: "congenital muscular dystrophy, LAMA2-related" BROAD [] synonym: "LAMA2-RELATED CONDITION" BROAD [] synonym: "LAMININ ALPHA 2-RELATED DYSTROPHY" EXACT [] synonym: "MDC1A" EXACT [] synonym: "merosin-deficient congenital muscular dystrophy" EXACT [] synonym: "merosin-negative congenital muscular dystrophy" EXACT [] synonym: "MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN DEFICIENT OR PARTIALLY DEFICIENT" EXACT [] xref: EFO:0009138 xref: MESH:C537384 xref: MIM:607855 xref: MONDO:0011925 xref: NCI:C118783 xref: ORDO:258 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110637 name: muscular dystrophy-dystroglycanopathy type B6 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)" [PMID:12966029 "DO", PMID:19067344 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6" EXACT [] synonym: "congenital muscular dystrophy, LARGE-related" EXACT [] synonym: "congenital muscular dystrophy, type 1D" EXACT [] synonym: "MDC1D" EXACT [] synonym: "MDDGB6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT [] xref: MESH:C563844 xref: MIM:608840 xref: MONDO:0012138 xref: ORDO:98894 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110639 name: congenital muscular dystrophy due to integrin alpha-7 deficiency def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. (DO)" [PMID:9590299 "DO"] synonym: "congenital muscular dystrophy due to ITGA7 deficiency" EXACT [] synonym: "congenital muscular dystrophy, ITGA7-related" EXACT [] synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [] synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [] synonym: "congenital myopathy due to Integrin Alpha-7 deficiency" EXACT [] xref: MESH:C567709 xref: MIM:613204 xref: MONDO:0013177 xref: ORDO:34520 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110640 name: congenital muscular dystrophy due to LMNA mutation def: "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [PMID:15148145 "DO", PMID:18551513 "DO"] synonym: "congenital muscular dystrophy LMNA-related" EXACT [] synonym: "L-CMD" EXACT [] synonym: "Mdcl" EXACT [] xref: MESH:C567708 xref: MIM:613205 xref: MONDO:0013178 xref: NCI:C148369 xref: ORDO:157973 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:0110644 name: long QT syndrome 1 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)" [PMID:17192539 "DO"] synonym: "long QT syndrome 1/2, digenic" NARROW [] synonym: "LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "long QT syndrome 1, recessive" NARROW [] synonym: "long QT syndrome, LQT1 subtype" EXACT [] synonym: "long QT syndrome type 1" EXACT [] synonym: "LQT1" EXACT [] synonym: "LQT1/2, Digenic" NARROW [] synonym: "LQT1 subtype" EXACT [] synonym: "ventricular fibrillation with prolonged QT interval" EXACT [] xref: GARD:3284 xref: MIM:192500 xref: MONDO:0100316 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110645 name: long QT syndrome 2 alt_id: MIM:613688 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. (DO)" [PMID:7889573 "DO"] synonym: "KCNH2-RELATED CONDITION" BROAD [] synonym: "KCNH2-RELATED DISORDERS" BROAD [] synonym: "LONG QT SYNDROME 2/9, DIGENIC" NARROW [] synonym: "LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "LONG QT SYNDROME, BRADYCARDIA-INDUCED" EXACT [] synonym: "LQT2" EXACT [] synonym: "LQT2/9, digenic" NARROW [] xref: GARD:3285 xref: MESH:C563614 xref: NCI:C137957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110646 name: long QT syndrome 3 alt_id: MIM:603830 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. (DO)" [PMID:8541846 "DO"] synonym: "LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO" RELATED [] synonym: "Long QT Syndrome Type 3" EXACT [] synonym: "LQT3" EXACT [] xref: GARD:3286 xref: MESH:C537034 xref: MESH:C565840 xref: NCI:C137959 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110647 name: long QT syndrome 5 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)" [PMID:10973849 "DO"] synonym: "KCNE1-RELATED CONDITION" BROAD [] synonym: "LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "LQT5" EXACT [] xref: GARD:10433 xref: ICD10CM:I45.8 xref: MESH:C566766 xref: MIM:613695 xref: MONDO:0013372 xref: NCI:C172094 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110648 name: long QT syndrome 6 alt_id: MIM:613693 def: "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. (DO)" [PMID:10219239 "DO"] synonym: "KCNE2-RELATED CONDITION" BROAD [] synonym: "KCNE2-RELATED DISORDER" BROAD [] synonym: "LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO" RELATED [] synonym: "LQT6" EXACT [] xref: GARD:10434 xref: MESH:C566333 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110649 name: long QT syndrome 8 def: "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)" [https://www.omim.org/MIM\:618447 "DO", PMID:34079780 "DO", PMID:37132248 "DO"] synonym: "LQT8" EXACT [] xref: MIM:618447 xref: NCI:C142894 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome created_by: mtutaj creation_date: 2024-02-28T17:22:06Z [Term] id: DOID:0110650 name: long QT syndrome 9 def: "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. (DO)" [PMID:17060380 "DO"] synonym: "LONG QT SYNDROME 2/9, DIGENIC" NARROW [] synonym: "Long Qt Syndrome 2-9" EXACT [] synonym: "LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "LQT2/9, digenic" NARROW [] synonym: "LQT9" EXACT [] xref: GARD:10435 xref: MESH:C567515 xref: MIM:611818 xref: MONDO:0012736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110651 name: long QT syndrome 10 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. (DO)" [PMID:17592081 "DO"] synonym: "LQT10" EXACT [] synonym: "SCN4B-RELATED CONDITION" EXACT [] xref: GARD:10436 xref: MESH:C567514 xref: MIM:611819 xref: MONDO:0012737 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110652 name: long QT syndrome 11 alt_id: MIM:611820 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. (DO)" [PMID:18093912 "DO"] synonym: "AKAP9-RELATED CONDITION" EXACT [] synonym: "LQT11" EXACT [] xref: GARD:10437 xref: MESH:C567513 xref: NCI:C192195 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110653 name: long QT syndrome 12 alt_id: MIM:612955 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. (DO)" [PMID:19684871 "DO"] synonym: "LQT12" EXACT [] synonym: "SNTA1-RELATED CONDITION" EXACT [] xref: MESH:C567842 xref: NCI:C192202 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110654 name: long QT syndrome 13 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. (DO)" [PMID:20560207 "DO"] synonym: "KCNJ5-related condition" BROAD [] synonym: "LQT13" EXACT [] xref: MIM:613485 xref: MONDO:0013279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110655 name: long QT syndrome 14 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. (DO)" [PMID:24076290 "DO"] synonym: "LQT14" EXACT [] xref: MIM:616247 xref: NCI:C177534 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110656 name: long QT syndrome 15 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. (DO)" [PMID:23388215 "DO"] synonym: "LQT15" EXACT [] xref: MIM:616249 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110657 name: congenital myasthenic syndrome 8 alt_id: RDO:9000868 alt_id: RDO:9003080 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (DO)" [PMID:19631309 "DO", PMID:22205389 "DO"] synonym: "CMS8" EXACT [] synonym: "CMSPPD" EXACT [] synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [] synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [] synonym: "congenital myasthenic syndrome, with pre- and postsynaptic defects" EXACT [] xref: MIM:615120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110658 name: congenital myasthenic syndrome 15 def: "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. (DO)" [PMID:23404334 "DO"] synonym: "CMS15" EXACT [] synonym: "CMSWTA" EXACT [] synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome without tubular aggregates" EXACT [] xref: MIM:616227 xref: MONDO:0014542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0110659 name: congenital myasthenic syndrome 7 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (DO)" [PMID:25192047 "DO", PMID:25792100 "DO"] synonym: "CMS7" EXACT [] synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [] synonym: "congenital presynaptic myasthenic syndrome with or without motor neuropathy" EXACT [] synonym: "MYSPC" EXACT [] synonym: "SYT2-RELATED CONDITION" BROAD [] synonym: "SYT2-RELATED MYASTHENIA" BROAD [] xref: MIM:616040 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110660 name: congenital myasthenic syndrome 12 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (DO)" [PMID:12467753 "DO", PMID:21310273 "DO"] synonym: "CMS12" EXACT [] synonym: "CMSTA1" EXACT [] synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [] synonym: "Myasthenic Syndrome, Congenital, with Tubular Aggregates 1" EXACT [] xref: MIM:610542 xref: MONDO:0012518 xref: NCI:C168997 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110661 name: congenital myasthenic syndrome 20 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. (DO)" [PMID:27569547 "DO"] synonym: "CMS20" EXACT [] synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [] xref: MIM:617143 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110662 name: congenital myasthenic syndrome 1B def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)" [PMID:10195214 "DO", PMID:15079006 "DO", PMID:25792100 "DO"] synonym: "CHRNA1-related congenital myasthenic syndrome" BROAD [] synonym: "CMS1B" EXACT [] synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [] xref: MIM:608930 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110663 name: congenital myasthenic syndrome 1A def: "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)" [PMID:25792100 "DO", PMID:7619526 "DO"] synonym: "CHRNA1-related congenital myasthenic syndrome" BROAD [] synonym: "CMS1A" EXACT [] synonym: "CMS2A, formerly" RELATED [] synonym: "CMS IIa, formerly" RELATED [] synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [] synonym: "congenital myasthenic syndrome, postsynaptic slow-channel" EXACT [] synonym: "congenital myasthenic syndrome type IIa" RELATED [] synonym: "congenital myasthenic syndrome type IIa, formerly" RELATED [] xref: MIM:601462 xref: MONDO:0011088 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110664 name: congenital myasthenic syndrome 3C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [PMID:16916845 "DO"] synonym: "CMS3C" EXACT [] synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616323 xref: MONDO:0014585 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110665 name: congenital myasthenic syndrome 3B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [PMID:11435464 "DO", PMID:25792100 "DO"] synonym: "CMS3B" EXACT [] synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [] xref: MIM:616322 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110666 name: congenital myasthenic syndrome 3A def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [PMID:11782989 "DO", PMID:25792100 "DO"] synonym: "CMS3A" EXACT [] synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [] xref: MIM:616321 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0110667 name: congenital myasthenic syndrome 5 alt_id: MIM:603034 alt_id: OMIA:001928 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. (DO)" [PMID:25792100 "DO"] synonym: "CMS1C" EXACT [] synonym: "CMS5" EXACT [] synonym: "CMS Ic" EXACT [] synonym: "COLQ-RELATED DISORDER" EXACT [] synonym: "congenital myasthenic syndrome, COLQ-related" NARROW [] synonym: "congenital myasthenic syndrome, due to COLQ" NARROW [] synonym: "congenital myasthenic syndrome, Engel type" EXACT [] synonym: "congenital myasthenic syndrome type Ic" EXACT [] synonym: "EAD" EXACT [] synonym: "Endplate Acetylcholinesterase Deficiency" EXACT [] synonym: "end plate acetylcholinesterase deficiency" EXACT [] synonym: "Engel congenital myasthenic syndrome" EXACT [] xref: MESH:C566415 xref: NCI:C129304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110668 name: congenital myasthenic syndrome 10 alt_id: DOID:0110638 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. (DO)" [PMID:16917026 "DO", PMID:22884442 "DO", PMID:25792100 "DO"] synonym: "CMS10" EXACT [] synonym: "CMS1B (formerly)" RELATED [] synonym: "CMS Ib" EXACT [] synonym: "CMS Ib (formerly)" RELATED [] synonym: "congenital muscular dystrophy merosin-positive" EXACT [] synonym: "congenital myasthenic syndrome type Ib" EXACT [] synonym: "congenital myasthenic syndrome type IB (formerly)" RELATED [] synonym: "DOK7-related condition" BROAD [] synonym: "LGM" EXACT [] synonym: "LGM (formerly)" RELATED [] synonym: "myasthenic myopathy (formerly)" RELATED [] xref: MESH:C536089 xref: MESH:C563716 xref: MIM:254300 xref: MONDO:0009690 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110669 name: congenital myasthenic syndrome 14 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)" [PMID:23404334 "DO", PMID:24461433 "DO"] synonym: "CMS14" EXACT [] synonym: "CMSTA3" EXACT [] synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [] xref: MIM:616228 xref: MONDO:0014543 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0110670 name: congenital myasthenic syndrome 9 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (DO)" [PMID:15496425 "DO", PMID:25792100 "DO"] synonym: "CMS9" EXACT [] synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [] synonym: "MUSK-RELATED CONDITION" BROAD [] xref: MIM:616325 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110671 name: congenital myasthenic syndrome 6 alt_id: MIM:254210 alt_id: OMIA:002072 alt_id: RDO:0001050 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)" [PMID:11172068 "DO", PMID:12756141 "DO", PMID:25792100 "DO"] synonym: "CHAT-RELATED CONDITION" EXACT [] synonym: "CMS1A2" EXACT [] synonym: "CMS6" EXACT [] synonym: "CMSEA" EXACT [] synonym: "CMS Ia2" EXACT [] synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [] synonym: "congenital myasthenic syndrome associated with episodic apnea" EXACT [] synonym: "congenital myasthenic syndrome, CHAT-related" EXACT [] synonym: "congenital myasthenic syndrome, due to CHAT" EXACT [] synonym: "congenital myasthenic syndrome type 1a" EXACT [] synonym: "congenital myasthenic syndrome type Ia" EXACT [] synonym: "congenital myasthenic syndrome type Ia2" EXACT [] synonym: "congenital myasthenic syndrome with episodic apnea" EXACT [] synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT [] synonym: "FIM" EXACT [] synonym: "FIMG2" EXACT [] synonym: "Myasthenia familial infantile" EXACT [] synonym: "MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2" EXACT [] xref: MESH:C535759 xref: NCI:C132292 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:437 ! myasthenia gravis is_a: DOID:9004992 ! Apnea [Term] id: DOID:0110672 name: congenital myasthenic syndrome 21 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (DO)" [PMID:20123977 "DO", PMID:27590285 "DO"] synonym: "CMS21" EXACT [] synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [] synonym: "SLC18A3-RELATED CONDITION" EXACT [] xref: MIM:617239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110673 name: congenital myasthenic syndrome 19 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)" [PMID:26626625 "DO"] synonym: "CMS19" EXACT [] synonym: "COL13A1-RELATED CONDITION" EXACT [] xref: MIM:616720 xref: MONDO:0014745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2016-01-14T00:00:00Z [Term] id: DOID:0110674 name: congenital myasthenic syndrome 17 def: "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [PMID:24234652 "DO"] synonym: "CMS17" EXACT [] xref: MIM:616304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110675 name: congenital myasthenic syndrome 11 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (DO)" [PMID:12651869 "DO", PMID:25792100 "DO"] synonym: "CMS11" EXACT [] synonym: "CMS1E" EXACT [] synonym: "CMS IE" EXACT [] synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [] synonym: "congenital myasthenic syndrome 1E" EXACT [] synonym: "congenital myasthenic syndrome IE" EXACT [] xref: MESH:C563831 xref: MIM:616326 xref: MONDO:0014588 xref: NCI:C177546 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9008585 ! Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0110676 name: congenital myasthenic syndrome 13 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)" [PMID:16870884 "DO", PMID:22742743 "DO"] synonym: "CMS13" EXACT [] synonym: "CMSTA2" EXACT [] synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [] xref: MIM:614750 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110677 name: congenital myasthenic syndrome 4B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)" [PMID:25792100 "DO", PMID:8755487 "DO"] synonym: "CMS4B" EXACT [] synonym: "congenital myasthenic syndrome 4B, fast-channel" EXACT [] xref: MIM:616324 xref: MONDO:0014586 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel is_a: DOID:9008786 ! congenital myasthenic syndrome 4 created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110678 name: congenital myasthenic syndrome 4A alt_id: MIM:605809 def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)" [PMID:12141316 "DO", PMID:25792100 "DO", PMID:7531341 "DO"] synonym: "CMS1A1" EXACT [] synonym: "CMS4A" EXACT [] synonym: "CMS Ia1" EXACT [] synonym: "congenital myasthenic syndrome 4A, slow-channel" EXACT [] synonym: "Congenital Myasthenic Syndrome Type Ia1" EXACT [] synonym: "congenital myasthenic syndrometype Ia1" EXACT [] synonym: "Myasthenia, Familial Infantile, 1" EXACT [] xref: MESH:C565289 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008786 ! congenital myasthenic syndrome 4 [Term] id: DOID:0110679 name: congenital myasthenic syndrome 4C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)" [PMID:25792100 "DO", PMID:8957026 "DO"] synonym: "CMS1D" EXACT [] synonym: "CMS4C" EXACT [] synonym: "CMS Id" EXACT [] synonym: "congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency" EXACT [] synonym: "congenital myasthenic syndrome type Id" EXACT [] synonym: "familial infantile myasthenia 1" EXACT [] synonym: "familial infantile myasthenia 1 (formerly)" RELATED [] synonym: "FIM1" EXACT [] synonym: "FIM1 (formerly)" RELATED [] synonym: "Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency" EXACT [] synonym: "postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency" EXACT [] xref: MESH:C536090 xref: MESH:C565289 xref: MIM:608931 xref: NCI:C174216 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008786 ! congenital myasthenic syndrome 4 [Term] id: DOID:0110680 name: congenital myasthenic syndrome 2C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)" [PMID:10562302 "DO", PMID:25792100 "DO"] synonym: "CMS2C" EXACT [] synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616314 xref: MONDO:0014582 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9008585 ! Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0110681 name: congenital myasthenic syndrome 2A alt_id: RDO:9003082 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)" [PMID:25792100 "DO", PMID:8872460 "DO"] synonym: "CMS2A" EXACT [] synonym: "CMS IIA" EXACT [] synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [] xref: MIM:616313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110682 name: congenital myasthenic syndrome 16 def: "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. (DO)" [PMID:12766226 "DO"] synonym: "CMS16" EXACT [] synonym: "congenital myasthenic syndrome, acetazolamide-responsive" EXACT [] synonym: "myasthenic syndrome due to mutation in SCN4A" EXACT [] xref: MESH:C565830 xref: MIM:614198 xref: MONDO:0013620 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110683 name: congenital myasthenic syndrome 18 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. (DO)" [PMID:25381298 "DO"] synonym: "CMS18" EXACT [] synonym: "congenital myasthenic syndrome 18 with intellectual disability and ataxia" NARROW [] synonym: "DEE117" EXACT [] synonym: "developmental and epileptic encephalopathy 117" EXACT [] xref: MIM:616330 xref: MONDO:0014590 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-10T00:00:00Z [Term] id: DOID:0110698 name: hypotrichosis 1 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. (DO)" [PMID:10878665 "DO"] synonym: "APCDD1-RELATED CONDITION" EXACT [] synonym: "hereditary generalized hypotrichosis simplex" EXACT [] synonym: "hereditary generelized hypotrichosis simplex" EXACT [] synonym: "hereditary hypotrichosis simplex" EXACT [] synonym: "HHS" EXACT [] synonym: "HTS" EXACT [] synonym: "hypotrichosis simplex" EXACT [] synonym: "HYPT1" EXACT [] xref: MESH:C537160 xref: MIM:605389 xref: MONDO:0011549 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110699 name: hypotrichosis 2 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. (DO)" [PMID:12754508 "DO"] synonym: "CDSN-RELATED CONDITION" BROAD [] synonym: "HTSS" EXACT [] synonym: "HTSS1" EXACT [] synonym: "hypotrichosis simplex of scalp" EXACT [] synonym: "hypotrichosis simplex of the scalp 1" EXACT [] synonym: "hypotrichosis, Spanish type" EXACT [] synonym: "HYPT2" EXACT [] xref: MESH:C564143 xref: MIM:146520 xref: MONDO:0007805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110700 name: hypotrichosis 3 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. (DO)" [PMID:21188418 "DO"] synonym: "HTSS2" EXACT [] synonym: "HYPOTRICHOSIS SIMPLEX OF THE SCALP 2" EXACT [] synonym: "HYPT3" EXACT [] xref: MIM:613981 xref: MONDO:0013514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110701 name: hypotrichosis 4 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. (DO)" [PMID:19122663 "DO"] synonym: "HYPT4" EXACT [] synonym: "Marie Unna congenital hypotrichosis" EXACT [] synonym: "Marie Unna hereditary hypotrichosis" EXACT [] synonym: "Marie Unna hereditary hypotrichosis 1" EXACT [] synonym: "Marie Unna type hypotrichosis" EXACT [] synonym: "Marie Unna type hypotrichosis 1" EXACT [] synonym: "MUHH1" EXACT [] xref: MESH:C535912 xref: MESH:C567718 xref: MIM:146550 xref: MONDO:0100522 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110702 name: hypotrichosis 5 def: "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. (DO)" [PMID:16185270 "DO"] synonym: "EPS8L3-RELATED CONDITION" EXACT [] synonym: "HYPT5" EXACT [] synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [] synonym: "MUHH2" EXACT [] xref: MESH:C567554 xref: MIM:612841 xref: MONDO:0013017 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110703 name: hypotrichosis 6 def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. (DO)" [PMID:12891384 "DO"] synonym: "DSG4-RELATED CONDITION" EXACT [] synonym: "HTL" EXACT [] synonym: "HYPT6" EXACT [] synonym: "LAH" EXACT [] synonym: "LAH1" EXACT [] synonym: "localized hypotrichosis, autosomal recessive" EXACT [] synonym: "localized hypotrichosis, autosomal recessive 1" EXACT [] synonym: "MONILETHRIX-LIKE HYPOTRICHOSIS" EXACT [] xref: MESH:C564312 xref: MIM:607903 xref: MONDO:0011932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110704 name: hypotrichosis 7 def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. (DO)" [PMID:20393562 "DO"] synonym: "alopecia universalis congenita, Mari type" EXACT [] synonym: "Hypotrichosis, Autosomal Recessive" BROAD [] synonym: "Hypotrichosis, Localized, Autosomal Recessive, 2" EXACT [] synonym: "HYPT7" EXACT [] synonym: "LAH2" EXACT [] synonym: "LIPH-RELATED CONDITION" EXACT [] synonym: "total hypotrichosis, Mari type" EXACT [] synonym: "total hyptrichosis, Mari type" EXACT [] synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" BROAD [] xref: EFO:0009163 xref: MESH:C536973 xref: MIM:604379 xref: MONDO:0011452 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis is_a: DOID:987 ! alopecia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110705 name: hypotrichosis 8 def: "A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. (DO)" [PMID:18297072 "DO"] synonym: "ARWH1" NARROW [] synonym: "autosomal recessive woolly hair 1, with or without hypotrichosis" NARROW [] synonym: "HYPT8" EXACT [] synonym: "LAH3" EXACT [] synonym: "localized hypotrichosis, autosomal recessive 3" EXACT [] synonym: "LPAR6-RELATED DISORDER" EXACT [] xref: MESH:C566950 xref: MIM:278150 xref: MONDO:0010206 xref: ORDO:55654 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110706 name: hypotrichosis 9 def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. (DO)" [PMID:20054564 "DO"] synonym: "HYPT9" EXACT [] xref: MIM:614237 xref: MONDO:0013649 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110707 name: hypotrichosis 10 def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. (DO)" [PMID:20544222 "DO"] synonym: "HYPT10" EXACT [] xref: MIM:614238 xref: MONDO:0013650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110708 name: hypotrichosis 11 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. (DO)" [PMID:23246290 "DO"] synonym: "HYPT11" EXACT [] synonym: "SNRPE-RELATED DISORDER" EXACT [] xref: MIM:615059 xref: MONDO:0014027 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110709 name: hypotrichosis 12 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. (DO)" [PMID:21412954 "DO"] synonym: "hypotrichosis type 12" EXACT [] synonym: "HYPT12" EXACT [] xref: MIM:615885 xref: MONDO:0014384 xref: ORDO:55654 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-04-27T00:00:00Z [Term] id: DOID:0110710 name: hypotrichosis 13 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. (DO)" [PMID:22592156 "DO"] synonym: "hypotrichosis with woolly hair" RELATED [] synonym: "HYPT13" EXACT [] synonym: "KRT71-related condition" BROAD [] xref: MIM:615896 xref: MONDO:0014390 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-04-27T00:00:00Z [Term] id: DOID:0110711 name: congenital hypotrichosis with juvenile macular dystrophy def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. (DO)" [PMID:11544476 "DO"] synonym: "CDH3-RELATED CONDITION" BROAD [] synonym: "HJMD" EXACT [] synonym: "hypotrichosis with cone-rod dystrophy" EXACT [] synonym: "hypotrichosis with juvenile macular dystrophy" EXACT [] synonym: "juvenile macular degeneration and hypotrichosis" EXACT [] synonym: "juvenile macular dystrophy and congenital hypotrichosis" EXACT [] xref: GARD:3066 xref: MESH:C537698 xref: MIM:601553 xref: MONDO:0011107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:4448 ! macular degeneration is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110712 name: Oguchi disease-1 def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. (DO)" [PMID:15234147 "DO", PMID:7670478 "DO"] synonym: "congenital stationary night blindness Oguchi type 1" EXACT [] synonym: "CSNBO1" EXACT [] xref: MIM:258100 xref: MONDO:0009775 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0110713 name: Oguchi disease-2 def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)" [PMID:7670478 "DO", PMID:9020843 "DO"] synonym: "congenital stationary night blindness Oguchi type 2" EXACT [] synonym: "CSNBO2" EXACT [] xref: MIM:613411 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0110714 name: congenital stationary night blindness 1G alt_id: RDO:9001516 def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)" [PMID:22190596 "DO"] synonym: "congenital stationary night blindness type 1G" EXACT [] synonym: "CSNB1G" EXACT [] synonym: "GNAT1-RELATED CONDITION" BROAD [] xref: MIM:616389 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-03-30T00:00:00Z [Term] id: DOID:0110715 name: congenital stationary night blindness autosomal dominant 3 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)" [PMID:8673138 "DO"] synonym: "CSNBAD3" EXACT [] synonym: "GNAT1-related condition" BROAD [] synonym: "Nougaret type congenital stationary night blindness" EXACT [] xref: MESH:C566475 xref: MIM:610444 xref: MONDO:0012497 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110716 name: Warburg micro syndrome 1 def: "A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. (DO)" [PMID:20512159 "DO"] synonym: "Micro Syndrome 1" EXACT [] synonym: "RAB3GAP1-RELATED CONDITION" BROAD [] synonym: "RAB3GAP1-RELATED DISORDER" BROAD [] synonym: "WARBM1" EXACT [] xref: MIM:600118 xref: MONDO:0010822 is_a: DOID:0060237 ! Warburg micro syndrome created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110717 name: Warburg micro syndrome 2 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (DO)" [PMID:20967465 "DO"] synonym: "MICRO SYNDROME 2" EXACT [] synonym: "WARBM2" EXACT [] xref: MIM:614225 xref: MONDO:0013641 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110718 name: Warburg micro syndrome 3 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. (DO)" [PMID:15216543 "DO"] synonym: "MICRO SYNDROME 3" EXACT [] synonym: "RAB18-related condition" BROAD [] synonym: "WARBM3" EXACT [] xref: ICD10CM:Q87.0 xref: MIM:614222 xref: MONDO:0013638 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110719 name: Warburg micro syndrome 4 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. (DO)" [PMID:24239381 "DO"] synonym: "micro syndrome 4" EXACT [] synonym: "TBC1D20-related condition" BROAD [] synonym: "WARBM4" EXACT [] xref: MIM:615663 xref: MONDO:0014296 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110720 name: neuronal ceroid lipofuscinosis 4 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13. (DO)" [PMID:21820099 "DO", PMID:22073189 "DO"] synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [] synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B (Kufs type)" EXACT [] synonym: "CLN4B" EXACT [] synonym: "CLN4B disease" EXACT [] synonym: "DNAJC5-RELATED DISORDER" EXACT [] synonym: "Kufs disease, autosomal dominant" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4 Parry type" EXACT [] xref: MIM:162350 xref: NCI:C128116 xref: ORDO:228343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110721 name: neuronal ceroid lipofuscinosis 1 def: "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. (DO)" [PMID:7637805 "DO"] synonym: "CLN1" EXACT [] synonym: "INCL" EXACT [] synonym: "infantile neuronal ceroid lipofuscinosis (INCL)" EXACT [] synonym: "neuronal ceroid lipofuscinosis 1, infantile" EXACT [] synonym: "neuronal ceroid lipofuscinosis 1, variable age of onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis, infantile" EXACT [] synonym: "neuronal ceroid lipofuscinosis, infantile Finnish type" EXACT [] synonym: "PPT1-related condition" BROAD [] synonym: "Santavuori disease" EXACT [] synonym: "Santavuori-Haltia disease" EXACT [] xref: GARD:1219 xref: MESH:C537948 xref: MESH:C564953 xref: MIM:256730 xref: MONDO:0009744 xref: OMIA:001504 xref: ORDO:228329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110722 name: neuronal ceroid lipofuscinosis 7 def: "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. (DO)" [PMID:17564970 "DO"] synonym: "CLN7" EXACT [] synonym: "MFSD8-RELATED CONDITION" BROAD [] xref: GARD:1220 xref: MESH:C563989 xref: MIM:610951 xref: MONDO:0012588 xref: OMIA:001962 xref: ORDO:228366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110723 name: neuronal ceroid lipofuscinosis 8 alt_id: MIM:600143 alt_id: OMIA:001506 def: "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. (DO)" [PMID:15024724 "DO", PMID:15074367 "DO", PMID:15965709 "DO"] synonym: "CLN8" EXACT [] synonym: "CLN8-RELATED DISORDER" BROAD [] xref: MESH:C537952 xref: ORDO:228354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110724 name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant def: "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (DO)" [PMID:8014963 "DO", PMID:8743986 "DO"] synonym: "CLN8-RELATED DISORDER" BROAD [] synonym: "EPMR" EXACT [] synonym: "Northern epilepsy" EXACT [] synonym: "Northern epilepsy syndrome" EXACT [] synonym: "Northern epilepsy variant" EXACT [] synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [] synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [] synonym: "progressive epilepsy with mental retardation" EXACT [] synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT [] xref: GARD:2163 xref: GARD:4010 xref: MIM:610003 xref: MONDO:0012391 xref: ORDO:1947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110725 name: neuronal ceroid lipofuscinosis 10 alt_id: MIM:610127 alt_id: OMIA:001505 def: "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)" [PMID:16685649 "DO"] synonym: "cathepsin D deficiency" EXACT [] synonym: "Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient" EXACT [] synonym: "CLN10" EXACT [] synonym: "congenital neuronal ceroid lipofuscinosis" EXACT [] synonym: "CTSD-RELATED DISORDER" EXACT [] synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [] synonym: "NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL" NARROW [] xref: GARD:1218 xref: MESH:C566438 xref: ORDO:228337 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110726 name: neuronal ceroid lipofuscinosis 2 def: "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)" [PMID:15965709 "DO", PMID:18684116 "DO"] synonym: "CLN2" EXACT [] synonym: "Jansky-Bielschowsky disease" EXACT [] synonym: "LINCL" RELATED [] synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [] synonym: "NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE" RELATED [] synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [] synonym: "TPP1-RELATED CONDITION" BROAD [] xref: GARD:3045 xref: MESH:C566857 xref: MIM:204500 xref: MONDO:0008769 xref: NCI:C85864 xref: OMIA:001472 xref: ORDO:228349 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110727 name: neuronal ceroid lipofuscinosis 13 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. (DO)" [PMID:23297359 "DO"] synonym: "CLN13" EXACT [] synonym: "CTSF-RELATED CONDITION" EXACT [] synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [] xref: ICD10CM:E75.4 xref: MIM:615362 xref: ORDO:352709 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110728 name: neuronal ceroid lipofuscinosis 5 def: "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (DO)" [PMID:15965709 "DO", PMID:9662406 "DO"] synonym: "CLN5" EXACT [] synonym: "CLN5-RELATED DISORDER" EXACT [] synonym: "Finnish vLINCL" NARROW [] synonym: "neuronal ceroid lipofuscinosis 5, variable age at onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis, Finnish variant, late infantile" NARROW [] synonym: "vLINCL" BROAD [] xref: GARD:1223 xref: MESH:C575534 xref: MIM:256731 xref: MONDO:0009745 xref: OMIA:001482 xref: ORDO:228360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110729 name: neuronal ceroid lipofuscinosis 6A alt_id: MIM:601780 alt_id: OMIA:001443 def: "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (DO)" [PMID:15965709 "DO", PMID:15996215 "DO"] synonym: "CLN6" EXACT [] synonym: "CLN6A" EXACT [] synonym: "CLN6-RELATED DISORDER" BROAD [] synonym: "neuronal ceroid lipofuscinosis 6" EXACT [] synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis, late infantile variant" BROAD [] synonym: "vLINCL" BROAD [] xref: GARD:1224 xref: MESH:C566627 xref: ORDO:228363 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110730 name: neuronal ceroid lipofuscinosis 6B def: "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (DO)" [PMID:15965709 "DO", PMID:21549341 "DO"] synonym: "CLN4A" EXACT [] synonym: "CLN6B" EXACT [] synonym: "CLN6-RELATED DISORDER" BROAD [] synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4A (Kufs type), autosomal recessive" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4A, autosomal recessive" EXACT [] xref: MIM:204300 xref: ORDO:228340 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110731 name: neuronal ceroid lipofuscinosis 3 def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (DO)" [https://ghr.nlm.nih.gov/condition/cln3-disease "DO", PMID:15965709 "DO", PMID:7553855 "DO"] synonym: "Batten disease" EXACT [] synonym: "Batten Spielmeyer Vogt disease" EXACT [] synonym: "CLN3" EXACT [] synonym: "CLN3-RELATED DISORDER" EXACT [] synonym: "CLN3-related neuronal ceroid lipofuscinoses" EXACT [] synonym: "CLN3-related neuronal ceroid lipofuscinosis" EXACT [] synonym: "JNCL" EXACT [] synonym: "Juvenile Batten Disease" EXACT [] synonym: "Juvenile Batten Diseases" EXACT [] synonym: "Juvenile Neuronal Ceroid Lipofuscinosis" EXACT [] synonym: "juvenile neuronal ceroid lipofuscinosis 3" EXACT [] synonym: "neuronal ceroid lipofuscinosis, juvenile type" EXACT [] synonym: "protracted neuronal ceroid lipofuscinosis 3" NARROW [] synonym: "Spielmeyer Sjogren disease" EXACT [] synonym: "Spielmeyer-Sjogren diseases" EXACT [] synonym: "Vogt-Spielmeyer disease" EXACT [] synonym: "Vogt-Spielmeyer diseases" EXACT [] xref: GARD:5897 xref: MIM:204200 xref: MONDO:0008767 xref: NCI:C61258 xref: ORDO:228346 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2016-09-06T00:00:00Z [Term] id: DOID:0110732 name: neuronal ceroid lipofuscinosis 11 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. (DO)" [PMID:22608501 "DO"] synonym: "CLN11" EXACT [] xref: MIM:614706 xref: MONDO:0013866 xref: ORDO:314629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110733 name: neuronal ceroid lipofuscinosis 9 alt_id: MIM:609055 def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures. (DO)" [PMID:15349861 "DO"] synonym: "CLN9" EXACT [] xref: GARD:6618 xref: MESH:C537953 xref: ORDO:228357 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110734 name: neurodegeneration with brain iron accumulation def: "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)" [https://rarediseases.info.nih.gov/diseases/11899/index "DO", https://www.ninds.nih.gov/health-information/disorders/neurodegeneration-brain-iron-accumulation "DO", PMID:18981035 "DO"] synonym: "iron accumulation in brain" RELATED [] synonym: "NBIA" EXACT [] synonym: "neuroaxonal dystrophy, PLA2G6-related" NARROW [] synonym: "neurodegeneration with brain iron accumulation (NBIA)" EXACT [] synonym: "neurodegeneration with brain iron accumulation 1, atypical" NARROW [] xref: GARD:11899 xref: MESH:C538421 xref: MIM:PS234200 xref: MONDO:0018307 xref: OMIA:002105 xref: ORDO:385 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2351 ! iron metabolism disease is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0110735 name: neurodegeneration with brain iron accumulation 2A def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. (DO)" [PMID:18443314 "DO"] synonym: "INAD" EXACT [] synonym: "INAD1" EXACT [] synonym: "infantile neuroaxonal dystrophy" EXACT [] synonym: "Infantile neuroaxonal dystrophy 1" EXACT [] synonym: "NBIA2A" EXACT [] synonym: "neurodegeneration, PLA2G6-associated" EXACT [] synonym: "PLAN" EXACT [] synonym: "Seitelberger's disease" EXACT [] synonym: "Seitelberger disease" EXACT [] synonym: "Seitelbergers disease" EXACT [] xref: GARD:2751 xref: MIM:256600 xref: NCI:C202073 xref: NCI:C84927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110736 name: neurodegeneration with brain iron accumulation 2B alt_id: MIM:610217 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. (DO)" [PMID:18799783 "DO"] synonym: "atypical neuroaxonal dystrophy" EXACT [] synonym: "NBIA2B" EXACT [] synonym: "NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME" NARROW [] synonym: "Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related" EXACT [] xref: MESH:C565699 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110737 name: neurodegeneration with brain iron accumulation 3 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. (DO)" [PMID:16116125 "DO"] synonym: "adult basal ganglia disease" EXACT [] synonym: "basal ganglia disease, adult-onset" EXACT [] synonym: "ferritin-related neurodegeneration" EXACT [] synonym: "hereditary ferritinopathy" EXACT [] synonym: "NBIA3" EXACT [] synonym: "neuroferritinopathy" EXACT [] synonym: "neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [] xref: MESH:C548080 xref: MIM:606159 xref: MONDO:0011638 xref: ORDO:157846 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110738 name: neurodegeneration with brain iron accumulation 4 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. (DO)" [PMID:23269600 "DO"] synonym: "C19ORF12-RELATED CONDITION" BROAD [] synonym: "MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION" EXACT [] synonym: "MPAN" EXACT [] synonym: "NBIA4" EXACT [] synonym: "NBIA due to C19orf12 mutation" EXACT [] synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [] synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [] xref: MIM:614298 xref: NCI:C175707 xref: ORDO:289560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110739 name: neurodegeneration with brain iron accumulation 5 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. (DO)" [PMID:23176820 "DO"] synonym: "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION" EXACT [] synonym: "BPAN" EXACT [] synonym: "NBIA5" EXACT [] synonym: "SENDA" EXACT [] synonym: "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD" EXACT [] xref: MIM:300894 xref: NCI:C175210 xref: ORDO:329284 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110740 name: neurodegeneration with brain iron accumulation 6 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. (DO)" [PMID:24360804 "DO"] synonym: "COASY protein-associated neurodegeneration" EXACT [] synonym: "COASY-RELATED CONDITION" BROAD [] synonym: "CoPAN" EXACT [] synonym: "NBIA6" EXACT [] synonym: "Neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [] xref: ICD10CM:G23.0 xref: MIM:615643 xref: MONDO:0014290 xref: ORDO:397725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110741 name: type 1 diabetes mellitus 2 alt_id: MIM:125852 def: "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)" [PMID:6363172 "DO"] synonym: "IDDM2" EXACT [] synonym: "insulin-dependent diabetes mellitus 2" EXACT [] synonym: "T1D2" EXACT [] xref: MESH:C565100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110742 name: type 1 diabetes mellitus 3 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. (DO)" [PMID:7842018 "DO"] synonym: "IDDM3" EXACT [] synonym: "insulin-dependent diabetes mellitus 3" EXACT [] synonym: "T1D3" EXACT [] xref: MESH:C563960 xref: MIM:600318 xref: MONDO:0010861 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110743 name: type 1 diabetes mellitus 4 alt_id: MIM:600319 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. (DO)" [PMID:9683605 "DO"] synonym: "IDDM4" EXACT [] synonym: "insulin-dependent diabetes mellitus 4" EXACT [] synonym: "T1D4" EXACT [] xref: MESH:C563959 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110744 name: type 1 diabetes mellitus 5 alt_id: MIM:600320 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. (DO)" [PMID:15247916 "DO"] synonym: "IDDM5" EXACT [] synonym: "insulin-dependent diabetes mellitus 5" EXACT [] synonym: "T1D5" EXACT [] xref: MESH:C563958 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110745 name: type 1 diabetes mellitus 6 alt_id: MIM:601941 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. (DO)" [PMID:9215667 "DO"] synonym: "AITD5" NARROW [] synonym: "autoimmune thyroid disease, susceptibility to, 5" NARROW [] synonym: "IDDM6" EXACT [] synonym: "insulin-dependent diabetes mellitus 6" EXACT [] synonym: "T1D6" EXACT [] xref: MESH:C566603 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110746 name: type 1 diabetes mellitus 7 alt_id: MIM:600321 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. (DO)" [PMID:7704030 "DO"] synonym: "IDDM7" EXACT [] synonym: "insulin-dependent diabetes mellitus 7" EXACT [] synonym: "T1D7" EXACT [] xref: MESH:C563957 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110747 name: type 1 diabetes mellitus 8 alt_id: MIM:600883 def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. (DO)" [PMID:7573053 "DO"] synonym: "IDDM8" EXACT [] synonym: "insulin-dependent diabetes mellitus 8" EXACT [] synonym: "T1D8" EXACT [] xref: MESH:C563433 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110749 name: type 1 diabetes mellitus 10 alt_id: MIM:601942 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. (DO)" [PMID:8072542 "DO"] synonym: "IDDM10" EXACT [] synonym: "IL2RA-RELATED DISORDER" RELATED [] synonym: "insulin-dependent diabetes mellitus 10" EXACT [] synonym: "T1D10" EXACT [] xref: MESH:C566602 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110750 name: type 1 diabetes mellitus 11 alt_id: MIM:601208 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. (DO)" [PMID:8617492 "DO"] synonym: "IDDM11" EXACT [] synonym: "insulin-dependent diabetes mellitus 11" EXACT [] synonym: "T1D11" EXACT [] xref: MESH:C563371 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110751 name: type 1 diabetes mellitus 12 alt_id: MIM:601388 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. (DO)" [PMID:8817351 "DO"] synonym: "IDDM12" EXACT [] synonym: "insulin-dependent diabetes mellitus 12" EXACT [] synonym: "T1D12" EXACT [] xref: MESH:C563326 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110752 name: type 1 diabetes mellitus 13 alt_id: MIM:601318 def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. (DO)" [PMID:8650584 "DO"] synonym: "IDDM13" EXACT [] synonym: "insulin-dependent diabetes mellitus 13" EXACT [] synonym: "T1D13" EXACT [] xref: MESH:C563352 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110753 name: type 1 diabetes mellitus 15 alt_id: MIM:601666 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. (DO)" [PMID:8981961 "DO"] synonym: "IDDM15" EXACT [] synonym: "insulin-dependent diabetes mellitus 15" EXACT [] synonym: "T1D15" EXACT [] xref: MESH:C566645 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110754 name: type 1 diabetes mellitus 17 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. (DO)" [PMID:9788970 "DO"] synonym: "IDDM17" EXACT [] synonym: "insulin-dependent diabetes mellitus 17" EXACT [] synonym: "T1D17" EXACT [] xref: MESH:C566395 xref: MIM:603266 xref: MONDO:0011302 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110755 name: type 1 diabetes mellitus 18 alt_id: MIM:605598 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. (DO)" [PMID:11175794 "DO"] synonym: "IDDM18" EXACT [] synonym: "insulin-dependent diabetes mellitus 18" EXACT [] synonym: "T1D18" EXACT [] xref: ICD10CM:E10 xref: MESH:C565315 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110756 name: type 1 diabetes mellitus 19 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. (DO)" [PMID:16699517 "DO"] synonym: "IDDM19" EXACT [] synonym: "insulin-dependent diabetes mellitus 19" EXACT [] synonym: "T1D19" EXACT [] xref: MESH:C565715 xref: MIM:610155 xref: MONDO:0012422 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110757 name: type 1 diabetes mellitus 20 alt_id: MIM:612520 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. (DO)" [PMID:9313763 "DO"] synonym: "IDDM20" EXACT [] synonym: "insulin-dependent diabetes mellitus 20" EXACT [] synonym: "T1D20" EXACT [] xref: MESH:C567286 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110758 name: type 1 diabetes mellitus 21 alt_id: MIM:612521 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. (DO)" [PMID:19073967 "DO"] synonym: "IDDM21" EXACT [] synonym: "insulin-dependent diabetes mellitus 21" EXACT [] synonym: "T1D21" EXACT [] xref: MESH:C567285 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110759 name: type 1 diabetes mellitus 22 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. (DO)" [PMID:19073967 "DO"] synonym: "IDDM22" EXACT [] synonym: "insulin-dependent diabetes mellitus 22" EXACT [] synonym: "T1D22" EXACT [] xref: MESH:C567284 xref: MIM:612522 xref: MONDO:0012921 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110760 name: type 1 diabetes mellitus 23 alt_id: MIM:612622 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. (DO)" [PMID:8072542 "DO"] synonym: "IDDM23" EXACT [] synonym: "insulin-dependent diabetes mellitus 23" EXACT [] synonym: "T1D23" EXACT [] xref: MESH:C567233 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110761 name: type 1 diabetes mellitus 24 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. (DO)" [PMID:19430480 "DO"] synonym: "IDDM24" EXACT [] synonym: "insulin-dependent diabetes mellitus 24" EXACT [] synonym: "T1D24" EXACT [] xref: MESH:C567818 xref: MIM:613006 xref: MONDO:0013078 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110763 name: hereditary spastic paraplegia 10 alt_id: MIM:604187 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)" [PMID:12355402 "DO"] synonym: "autosomal dominant spastic paraplegia" BROAD [] synonym: "autosomal dominant spastic paraplegia 10" EXACT [] synonym: "autosomal dominant spastic paraplegia type 10" EXACT [] synonym: "spastic paraplegia 10 with or without peripheral neuropathy" EXACT [] synonym: "SPG10" EXACT [] xref: GARD:9590 xref: MESH:C537482 xref: ORDO:100991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110764 name: hereditary spastic paraplegia 11 alt_id: MESH:C538335 alt_id: MIM:604360 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [PMID:17322883 "DO"] synonym: "autosomal recessive spastic paraplegia 11" EXACT [] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [] synonym: "autosomal recessive spastic paraplegia type 11" EXACT [] synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [] synonym: "GAIT DISTURBANCE" NARROW [] synonym: "Hsp-Tcc" EXACT [] synonym: "Nakamura-Osame syndrome" EXACT [] synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [] synonym: "spastic paraplegia, mental retardation and thin corpus callosum" EXACT [] synonym: "spastic paraplegia type 11" EXACT [] synonym: "SPG11" EXACT [] synonym: "SPG11-related hereditary spastic paraplegia with thin corpus callosum" EXACT [] xref: GARD:4919 xref: MESH:C537483 xref: ORDO:2822 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0110765 name: hereditary spastic paraplegia 12 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. (DO)" [PMID:22232211 "DO"] synonym: "autosomal dominant spastic paraplegia 12" EXACT [] synonym: "autosomal dominant spastic paraplegia type 12" EXACT [] synonym: "RTN2-RELATED CONDITION" EXACT [] synonym: "SPG12" EXACT [] xref: GARD:9586 xref: MESH:C537484 xref: MIM:604805 xref: MONDO:0011489 xref: ORDO:100993 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110766 name: hereditary spastic paraplegia 13 def: "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. (DO)" [PMID:11898127 "DO"] synonym: "autosomal dominant spastic paraplegia 13" EXACT [] synonym: "HSPD1-RELATED CONDITION" BROAD [] synonym: "SPG13" EXACT [] xref: GARD:9616 xref: MESH:C537485 xref: MIM:605280 xref: MONDO:0011532 xref: ORDO:100994 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110767 name: hereditary spastic paraplegia 14 alt_id: MIM:605229 alt_id: RDO:0003332 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. (DO)" [PMID:10877981 "DO"] synonym: "autosomal recessive spastic paraplegia 14" EXACT [] synonym: "autosomal recessive spastic paraplegia type 14" EXACT [] synonym: "SPG14" EXACT [] xref: GARD:9589 xref: MESH:C537486 xref: ORDO:100995 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110768 name: hereditary spastic paraplegia 15 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. (DO)" [PMID:18394578 "DO"] synonym: "autosomal recessive spastic paraplegia 15" EXACT [] synonym: "autosomal recessive spastic paraplegia type 15" EXACT [] synonym: "hereditary spastic paraparesis type 15" EXACT [] synonym: "Kjellin syndrome" EXACT [] synonym: "recessive spastic paraplegia with retinal degeneration" EXACT [] synonym: "spastic paraplegia 15" EXACT [] synonym: "spastic paraplegia and retinal degeneration" EXACT [] synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [] synonym: "SPG15" EXACT [] synonym: "ZFYVE26-related condition" BROAD [] xref: GARD:9581 xref: MESH:C536642 xref: MIM:270700 xref: MONDO:0010044 xref: ORDO:100996 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0110769 name: hereditary spastic paraplegia 16 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. (DO)" [PMID:9254866 "DO"] synonym: "SPG16" EXACT [] synonym: "X-linked spastic paraplegia 16" EXACT [] synonym: "X-linked spastic paraplegia type 16" EXACT [] xref: GARD:9585 xref: MESH:C536643 xref: MIM:300266 xref: MONDO:0010287 xref: ORDO:100997 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110770 name: hereditary spastic paraplegia 17 alt_id: MIM:270685 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)" [PMID:14981520 "DO"] synonym: "autosomal dominant spastic paraplegia 17" EXACT [] synonym: "autosomal dominant spastic paraplegia type 17" EXACT [] synonym: "dHMN5B" RELATED [] synonym: "distal hereditary motor neuropathy type 5B" RELATED [] synonym: "Silver spastic paraplegia syndrome" EXACT [] synonym: "Silver syndrome" EXACT [] synonym: "spastic paraplegia 17" EXACT [] synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [] synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [] synonym: "SPG17" EXACT [] xref: GARD:4219 xref: MESH:C536644 xref: ORDO:100998 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110771 name: hereditary spastic paraplegia 18 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. (DO)" [PMID:21330303 "DO"] synonym: "ERLIN2-related condition" BROAD [] synonym: "SPG18" EXACT [] xref: GARD:4922 xref: MESH:C567628 xref: ORDO:209951 is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110772 name: hereditary spastic paraplegia 19 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. (DO)" [PMID:12112072 "DO"] synonym: "autosomal dominant spastic paraplegia 19" EXACT [] synonym: "autosomal dominant spastic paraplegia type 19" EXACT [] synonym: "SPG19" EXACT [] xref: GARD:9588 xref: MESH:C536856 xref: MIM:607152 xref: MONDO:0011785 xref: ORDO:100999 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110773 name: hereditary spastic paraplegia 2 alt_id: MIM:312920 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)" [PMID:8012387 "DO"] synonym: "PLP1-RELATED DISORDER" BROAD [] synonym: "spastic paraplegia 2" EXACT [] synonym: "spastic paraplegia type 2" EXACT [] synonym: "SPG2" EXACT [] synonym: "SPPX2" EXACT [] synonym: "X-linked spastic paraplegia 2" EXACT [] xref: GARD:4923 xref: MESH:C536857 xref: ORDO:99015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110774 name: hereditary spastic paraplegia 23 alt_id: MIM:270750 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. (DO)" [PMID:14681889 "DO"] synonym: "Abdallat Davis Farrage syndrome" EXACT [] synonym: "Abdallat syndrome" EXACT [] synonym: "DSTYK-RELATED CONDITION" BROAD [] synonym: "Lison syndrome" EXACT [] synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" EXACT [] synonym: "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [] synonym: "spastic paraplegia 23" EXACT [] synonym: "spastic paraplegia and pigmentary abnormalities" EXACT [] synonym: "spastic paraplegia, vitiligo, premature graying and characteristic facies" EXACT [] synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [] synonym: "SPG23" EXACT [] xref: GARD:336 xref: MESH:C536859 xref: ORDO:101003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12306 ! vitiligo is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001487 ! Facies [Term] id: DOID:0110775 name: hereditary spastic paraplegia 24 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. (DO)" [PMID:12499481 "DO"] synonym: "autosomal recessive spastic paraplegia 24" EXACT [] synonym: "autosomal recessive spastic paraplegia type 24" EXACT [] synonym: "SPG24" EXACT [] xref: GARD:9296 xref: MESH:C536860 xref: MESH:C564375 xref: MIM:607584 xref: MONDO:0011862 xref: ORDO:101004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110776 name: hereditary spastic paraplegia 25 alt_id: MIM:608220 alt_id: RDO:0002574 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. (DO)" [PMID:12070243 "DO"] synonym: "autosomal recessive spastic paraplegia 25" EXACT [] synonym: "autosomal recessive spastic paraplegia type 25" EXACT [] synonym: "Disc Herniation With Spastic Paraplegia, Autosomal Recessive" EXACT [] synonym: "SPG25" EXACT [] synonym: "Spinal disc herniation with autosomal recessive spastic paraplegia" EXACT [] xref: GARD:9582 xref: MESH:C536861 xref: ORDO:101005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9006086 ! Intervertebral Disc Displacement [Term] id: DOID:0110777 name: hereditary spastic paraplegia 26 alt_id: MIM:609195 alt_id: RDO:0002575 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. (DO)" [PMID:23746551 "DO"] synonym: "autosomal recessive spastic paraplegia 26" EXACT [] synonym: "autosomal recessive spastic paraplegia type 26" EXACT [] synonym: "B4GALNT1-RELATED CONDITION" EXACT [] synonym: "GM2 synthase deficiency" EXACT [] synonym: "SPG26" EXACT [] xref: GARD:9587 xref: MESH:C536862 xref: ORDO:101006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110778 name: hereditary spastic paraplegia 27 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. (DO)" [PMID:15455396 "DO"] synonym: "autosomal recessive spastic paraplegia 27" EXACT [] synonym: "autosomal recessive spastic paraplegia type 27" EXACT [] synonym: "SPG27" EXACT [] xref: MESH:C563807 xref: MIM:609041 xref: MONDO:0012181 xref: ORDO:101007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110779 name: hereditary spastic paraplegia 28 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. (DO)" [PMID:23176821 "DO"] synonym: "autosomal recessive spastic paraplegia 28" EXACT [] synonym: "autosomal recessive spastic paraplegia type 28" EXACT [] synonym: "DDHD1-related condition" BROAD [] synonym: "SPG28" EXACT [] xref: MESH:C563732 xref: MIM:609340 xref: MONDO:0012256 xref: ORDO:101008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110780 name: hereditary spastic paraplegia 29 alt_id: MIM:609727 alt_id: RDO:0002576 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. (DO)" [PMID:16130112 "DO"] synonym: "autosomal dominant spastic paraplegia 29" EXACT [] synonym: "SPG29" EXACT [] xref: GARD:9729 xref: MESH:C536863 xref: ORDO:101009 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110781 name: hereditary spastic paraplegia 30 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)" [PMID:21487076 "DO", PMID:31488895 "DO"] synonym: "autosomal spastic paraplegia type 30" EXACT [] synonym: "SPG30" EXACT [] xref: MONDO:0012476 xref: ORDO:101010 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110782 name: hereditary spastic paraplegia 31 alt_id: MIM:610250 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. (DO)" [PMID:16826527 "DO"] synonym: "autosomal dominant spastic paraplegia 31" EXACT [] synonym: "autosomal dominant spastic paraplegia type 31" EXACT [] synonym: "SPG31" EXACT [] xref: GARD:10817 xref: MESH:C565210 xref: ORDO:101011 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110783 name: hereditary spastic paraplegia 32 alt_id: MIM:611252 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. (DO)" [PMID:17515546 "DO"] synonym: "autosomal recessive spastic paraplegia 32" EXACT [] synonym: "autosomal recessive spastic paraplegia type 32" EXACT [] synonym: "SPG32" EXACT [] xref: GARD:12749 xref: MESH:C566983 xref: ORDO:171622 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110784 name: hereditary spastic paraplegia 33 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. (DO)" [PMID:16826525 "DO"] synonym: "autosomal dominant spastic paraplegia 33" EXACT [] synonym: "SPASTIC TETRAPARESIS" NARROW [] synonym: "SPG33" EXACT [] synonym: "ZFYVE27-RELATED CONDITION" EXACT [] xref: MESH:C565214 xref: MIM:610244 xref: MONDO:0012448 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110785 name: hereditary spastic paraplegia 34 alt_id: MIM:300750 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. (DO)" [PMID:12210342 "DO"] synonym: "SPG34" EXACT [] synonym: "X-linked spastic paraplegia 34" EXACT [] synonym: "X-linked spastic paraplegia type 34" EXACT [] xref: MESH:C567465 xref: ORDO:171607 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110786 name: hereditary spastic paraplegia 35 alt_id: MIM:612319 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. (DO)" [PMID:19068277 "DO"] synonym: "autosomal recessive spastic paraplegia 35" EXACT [] synonym: "autosomal recessive spastic paraplegia 35, with or without neurodegeneration" EXACT [] synonym: "autosomal recessive spastic paraplegia type 35" EXACT [] synonym: "dysmyelinating leukodystrophy and spastic paraparesis" EXACT [] synonym: "dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia" EXACT [] synonym: "FA2H-RELATED CONDITION" EXACT [] synonym: "FAHN" EXACT [] synonym: "Fatty Acid Hydroxylase-Associated Neurodegeneration" EXACT [] synonym: "spastic paraplegia 35" EXACT [] synonym: "spastic paraplegia type 35" EXACT [] synonym: "SPG35" EXACT [] xref: MESH:C567311 xref: MESH:C580102 xref: NCI:C188989 xref: ORDO:171629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110787 name: hereditary spastic paraplegia 36 alt_id: MIM:613096 alt_id: RDO:0012081 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. (DO)" [PMID:19357379 "DO"] synonym: "autosomal dominant spastic paraplegia 36" EXACT [] synonym: "autosomal dominant spastic paraplegia type 36" EXACT [] synonym: "Spg36" EXACT [] xref: MESH:C567930 xref: ORDO:320365 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110788 name: hereditary spastic paraplegia 37 alt_id: MIM:611945 alt_id: RDO:0012082 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. (DO)" [PMID:17605047 "DO"] synonym: "autosomal dominant spastic paraplegia 37" EXACT [] synonym: "autosomal dominant spastic paraplegia type 37" EXACT [] synonym: "SPG37" EXACT [] xref: MESH:C567931 xref: ORDO:171612 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110789 name: hereditary spastic paraplegia 38 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. (DO)" [PMID:18401025 "DO"] synonym: "autosomal dominant spastic paraplegia 38" EXACT [] synonym: "autosomal dominant spastic paraplegia type 38" EXACT [] synonym: "SPG38" EXACT [] xref: MESH:C567349 xref: MIM:612335 xref: MONDO:0012867 xref: ORDO:171617 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110790 name: hereditary spastic paraplegia 39 alt_id: MIM:612020 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. (DO)" [PMID:18313024 "DO"] synonym: "autosomal recessive spastic paraplegia 39" EXACT [] synonym: "autosomal recessive spastic paraplegia type 39" EXACT [] synonym: "NTEMND" EXACT [] synonym: "NTE-related motor neuron disorder" EXACT [] synonym: "spastic paraplegia 39" EXACT [] synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [] synonym: "spastic paraplegia due to NTE mutation" EXACT [] synonym: "SPG39" EXACT [] xref: GARD:4924 xref: MESH:C567433 xref: ORDO:139480 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110791 name: hereditary spastic paraplegia 3A alt_id: MIM:182600 def: "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. (DO)" [PMID:11685207 "DO"] synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [] synonym: "autosomal dominant spastic paraplegia 3" EXACT [] synonym: "autosomal dominant spastic paraplegia type 3" EXACT [] synonym: "FSP1" EXACT [] synonym: "spastic paraplegia 3" EXACT [] synonym: "spastic paraplegia 3A" EXACT [] synonym: "spastic paraplegia type 3A" EXACT [] synonym: "SPG3" EXACT [] synonym: "SPG3A" EXACT [] synonym: "Strumpell disease" EXACT [] xref: GARD:5041 xref: MESH:C536864 xref: NCI:C142893 xref: ORDO:100984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110792 name: hereditary spastic paraplegia 4 def: "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)" [PMID:9302257 "DO"] synonym: "autosomal dominant spastic paraplegia 4" EXACT [] synonym: "autosomal dominant spastic paraplegia type 4" EXACT [] synonym: "familial spastic paraplegia autosomal dominant 2" EXACT [] synonym: "FSP2" EXACT [] synonym: "spastic paraplegia 4" EXACT [] synonym: "spastic paraplegia 4, modifier of" RELATED [] synonym: "spastic paraplegia type 4" EXACT [] synonym: "SPAST-related condition" BROAD [] synonym: "SPG4" EXACT [] xref: MESH:C536865 xref: MESH:C580456 xref: MIM:182601 xref: MONDO:0008438 xref: NCI:C129981 xref: ORDO:100985 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110793 name: hereditary spastic paraplegia 41 alt_id: RDO:0009824 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. (DO)" [PMID:18364116 "DO"] synonym: "autosomal dominant spastic paraplegia 41" EXACT [] synonym: "autosomal dominant spastic paraplegia type 41" EXACT [] synonym: "SPG41" EXACT [] xref: MIM:613364 xref: ORDO:320355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110794 name: hereditary spastic paraplegia 42 alt_id: MIM:612539 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. (DO)" [PMID:19061983 "DO"] synonym: "autosomal dominant spastic paraplegia 42" EXACT [] synonym: "autosomal dominant spastic paraplegia type 42" EXACT [] synonym: "SLC33A1-RELATED CONDITION" BROAD [] synonym: "SPG42" EXACT [] xref: MESH:C567262 xref: ORDO:171863 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110795 name: hereditary spastic paraplegia 43 alt_id: RDO:9001077 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. (DO)" [PMID:23857908 "DO"] synonym: "autosomal recessive spastic paraplegia 43" EXACT [] synonym: "autosomal recessive spastic paraplegia type 43" EXACT [] synonym: "C19ORF12-RELATED CONDITION" BROAD [] synonym: "SPG43" EXACT [] xref: MIM:615043 xref: ORDO:320370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110796 name: hereditary spastic paraplegia 44 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)" [PMID:19056803 "DO"] synonym: "autosomal recessive spastic paraplegia 44" EXACT [] synonym: "spastic paraplegia 44" EXACT [] synonym: "SPG44" EXACT [] xref: MESH:C567707 xref: MIM:613206 xref: MONDO:0013179 xref: ORDO:320401 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110797 name: hereditary spastic paraplegia 45 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. (DO)" [PMID:24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 45" EXACT [] synonym: "autosomal recessive spastic paraplegia type 45" EXACT [] synonym: "autosomal recessive spastic paraplegia type 65" EXACT [] synonym: "SPG45" EXACT [] synonym: "SPG65" EXACT [] xref: MIM:613162 xref: MONDO:0013165 xref: ORDO:320396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110798 name: hereditary spastic paraplegia 46 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)" [PMID:23332916 "DO"] synonym: "autosomal recessive spastic paraplegia 46" EXACT [] synonym: "autosomal recessive spastic paraplegia type 46" EXACT [] synonym: "GBA2-RELATED CONDITION" EXACT [] synonym: "SPG46" EXACT [] xref: MIM:614409 xref: ORDO:320391 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110799 name: hereditary spastic paraplegia 47 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (DO)" [PMID:21620353 "DO", PMID:22290197 "DO"] synonym: "AP4-RELATED INTELLECTUAL DISABILITY AND SPASTIC PARAPLEGIA" EXACT [] synonym: "autosomal recessive spastic paraplegia 47" EXACT [] synonym: "CPSQ5" EXACT [] synonym: "spastic quadriplegic cerebral palsy 5" EXACT [] synonym: "SPG47" EXACT [] xref: MIM:614066 xref: MONDO:0013551 xref: ORDO:280763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110800 name: hereditary spastic paraplegia 48 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. (DO)" [PMID:20613862 "DO"] synonym: "autosomal recessive spastic paraplegia 48" EXACT [] synonym: "autosomal recessive spastic paraplegia type 48" EXACT [] synonym: "spastic paraplegia 48" EXACT [] synonym: "SPG48" EXACT [] xref: MIM:613647 xref: ORDO:306511 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110801 name: hereditary spastic paraplegia 49 alt_id: OMIA:001975 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. (DO)" [PMID:23176824 "DO"] synonym: "autosomal recessive spastic paraplegia 49" EXACT [] synonym: "autosomal recessive spastic paraplegia type 49" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type IX, with developmental delay" EXACT [] synonym: "HSAN9" EXACT [] synonym: "INHERITED SPASTIC PARESIS" EXACT [] synonym: "SPG49" EXACT [] synonym: "TECPR2-RELATED CONDITION" EXACT [] xref: MIM:615031 xref: ORDO:320385 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110802 name: hereditary spastic paraplegia 50 alt_id: MIM:612936 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK535153/ "DO", PMID:19559397 "DO"] synonym: "adaptor protein complex 4 deficiency" EXACT [] synonym: "AP-4-associated hereditary spastic paraplegia" EXACT [] synonym: "AP-4 deficiency syndrome" EXACT [] synonym: "autosomal recessive spastic paraplegia 50" EXACT [] synonym: "SPG50" EXACT [] xref: MESH:C567858 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110803 name: hereditary spastic paraplegia 51 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (DO)" [PMID:20972249 "DO", PMID:21620353 "DO"] synonym: "AP4E1-RELATED CONDITION" BROAD [] synonym: "autosomal dominant spastic paraplegia 51" EXACT [] synonym: "CPSQ4" EXACT [] synonym: "spastic quadriplegic cerebral palsy 4" EXACT [] synonym: "SPG51" EXACT [] xref: GARD:10999 xref: MIM:613744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110804 name: hereditary spastic paraplegia 52 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. (DO)" [PMID:21620353 "DO"] synonym: "autosomal recessive spastic paraplegia 52" EXACT [] synonym: "Cerebral Palsy, Spastic Quadriplegic, 6" EXACT [] synonym: "CPSQ6" EXACT [] synonym: "SPG52" EXACT [] xref: MIM:614067 xref: MONDO:0013552 xref: NCI:C212890 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110805 name: hereditary spastic paraplegia 53 alt_id: RDO:9001082 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. (DO)" [PMID:22717650 "DO"] synonym: "autosomal recessive spastic paraplegia 53" EXACT [] synonym: "autosomal recessive spastic paraplegia type 53" EXACT [] synonym: "SPG53" EXACT [] xref: MIM:614898 xref: ORDO:319199 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110806 name: hereditary spastic paraplegia 54 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. (DO)" [PMID:23176823 "DO"] synonym: "autosomal recessive spastic paraplegia 54" EXACT [] synonym: "autosomal recessive spastic paraplegia type 54" EXACT [] synonym: "SPG54" EXACT [] xref: MIM:615033 xref: MONDO:0014018 xref: ORDO:320380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110807 name: hereditary spastic paraplegia 55 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. (DO)" [PMID:23188110 "DO"] synonym: "autosomal recessive spastic paraplegia 55" EXACT [] synonym: "autosomal recessive spastic paraplegia type 55" EXACT [] synonym: "SPG55" EXACT [] xref: MIM:615035 xref: ORDO:320375 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110808 name: hereditary spastic paraplegia 56 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. (DO)" [PMID:23176821 "DO"] synonym: "autosomal recessive spastic paraplegia 56" EXACT [] synonym: "autosomal recessive spastic paraplegia-56 with or without pseudoxanthoma elasticum" EXACT [] synonym: "autosomal recessive spastic paraplegia type 56" EXACT [] synonym: "CYP2U1-RELATED CONDITION" EXACT [] synonym: "SPG56" EXACT [] xref: MIM:615030 xref: ORDO:320411 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110809 name: hereditary spastic paraplegia 57 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. (DO)" [PMID:23479643 "DO"] synonym: "autosomal recessive spastic paraplegia 57" EXACT [] synonym: "autosomal recessive spastic paraplegia type 57" EXACT [] synonym: "SPG57" EXACT [] xref: EFO:0009017 xref: MIM:615658 xref: ORDO:431329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110810 name: hereditary spastic paraplegia 5A def: "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)" [PMID:18252231 "DO"] synonym: "autosomal recessive spastic paraplegia 5A" EXACT [] synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [] synonym: "CYP7B1-related condition" BROAD [] synonym: "SPG5A" EXACT [] xref: GARD:4926 xref: MESH:C536871 xref: MESH:C564811 xref: MIM:270800 xref: MONDO:0010047 xref: ORDO:100986 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110811 name: hereditary spastic paraplegia 6 alt_id: MIM:600363 def: "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)" [PMID:14508710 "DO"] synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [] synonym: "autosomal dominant spastic paraplegia 6" EXACT [] synonym: "autosomal dominant spastic paraplegia type 6" EXACT [] synonym: "familial spastic paraplegia, autosomal dominant 3" EXACT [] synonym: "FSP3" EXACT [] synonym: "NIPA1-RELATED CONDITION" EXACT [] synonym: "spastic paraplegia 6" EXACT [] synonym: "SPG6" EXACT [] xref: ICD10CM:G11.4 xref: MESH:C536866 xref: ORDO:100988 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110812 name: hereditary spastic paraplegia 61 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. (DO)" [PMID:24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 61" EXACT [] synonym: "autosomal recessive spastic paraplegia type 61" EXACT [] synonym: "spastic paraplegia-61" EXACT [] synonym: "SPG61" EXACT [] xref: MIM:615685 xref: ORDO:401780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110813 name: hereditary spastic paraplegia 62 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. (DO)" [PMID:24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 62" EXACT [] synonym: "autosomal recessive spastic paraplegia type 62" EXACT [] synonym: "spastic paraplegia-62" EXACT [] synonym: "SPG62" EXACT [] xref: MIM:615681 xref: MONDO:0014302 xref: ORDO:401785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110814 name: hereditary spastic paraplegia 63 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. (DO)" [PMID:24482476 "DO"] synonym: "AMPD2-RELATED CONDITION" BROAD [] synonym: "autosomal recessive spastic paraplegia 63" EXACT [] synonym: "spastic paraplegia 63" EXACT [] synonym: "SPG63" EXACT [] xref: MIM:615686 xref: ORDO:401805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110815 name: hereditary spastic paraplegia 64 alt_id: RDO:9000756 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. (DO)" [PMID:24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 64" EXACT [] synonym: "autosomal recessive spastic paraplegia type 64" EXACT [] synonym: "SPG64" EXACT [] xref: MIM:615683 xref: ORDO:401810 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110816 name: hereditary spastic paraplegia 7 def: "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)" [PMID:9635427 "DO"] synonym: "autosomal recessive spastic paraplegia 7" EXACT [] synonym: "hereditary spastic paraplegia, paraplegin type" EXACT [] synonym: "spastic paraplegia 7" EXACT [] synonym: "spastic paraplegia type 7" EXACT [] synonym: "SPG7" EXACT [] synonym: "SPG7-related condition" BROAD [] xref: GARD:4927 xref: MESH:C564599 xref: MESH:C580457 xref: MIM:607259 xref: MONDO:0011803 xref: NCI:C181657 xref: ORDO:99013 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110817 name: hereditary spastic paraplegia 72A def: "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. (DO)" [PMID:24388663 "DO"] synonym: "autosomal dominant spastic paraplegia type 72" EXACT [] synonym: "hereditary spastic paraplegia 72" EXACT [] synonym: "spastic paraplegia 72, autosomal dominant" EXACT [] synonym: "SPG72" EXACT [] xref: MIM:615625 xref: ORDO:401849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110818 name: hereditary spastic paraplegia 73 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. (DO)" [PMID:25751282 "DO"] synonym: "autosomal dominant spastic paraplegia 73" EXACT [] synonym: "autosomal dominant spastic paraplegia type 73" EXACT [] synonym: "SPG73" EXACT [] xref: MIM:616282 xref: MONDO:0014568 xref: ORDO:444099 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110819 name: hereditary spastic paraplegia 74 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. (DO)" [PMID:25609768 "DO"] synonym: "autosomal recessive spastic paraplegia 74" EXACT [] synonym: "SPG74" EXACT [] xref: MIM:616451 xref: ORDO:468661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110820 name: hereditary spastic paraplegia 75 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. (DO)" [PMID:24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 75" EXACT [] synonym: "autosomal recessive spastic paraplegia type 75" EXACT [] synonym: "SPG75" EXACT [] xref: EFO:0009018 xref: MIM:616680 xref: MONDO:0014729 xref: ORDO:459056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1561 ! cognitive disorder is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110821 name: hereditary spastic paraplegia 76 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. (DO)" [PMID:27153400 "DO"] synonym: "autosomal recessive hereditary spastic paraplegia-76" EXACT [] synonym: "autosomal recessive spastic paraplegia 76" EXACT [] synonym: "autosomal recessive spastic paraplegia type 76" EXACT [] synonym: "CAPN1-related condition" BROAD [] synonym: "spastic paraplegia-76" EXACT [] synonym: "SPG76" EXACT [] synonym: "spinocerebellar ataxia, CAPN1-related" EXACT [] xref: EFO:0009019 xref: MIM:616907 xref: MONDO:0014827 xref: NCI:C157150 xref: OMIA:001820 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110822 name: hereditary spastic paraplegia 77 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. (DO)" [PMID:26553276 "DO"] synonym: "autosomal recessive spastic paraplegia 77" EXACT [] synonym: "SPG77" EXACT [] xref: MIM:617046 xref: ORDO:466722 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110823 name: hereditary spastic paraplegia 8 alt_id: MIM:603563 alt_id: RDO:0002580 alt_id: RDO:0015929 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)" [PMID:17160902 "DO"] synonym: "autosomal dominant spastic paraplegia 8" EXACT [] synonym: "autosomal dominant spastic paraplegia type 8" EXACT [] synonym: "Spastic Paraplegia 8" EXACT [] synonym: "spastic paraplegia type 8" EXACT [] synonym: "SPG8" EXACT [] synonym: "Spg 8" EXACT [] synonym: "WASHC5-RELATED CONDITION" BROAD [] xref: GARD:9591 xref: MESH:C580458 xref: ORDO:100989 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110824 name: hereditary spastic paraplegia 9A def: "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [PMID:26026163 "DO"] synonym: "AD-SPG9A" EXACT [] synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [] synonym: "autosomal dominant spastic paraparesis" EXACT [] synonym: "autosomal dominant spastic paraplegia 9A" EXACT [] synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" EXACT [] synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" EXACT [] synonym: "cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [] synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" EXACT [] synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [] synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" EXACT [] synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" EXACT [] synonym: "SPG9A" EXACT [] xref: MESH:C536868 xref: MIM:601162 xref: MONDO:0011006 xref: ORDO:100990 xref: ORDO:447753 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0110825 name: hereditary spastic paraplegia 9B alt_id: RDO:9001562 def: "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [PMID:26026163 "DO"] synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [] synonym: "autosomal recessive spastic paraplegia 9B" EXACT [] synonym: "SPG9B" EXACT [] xref: MIM:616586 xref: ORDO:447760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110826 name: Usher syndrome type 1 def: "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1265/ "DO", PMID:2909824 "DO"] synonym: "US1" EXACT [] synonym: "USH1" EXACT [] synonym: "Usher Syndrome, Type I" EXACT [] xref: GARD:5435 xref: MONDO:0010168 xref: NCI:C126327 xref: ORDO:231169 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110827 name: Usher syndrome type 2 def: "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1341/ "DO", PMID:2909824 "DO", PMID:9624053 "DO"] synonym: "USH2" EXACT [] synonym: "Usher Syndrome, Type II" EXACT [] xref: NCI:C126328 xref: ORDO:231178 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110828 name: Usher syndrome type 3 def: "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", PMID:2909824 "DO", PMID:8864816 "DO"] synonym: "USH3" EXACT [] synonym: "Usher Syndrome, Type III" EXACT [] xref: GARD:5442 is_a: DOID:0050439 ! Usher syndrome created_by: rgd creation_date: 2015-10-06T00:00:00Z [Term] id: DOID:0110829 name: retinitis pigmentosa-deafness syndrome def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. (DO)" [PMID:10090882 "DO"] synonym: "CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS" RELATED [] synonym: "retinitis pigmentosa 21" RELATED [] synonym: "retinitis pigmentosa 8" RELATED [] synonym: "RP21" RELATED [] synonym: "RP8" RELATED [] xref: GARD:4684 xref: MIM:500004 xref: NCI:C126329 xref: ORDO:231183 is_a: DOID:0050439 ! Usher syndrome is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:0110830 name: Usher syndrome type 1C alt_id: MIM:276904 def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. (DO)" [PMID:10973247 "DO"] synonym: "USH1C" EXACT [] synonym: "USH1C-RELATED CONDITION" BROAD [] synonym: "Usher syndrome, Acadian variety" EXACT [] synonym: "Usher syndrome type I Acadian variety" EXACT [] synonym: "Usher syndrome type IC" EXACT [] xref: MESH:C536486 xref: MESH:C564753 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110831 name: Usher syndrome type 1D def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)" [PMID:11138009 "DO"] synonym: "USH1D" EXACT [] synonym: "Usher syndrome, type ID" EXACT [] xref: MESH:C536487 xref: MESH:C563400 xref: MIM:601067 xref: MONDO:0010984 is_a: DOID:0080578 ! digenic disease is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110832 name: Usher syndrome type 1F alt_id: MIM:602083 alt_id: RDO:0011990 def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. (DO)" [PMID:11398101 "DO"] synonym: "USH1F" EXACT [] synonym: "Usher syndrome type IF" EXACT [] xref: MESH:C536489 xref: MESH:C566586 xref: RDO:0002091 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110833 name: Usher syndrome type 1E alt_id: MIM:602097 alt_id: RDO:0011989 def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. (DO)" [PMID:9002666 "DO"] synonym: "USH1E" EXACT [] synonym: "USHER SYNDROME, TYPE IE" EXACT [] xref: MESH:C536488 xref: MESH:C566577 xref: RDO:0002090 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110834 name: Usher syndrome type 1G def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. (DO)" [PMID:12588794 "DO"] synonym: "USH1G" EXACT [] synonym: "USH1G-related condition" BROAD [] synonym: "USH1G-related disorder" BROAD [] synonym: "USH1G-related disorders" BROAD [] synonym: "Usher syndrome type IG" EXACT [] xref: MESH:C564643 xref: MIM:606943 xref: MONDO:0011748 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110835 name: Usher syndrome type 1H def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. (DO)" [PMID:18505454 "DO"] synonym: "USH1H" EXACT [] synonym: "Usher syndrome type IH" EXACT [] xref: MESH:C567227 xref: MIM:612632 xref: MONDO:0012968 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110837 name: Usher syndrome type 1K alt_id: RDO:9004229 def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. (DO)" [PMID:22718019 "DO"] synonym: "USH1K" EXACT [] synonym: "Usher syndrome type IK" EXACT [] xref: MIM:614990 is_a: DOID:0110826 ! Usher syndrome type 1 created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110838 name: Usher syndrome type 2A alt_id: MIM:276901 def: "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)" [PMID:9624053 "DO"] synonym: "USH2A" EXACT [] synonym: "USH2A-RELATED CONDITION" BROAD [] synonym: "USH2A-related disorder" BROAD [] synonym: "Usher syndrome, type IIA" EXACT [] xref: GARD:5440 xref: MESH:C536490 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110839 name: Usher syndrome type 2C alt_id: MIM:605472 def: "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. (DO)" [PMID:14740321 "DO"] synonym: "ADGRV1-RELATED CONDITION" BROAD [] synonym: "ADGRV1-RELATED DISORDER" BROAD [] synonym: "USH2B" NARROW [] synonym: "USH2C" EXACT [] synonym: "Usher syndrome IIC" EXACT [] synonym: "Usher Syndrome Type 2c, GPR98/PDZD Digenic" NARROW [] synonym: "Usher Syndrome, Type IIC" EXACT [] synonym: "Usher syndrome, Type IIC, GPR98/PDZD7 digenic" NARROW [] xref: MESH:C536492 xref: NCI:C153174 is_a: DOID:0080578 ! digenic disease is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110840 name: Usher syndrome type 2D def: "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. (DO)" [PMID:17171570 "DO"] synonym: "USH2D" EXACT [] synonym: "Usher Syndrome, Type IID" EXACT [] synonym: "WHRN-RELATED CONDITION" BROAD [] xref: MIM:611383 xref: MONDO:0012662 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110841 name: Usher syndrome type 3A alt_id: RDO:0008520 def: "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. (DO)" [PMID:11524702 "DO"] synonym: "CLRN1-RELATED CONDITION" BROAD [] synonym: "USH3A" EXACT [] synonym: "Usher syndrome type IIIA" EXACT [] xref: MIM:276902 is_a: DOID:0110828 ! Usher syndrome type 3 [Term] id: DOID:0110842 name: Usher syndrome type 3B alt_id: RDO:9000848 def: "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. (DO)" [PMID:22279524 "DO"] synonym: "USH3B" EXACT [] synonym: "Usher Syndrome, Type IIIB" EXACT [] xref: MIM:614504 is_a: DOID:0110828 ! Usher syndrome type 3 [Term] id: DOID:0110843 name: xeroderma pigmentosum group A def: "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. (DO)" [PMID:2168777 "DO", PMID:2234061 "DO"] synonym: "xeroderma pigmentosum 1" EXACT [] synonym: "xeroderma pigmentosum complementation group A" EXACT [] synonym: "xeroderma pigmentosum I" EXACT [] synonym: "XP1" EXACT [] synonym: "XPA" EXACT [] synonym: "XPA-RELATED CONDITION" EXACT [] synonym: "XP group A" EXACT [] xref: MIM:278700 xref: MONDO:0010210 xref: NCI:C3965 is_a: DOID:0050427 ! xeroderma pigmentosum created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110844 name: xeroderma pigmentosum group C def: "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. (DO)" [PMID:6696469 "DO", PMID:8298653 "DO"] synonym: "Xeroderma Pigmentosum, Complementation Group C" EXACT [] synonym: "xeroderma pigmentosum III" EXACT [] synonym: "XP3" EXACT [] synonym: "XPC" EXACT [] synonym: "XPCC" EXACT [] synonym: "XPC-related condition" BROAD [] synonym: "XP group C" EXACT [] xref: MESH:C567886 xref: MIM:278720 xref: MONDO:0010211 xref: NCI:C114770 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110845 name: xeroderma pigmentosum group D def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. (DO)" [PMID:7849702 "DO"] synonym: "xeroderma pigmentosum IV" EXACT [] synonym: "xeroderma pigmentosum VIII" EXACT [] synonym: "XP4" EXACT [] synonym: "XP8" EXACT [] synonym: "XPD" EXACT [] synonym: "XPDC" EXACT [] synonym: "XP, group D" EXACT [] synonym: "XP, group H" EXACT [] synonym: "XPH" EXACT [] xref: MESH:C562591 xref: MIM:278730 xref: MONDO:0010212 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110846 name: xeroderma pigmentosum group E def: "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (DO)" [PMID:3339259 "DO", PMID:8798680 "DO"] synonym: "DDB2-related condition" BROAD [] synonym: "Xeroderma Pigmentosum, Complementation Group E" EXACT [] synonym: "Xeroderma Pigmentosum V" EXACT [] synonym: "XP5" EXACT [] synonym: "XPE" EXACT [] synonym: "XP, Group E" EXACT [] xref: MESH:C564732 xref: MIM:278740 xref: MONDO:0010213 xref: NCI:C114771 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110847 name: xeroderma pigmentosum variant type def: "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. (DO)" [PMID:10385124 "DO", PMID:1054497 "DO"] synonym: "Photosensitivity with defective DNA synthesis" EXACT [] synonym: "POLH-related condition" BROAD [] synonym: "Xeroderma pigmentosum with normal DNA repair rates" EXACT [] synonym: "XPV" EXACT [] xref: GARD:5630 xref: MESH:C536766 xref: MIM:278750 xref: MONDO:0010214 xref: NCI:C141367 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110848 name: xeroderma pigmentosum group F def: "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [PMID:23623389 "DO", PMID:8797827 "DO"] synonym: "Xeroderma Pigmentosum, Complementation Group F" EXACT [] synonym: "xeroderma pigmentosum, type F" EXACT [] synonym: "xeroderma pigmentosum, type F/Cockayne syndrome" EXACT [] synonym: "xeroderma pigmentosum VI" EXACT [] synonym: "XP6" EXACT [] synonym: "XPF" EXACT [] synonym: "XPF/CS" EXACT [] synonym: "XP, Group F" EXACT [] xref: ICD10CM:Q82.1 xref: MESH:C562592 xref: MIM:278760 xref: MONDO:0010215 xref: NCI:C3968 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110849 name: xeroderma pigmentosum group G alt_id: MIM:278780 def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)" [PMID:11841555 "DO"] synonym: "ERCC5-RELATED DISORDER" BROAD [] synonym: "xeroderma pigmentosum, complementation group G" EXACT [] synonym: "xeroderma pigmentosum VII" NARROW [] synonym: "XP7" EXACT [] synonym: "XPG" EXACT [] synonym: "XPGC" EXACT [] synonym: "XP, group G" EXACT [] xref: MESH:C562593 xref: NCI:C3969 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110850 name: xeroderma pigmentosum group B def: "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. (DO)" [PMID:16947863 "DO"] synonym: "ERCC3-RELATED CONDITION" BROAD [] synonym: "xeroderma pigmentosum, complementation group B" EXACT [] synonym: "XPB" EXACT [] synonym: "XPB/CS" NARROW [] synonym: "XPBC" EXACT [] synonym: "XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME" NARROW [] synonym: "XP, GROUP B" NARROW [] xref: MESH:C562590 xref: MIM:610651 xref: MONDO:0012531 xref: NCI:C3966 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110851 name: rhizomelic chondrodysplasia punctata type 1 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. (DO)" [PMID:15679822 "DO"] synonym: "CDPR" EXACT [] synonym: "Chondrodystrophia calcificans punctata" EXACT [] synonym: "PBD9" EXACT [] synonym: "Peroxisome Biogenesis Disorder 9" EXACT [] synonym: "PEX7-RELATED DISORDER" BROAD [] synonym: "RCDP1" EXACT [] xref: GARD:6049 xref: MESH:C531651 xref: MIM:215100 xref: MONDO:0008972 xref: ORDO:309789 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110852 name: rhizomelic chondrodysplasia punctata type 2 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. (DO)" [PMID:1405476 "DO"] synonym: "Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency" EXACT [] synonym: "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT [] synonym: "DHAPAT deficiency" EXACT [] synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [] synonym: "Glyceronephosphate acyltransferase deficiency" EXACT [] synonym: "Glyceronephosphate O-Acyltransferase Deficiency" EXACT [] synonym: "GNPAT deficiency" EXACT [] synonym: "GNPAT-RELATED CONDITION" EXACT [] synonym: "Human dihydroxyacetonephosphate acyltransferase deficiency" EXACT [] synonym: "Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" EXACT [] synonym: "RCDP2" EXACT [] xref: MESH:C537607 xref: MIM:222765 xref: MONDO:0009112 xref: ORDO:309796 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110853 name: rhizomelic chondrodysplasia punctata type 3 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. (DO)" [PMID:22871920 "DO"] synonym: "AGPS deficiency" EXACT [] synonym: "AGPS-RELATED CONDITION" EXACT [] synonym: "alkyldihydroxyacetonephosphate synthase deficiency" EXACT [] synonym: "alkylglycerone-phosphate synthase deficiency" EXACT [] synonym: "RCDP3" EXACT [] xref: MESH:C537608 xref: MIM:600121 xref: MONDO:0010823 xref: ORDO:309803 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110854 name: rhizomelic chondrodysplasia punctata type 5 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. (DO)" [PMID:26220973 "DO"] synonym: "RCDP5" EXACT [] xref: MIM:616716 xref: MONDO:0014743 xref: ORDO:468717 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110855 name: posterior polymorphous corneal dystrophy 1 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)" [PMID:26749309 "DO"] synonym: "CHED1" EXACT [] synonym: "corneal endothelial dystrophy 1" EXACT [] synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [] synonym: "hereditary polymorphous posterior corneal dystrophy" EXACT [] synonym: "Maumenee corneal dystrophy" EXACT [] synonym: "OVOL2-RELATED CONDITION" EXACT [] synonym: "PPCD1" EXACT [] xref: ICD10CM:H18.50 xref: MESH:C562745 xref: MESH:C565156 xref: MIM:122000 xref: MONDO:0007378 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110856 name: posterior polymorphous corneal dystrophy 2 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. (DO)" [PMID:11689488 "DO"] synonym: "COL8A2-RELATED CONDITION" BROAD [] synonym: "PPCD2" EXACT [] xref: MESH:C565176 xref: MIM:609140 xref: MONDO:0012199 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110857 name: posterior polymorphous corneal dystrophy 3 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. (DO)" [PMID:16252232 "DO"] synonym: "PPCD3" EXACT [] synonym: "ZEB1-RELATED CONDITION" BROAD [] xref: MESH:C563788 xref: MIM:609141 xref: MONDO:0012200 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110858 name: polycystic kidney disease 1 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. (DO)" [PMID:9650770 "DO"] synonym: "adult polycystic kidney disease type 1" EXACT [] synonym: "adult polycystic kidney disease, type I" EXACT [] synonym: "APKD1" EXACT [] synonym: "PKD1" EXACT [] synonym: "PKD1-related condition" BROAD [] synonym: "polycystic kidney disease type 1" EXACT [] synonym: "polycystic kidney type 1, autosomal dominant disease" EXACT [] synonym: "Potter type III polycystic kidney disease" EXACT [] xref: MESH:C536326 xref: MESH:C566792 xref: MIM:173900 xref: MONDO:0008263 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0110859 name: polycystic kidney disease 2 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (DO)" [PMID:7825585 "DO"] synonym: "adult polycystic kidney disease type 2" EXACT [] synonym: "adult polycystic kidney disease, type II" EXACT [] synonym: "APKD2" EXACT [] synonym: "PKD2" EXACT [] synonym: "PKD2-related condition" BROAD [] synonym: "polycystic kidney disease, type 2" EXACT [] synonym: "polycystic kidney, type 2 autosomal dominant disease" EXACT [] xref: MIM:613095 xref: MONDO:0013131 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110860 name: polycystic kidney disease 3 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. (DO)" [PMID:27259053 "DO"] synonym: "adult polycystic kidney disease, type 3" EXACT [] synonym: "adult polycystic kidney disease, type III" EXACT [] synonym: "APKD3" EXACT [] synonym: "GANAB-related condition" BROAD [] synonym: "PKD3" EXACT [] synonym: "POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE" EXACT [] synonym: "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE" NARROW [] xref: MIM:600666 xref: MONDO:0010916 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110861 name: autosomal recessive polycystic kidney disease def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)" [https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease "DO"] synonym: "AR-PKD" EXACT [] synonym: "ARPKD" EXACT [] synonym: "autosomal recessive polycystic kidney" EXACT [] synonym: "congenital hepatic fibrosis" NARROW [] synonym: "PKD1-BIALLELIC AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE" NARROW [] synonym: "Polycystic Kidney Disease, Infantile, Type I" EXACT [] xref: GARD:8378 xref: ICD10CM:Q61.1 xref: ICD9CM:753.14 xref: MESH:D017044 xref: MONDO:0009889 xref: NCI:C84579 xref: ORDO:731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080322 ! polycystic kidney disease [Term] id: DOID:0110862 name: congenital stationary night blindness autosomal dominant 1 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)" [PMID:7846071 "DO"] synonym: "CSNBAD1" EXACT [] synonym: "rhodopsin-related congenital stationary night blindness" EXACT [] xref: MESH:C566474 xref: MIM:610445 xref: MONDO:0012498 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110863 name: congenital stationary night blindness autosomal dominant 2 alt_id: MIM:163500 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. (DO)" [PMID:8075643 "DO"] synonym: "congenital stationary night blindness, Rambusch type" EXACT [] synonym: "CSNBAD2" EXACT [] synonym: "PDE6B-RELATED CONDITION" BROAD [] synonym: "PDE6B-RELATED DISORDER" BROAD [] xref: MESH:C566869 xref: MONDO:0008099 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110864 name: congenital stationary night blindness 1F def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)" [PMID:23246293 "DO"] synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1F" EXACT [] synonym: "CSNB1F" EXACT [] synonym: "LRIT3-related condition" BROAD [] xref: MIM:615058 xref: MONDO:0014026 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110865 name: congenital stationary night blindness 1B def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)" [PMID:15781871 "DO"] synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, complete, autosomal recessive" BROAD [] synonym: "congenital stationary night blindness, type 1B" EXACT [] synonym: "CSNB1B" EXACT [] synonym: "CSNB, complete, autosomal recessive" BROAD [] synonym: "GRM6-related condition" BROAD [] xref: MIM:257270 xref: MONDO:0009758 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110866 name: congenital stationary night blindness 1H def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. (DO)" [PMID:27063057 "DO"] synonym: "congenital stationary night blindness type 1H" EXACT [] synonym: "CSNB1H" EXACT [] synonym: "GNB3-related condition" BROAD [] xref: MIM:617024 xref: MONDO:0014872 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2016-08-10T00:00:00Z [Term] id: DOID:0110867 name: congenital stationary night blindness 1C def: "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)" [PMID:19878917 "DO"] synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1C" EXACT [] synonym: "CSNB1C" EXACT [] synonym: "CSNB, complete, autosomal recessive" EXACT [] synonym: "TRPM1-related condition" EXACT [] xref: MESH:C567704 xref: MIM:613216 xref: MONDO:0013183 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110868 name: congenital stationary night blindness 1D def: "A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)" [PMID:20850105 "DO"] synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1D" EXACT [] synonym: "CSNB1D" EXACT [] synonym: "CSNB, complete, autosomal recessive" BROAD [] synonym: "SLC24A1-related condition" BROAD [] xref: MIM:613830 xref: MONDO:0013450 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110869 name: congenital stationary night blindness 1E alt_id: RDO:9000618 def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)" [PMID:22325361 "DO"] synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1E" EXACT [] synonym: "CSNB1E" EXACT [] synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT [] synonym: "GPR179-RELATED CONDITION" EXACT [] xref: MIM:614565 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110870 name: congenital stationary night blindness 1A def: "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. (DO)" [PMID:9662400 "DO"] synonym: "congenital stationary night blindness 1A, X-linked" EXACT [] synonym: "congenital stationary night blindness, type 1A" EXACT [] synonym: "congenital stationary night blindness, with myopia" EXACT [] synonym: "CSNB1A" EXACT [] synonym: "CSNB, complete, X-linked" EXACT [] synonym: "myopia-night blindness" EXACT [] synonym: "NBMI" EXACT [] synonym: "NYX-related condition" BROAD [] xref: MIM:310500 xref: MONDO:0010690 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110871 name: congenital stationary night blindness 2A alt_id: RDO:0008547 def: "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. (DO)" [PMID:9662399 "DO"] synonym: "congenital stationary night blindness 2A, X-linked" EXACT [] synonym: "congenital stationary night blindness, type 2" EXACT [] synonym: "congenital stationary night blindness type 2A" EXACT [] synonym: "congenital stationary night blindness type 2A, severe" NARROW [] synonym: "CSNB2" EXACT [] synonym: "CSNB2A" EXACT [] synonym: "CSNB, incomplete, X-linked" EXACT [] xref: MIM:300071 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110872 name: holoprosencephaly 2 alt_id: MIM:157170 def: "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. (DO)" [PMID:10369266 "DO"] synonym: "HPE2" EXACT [] synonym: "SIX3-RELATED CONDITION" BROAD [] xref: MESH:C563579 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110873 name: holoprosencephaly 9 alt_id: MIM:610829 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)" [PMID:14581620 "DO"] synonym: "CEREBELLAR CYST" NARROW [] synonym: "GLI2-RELATED CONDITION" BROAD [] synonym: "GLI2-related disorder" BROAD [] synonym: "HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES" EXACT [] synonym: "HPE9" EXACT [] synonym: "Pituitary Anomalies with Holoprosencephaly-Like Features" EXACT [] xref: MESH:C563659 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0110874 name: holoprosencephaly 6 alt_id: MIM:605934 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. (DO)" [PMID:11343300 "DO"] synonym: "HPE6" EXACT [] xref: MESH:C565274 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110875 name: holoprosencephaly 3 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. (DO)" [PMID:8896572 "DO"] synonym: "HLP3" EXACT [] synonym: "HPE3" EXACT [] xref: MESH:C564181 xref: MIM:142945 xref: MONDO:0007733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110876 name: holoprosencephaly 7 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)" [PMID:11941477 "DO"] synonym: "HPE7" EXACT [] xref: MESH:C563660 xref: MIM:610828 xref: MONDO:0012562 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110877 name: holoprosencephaly 11 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. (DO)" [PMID:21802063 "DO"] synonym: "CDON-RELATED CONDITION" EXACT [] synonym: "HPE11" EXACT [] xref: MIM:614226 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110878 name: holoprosencephaly 5 alt_id: MIM:609637 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)" [PMID:9771712 "DO"] synonym: "HPE5" EXACT [] synonym: "ZIC2-RELATED CONDITION" EXACT [] xref: MESH:C566464 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110879 name: holoprosencephaly 8 alt_id: MIM:609408 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. (DO)" [PMID:15820313 "DO"] synonym: "HPE8" EXACT [] xref: MESH:C563723 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110880 name: holoprosencephaly 4 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)" [PMID:10835638 "DO", PMID:16323008 "DO"] synonym: "HPE4" EXACT [] synonym: "TGIF1-related condition" BROAD [] xref: MESH:C564180 xref: MIM:142946 xref: MONDO:0007734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110881 name: holoprosencephaly 1 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. (DO)" [PMID:7485157 "DO"] synonym: "cyclopia" EXACT [] synonym: "HPE1" EXACT [] xref: MESH:C562573 xref: MIM:236100 xref: MONDO:0009349 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110882 name: inflammatory bowel disease 7 alt_id: MIM:605225 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. (DO)" [PMID:19122664 "DO"] synonym: "IBD7" EXACT [] xref: MESH:C565353 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110883 name: inflammatory bowel disease 17 alt_id: MIM:612261 def: "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. (DO)" [PMID:17068223 "DO"] synonym: "IBD17" EXACT [] synonym: "IL23R-RELATED CONDITION" BROAD [] synonym: "inflammatory bowel disease 17, protection against" RELATED [] xref: MESH:C567378 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110884 name: inflammatory bowel disease 23 alt_id: MIM:612381 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. (DO)" [PMID:15937090 "DO", PMID:18587394 "DO"] synonym: "IBD23" EXACT [] xref: MESH:C567326 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110885 name: inflammatory bowel disease 10 alt_id: MIM:611081 def: "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. (DO)" [PMID:18852889 "DO"] synonym: "ATG16L1-RELATED CONDITION" EXACT [] synonym: "IBD10" EXACT [] synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [] synonym: "inflammatory bowel disease 10, susceptibility to" RELATED [] xref: MESH:C567021 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110886 name: inflammatory bowel disease 9 alt_id: MIM:608448 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. (DO)" [PMID:12354785 "DO"] synonym: "IBD9" EXACT [] xref: MESH:C563926 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110887 name: inflammatory bowel disease 12 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. (DO)" [PMID:17804789 "DO"] synonym: "IBD12" EXACT [] xref: MESH:C567388 xref: MIM:612241 xref: MONDO:0012829 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110888 name: inflammatory bowel disease 18 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. (DO)" [PMID:17447842 "DO"] synonym: "IBD18" EXACT [] xref: MESH:C567377 xref: MIM:612262 xref: MONDO:0012841 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110889 name: inflammatory bowel disease 5 alt_id: MIM:606348 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. (DO)" [PMID:11586304 "DO"] synonym: "IBD5" EXACT [] xref: MESH:C565234 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110890 name: inflammatory bowel disease 19 alt_id: MIM:612278 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. (DO)" [PMID:17554261 "DO"] synonym: "IBD19" EXACT [] synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [] synonym: "IRGM-RELATED CONDITION" BROAD [] xref: MESH:C567372 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110891 name: inflammatory bowel disease 3 alt_id: MIM:604519 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. (DO)" [PMID:10577918 "DO"] synonym: "IBD3" EXACT [] xref: MESH:C565764 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110892 name: inflammatory bowel disease 1 def: "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. (DO)" [PMID:11385576 "DO"] synonym: "IBD1" EXACT [] xref: MONDO:0009960 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110893 name: inflammatory bowel disease 13 alt_id: MIM:612244 def: "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. (DO)" [PMID:14610718 "DO"] synonym: "ABCB1-RELATED CONDITION" EXACT [] synonym: "IBD13" EXACT [] xref: MESH:C567384 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110894 name: inflammatory bowel disease 11 alt_id: MIM:191390 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. (DO)" [PMID:8841195 "DO"] synonym: "IBD11" EXACT [] xref: MESH:C567154 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0110895 name: inflammatory bowel disease 14 alt_id: MIM:612245 def: "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. (DO)" [PMID:17881657 "DO"] synonym: "IBD14" EXACT [] synonym: "INFLAMMATORY BOWEL DISEASE 14, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C567383 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110896 name: inflammatory bowel disease 16 alt_id: MIM:612259 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. (DO)" [PMID:18587394 "DO"] synonym: "IBD16" EXACT [] xref: MESH:C567380 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110897 name: inflammatory bowel disease 15 alt_id: MIM:612255 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. (DO)" [PMID:18438406 "DO"] synonym: "IBD15" EXACT [] xref: MESH:C567381 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110898 name: inflammatory bowel disease 20 alt_id: MIM:612288 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. (DO)" [PMID:10053016 "DO"] synonym: "IBD20" EXACT [] xref: MESH:C567361 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110899 name: inflammatory bowel disease 28 alt_id: MIM:613148 def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)" [PMID:19890111 "DO", PMID:22476154 "DO"] synonym: "autosomal recessive inflammatory bowel disease 28" EXACT [] synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [] synonym: "IBD28" EXACT [] xref: MESH:C567728 xref: NCI:C164676 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110900 name: inflammatory bowel disease 2 alt_id: MIM:601458 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. (DO)" [PMID:8841195 "DO"] synonym: "IBD2" EXACT [] xref: MESH:C563310 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110901 name: inflammatory bowel disease 26 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. (DO)" [PMID:19122664 "DO"] synonym: "IBD26" EXACT [] xref: MESH:C567217 xref: MIM:612639 xref: MONDO:0012973 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110902 name: inflammatory bowel disease 27 alt_id: MIM:612796 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. (DO)" [PMID:18246054 "DO"] synonym: "IBD27" EXACT [] xref: MESH:C567559 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110903 name: inflammatory bowel disease 4 alt_id: MIM:606675 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. (DO)" [PMID:10747815 "DO"] synonym: "IBD4" EXACT [] xref: MESH:C564680 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110904 name: inflammatory bowel disease 8 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. (DO)" [PMID:11752413 "DO"] synonym: "IBD8" EXACT [] xref: MESH:C564682 xref: MIM:606668 xref: MONDO:0011699 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110905 name: inflammatory bowel disease 22 alt_id: MIM:612380 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. (DO)" [PMID:18438405 "DO"] synonym: "IBD22" EXACT [] xref: MESH:C567327 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110906 name: inflammatory bowel disease 21 alt_id: MIM:612354 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. (DO)" [PMID:17554261 "DO"] synonym: "IBD21" EXACT [] xref: MESH:C567338 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110907 name: inflammatory bowel disease 6 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. (DO)" [PMID:10777714 "DO"] synonym: "IBD6" EXACT [] xref: MESH:C564681 xref: MIM:606674 xref: MONDO:0011700 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110908 name: inflammatory bowel disease 24 alt_id: MIM:612566 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. (DO)" [PMID:18758464 "DO"] synonym: "IBD24" EXACT [] xref: MESH:C567252 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110909 name: inflammatory bowel disease 25 alt_id: MIM:612567 def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. (DO)" [PMID:19890111 "DO"] synonym: "autosomal recessive inflammatory bowel disease 25" EXACT [] synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [] synonym: "IBD25" EXACT [] xref: MESH:C567251 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110910 name: leukocyte adhesion deficiency 1 alt_id: MIM:116920 alt_id: OMIA:000595 def: "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. (DO)" [PMID:6361068 "DO"] synonym: "LAD" EXACT [] synonym: "LAD1" EXACT [] synonym: "leukocyte adhesion deficiency type 1" EXACT [] synonym: "leukocyte adhesion deficiency, type I" EXACT [] synonym: "LFA1 immunodeficiency" EXACT [] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [] xref: MESH:C535887 xref: ORDO:99842 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0110912 name: leukocyte adhesion deficiency 3 alt_id: MIM:612840 alt_id: OMIA:001525 def: "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO", ORDO:99844 "DO", PMID:19234463 "DO"] synonym: "IADD" EXACT [] synonym: "integrin activation deficiency disease" EXACT [] synonym: "LAD1V" EXACT [] synonym: "LAD1 variant" EXACT [] synonym: "LAD3" EXACT [] synonym: "leukocyte adhesion deficiency 1 variant" EXACT [] synonym: "leukocyte adhesion deficiency, type III" EXACT [] xref: MESH:C567555 xref: ORDO:99844 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0110913 name: adult hypophosphatasia def: "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. (DO)" [PMID:1409720 "DO"] synonym: "mild hypophosphatasia" EXACT [] xref: EFO:0021431 xref: MESH:C562647 xref: MIM:146300 xref: ORDO:247676 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110914 name: infantile hypophosphatasia def: "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. (DO)" [PMID:1689104 "DO"] synonym: "HOPS" EXACT [] synonym: "HPPI" EXACT [] synonym: "phosphoethanolaminuria" EXACT [] xref: EFO:0021797 xref: MESH:C562646 xref: MIM:241500 xref: ORDO:247651 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110915 name: childhood hypophosphatasia def: "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. (DO)" [PMID:1409720 "DO"] synonym: "childhood-onset hypophosphatasia" NARROW [] synonym: "hypophospatasia, childhood" EXACT [] xref: EFO:0021432 xref: GARD:8735 xref: MESH:C562440 xref: MIM:241510 xref: ORDO:247667 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110916 name: hereditary spherocytosis type 1 alt_id: MIM:182900 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. (DO)" [PMID:2675425 "DO"] synonym: "ANK1-RELATED CONDITION" EXACT [] synonym: "hereditary spherocytosis 1" EXACT [] synonym: "HS1" EXACT [] synonym: "SPH" EXACT [] synonym: "SPH1" EXACT [] synonym: "spherocytosis type 1, autosomal recessive" EXACT [] xref: MESH:C567159 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110917 name: hereditary spherocytosis type 2 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. (DO)" [PMID:8102379 "DO"] synonym: "hereditary spherocytosis 2" RELATED [] synonym: "HS2" EXACT [] synonym: "Spectrin durham" RELATED [] synonym: "Spectrin kissimmee" RELATED [] synonym: "Spectrin s-ta barbara" RELATED [] synonym: "SPH2" EXACT [] synonym: "Spherocytosis, Type 2" EXACT [] synonym: "SPTB-RELATED CONDITION" BROAD [] xref: MIM:616649 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110918 name: hereditary spherocytosis type 3 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. (DO)" [PMID:8941647 "DO"] synonym: "hereditary spherocytosis 3" EXACT [] synonym: "HS3" EXACT [] synonym: "SPH3" EXACT [] synonym: "spherocytosis type 3" EXACT [] synonym: "spherocytosis type 3, autosomal recessive" EXACT [] xref: MESH:C567489 xref: MIM:270970 xref: MONDO:0010053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110919 name: hereditary spherocytosis type 4 alt_id: MIM:612653 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. (DO)" [PMID:7530501 "DO"] synonym: "hereditary spherocytosis 4" EXACT [] synonym: "HS4" EXACT [] synonym: "SPH4" EXACT [] synonym: "spherocytosis type 4" EXACT [] xref: MESH:C567208 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110920 name: hereditary spherocytosis type 5 alt_id: MIM:612690 def: "A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. (DO)" [PMID:1558976 "DO"] synonym: "EPB42-RELATED CONDITION" EXACT [] synonym: "hereditary spherocytosis 5" EXACT [] synonym: "HS5" EXACT [] synonym: "SPH5" EXACT [] synonym: "spherocytosis type 5" EXACT [] xref: MESH:C567202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110921 name: familial hemophagocytic lymphohistiocytosis 1 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. (DO)" [PMID:9915955 "DO"] synonym: "FHL1" EXACT [] synonym: "HLH1" EXACT [] synonym: "HPLH1" EXACT [] xref: MIM:267700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110922 name: familial hemophagocytic lymphohistiocytosis 2 alt_id: MIM:603553 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. (DO)" [PMID:10583959 "DO"] synonym: "familial hemophagocytic lymphohistiocytosis 2, susceptibility to" RELATED [] synonym: "FHL2" EXACT [] synonym: "HLH2" EXACT [] synonym: "HPLH2" EXACT [] xref: GARD:9922 xref: MESH:C537250 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110923 name: familial hemophagocytic lymphohistiocytosis 3 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. (DO)" [PMID:14622600 "DO"] synonym: "FHL3" EXACT [] synonym: "HLH3" EXACT [] synonym: "HPLH3" EXACT [] synonym: "UNC13D-RELATED CONDITION" EXACT [] xref: GARD:9928 xref: MESH:C537251 xref: MIM:608898 xref: MONDO:0012146 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110924 name: familial hemophagocytic lymphohistiocytosis 4 alt_id: MIM:603552 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)" [PMID:15703195 "DO"] synonym: "FHL4" EXACT [] synonym: "HLH4" EXACT [] synonym: "HPLH4" EXACT [] synonym: "STX11-RELATED CONDITION" EXACT [] xref: GARD:9929 xref: MESH:C537252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110925 name: familial hemophagocytic lymphohistiocytosis 5 alt_id: MIM:613101 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. (DO)" [PMID:19804848 "DO"] synonym: "familial hemophagocytic lymphohistiocytosis 5 with or without microvillus inclusion disease" EXACT [] synonym: "FHL5" EXACT [] synonym: "HLH5" EXACT [] synonym: "HPLH5" EXACT [] synonym: "STXBP2-RELATED CONDITION" EXACT [] xref: MESH:C567752 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110926 name: congenital myopathy 4B def: "A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21. (DO)" [PMID:10619715 "DO", PMID:24095155 "DO", PMID:7704029 "DO"] synonym: "autosomal recessive congenital myopathy 4B" EXACT [] synonym: "CAPM1" NARROW [] synonym: "CAP myopathy 1" NARROW [] synonym: "cap myopathy, TPM3-related" EXACT [] synonym: "CMYO4B" EXACT [] synonym: "CMYP4B" EXACT [] synonym: "NEM1" EXACT [] synonym: "nemaline myopathy 1" EXACT [] synonym: "nemaline myopathy 1, autosomal dominant or recessive" EXACT [] synonym: "nemaline myopathy caused by mutation in the tropomyosin 3 gene" EXACT [] xref: MESH:C538348 xref: MIM:609284 xref: MONDO:0012239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110927 name: nemaline myopathy 3 def: "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)" [PMID:10508519 "DO", PMID:11333380 "DO"] synonym: "autosomal dominant typical congenital myopathy 2A" EXACT [] synonym: "CMYP2A" NARROW [] synonym: "congenital actin myopathy with cores" NARROW [] synonym: "congenital myopathy 2A" EXACT [] synonym: "congenital myopathy 2A, severe infantile or typical, autosomal dominant" NARROW [] synonym: "NEM3" EXACT [] synonym: "NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS," EXACT [] synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [] synonym: "nemaline myopathy 3, with intranuclear rods" NARROW [] synonym: "nemaline myopathy caused by mutation in the alpha-actin gene" EXACT [] xref: MESH:C538350 xref: MIM:161800 xref: MONDO:0008070 xref: NCI:C129870 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110928 name: nemaline myopathy 2 def: "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)" [PMID:10051637 "DO", PMID:15221447 "DO"] synonym: "congenital myopathy 2" EXACT [] synonym: "NEB-RELATED DISORDER" BROAD [] synonym: "NEM2" EXACT [] synonym: "nemaline myopathy 2, autosomal recessive" EXACT [] synonym: "nemaline myopathy caused by mutation in the nebulin gene" EXACT [] synonym: "nemaline myopathy, NEB-related" EXACT [] synonym: "nemaline myopathy type 2" EXACT [] xref: MESH:C538349 xref: MIM:256030 xref: MONDO:0009725 xref: NCI:C118784 xref: OMIA:002137 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110929 name: nemaline myopathy 9 def: "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. (DO)" [PMID:24268659 "DO"] synonym: "KLHL41-related condition" BROAD [] synonym: "NEM9" EXACT [] xref: MIM:615731 xref: MONDO:0014326 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110930 name: nemaline myopathy 8 def: "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. (DO)" [PMID:23746549 "DO"] synonym: "NEM8" EXACT [] synonym: "nemaline myopathy 8, autosomal recessive" EXACT [] xref: MIM:615348 xref: NCI:C129871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110931 name: nemaline myopathy 10 def: "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. (DO)" [PMID:25250574 "DO"] synonym: "congenital myopathy 10" EXACT [] synonym: "LMOD3-RELATED CONDITION" EXACT [] synonym: "NEM10" EXACT [] xref: MIM:616165 xref: MONDO:0014513 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110932 name: nemaline myopathy 4 def: "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. (DO)" [PMID:11738357 "DO"] synonym: "CAPM2" NARROW [] synonym: "CAP MYOPATHY 2" NARROW [] synonym: "Cap Myopathy, Tpm2-Related" EXACT [] synonym: "CMYO23" EXACT [] synonym: "congenital myopathy 23" EXACT [] synonym: "NEM4" EXACT [] synonym: "nemaline myopathy 4, autosomal dominant" EXACT [] synonym: "nemaline myopathy caused by mutation in the tropomyosin 2 gene" EXACT [] xref: MESH:C538351 xref: MIM:609285 xref: MONDO:0012240 xref: NCI:C164225 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110933 name: nemaline myopathy 11 def: "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. (DO)" [PMID:28017374 "DO"] synonym: "CMYO24" EXACT [] synonym: "CMYP4" EXACT [] synonym: "congenital myopathy 24" EXACT [] synonym: "MYPN-RELATED CONDITION" BROAD [] synonym: "MYPN-related myopathy" EXACT [] synonym: "NEM11" EXACT [] synonym: "nemaline myopathy 11, autosomal recessive" EXACT [] xref: MIM:617336 xref: MONDO:0015023 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110934 name: nemaline myopathy 7 alt_id: MIM:610687 def: "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (DO)" [PMID:17160903 "DO", PMID:22560515 "DO"] synonym: "NEM7" EXACT [] synonym: "nemaline myopathy 7, autosomal recessive" EXACT [] xref: MESH:C565198 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110935 name: nemaline myopathy 6 alt_id: MIM:609273 def: "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. (DO)" [PMID:21109227 "DO"] synonym: "NEM6" EXACT [] synonym: "nemaline myopathy 6, autosomal dominant" EXACT [] xref: MESH:C538398 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110936 name: nemaline myopathy 5A alt_id: MIM:605355 def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. (DO)" [PMID:10952871 "DO"] synonym: "Amish nemaline myopathy" EXACT [] synonym: "ANM" EXACT [] synonym: "NEM5" EXACT [] synonym: "nemaline myopathy 5, Amish type" EXACT [] synonym: "nemaline myopathy, Amish type" EXACT [] synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" EXACT [] xref: GARD:8334 xref: MESH:C538397 xref: ORDO:98902 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009369 ! nemaline myopathy 5 [Term] id: DOID:0110937 name: autosomal dominant osteopetrosis 1 alt_id: MIM:607634 def: "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [PMID:12579474 "DO", PMID:3377922 "DO"] synonym: "autosomal dominant osteopetrosis type 1" EXACT [] synonym: "autosomal dominant osteopetrosis, type I" EXACT [] synonym: "OPTA1" EXACT [] xref: GARD:4151 xref: MESH:C536056 xref: ORDO:2783 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110938 name: autosomal dominant osteopetrosis 2 def: "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (DO)" [PMID:11741829 "DO", PMID:3588909 "DO"] synonym: "Albers-Schonberg osteopetrosis" EXACT [] synonym: "autosomal dominant Albers-Schonberg disease" BROAD [] synonym: "autosomal dominant osteopetrosis type 2" EXACT [] synonym: "autosomal dominant osteopetrosis, type II" EXACT [] synonym: "OPTA2" EXACT [] xref: GARD:383 xref: MIM:166600 xref: ORDO:53 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060564 ! spinal disease is_a: DOID:13533 ! osteopetrosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110939 name: autosomal recessive osteopetrosis 5 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. (DO)" [PMID:12627228 "DO"] synonym: "infantile malignant osteopetrosis 3" EXACT [] synonym: "OPTB5" EXACT [] synonym: "OSTM1-RELATED CONDITION" EXACT [] xref: GARD:4153 xref: MESH:C566883 xref: MIM:259720 xref: MONDO:0009817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110940 name: autosomal recessive osteopetrosis 8 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)" [PMID:22499339 "DO"] synonym: "OPTB8" EXACT [] synonym: "SNX10-RELATED CONDITION" EXACT [] xref: MIM:615085 xref: MONDO:0014040 xref: NCI:C150556 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110941 name: autosomal recessive osteopetrosis 3 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. (DO)" [PMID:1928091 "DO"] synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [] synonym: "CA2-related condition" BROAD [] synonym: "carbonic anhydrase 2 deficiency" EXACT [] synonym: "carbonic anhydrase II deficiency" EXACT [] synonym: "CARBONIC ANHYDRASE II VARIANT" RELATED [] synonym: "Guibaud Vainsel syndrome" EXACT [] synonym: "marble brain disease" EXACT [] synonym: "OPTB3" EXACT [] synonym: "osteopetrosis with renal tubular acidosis" EXACT [] xref: GARD:4154 xref: MESH:C536058 xref: MIM:259730 xref: MONDO:0009818 xref: NCI:C118438 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis is_a: DOID:14219 ! renal tubular acidosis is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:0110942 name: autosomal recessive osteopetrosis 1 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. (DO)" [PMID:10888887 "DO"] synonym: "Albers-Schonberg Disease, Autosomal Recessive" EXACT [] synonym: "infantile malignant osteopetrosis 1" EXACT [] synonym: "Marble Bones, Autosomal Recessive" EXACT [] synonym: "OPTB1" EXACT [] synonym: "TCIRG1-RELATED CONDITION" EXACT [] xref: GARD:2579 xref: MESH:C564915 xref: MIM:259700 xref: MONDO:0009815 xref: NCI:C167215 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110943 name: autosomal recessive osteopetrosis 2 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. (DO)" [PMID:17632511 "DO"] synonym: "mild autosomal recessive form of osteopetrosis" EXACT [] synonym: "OPTB2" EXACT [] synonym: "osteoclast-poor osteopetrosis" EXACT [] synonym: "osteopetrosis, mild autosomal recessive form" EXACT [] synonym: "TNFSF11-RELATED CONDITION" EXACT [] xref: GARD:4157 xref: MESH:C536059 xref: MIM:259710 xref: MONDO:0009816 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110944 name: autosomal recessive osteopetrosis 4 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. (DO)" [PMID:11207362 "DO"] synonym: "infantile malignant osteopetrosis 2" EXACT [] synonym: "OPTB4" EXACT [] xref: GARD:5993 xref: MESH:C566933 xref: MIM:611490 xref: MONDO:0012676 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110945 name: autosomal recessive osteopetrosis 6 def: "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. (DO)" [PMID:17404618 "DO"] synonym: "OPTB6" EXACT [] synonym: "Osteopetrosis, Autosomal Recessive, Intermediate Form" EXACT [] xref: GARD:4156 xref: MESH:C566931 xref: MIM:611497 xref: MONDO:0012679 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110946 name: autosomal recessive osteopetrosis 7 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. (DO)" [PMID:18606301 "DO"] synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [] synonym: "autosomal recessive osteopetrosis type 7" EXACT [] synonym: "OPTB7" EXACT [] synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [] synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [] xref: GARD:10106 xref: MESH:C567354 xref: MIM:612301 xref: MONDO:0012859 xref: ORDO:178389 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0110947 name: Waardenburg syndrome type 2B alt_id: MIM:600193 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. (DO)" [PMID:20127975 "DO", PMID:7951321 "DO"] synonym: "Waardenburg syndrome type IIB" EXACT [] synonym: "WS2B" EXACT [] xref: GARD:5522 xref: MESH:C536465 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110948 name: Waardenburg syndrome type 1 def: "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. (DO)" [PMID:1347148 "DO", PMID:20127975 "DO"] synonym: "Waardenburg's syndrome type 1" EXACT [] synonym: "Waardenburg syndrome type I" EXACT [] synonym: "Waardenburg syndrome with dystopia canthorum" EXACT [] synonym: "WS1" EXACT [] xref: MIM:193500 xref: ORDO:894 is_a: DOID:9258 ! Waardenburg syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110949 name: Waardenburg syndrome type 3 def: "A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. (DO)" [PMID:20127975 "DO", PMID:8447316 "DO"] synonym: "Klein Waardenburg syndrome" EXACT [] synonym: "Waardenburg syndrome, type III" EXACT [] synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [] synonym: "WS3" EXACT [] xref: GARD:5523 xref: MIM:148820 xref: ORDO:896 is_a: DOID:9258 ! Waardenburg syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110950 name: Waardenburg syndrome type 2A alt_id: MIM:193510 alt_id: OMIA:001401 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. (DO)" [PMID:20127975 "DO", PMID:7874167 "DO"] synonym: "Waardenburg syndrome, type IIA" EXACT [] synonym: "Waardenburg syndrome without dystopia canthorum" EXACT [] synonym: "WS2A" EXACT [] xref: GARD:5521 xref: MESH:C536464 is_a: DOID:0080578 ! digenic disease is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110951 name: Waardenburg syndrome type 2C alt_id: MIM:606662 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. (DO)" [PMID:11810298 "DO", PMID:20127975 "DO"] synonym: "Waardenburg syndrome type IIC" EXACT [] synonym: "WS2C" EXACT [] xref: MESH:C564684 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110953 name: Waardenburg syndrome type 4A def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. (DO)" [PMID:8001158 "DO"] synonym: "Waardenburg syndrome type IVA" EXACT [] synonym: "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A" EXACT [] synonym: "WS4A" EXACT [] xref: MIM:277580 is_a: DOID:9005027 ! Waardenburg Syndrome Type 4 [Term] id: DOID:0110954 name: Waardenburg syndrome type 4B def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. (DO)" [PMID:8630502 "DO"] synonym: "EDN3-related condition" BROAD [] synonym: "Waardenburg syndrome type IVB" EXACT [] synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [] synonym: "WS4B" EXACT [] xref: MESH:C567680 xref: MIM:613265 xref: MONDO:001320 is_a: DOID:9005027 ! Waardenburg Syndrome Type 4 [Term] id: DOID:0110955 name: Waardenburg syndrome type 4C alt_id: MIM:613266 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. (DO)" [PMID:9462749 "DO"] synonym: "Waardenburg syndrome type IVC" EXACT [] synonym: "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C" EXACT [] synonym: "Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc" EXACT [] synonym: "WS4C" EXACT [] xref: MESH:C567679 is_a: DOID:9005027 ! Waardenburg Syndrome Type 4 [Term] id: DOID:0110956 name: Waardenburg syndrome type 2E alt_id: MIM:611584 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. (DO)" [PMID:10441344 "DO", PMID:20127975 "DO"] synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" EXACT [] synonym: "Waardenburg Syndrome Type 2E, With Neurologic Involvement" EXACT [] synonym: "Waardenburg syndrome type 2E, with or without neurologic involvement" EXACT [] synonym: "Waardenburg Syndrome Type 2E, Without Neurologic Involvement" EXACT [] synonym: "Waardenburg syndrome type IIE" EXACT [] synonym: "WS2E" EXACT [] synonym: "WS2E with or without neurological involvement" EXACT [] synonym: "WS2E, with or without neurologic involvement" EXACT [] xref: MESH:C536463 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110957 name: Gaucher's disease type I def: "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [PMID:1897529 "DO"] synonym: "Gaucher's disease, type 1" EXACT [] synonym: "Gaucher disease, noncerebral juvenile" EXACT [] synonym: "Gaucher disease, non neuronopathic form" EXACT [] synonym: "Gaucher disease type 1" EXACT [] synonym: "Gaucher disease, type I" EXACT [] synonym: "GD1" EXACT [] synonym: "GD I" EXACT [] synonym: "juvenile Gaucher disease" EXACT [] synonym: "non neuronopathic Gaucher disease" EXACT [] xref: GARD:2441 xref: MIM:230800 xref: MONDO:0009265 xref: ORDO:77259 is_a: DOID:1926 ! Gaucher's disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110958 name: Gaucher's disease type II alt_id: MIM:230900 def: "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [PMID:10649495 "DO", PMID:2880291 "DO"] synonym: "acute cerebral Gaucher disease" EXACT [] synonym: "acute neuronopathic Gaucher disease" EXACT [] synonym: "Gaucher disease, acute neuronopathic type" EXACT [] synonym: "Gaucher disease type 2" EXACT [] synonym: "Gaucher disease, type II" EXACT [] synonym: "GD2" EXACT [] synonym: "GD II" EXACT [] synonym: "infantile cerebral Gaucher disease" EXACT [] xref: MESH:C531689 xref: ORDO:77260 is_a: DOID:1926 ! Gaucher's disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110959 name: Gaucher's disease type III def: "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [PMID:2378352 "DO", PMID:8413956 "DO"] synonym: "Gaucher disease, chronic neuronopathic type" EXACT [] synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT [] synonym: "Gaucher disease, subacute neuronopathic form" EXACT [] synonym: "Gaucher disease, subacute neuronopathic type" EXACT [] synonym: "Gaucher disease type 3" EXACT [] synonym: "Gaucher disease type III" EXACT [] synonym: "GD3" EXACT [] synonym: "GD III" EXACT [] synonym: "subacute neuronopathic Gaucher disease" EXACT [] xref: GARD:2443 xref: MESH:C565554 xref: MIM:231000 xref: MONDO:0009267 xref: ORDO:77261 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110960 name: Gaucher's disease perinatal lethal alt_id: MIM:608013 def: "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [PMID:12838552 "DO", PMID:1437405 "DO"] synonym: "Gaucher disease, collodion type" EXACT [] synonym: "Gaucher disease, fetal" EXACT [] synonym: "GAUCHER DISEASE, PERINATAL LETHAL" EXACT [] xref: MESH:C564306 xref: ORDO:85212 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110961 name: atypical Gaucher's disease due to saposin C deficiency alt_id: MIM:610539 def: "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. (DO)" [PMID:17919309 "DO"] synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [] synonym: "GDSAPC" EXACT [] xref: MESH:C566435 xref: ORDO:309252 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110962 name: brachydactyly-preaxial hallux varus syndrome def: "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. (DO)" [PMID:5082920 "DO"] synonym: "Christian brachydactyly" EXACT [] synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" EXACT [] synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [] xref: MESH:C537087 xref: MIM:112450 xref: MONDO:0007214 xref: ORDO:1278 is_a: DOID:0050581 ! brachydactyly is_a: DOID:9002707 ! Hallux Varus [Term] id: DOID:0110963 name: Ballard syndrome alt_id: MIM:112440 alt_id: RDO:0002868 def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. (DO)" [PMID:4009643 "DO"] synonym: "Brachydactyly Ballard type" EXACT [] synonym: "Brachydactyly Types B and E Combined" EXACT [] synonym: "Pitt Williams brachydactyly" EXACT [] xref: MESH:C537094 xref: ORDO:93395 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110964 name: brachydactyly type A1 def: "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)" [PMID:12525541 "DO", PMID:14043746 "DO"] synonym: "BDA1" EXACT [] synonym: "Farabee-Type Brachydactyly" EXACT [] synonym: "IHH-RELATED CONDITION" BROAD [] synonym: "IHH-RELATED DISORDERS" BROAD [] synonym: "SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 2" EXACT [] synonym: "SNSK2" EXACT [] xref: GARD:978 xref: MESH:C537088 xref: MIM:112500 xref: MONDO:0007215 xref: ORDO:93388 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110965 name: brachydactyly type A2 alt_id: MIM:112600 def: "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (DO)" [PMID:14523231 "DO", PMID:16127465 "DO", PMID:21357617 "DO"] synonym: "BDA2" EXACT [] synonym: "brachymesophalangy 2" EXACT [] synonym: "brachymesophalangy II" EXACT [] synonym: "Mohr-Wriedt type brachydactyly" EXACT [] xref: GARD:979 xref: MESH:C537089 xref: ORDO:93396 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110966 name: brachydactyly type A3 alt_id: MIM:112700 alt_id: RDO:0002864 def: "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. (DO)" [PMID:7416253 "DO"] synonym: "BDA3" EXACT [] synonym: "brachydactyly-clinodactyly" EXACT [] synonym: "brachymesophalangy 5" EXACT [] synonym: "brachymesophalangy V" EXACT [] xref: GARD:963 xref: MESH:C537090 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110967 name: brachydactyly type A4 def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. (DO)" [PMID:4325377 "DO", PMID:5663738 "DO"] synonym: "BDA4" EXACT [] synonym: "brachymesophalangy 2 and 5" EXACT [] synonym: "brachymesophalangy II and V" EXACT [] synonym: "temtamy type brachydactyly" EXACT [] xref: GARD:990 xref: MESH:C537097 xref: MIM:112800 xref: MONDO:0007218 xref: ORDO:93394 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110968 name: brachydactyly type A6 def: "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. (DO)" [PMID:4073129 "DO"] synonym: "BDA6" EXACT [] synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [] synonym: "Osebold-Remondini syndrome" EXACT [] xref: GARD:983 xref: MESH:C537092 xref: MIM:112910 xref: MONDO:0007219 xref: ORDO:93382 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110969 name: brachydactyly type B1 alt_id: MIM:113000 def: "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. (DO)" [PMID:10700182 "DO", PMID:9973295 "DO"] synonym: "BDB" EXACT [] synonym: "BDB1" EXACT [] synonym: "brachydactyly, type B" EXACT [] synonym: "ROR2-RELATED CONDITION" BROAD [] xref: MESH:C566196 is_a: DOID:0050581 ! brachydactyly is_a: DOID:630 ! genetic disease [Term] id: DOID:0110970 name: brachydactyly type C alt_id: MIM:113100 def: "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [PMID:9288091 "DO"] synonym: "BDC" EXACT [] synonym: "brachydactyly, Haws type" EXACT [] xref: GARD:986 xref: MESH:C537093 xref: ORDO:93384 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110971 name: brachydactyly type D alt_id: MIM:113200 def: "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. (DO)" [PMID:12649808 "DO"] synonym: "BDD" EXACT [] synonym: "stub thumb" EXACT [] xref: MESH:C562420 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110972 name: brachydactyly type E1 def: "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)" [PMID:12649808 "DO", PMID:8933344 "DO"] synonym: "BDE1" EXACT [] synonym: "BRACHYDACTYLY SYNDROME TYPE E" EXACT [] xref: MIM:113300 xref: MONDO:0007223 is_a: DOID:630 ! genetic disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006432 ! Brachydactyly, Type E [Term] id: DOID:0110973 name: Mononen-Karnes-Senac syndrome alt_id: MIM:301940 def: "A brachydactyly characterized by short, abducted thumbs and great toes. (DO)" [PMID:1632443 "DO"] synonym: "Mononen type brachydactyly" EXACT [] synonym: "short and abducted thumbs and great toes" EXACT [] xref: MESH:C535914 xref: ORDO:2565 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0110974 name: brachydactyly type A1B alt_id: MIM:607004 def: "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. (DO)" [PMID:11897820 "DO"] synonym: "BDA1B" EXACT [] xref: MESH:C564635 xref: RDO:0013528 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:630 ! genetic disease [Term] id: DOID:0110975 name: brachydactyly type B2 alt_id: RDO:0009521 def: "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)" [PMID:17668388 "DO"] synonym: "BDB2" EXACT [] xref: ICD10CM:Q73.8 xref: MIM:611377 xref: ORDO:140908 is_a: DOID:0050581 ! brachydactyly is_a: DOID:630 ! genetic disease [Term] id: DOID:0110976 name: brachydactyly type E2 def: "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)" [PMID:20015959 "DO", PMID:20170896 "DO"] synonym: "BDE2" EXACT [] synonym: "PTHLH-RELATED CONDITION" EXACT [] xref: MIM:613382 is_a: DOID:630 ! genetic disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006432 ! Brachydactyly, Type E [Term] id: DOID:0110977 name: brachydactyly type A1C alt_id: RDO:9000200 def: "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [PMID:20683927 "DO"] synonym: "BDA1C" EXACT [] synonym: "BRACHYDACTYLY, TYPE A1, C" EXACT [] xref: MIM:615072 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:630 ! genetic disease [Term] id: DOID:0110978 name: brachydactyly type A1D alt_id: RDO:9000376 def: "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)" [PMID:25758993 "DO"] synonym: "BDA1D" EXACT [] synonym: "brachydactyly type A1, D" EXACT [] xref: MIM:616849 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:630 ! genetic disease [Term] id: DOID:0110979 name: Sugarman brachydactyly def: "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. (DO)" [PMID:7083610 "DO"] synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [] xref: GARD:5058 xref: MIM:272150 xref: MONDO:0010087 xref: ORDO:498602 is_a: DOID:0050581 ! brachydactyly created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110980 name: Joubert syndrome 1 alt_id: MIM:213300 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)" [PMID:19668216 "DO"] synonym: "agenesis of cerebellar vermis" EXACT [] synonym: "cerebellar vermis agenesis" EXACT [] synonym: "Cerebello-Oculo-Renal Syndrome" EXACT [] synonym: "Cerebellooculorenal syndrome 1" EXACT [] synonym: "Cerebelloparenchymal disorder 4" EXACT [] synonym: "cerebelloparenchymal disorder IV" EXACT [] synonym: "CORS1" EXACT [] synonym: "CPD4" EXACT [] synonym: "familial aplasia of the vermis" EXACT [] synonym: "INPP5E-RELATED CONDITION" BROAD [] synonym: "JBTS1" EXACT [] synonym: "Joubert-Boltshauser syndrome" EXACT [] xref: MESH:C536293 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0110981 name: Joubert syndrome 10 def: "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. (DO)" [PMID:19800048 "DO"] synonym: "JBTS10" EXACT [] xref: MESH:C567582 xref: MIM:300804 xref: MONDO:0010431 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0110982 name: Joubert syndrome 13 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. (DO)" [PMID:21725307 "DO"] synonym: "JBTS13" EXACT [] synonym: "TCTN1-related condition" BROAD [] xref: MIM:614173 xref: MONDO:0013608 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110983 name: Joubert syndrome 14 def: "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (DO)" [PMID:17603801 "DO", PMID:22152675 "DO"] synonym: "JBTS14" EXACT [] synonym: "TMEM237-related condition" BROAD [] xref: MIM:614424 xref: MONDO:0013745 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110984 name: Joubert syndrome 15 def: "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. (DO)" [PMID:22246503 "DO"] synonym: "CEP41-related condition" BROAD [] synonym: "JBTS15" EXACT [] synonym: "JOUBERT SYNDROME 12/15, DIGENIC" NARROW [] synonym: "JOUBERT SYNDROME 9/15, DIGENIC" NARROW [] xref: MIM:614464 xref: MONDO:0013763 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080578 ! digenic disease is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110985 name: Joubert Syndrome 16 def: "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. (DO)" [PMID:22282472 "DO"] synonym: "JBTS16" EXACT [] synonym: "TMEM138-RELATED CONDITION" EXACT [] xref: MIM:614465 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110986 name: Joubert Syndrome 17 def: "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. (DO)" [PMID:26092869 "DO"] synonym: "CPLANE1-RELATED CONDITION" BROAD [] synonym: "JBTS17" EXACT [] xref: MIM:614615 xref: MONDO:0013824 xref: NCI:C175702 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110987 name: Joubert Syndrome 18 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. (DO)" [PMID:22883145 "DO"] synonym: "JBTS18" EXACT [] xref: MIM:614815 xref: MONDO:0013896 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110988 name: Joubert Syndrome 2 alt_id: MIM:608091 def: "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (DO)" [PMID:20036350 "DO", PMID:9373798 "DO"] synonym: "Cerebellooculorenal syndrome 2" EXACT [] synonym: "CORS2" EXACT [] synonym: "JBTS2" EXACT [] synonym: "JOUBERT SYNDROME TYPE 2" EXACT [] xref: GARD:10167 xref: MESH:C536294 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0110989 name: Joubert syndrome 20 def: "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. (DO)" [PMID:23012439 "DO"] synonym: "JBTS20" EXACT [] synonym: "TMEM231-RELATED CONDITION" BROAD [] xref: MIM:614970 xref: MONDO:0013994 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110990 name: Joubert syndrome 21 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. (DO)" [PMID:24360808 "DO"] synonym: "CSPP1-RELATED CONDITION" EXACT [] synonym: "JBTS21" EXACT [] xref: MIM:615636 xref: MONDO:0014288 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110991 name: Joubert syndrome 22 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. (DO)" [PMID:24166846 "DO"] synonym: "JBTS22" EXACT [] synonym: "PDE6D-RELATED CONDITION" EXACT [] xref: MIM:615665 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110992 name: Joubert syndrome 23 def: "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)" [PMID:26096313 "DO"] synonym: "JBTS23" EXACT [] synonym: "KIAA0586-RELATED CONDITION" BROAD [] xref: MIM:616490 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2016-11-09T00:00:00Z [Term] id: DOID:0110993 name: Joubert syndrome 24 def: "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (DO)" [PMID:21565611 "DO", PMID:25118024 "DO"] synonym: "JBTS24" EXACT [] synonym: "TCTN2-RELATED DISORDER" BROAD [] synonym: "TCTN2-RELATED DISORDERS" BROAD [] xref: MIM:616654 xref: MONDO:0014724 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:0110994 name: Joubert syndrome 25 def: "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. (DO)" [PMID:26477546 "DO"] synonym: "CEP104-related condition" BROAD [] synonym: "JBTS25" EXACT [] xref: MIM:616781 xref: MONDO:0014770 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2016-03-10T00:00:00Z [Term] id: DOID:0110995 name: Joubert Syndrome 26 def: "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. (DO)" [PMID:26714646 "DO"] synonym: "JBTS26" EXACT [] synonym: "KATNIP-RELATED CONDITION" EXACT [] xref: MIM:616784 xref: MONDO:0014771 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2016-03-11T00:00:00Z [Term] id: DOID:0110996 name: Joubert Syndrome 27 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)" [PMID:24886560 "DO"] synonym: "B9D1-RELATED DISORDER" BROAD [] synonym: "JBTS27" EXACT [] xref: MIM:617120 xref: MONDO:0014927 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2016-10-11T00:00:00Z [Term] id: DOID:0110997 name: Joubert Syndrome 28 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)" [PMID:24886560 "DO"] synonym: "JBTS28" EXACT [] xref: MIM:617121 xref: RDO:9001267 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2016-10-11T00:00:00Z [Term] id: DOID:0110998 name: Joubert syndrome 3 alt_id: MIM:608629 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)" [PMID:15322546 "DO"] synonym: "AHI1-RELATED CONDITION" EXACT [] synonym: "JBTS3" EXACT [] xref: MESH:C536295 xref: NCI:C148259 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1279 ! ocular motility disease is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0110999 name: Joubert syndrome 4 def: "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)" [PMID:15138899 "DO"] synonym: "JBTS4" EXACT [] synonym: "Joubert syndrome with renal defect" EXACT [] xref: GARD:10169 xref: MESH:C536296 xref: MIM:609583 xref: MONDO:0012308 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0111000 name: Joubert syndrome 5 alt_id: MIM:610188 def: "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)" [PMID:16682973 "DO"] synonym: "JBTS5" EXACT [] xref: MESH:C537688 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1279 ! ocular motility disease is_a: DOID:557 ! kidney disease is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0111001 name: Joubert syndrome 6 alt_id: MIM:610688 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (DO)" [PMID:17160906 "DO"] synonym: "JBTS6" EXACT [] xref: MESH:C537689 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1279 ! ocular motility disease is_a: DOID:557 ! kidney disease [Term] id: DOID:0111002 name: Joubert syndrome 7 alt_id: MIM:611560 def: "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. (DO)" [PMID:17558409 "DO"] synonym: "JBTS7" EXACT [] xref: MESH:C566916 xref: NCI:C159653 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:1279 ! ocular motility disease is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0111003 name: Joubert syndrome 8 alt_id: MIM:612291 def: "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)" [PMID:18674751 "DO"] synonym: "ARL13B-RELATED CONDITION" EXACT [] synonym: "JBTS8" EXACT [] xref: MESH:C567358 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0111004 name: Joubert syndrome 9 alt_id: MIM:612285 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)" [PMID:18387594 "DO"] synonym: "CC2D2A-RELATED DISORDER" BROAD [] synonym: "JBTS9" EXACT [] synonym: "JOUBERT SYNDROME 9/15, DIGENIC" NARROW [] xref: MESH:C567364 xref: NCI:C181002 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080578 ! digenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:557 ! kidney disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0111005 name: cone-rod dystrophy 2 alt_id: OMIA:001675 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)" [PMID:9390563 "DO"] synonym: "CORD2" EXACT [] synonym: "CRD2" EXACT [] synonym: "RCRD2" EXACT [] synonym: "retinal cone-rod dystrophy 2" EXACT [] xref: GARD:6145 xref: MIM:120970 xref: NCI:C162399 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111006 name: X-linked cone-rod dystrophy 2 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. (DO)" [PMID:9199568 "DO"] synonym: "COD2" EXACT [] synonym: "CONE DYSTROPHY 2, X-LINKED" EXACT [] synonym: "CORDX2" EXACT [] synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD [] xref: MESH:C564717 xref: MIM:300085 xref: MONDO:0010245 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111007 name: X-linked cone-rod dystrophy 3 def: "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. (DO)" [PMID:16505158 "DO"] synonym: "CORDX3" EXACT [] synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD [] xref: MESH:C564507 xref: MIM:300476 xref: MONDO:0010335 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111008 name: X-linked cone-rod dystrophy 1 def: "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)" [PMID:11857109 "DO"] synonym: "COD1" EXACT [] synonym: "CORDX1" EXACT [] synonym: "X-linked cone dystrophy 1" EXACT [] synonym: "X-linked cone-rod dystrophy" BROAD [] synonym: "X-linked cone-rod dystrophy, type 1" EXACT [] xref: MESH:C564438 xref: MESH:C564439 xref: MIM:304020 xref: MONDO:0010566 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111009 name: cone-rod dystrophy 1 alt_id: MIM:600624 alt_id: OMIA:001674 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. (DO)" [PMID:1867279 "DO"] synonym: "CORD1" EXACT [] synonym: "CRD1" EXACT [] xref: GARD:10651 xref: MESH:C563469 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111010 name: cone-rod dystrophy 5 alt_id: MIM:600977 def: "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. (DO)" [PMID:17377520 "DO"] synonym: "CORD5" EXACT [] synonym: "PITPNM3-RELATED CONDITION" EXACT [] xref: MESH:C563415 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111011 name: cone-rod dystrophy 6 alt_id: MIM:601777 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. (DO)" [PMID:9618177 "DO"] synonym: "Cone degeneration, autosomal dominant progressive" EXACT [] synonym: "CORD6" EXACT [] synonym: "RCD2" EXACT [] synonym: "retinal cone dystrophy 2" EXACT [] xref: GARD:10656 xref: MESH:C538363 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111012 name: cone-rod dystrophy 7 alt_id: MIM:603649 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. (DO)" [PMID:12659814 "DO", PMID:35947379 "DO"] synonym: "CORD7" EXACT [] xref: MESH:C566350 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111013 name: cone-rod dystrophy 3 alt_id: MIM:604116 alt_id: OMIA:001520 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. (DO)" [PMID:9466990 "DO"] synonym: "CORD3" EXACT [] xref: GARD:10653 xref: MESH:C565827 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111014 name: cone-rod dystrophy 8 alt_id: MIM:605549 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. (DO)" [PMID:11053266 "DO"] synonym: "CORD8" EXACT [] xref: MESH:C565322 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111015 name: Newfoundland cone-rod dystrophy alt_id: MIM:607476 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. (DO)" [PMID:11868161 "DO"] synonym: "NFRCD" EXACT [] xref: MESH:C564391 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111016 name: cone-rod dystrophy 13 alt_id: MIM:608194 alt_id: OMIA:001432 def: "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. (DO)" [PMID:12920076 "DO"] synonym: "cone-rod dystrophy 4" EXACT [] synonym: "CORD13" EXACT [] xref: MESH:C567698 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111017 name: cone-rod dystrophy 10 alt_id: MIM:610283 def: "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. (DO)" [PMID:16199541 "DO"] synonym: "CORD10" EXACT [] synonym: "SEMA4A-RELATED CONDITION" BROAD [] xref: MESH:C564597 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111018 name: cone-rod dystrophy 11 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO)" [PMID:25789692 "DO"] synonym: "CORD11" EXACT [] xref: MESH:C563671 xref: MIM:610381 xref: MONDO:0012483 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111019 name: cone-rod dystrophy 12 alt_id: MIM:612657 def: "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. (DO)" [PMID:18654668 "DO", PMID:24474277 "DO", PMID:35947379 "DO"] synonym: "CORD12" EXACT [] xref: MESH:C567206 xref: NCI:C212886 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111020 name: cone-rod dystrophy 9 alt_id: RDO:0009706 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. (DO)" [PMID:19409519 "DO"] synonym: "ADAM9-RELATED CONDITION" EXACT [] synonym: "CORD9" EXACT [] xref: MIM:612775 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111021 name: cone-rod dystrophy 15 def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. (DO)" [PMID:20805371 "DO"] synonym: "CDHR1-RELATED CONDITION" BROAD [] synonym: "CORD15" EXACT [] synonym: "MACULAR DYSTROPHY, RETINAL, 5" RELATED [] synonym: "MCDR5" RELATED [] synonym: "RETINITIS PIGMENTOSA 65" RELATED [] synonym: "RP65" RELATED [] xref: MIM:613660 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111022 name: cone-rod dystrophy 16 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)" [PMID:26865426 "DO"] synonym: "C8ORF37-RELATED DISORDER" BROAD [] synonym: "CFAP418-RELATED CONDITION" BROAD [] synonym: "CORD16" EXACT [] synonym: "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" RELATED [] synonym: "retinitis pigmentosa 64" RELATED [] synonym: "RP64" RELATED [] xref: MIM:614500 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111023 name: cone-rod dystrophy 17 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. (DO)" [PMID:22929024 "DO"] synonym: "CORD17" EXACT [] xref: MIM:615163 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:0111024 name: cone-rod dystrophy 18 def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. (DO)" [PMID:23746546 "DO"] synonym: "CORD18" EXACT [] xref: MIM:615374 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111025 name: cone-rod dystrophy 19 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. (DO)" [PMID:24791901 "DO"] synonym: "CORD19" EXACT [] synonym: "TTLL5-RELATED CONDITION" EXACT [] xref: MIM:615860 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111026 name: cone-rod dystrophy 20 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. (DO)" [PMID:24945461 "DO", PMID:25018096 "DO"] synonym: "CORD 20" EXACT [] synonym: "CORD20" EXACT [] synonym: "POC1B-RELATED CONDITION" EXACT [] xref: MIM:615973 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111027 name: hemochromatosis type 2A def: "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. (DO)" [PMID:14647275 "DO"] synonym: "hemochromatosis type 2a, modifier of" RELATED [] synonym: "HFE2A" EXACT [] synonym: "HJV-RELATED CONDITION" EXACT [] xref: MIM:602390 is_a: DOID:0111034 ! hemochromatosis type 2 created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0111028 name: hemochromatosis type 4 def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. (DO)" [PMID:11431687 "DO"] synonym: "autosomal dominant hereditary hemochromatosis" EXACT [] synonym: "ferroportin disease" EXACT [] synonym: "hemochromatosis, autosomal dominant" EXACT [] synonym: "hemochromatosis due to defect in ferroportin" EXACT [] synonym: "HFE4" EXACT [] xref: GARD:10094 xref: MESH:C537249 xref: MIM:606069 xref: MONDO:0011631 xref: ORDO:139491 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111029 name: hemochromatosis type 1 def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. (DO)" [PMID:8696333 "DO"] synonym: "hemochromatosis type 1, modifier of" RELATED [] synonym: "hereditary hemochromatosis type 1" EXACT [] synonym: "HFE1" EXACT [] synonym: "HFE-RELATED CONDITION" EXACT [] synonym: "symptomatic form of classic hemochromatosis" EXACT [] synonym: "symptomatic form of hemochromatosis type 1" EXACT [] synonym: "symptomatic form of HFE-related hereditary hemochromatosis" EXACT [] xref: EFO:0006513 xref: GARD:10417 xref: MIM:235200 xref: ORDO:465508 is_a: DOID:2352 ! hemochromatosis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0111030 name: hemochromatosis type 3 alt_id: MIM:604250 def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. (DO)" [PMID:10802645 "DO"] synonym: "Hemochromatosis due to defect in transferrin receptor 2" EXACT [] synonym: "hereditary hemochromatosis type 3" EXACT [] synonym: "HFE3" EXACT [] synonym: "TFR2-RELATED CONDITION" EXACT [] synonym: "TFR2-related hemochromatosis" EXACT [] xref: GARD:10093 xref: MESH:C537248 xref: ORDO:225123 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111031 name: hemochromatosis type 5 alt_id: MIM:615517 def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. (DO)" [PMID:11389486 "DO"] synonym: "FTH1-associated iron overload" EXACT [] synonym: "FTH1-RELATED CONDITION" BROAD [] synonym: "FTH1-related iron overload" EXACT [] synonym: "HEREDITARY HEMOCHROMATOSIS TYPE 5" EXACT [] synonym: "HFE5" EXACT [] synonym: "iron overload, autosomal dominant" EXACT [] xref: MESH:C565020 xref: ORDO:247790 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111032 name: hemochromatosis type 2B alt_id: MIM:613313 def: "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. (DO)" [PMID:12469120 "DO"] synonym: "HAMP-RELATED CONDITION" EXACT [] synonym: "HFE2B" EXACT [] xref: MESH:C566557 is_a: DOID:0111034 ! hemochromatosis type 2 [Term] id: DOID:0111033 name: African iron overload def: "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. (DO)" [PMID:10607817 "DO"] synonym: "Bantu siderosis" EXACT [] synonym: "hereditary iron overload and African Americans" EXACT [] synonym: "iron overload in Africa" EXACT [] xref: ICD10CM:E83.1 xref: MESH:C537904 xref: MIM:601195 xref: MONDO:0011012 xref: ORDO:139507 is_a: DOID:2352 ! hemochromatosis is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0111034 name: hemochromatosis type 2 def: "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1170/ "DO", PMID:10205270 "DO"] synonym: "HFE2" EXACT [] synonym: "JH" EXACT [] synonym: "JHH" EXACT [] synonym: "juvenile hemochromatosis" EXACT [] xref: GARD:10092 xref: MESH:C537247 xref: ORDO:79230 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111035 name: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. (DO)" [PMID:10476042 "DO", PMID:8878478 "DO"] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [] synonym: "CADASIL 1" EXACT [] synonym: "CADASIL1" EXACT [] synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" EXACT [] synonym: "hereditary dementia, multi-infarct type" EXACT [] synonym: "RECURRENT SUBCORTICAL INFARCTS" NARROW [] xref: MIM:125310 xref: MONDO:0000914 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13945 ! CADASIL created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0111036 name: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 def: "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. (DO)" [PMID:26063658 "DO"] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [] synonym: "CADASIL 2" EXACT [] synonym: "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2" EXACT [] synonym: "CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2" EXACT [] synonym: "HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE" EXACT [] xref: ICD10CM:F01.1 xref: MIM:616779 xref: MONDO:0014768 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13945 ! CADASIL created_by: rgd creation_date: 2016-02-09T00:00:00Z [Term] id: DOID:0111037 name: glycine N-methyltransferase deficiency alt_id: RDO:9004224 def: "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. (DO)" [PMID:1159664 "DO", PMID:11810299 "DO"] synonym: "GNMT deficiency" EXACT [] synonym: "GNMT-RELATED CONDITION" EXACT [] synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [] synonym: "hypermethioninemia due to GNMT deficiency" EXACT [] xref: GARD:10764 xref: MIM:606664 xref: ORDO:289891 is_a: DOID:0050544 ! hypermethioninemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0111038 name: hypermethioninemia due to adenosine kinase deficiency alt_id: MESH:C567015 def: "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)" [PMID:17120046 "DO", PMID:21963049 "DO"] synonym: "ADK hypermethioninemia" EXACT [] synonym: "ADK-RELATED CONDITION" EXACT [] synonym: "autosomal recessive mental retardation 8" EXACT [] synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [] synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [] synonym: "MRT8" EXACT [] xref: ICD10CM:E72.1 xref: MIM:614300 xref: ORDO:289290 is_a: DOID:0050544 ! hypermethioninemia is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0111039 name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase def: "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)" [PMID:15024124 "DO", PMID:2380820 "DO"] synonym: "AHCY-RELATED DISORDER" EXACT [] synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [] synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" EXACT [] synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [] xref: GARD:13177 xref: MIM:613752 xref: ORDO:88618 is_a: DOID:0050544 ! hypermethioninemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0111040 name: glycogen storage disease IXD alt_id: MIM:300559 def: "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (DO)" [PMID:22238410 "DO", PMID:7874115 "DO"] synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogenosis type 9D" EXACT [] synonym: "glycogenosis type 9E" EXACT [] synonym: "glycogenosis type IXd" EXACT [] synonym: "glycogenosis type IXe" EXACT [] synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogen storage disease type 9D" EXACT [] synonym: "glycogen storage disease type 9E" EXACT [] synonym: "glycogen storage disease type IXd" EXACT [] synonym: "glycogen storage disease type IXe" EXACT [] synonym: "GSD9D" EXACT [] synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "GSD IXD" EXACT [] synonym: "GSD type 9D" EXACT [] synonym: "GSD type 9E" EXACT [] synonym: "GSD type IXd" EXACT [] synonym: "GSD type IXe" EXACT [] synonym: "Muscle Phosphorylase Kinase Deficiency" EXACT [] synonym: "PHKA1-RELATED CONDITION" EXACT [] synonym: "X-linked muscke glycogenosis" EXACT [] synonym: "X-linked muscle glycogenosis" EXACT [] xref: MESH:C564485 xref: ORDO:715 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111041 name: glycogen storage disease IXB def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. (DO)" [PMID:25266922 "DO", PMID:9215682 "DO"] synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogenosis of liver and muscle, autosomal recessive" EXACT [] synonym: "glycogenosis type 9B" EXACT [] synonym: "glycogenosis type IXb" EXACT [] synonym: "glycogen storage disease type 9B" EXACT [] synonym: "glycogen storage disease type IXb" EXACT [] synonym: "GSD9B" EXACT [] synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [] synonym: "GSD IXB" EXACT [] synonym: "GSD type 9B" EXACT [] synonym: "GSD type IXb" EXACT [] synonym: "PHKB-related condition" BROAD [] synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" EXACT [] xref: MESH:C563008 xref: MIM:261750 xref: MONDO:0009868 xref: ORDO:79240 is_a: DOID:0050594 ! glycogen storage disease IX [Term] id: DOID:0111042 name: glycogen storage disease IXA def: "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)" [PMID:2303074 "DO", PMID:7711737 "DO"] synonym: "glycogenosis type 9A" EXACT [] synonym: "glycogenosis type IXa" EXACT [] synonym: "glycogen storage disease IXa1" NARROW [] synonym: "glycogen storage disease IXa2" NARROW [] synonym: "glycogen storage disease type 9A" EXACT [] synonym: "glycogen storage disease type IXa" EXACT [] synonym: "glycogen storage disease type IXA1" NARROW [] synonym: "glycogen storage disease type IXA2" NARROW [] synonym: "glycogen storage disease VIII (formerly)" RELATED [] synonym: "GSD8 (formerly)" RELATED [] synonym: "GSD9A" EXACT [] synonym: "GSD9A1" NARROW [] synonym: "GSD9A2" NARROW [] synonym: "GSD IXA2" NARROW [] synonym: "GSD type 9A" EXACT [] synonym: "GSD type IXa" EXACT [] synonym: "GSD VIII (formerly)" RELATED [] synonym: "liver glycogenosis, X-linked, type I" EXACT [] synonym: "liver glycogenosis, X-linked, type II" EXACT [] synonym: "PHKA2-related condition" BROAD [] synonym: "XLG1" EXACT [] synonym: "XLG2" EXACT [] xref: MESH:C564421 xref: MESH:C567579 xref: MIM:306000 xref: MONDO:0010598 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111043 name: glycogen storage disease IXC def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (DO)" [PMID:6962066 "DO", PMID:9384616 "DO"] synonym: "glycogenosis type 9C" EXACT [] synonym: "glycogenosis type IXc" EXACT [] synonym: "glycogen storage disease type 9C" EXACT [] synonym: "glycogen storage disease type IXc" EXACT [] synonym: "GSD9C" EXACT [] synonym: "GSD IXC" EXACT [] synonym: "GSD type 9C" EXACT [] synonym: "GSD type IXc" EXACT [] xref: MESH:C567809 xref: MIM:613027 xref: MONDO:0013091 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111044 name: gray platelet syndrome def: "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. (DO)" [PMID:17768118 "DO", PMID:21765411 "DO", PMID:21765412 "DO", PMID:21765413 "DO"] synonym: "BDPLT4" EXACT [] synonym: "GPS" EXACT [] synonym: "gray platelet syndromes" EXACT [] synonym: "grey platelet syndrome" EXACT [] synonym: "grey platelet syndromes" EXACT [] synonym: "NBEAL2-related condition" BROAD [] synonym: "platelet alpha-granule deficiency" EXACT [] synonym: "platelet-type bleeding disorder 4" EXACT [] xref: GARD:2562 xref: MESH:D055652 xref: MIM:139090 xref: MONDO:0007686 xref: ORDO:721 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:225 ! syndrome is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111045 name: platelet-type bleeding disorder 9 alt_id: MIM:614200 def: "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. (DO)" [PMID:2933589 "DO", PMID:2943331 "DO"] synonym: "BDPLT9" EXACT [] synonym: "COLLAGEN PLATELET RECEPTOR DEFICIENCY" EXACT [] synonym: "Glycoprotein IA Deficiency" EXACT [] synonym: "GP IA Deficiency" EXACT [] xref: ICD10CM:D69.8 xref: MESH:C566000 xref: ORDO:98886 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111046 name: platelet-type bleeding disorder 10 alt_id: MIM:608404 def: "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. (DO)" [PMID:11499670 "DO", PMID:7506948 "DO", PMID:7686693 "DO"] synonym: "BDPLT10" EXACT [] synonym: "CD36 Deficiency" EXACT [] synonym: "platelet glycoprotein IV deficiency" EXACT [] xref: MESH:C564245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111047 name: platelet-type bleeding disorder 14 alt_id: MIM:614158 def: "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. (DO)" [PMID:6268139 "DO"] synonym: "BDPLT14" EXACT [] synonym: "thromboxane synthase deficiency" EXACT [] xref: MESH:C562866 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111048 name: platelet-type bleeding disorder 19 def: "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. (DO)" [PMID:25061177 "DO"] synonym: "BDPLT19" EXACT [] synonym: "PRKACG-related condition" BROAD [] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [] xref: ICD10CM:D69.4 xref: MIM:616176 xref: MONDO:0014518 xref: ORDO:438207 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:0111049 name: platelet-type bleeding disorder 17 alt_id: MIM:187900 def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)" [PMID:24325358 "DO", PMID:5681484 "DO"] synonym: "BDPLT17" EXACT [] synonym: "GFI1B-RELATED CONDITION" EXACT [] synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [] xref: MESH:C566060 xref: NCI:C142084 xref: NCI:C84741 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2219 ! Glanzmann's thrombasthenia is_a: DOID:9002557 ! Inherited Blood Coagulation Disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0111050 name: Quebec platelet disorder def: "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. (DO)" [PMID:18988861 "DO", PMID:20007542 "DO"] synonym: "BDPLT5" EXACT [] synonym: "Bleeding Disorder, Platelet-Type, 5" EXACT [] synonym: "Factor V Quebec" EXACT [] synonym: "PLAU-related disorder" BROAD [] synonym: "QPD" EXACT [] xref: GARD:8345 xref: MESH:C536260 xref: MIM:601709 xref: MONDO:0011136 xref: ORDO:220436 is_a: DOID:2216 ! factor V deficiency is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111051 name: platelet-type bleeding disorder 18 alt_id: RDO:9001378 def: "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)" [PMID:24958846 "DO"] synonym: "BDPLT18" EXACT [] synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [] synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [] synonym: "RASGRP2-RELATED CONDITION" EXACT [] xref: MIM:615888 xref: ORDO:420566 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:0111052 name: Scott syndrome alt_id: MIM:262890 alt_id: OMIA:001353 def: "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. (DO)" [PMID:12669124 "DO", PMID:21107324 "DO"] synonym: "ANO6-RELATED CONDITION" EXACT [] synonym: "BDPLT7" EXACT [] synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [] synonym: "familial prothrombin consumption inhibitor" EXACT [] synonym: "familial prothrombin conversion defect" EXACT [] synonym: "platelet-type bleeding disorder 7" EXACT [] synonym: "prothrombin consumption deficiency" EXACT [] synonym: "SCTS" EXACT [] xref: EFO:0000204 xref: GARD:4777 xref: MESH:C563120 xref: MONDO:0009885 xref: ORDO:806 is_a: DOID:225 ! syndrome is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111053 name: platelet-type bleeding disorder 15 def: "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)" [PMID:23434115 "DO"] synonym: "ACTN1-related condition" BROAD [] synonym: "BDPLT15" EXACT [] synonym: "Bleeding disorder platelet type macrothrombocytopenia" EXACT [] synonym: "MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED" EXACT [] xref: MIM:615193 xref: MONDO:0014078 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111054 name: von Willebrand's disease 3 alt_id: MIM:277480 alt_id: OMIA:001058 def: "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. (DO)" [PMID:19630771 "DO", PMID:3258663 "DO"] synonym: "Type 3 Von Willebrand's Disease" EXACT [] synonym: "Type 3 VWD" EXACT [] synonym: "Von Willebrand disease III" EXACT [] synonym: "von Willebrand disease, severe form" EXACT [] synonym: "von Willebrand disease type 3" EXACT [] synonym: "von Willebrand disease type III" EXACT [] synonym: "VWD3" EXACT [] xref: ICD10CM:D68.03 xref: MESH:D056729 xref: NCI:C85213 xref: ORDO:166096 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0111055 name: platelet-type bleeding disorder 20 def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. (DO)" [PMID:26280575 "DO", PMID:26769223 "DO"] synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [] synonym: "BDPLT20" EXACT [] synonym: "SLFN14-RELATED CONDITION" EXACT [] xref: MIM:616913 xref: ORDO:466806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111056 name: platelet-type bleeding disorder 3 alt_id: MIM:177820 def: "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. (DO)" [PMID:2052556 "DO", PMID:8486780 "DO"] synonym: "BDPLT3" EXACT [] synonym: "pseudo-Von Willebrand disease" EXACT [] synonym: "PT-VWD" EXACT [] synonym: "Von Willebrand disease, platelet type" EXACT [] synonym: "VWDP" EXACT [] xref: MESH:C536458 xref: ORDO:52530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12531 ! von Willebrand's disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111057 name: platelet-type bleeding disorder 11 def: "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (DO)" [PMID:19549989 "DO", PMID:19552682 "DO"] synonym: "BDPLT11" EXACT [] synonym: "GLYCOPROTEIN VI DEFICIENCY" EXACT [] synonym: "GP6-RELATED CONDITION" EXACT [] synonym: "GP VI DEFICIENCY" EXACT [] xref: MIM:614201 xref: ORDO:98885 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:0111058 name: platelet-type bleeding disorder 12 alt_id: MIM:605735 def: "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. (DO)" [PMID:8562397 "DO"] synonym: "BDPLT12" EXACT [] synonym: "PGHS1 deficiency" EXACT [] synonym: "platelet COX1 deficiency" EXACT [] synonym: "platelet cyclooxygenase 1 deficiency" EXACT [] synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" EXACT [] xref: MESH:C567786 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111059 name: Bernard-Soulier syndrome type A2 def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. (DO)" [PMID:11222377 "DO", PMID:1730088 "DO"] synonym: "Bernard-Soulier Syndrome, Type A2, Autosomal Dominant" EXACT [] synonym: "BSSA2" EXACT [] xref: MIM:153670 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:0111060 name: Ambras type hypertrichosis universalis congenita def: "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. (DO)" [PMID:18328202 "DO", PMID:8275569 "DO", PMID:9712536 "DO"] synonym: "Ambras syndrome" EXACT [] synonym: "congenital generalized hypertrichosis" BROAD [] synonym: "HTC1" EXACT [] xref: GARD:8206 xref: ICD10CM:Q84.2 xref: MESH:C536605 xref: MIM:145701 xref: MONDO:0007787 xref: ORDO:1023 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:0111061 name: familial hypobetalipoproteinemia 2 alt_id: MIM:605019 alt_id: RDO:0014290 def: "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)" [PMID:20942659 "DO"] synonym: "ANGPTL3-RELATED CONDITION" EXACT [] synonym: "Fhbl2" EXACT [] synonym: "Hypobetalipoproteinemia, familial, 2" EXACT [] synonym: "HYPOLIPIDEMIA, FAMILIAL, COMBINED" EXACT [] xref: MESH:C565732 is_a: DOID:1390 ! hypobetalipoproteinemia [Term] id: DOID:0111062 name: familial hypobetalipoproteinemia 1 alt_id: DOID:9002123 def: "A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)" [PMID:3399894 "DO"] synonym: "Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type" EXACT [] synonym: "Acanthocytosis with Hypobetalipoproteinemia" EXACT [] synonym: "APOB-RELATED CONDITION" BROAD [] synonym: "APOB-RELATED DISORDER" BROAD [] synonym: "Apolipoprotein B Deficiencies" EXACT [] synonym: "Apolipoprotein B Deficiency" EXACT [] synonym: "Apolipoprotein B Deficiency Disease" EXACT [] synonym: "Familial Hypobetalipoproteinemia, Apolipoprotein B" EXACT [] synonym: "FHBL1" EXACT [] synonym: "Hypobetalipoproteinemia, Familial, Apo B" EXACT [] synonym: "hypobetalipoproteinemia, familial, associated with APOB32" EXACT [] synonym: "Hypobetalipoproteinemia, Normotriglyceridemic" EXACT [] xref: EFO:1001789 xref: MESH:C566267 xref: MESH:D052476 xref: MIM:615558 xref: MONDO:0014252 is_a: DOID:1390 ! hypobetalipoproteinemia [Term] id: DOID:0111063 name: hyperphosphatemic familial tumoral calcinosis def: "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. (DO)" [https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO", PMID:15133511 "DO", PMID:15590700 "DO", PMID:16151858 "DO", PMID:17710231 "DO"] synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [] synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [] synonym: "familial Teutschlaender disease" EXACT [] synonym: "familial tumoral calcinosis" BROAD [] synonym: "HFTC" EXACT [] synonym: "HHS" EXACT [] synonym: "hypercalcemic tumoral calcinosis" EXACT [] synonym: "hyperostosis-hyperphosphatemia syndrome" EXACT [] synonym: "hyperostosis with hyperphosphatemia" EXACT [] synonym: "hyperphosphatemia-hyperostosis" EXACT [] synonym: "Hyperphosphatemia Tumoral Calcinosis" EXACT [] synonym: "hyperphosphatemic tumoral calcinosis" EXACT [] synonym: "Lipocalcinogranulomatosis" EXACT [] synonym: "Morbus Teutschlaender" EXACT [] synonym: "PHPTC" EXACT [] synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT [] synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [] xref: EFO:0009385 xref: GARD:10879 xref: ICD10CM:M11.2 xref: MESH:C538381 xref: MESH:C566870 xref: NCI:C131851 xref: ORDO:306661 is_a: DOID:0050459 ! hyperphosphatemia is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:182 ! calcinosis is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111064 name: autosomal recessive distal hereditary motor neuronopathy 1 def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)" [PMID:11528396 "DO", PMID:2801766 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT [] synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [] synonym: "DHMN6" EXACT [] synonym: "diaphragmatic spinal muscular atrophy" EXACT [] synonym: "distal hereditary motor neuronopathy, autosomal recessive 1" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VI" EXACT [] synonym: "distal hereditary motor neuronopathy type VI" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 1" EXACT [] synonym: "distal hereditary motor neuropathy type 6" EXACT [] synonym: "distal-HMN type 6" EXACT [] synonym: "distal spinal muscular atrophy 1" EXACT [] synonym: "distal spinal muscular atrophy type 1" EXACT [] synonym: "DSMA1" EXACT [] synonym: "HMN6" EXACT [] synonym: "HMNR1" EXACT [] synonym: "HMN VI" EXACT [] synonym: "HMNVI" EXACT [] synonym: "IGHMBP2-related condition" BROAD [] synonym: "severe infantile axonal neuronopathy with respiratory failure" EXACT [] synonym: "severe infantile axonal neuropathy with respiratory failure" EXACT [] synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [] synonym: "SIANRF" EXACT [] synonym: "SMARD1" EXACT [] synonym: "spinal muscular atrophy with respiratory distress" EXACT [] synonym: "Spinal muscular atrophy with respiratory distress type 1" NARROW [] synonym: "Spinal muscular atrophy with respiratory distress type 2" NARROW [] xref: EFO:0003107 xref: MESH:C536880 xref: MIM:604320 xref: MONDO:0018450 xref: ORDO:98920 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy is_a: DOID:12716 ! newborn respiratory distress syndrome [Term] id: DOID:0111065 name: autosomal recessive distal hereditary motor neuronopathy 2 alt_id: MIM:605726 def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. (DO)" [PMID:26078401 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 2" EXACT [] synonym: "dHMNJ" EXACT [] synonym: "distal hereditary motor neuronopathy, Jerash type" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 2" EXACT [] synonym: "distal hereditary motor neuropathy, Jerash type" EXACT [] synonym: "distal motor neuropathy, Jerash type" EXACT [] synonym: "distal spinal muscular atrophy 2" EXACT [] synonym: "DSMA2" EXACT [] synonym: "hereditary motor neuropathy, Jerash type" EXACT [] synonym: "HMNJ" EXACT [] synonym: "HMNR2" EXACT [] synonym: "spinal muscular atrophy, Jerash type" EXACT [] xref: GARD:10133 xref: MESH:C535715 xref: ORDO:139552 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111066 name: congenital bile acid synthesis defect 5 def: "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. (DO)" [PMID:25168382 "DO"] synonym: "ABCD3-RELATED CONDITION" EXACT [] synonym: "CBAS5" EXACT [] xref: MIM:616278 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111067 name: congenital bile acid synthesis defect 6 def: "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. (DO)" [PMID:27647924 "DO", PMID:27884763 "DO"] synonym: "ACOX2-related condition" BROAD [] synonym: "CBAS6" EXACT [] xref: MIM:617308 xref: MONDO:0015015 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111068 name: congenital bile acid synthesis defect 4 alt_id: MIM:214950 def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. (DO)" [PMID:12512044 "DO", PMID:5064535 "DO"] synonym: "AMACR-RELATED CONDITION" BROAD [] synonym: "Cbas4" EXACT [] synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [] synonym: "Trihydroxycoprostanic acid in bile" EXACT [] xref: GARD:10046 xref: MESH:C535444 xref: ORDO:79095 is_a: DOID:0050674 ! congenital bile acid synthesis defect is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0111069 name: congenital bile acid synthesis defect 2 alt_id: MIM:235555 def: "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)" [ORDO:79303 "DO", PMID:12970144 "DO", PMID:3198770 "DO"] synonym: "AKR1D1-RELATED CONDITION" EXACT [] synonym: "Bile acid synthesis defect, congenital, 2" EXACT [] synonym: "CBAS2" EXACT [] synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [] synonym: "congenital bile acid synthesis defect type 2 (CBAS2)" EXACT [] xref: GARD:10045 xref: MESH:C535443 xref: ORDO:79303 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111070 name: congenital bile acid synthesis defect 3 alt_id: MIM:613812 def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. (DO)" [PMID:9802883 "DO"] synonym: "CBAS3" EXACT [] synonym: "Congenital Bile Acid Synthesis Defect Type 3 (CBAS3)" EXACT [] synonym: "CYP7B1-RELATED CONDITION" BROAD [] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [] xref: MESH:C566340 xref: ORDO:79302 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111071 name: congenital bile acid synthesis defect 1 alt_id: MIM:607765 def: "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. (DO)" [PMID:11067870 "DO", PMID:3470305 "DO"] synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT [] synonym: "CBAS1" EXACT [] synonym: "Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)" EXACT [] synonym: "deficiency of 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase" EXACT [] synonym: "HSD3B7-RELATED CONDITION" EXACT [] xref: GARD:9813 xref: MESH:C535442 xref: ORDO:79301 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111072 name: myostatin-related muscle hypertrophy alt_id: MIM:614160 def: "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. (DO)" [PMID:15215484 "DO"] synonym: "MSLHP" EXACT [] synonym: "MSTN-RELATED CONDITION" EXACT [] synonym: "muscle hypertrophy syndrome" EXACT [] xref: GARD:10238 xref: MESH:C536106 xref: ORDO:275534 is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:0111073 name: progressive familial heart block def: "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. (DO)" [PMID:897853 "DO"] synonym: "familial Lenegre disease" EXACT [] synonym: "familial Lev disease" EXACT [] synonym: "familial Lev-Lenegre disease" EXACT [] synonym: "familial PCCD" EXACT [] synonym: "hereditary bundle branch defect" EXACT [] synonym: "hereditary bundle branch system defect" EXACT [] synonym: "Lenegre Lev disease" EXACT [] synonym: "PFHB" EXACT [] synonym: "progressive cardiac conduction defect" EXACT [] xref: MESH:C566873 xref: MIM:PS113900 xref: ORDO:871 is_a: DOID:10273 ! heart conduction disease is_a: DOID:990 ! congenital heart block [Term] id: DOID:0111074 name: progressive familial heart block type IA def: "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. (DO)" [PMID:10471492 "DO", PMID:897853 "DO"] synonym: "CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE" NARROW [] synonym: "HBBD HEART BLOCK, NONPROGRESSIVE" NARROW [] synonym: "hereditary bundle branch system defect" NARROW [] synonym: "PCCD" EXACT [] synonym: "PFHB1A" EXACT [] synonym: "PFHBIA" EXACT [] xref: MIM:113900 xref: NCI:C126651 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9003912 ! Bundle-Branch Block is_a: DOID:9009094 ! Progressive Familial Heart Block Type I [Term] id: DOID:0111075 name: progressive familial heart block type II def: "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. (DO)" [PMID:16086176 "DO", PMID:897853 "DO"] synonym: "PFHB2" EXACT [] synonym: "PFHBII" EXACT [] xref: MESH:C564202 xref: MIM:140400 xref: MONDO:0007701 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111073 ! progressive familial heart block [Term] id: DOID:0111076 name: progressive familial heart block type IB alt_id: MIM:604559 def: "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)" [PMID:19726882 "DO", PMID:897853 "DO"] synonym: "PFHB1B" EXACT [] synonym: "PFHBIB" EXACT [] synonym: "progressive familial heart block type 1B" EXACT [] synonym: "TRPM4-RELATED CONDITION" BROAD [] synonym: "TRPM4-RELATED DISORDER" BROAD [] xref: MESH:C567037 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009094 ! Progressive Familial Heart Block Type I [Term] id: DOID:0111077 name: congenital nonspherocytic hemolytic anemia 2 def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)" [PMID:1896471 "DO", PMID:728372 "DO", PMID:7706479 "DO"] synonym: "CNSHA2" EXACT [] synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [] synonym: "PK Deficiency" EXACT [] synonym: "PKLR-RELATED CONDITION" BROAD [] synonym: "pyruvate kinase deficiency" EXACT [] synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [] synonym: "pyruvate kinase deficiency of red cells" EXACT [] synonym: "Red cell pyruvate kinase deficiency" EXACT [] xref: GARD:7514 xref: MESH:C564858 xref: MIM:266200 xref: MONDO:0009950 xref: NCI:C99037 xref: OMIA:000844 xref: ORDO:766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors [Term] id: DOID:0111078 name: tibial muscular dystrophy def: "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (DO)" [PMID:12145747 "DO", PMID:196233 "DO", PMID:8503797 "DO"] synonym: "distal titinopathy" EXACT [] synonym: "Finnish Markesbery muscular dystrophy" EXACT [] synonym: "Finnish tibial muscular dystrophy" EXACT [] synonym: "tardive tibial muscular dystrophy" EXACT [] synonym: "tibial muscular dystrophies" EXACT [] synonym: "TMD" EXACT [] synonym: "Udd distal myopathy" EXACT [] synonym: "Udd Markesbery muscular dystrophy" EXACT [] synonym: "Udd myopathy" EXACT [] synonym: "Udd type distal myopathy" EXACT [] xref: MIM:600334 xref: MONDO:0010870 xref: ORDO:609 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0111079 name: birdshot chorioretinopathy alt_id: MIM:605808 def: "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. (DO)" [PMID:11226280 "DO", PMID:16263368 "DO", PMID:18214792 "DO"] synonym: "birdshot chorioretinitis" EXACT [] synonym: "birdshot retinochoroiditis" EXACT [] synonym: "birdshot retinochoroidopathy" EXACT [] synonym: "BSCR" EXACT [] synonym: "vitiliginous choroiditis" EXACT [] xref: GARD:5926 xref: MESH:D000080365 xref: MONDO:0011599 xref: ORDO:179 is_a: DOID:8886 ! chorioretinitis is_a: DOID:9003271 ! White Dot Syndromes [Term] id: DOID:0111080 name: Fanconi anemia complementation group V def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. (DO)" [PMID:27500492 "DO"] synonym: "Fanconi anemia of complementation group V" EXACT [] synonym: "FANCV" EXACT [] synonym: "MAD2L2-RELATED CONDITION" EXACT [] xref: MIM:617243 xref: MONDO:0014985 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111081 name: Fanconi anemia complementation group T def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. (DO)" [PMID:26046368 "DO"] synonym: "Fanconi anemia of complementation group T" EXACT [] synonym: "FANCT" EXACT [] xref: MIM:616435 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111082 name: Fanconi anemia complementation group L def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)" [PMID:12973351 "DO", PMID:19405097 "DO"] synonym: "FANCL" EXACT [] synonym: "FANCL-RELATED CONDITION" EXACT [] xref: MIM:614083 xref: NCI:C164677 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111083 name: Fanconi anemia complementation group D2 def: "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. (DO)" [PMID:11239453 "DO", PMID:17436244 "DO"] synonym: "FA4" EXACT [] synonym: "FACD" EXACT [] synonym: "FAD2" EXACT [] synonym: "FANCD" EXACT [] synonym: "FANCD2" EXACT [] synonym: "Fanconi anemia, complementation group D" EXACT [] synonym: "Fanconi pancytopenia, type 4" EXACT [] xref: MIM:227646 xref: NCI:C125706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111084 name: Fanconi anemia complementation group E def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. (DO)" [PMID:11001585 "DO"] synonym: "FACE" EXACT [] synonym: "FANCE" EXACT [] synonym: "FANCE-RELATED CONDITION" EXACT [] xref: MIM:600901 xref: NCI:C125709 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111085 name: Fanconi anemia complementation group U def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)" [PMID:22232082 "DO"] synonym: "Fanconi anemia of complementation group U" EXACT [] synonym: "FANCU" EXACT [] xref: MIM:617247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111086 name: Fanconi anemia complementation group G def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. (DO)" [PMID:9806548 "DO"] synonym: "FANCG" EXACT [] synonym: "FANCG-RELATED DISORDER" EXACT [] xref: EFO:0009046 xref: MIM:614082 xref: NCI:C125708 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111087 name: Fanconi anemia complementation group C def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. (DO)" [PMID:1574115 "DO", PMID:9272737 "DO"] synonym: "FA3" EXACT [] synonym: "FAC" EXACT [] synonym: "FACC" EXACT [] synonym: "FANCC" EXACT [] synonym: "FANCC-related condition" BROAD [] synonym: "FANCONI ANEMIA, GROUP C" EXACT [] synonym: "FANCONI PANCYTOPENIA, TYPE 3" EXACT [] xref: MIM:227645 xref: MONDO:0009213 xref: NCI:C125704 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111088 name: Fanconi anemia complementation group F def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. (DO)" [PMID:10615118 "DO"] synonym: "FANCF" EXACT [] xref: EFO:0009045 xref: MIM:603467 xref: NCI:C125707 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111089 name: Fanconi anemia complementation group D1 alt_id: MIM:605724 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)" [PMID:12065746 "DO", PMID:14670928 "DO"] synonym: "FAD1" EXACT [] synonym: "FANCD1" EXACT [] xref: MESH:C563980 xref: NCI:C125705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111090 name: Fanconi anemia complementation group R def: "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. (DO)" [PMID:26681308 "DO"] synonym: "Fanconi anemia of complementation group R" EXACT [] synonym: "FANCR" EXACT [] xref: MIM:617244 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111091 name: Fanconi anemia complementation group I def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. (DO)" [PMID:17452773 "DO"] synonym: "FANCI" EXACT [] synonym: "FANCI-related disorder" EXACT [] xref: MESH:C563802 xref: MIM:609053 xref: MONDO:0012186 xref: NCI:C129026 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111092 name: Fanconi anemia complementation group P def: "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. (DO)" [PMID:21240275 "DO", PMID:21240277 "DO"] synonym: "FANCP" EXACT [] xref: MIM:613951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111093 name: Fanconi anemia complementation group Q def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [PMID:23623386 "DO"] synonym: "FANCQ" EXACT [] xref: MIM:615272 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111094 name: Fanconi anemia complementation group N def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. (DO)" [PMID:17200671 "DO", PMID:17200672 "DO"] synonym: "FANCN" EXACT [] xref: MESH:C563657 xref: MIM:610832 xref: MONDO:0012565 xref: NCI:C176894 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111095 name: Fanconi anemia complementation group A def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. (DO)" [PMID:10094191 "DO", PMID:9371798 "DO"] synonym: "FANCA" EXACT [] synonym: "FANCA-RELATED CONDITION" EXACT [] synonym: "FANCONI ANEMIA, GROUP A" EXACT [] xref: EFO:0009044 xref: MIM:227650 xref: MONDO:0009215 xref: NCI:C125702 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:0111096 name: Fanconi anemia complementation group O def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. (DO)" [PMID:20400963 "DO"] synonym: "FANCO" EXACT [] synonym: "RAD51C-RELATED CONDITION" BROAD [] xref: MIM:613390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111097 name: Fanconi anemia complementation group J alt_id: MIM:609054 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. (DO)" [PMID:16116424 "DO"] synonym: "BRIP1-RELATED CONDITION" BROAD [] synonym: "BRIP1-related disorder" NARROW [] synonym: "FANCJ" EXACT [] xref: MESH:C563801 xref: NCI:C129027 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111098 name: Fanconi anemia complementation group B alt_id: MIM:300514 def: "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. (DO)" [PMID:15502827 "DO"] synonym: "FA2" EXACT [] synonym: "FACB" EXACT [] synonym: "FANCB" EXACT [] synonym: "Fanconi pancytopenia type 2" EXACT [] xref: MESH:C564497 xref: NCI:C125703 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111099 name: maturity-onset diabetes of the young type 1 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. (DO)" [PMID:9294105 "DO"] synonym: "Diabetes Mellitus Type 2" EXACT [] synonym: "Mild Juvenile Diabetes Mellitus" EXACT [] synonym: "MODY1" EXACT [] synonym: "MODY, Type 1" EXACT [] xref: MESH:C565101 xref: MIM:125850 xref: MONDO:0007452 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111100 name: maturity-onset diabetes of the young type 2 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. (DO)" [PMID:1570017 "DO"] synonym: "maturity-onset diabetes of the young, type II" EXACT [] synonym: "MODY2" EXACT [] synonym: "MODY, Glucokinase-Related" EXACT [] synonym: "MODY, type 2" EXACT [] synonym: "MODY, type II" EXACT [] xref: MESH:C564219 xref: MIM:125851 xref: MONDO:0007453 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111101 name: renal cysts and diabetes syndrome def: "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. (DO)" [PMID:11085914 "DO", PMID:15930087 "DO"] synonym: "ADTKD3" EXACT [] synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [] synonym: "atypical FJHN" EXACT [] synonym: "CAKUT WITH DIABETES" EXACT [] synonym: "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES" EXACT [] synonym: "familial hypoplastic glomerulocystic kidney" EXACT [] synonym: "glomerulocystic kidney disease, hypoplastic type" EXACT [] synonym: "maturity-onset diabetes of the young type 5" EXACT [] synonym: "MODY5" EXACT [] synonym: "RCAD" EXACT [] synonym: "tubulointerstitial kidney disease, autosomal dominant 3" EXACT [] xref: MESH:C535520 xref: MIM:137920 xref: MONDO:0007669 xref: NCI:C123018 is_a: DOID:0050524 ! maturity-onset diabetes of the young is_a: DOID:0060062 ! autosomal dominant tubulointerstitial kidney disease is_a: DOID:2975 ! cystic kidney disease is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0111102 name: maturity-onset diabetes of the young type 3 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. (DO)" [PMID:11575290 "DO", PMID:7795649 "DO"] synonym: "MODY3" EXACT [] synonym: "MODY, Type 3" EXACT [] xref: MESH:C563933 xref: MIM:600496 xref: MONDO:0010894 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111103 name: maturity-onset diabetes of the young type 4 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. (DO)" [PMID:9326926 "DO"] synonym: "familial monogenic diabetes" BROAD [] synonym: "maturity-onset diabetes of the young 4" EXACT [] synonym: "maturity-onset diabetes of the young, type IV" EXACT [] synonym: "MODY4" EXACT [] synonym: "MODY, type 4" EXACT [] synonym: "PDX1-related disorder" BROAD [] xref: MESH:C563451 xref: MIM:606392 xref: MONDO:0011667 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111104 name: maturity-onset diabetes of the young type 6 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. (DO)" [PMID:10545951 "DO"] synonym: "maturity-onset diabetes of the young, type VI" EXACT [] synonym: "MODY6" EXACT [] synonym: "MODY, type 6" EXACT [] synonym: "NEUROD1-related condition" BROAD [] xref: MESH:C565231 xref: MIM:606394 xref: MONDO:0011668 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111105 name: maturity-onset diabetes of the young type 8 def: "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. (DO)" [PMID:16369531 "DO"] synonym: "CEL-RELATED DISORDER" EXACT [] synonym: "diabetes and pancreatic exocrine" EXACT [] synonym: "diabetes and pancreatic exocrine dysfunction" EXACT [] synonym: "Diabetes-Pancreatic Exocrine Dysfunction Syndrome" EXACT [] synonym: "DPED" EXACT [] synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT [] synonym: "maturity-onset diabetes of the young, type VIII" EXACT [] synonym: "MODY8" EXACT [] synonym: "MODY type 8" EXACT [] xref: MESH:C565225 xref: MIM:609812 xref: MONDO:0012348 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111106 name: maturity-onset diabetes of the young type 7 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. (DO)" [PMID:15774581 "DO"] synonym: "KLF11-related condition" BROAD [] synonym: "MODY7" EXACT [] xref: MESH:C566466 xref: MIM:610508 xref: MONDO:0012513 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111107 name: maturity-onset diabetes of the young type 9 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. (DO)" [PMID:17426099 "DO"] synonym: "MODY9" EXACT [] xref: MESH:C567393 xref: MIM:612225 xref: MONDO:0012818 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111108 name: maturity-onset diabetes of the young type 10 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. (DO)" [PMID:18162506 "DO"] synonym: "MODY10" EXACT [] xref: MIM:613370 xref: MONDO:0013240 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111109 name: maturity-onset diabetes of the young type 11 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. (DO)" [PMID:19667185 "DO"] synonym: "BLK-related condition" EXACT [] synonym: "MODY11" EXACT [] xref: MIM:613375 xref: MONDO:0013242 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111110 name: maturity-onset diabetes of the young type 13 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. (DO)" [PMID:15784703 "DO"] synonym: "MODY13" EXACT [] synonym: "MODY type 13" EXACT [] xref: MIM:616329 xref: MONDO:0014589 is_a: DOID:0050524 ! maturity-onset diabetes of the young created_by: rgd creation_date: 2015-05-12T00:00:00Z [Term] id: DOID:0111111 name: maturity-onset diabetes of the young type 14 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. (DO)" [PMID:26073777 "DO"] synonym: "APPL1-related condition" BROAD [] synonym: "maturity-onset diabetes of the young-14" EXACT [] synonym: "MODY14" EXACT [] xref: MIM:616511 xref: MONDO:0014674 is_a: DOID:0050524 ! maturity-onset diabetes of the young created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:0111112 name: nephronophthisis 1 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)" [PMID:9326933 "DO", PMID:9361039 "DO"] synonym: "juvenile nephronophthisis" EXACT [] synonym: "juvenile nephronophthisis 1" EXACT [] synonym: "Nephronophthisis, Familial Juvenile" EXACT [] synonym: "NPH1" EXACT [] synonym: "NPHP1" EXACT [] synonym: "type 1 nephronophthisis" EXACT [] xref: MESH:C537699 xref: MIM:256100 xref: MONDO:0009728 xref: NCI:C74998 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111113 name: nephronophthisis 2 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. (DO)" [PMID:12872123 "DO"] synonym: "infantile nephronophthisis" EXACT [] synonym: "infantile nephronophthisis 2" EXACT [] synonym: "INVS-related condition" BROAD [] synonym: "NPH2" EXACT [] synonym: "NPHP2" EXACT [] xref: MESH:C566582 xref: MIM:602088 xref: MONDO:0011190 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111114 name: nephronophthisis 3 alt_id: MIM:604387 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. (DO)" [PMID:12872122 "DO"] synonym: "adolescent nephronophthisis" EXACT [] synonym: "NPH3" EXACT [] synonym: "NPHP3" EXACT [] xref: MESH:C565780 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111115 name: nephronophthisis 4 def: "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. (DO)" [PMID:12244321 "DO"] synonym: "juvenile nephronophthisis 4" EXACT [] synonym: "NPHP4" EXACT [] synonym: "NPHP4-RELATED CONDITION" BROAD [] xref: MESH:C564640 xref: MIM:606966 xref: MONDO:0011752 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111116 name: nephronophthisis 7 alt_id: MIM:611498 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. (DO)" [PMID:17618285 "DO"] synonym: "GLIS2-RELATED CONDITION" BROAD [] synonym: "NPHP7" EXACT [] xref: MESH:C566930 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111117 name: nephronophthisis-like nephropathy 1 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. (DO)" [PMID:20179356 "DO"] synonym: "nephronophthisis-like nephropathy" BROAD [] synonym: "NPHPL1" EXACT [] synonym: "XPNPEP3-RELATED CONDITION" EXACT [] xref: MIM:613159 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111118 name: nephronophthisis 11 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. (DO)" [PMID:19508969 "DO"] synonym: "NPHP11" EXACT [] xref: MIM:613550 xref: MONDO:0013302 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111119 name: nephronophthisis 12 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)" [PMID:21258341 "DO"] synonym: "JBTS11" NARROW [] synonym: "JOUBERT SYNDROME 11" NARROW [] synonym: "NPHP12" EXACT [] synonym: "TTC21B-RELATED DISORDER" BROAD [] xref: MIM:613820 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111120 name: nephronophthisis 9 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. (DO)" [PMID:18199800 "DO"] synonym: "NPHP9" EXACT [] xref: MIM:613824 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111121 name: nephronophthisis 13 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [PMID:22019273 "DO"] synonym: "NPHP13" EXACT [] xref: MIM:614377 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111122 name: nephronophthisis 14 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. (DO)" [PMID:22863007 "DO"] synonym: "JBTS19" RELATED [] synonym: "JOUBERT SYNDROME 19" RELATED [] synonym: "NPHP14" EXACT [] synonym: "ZNF423-RELATED CONDITION" BROAD [] xref: MIM:614844 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111123 name: nephronophthisis 15 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. (DO)" [PMID:22863007 "DO"] synonym: "CEP164-RELATED CONDITION" EXACT [] synonym: "NPHP15" EXACT [] xref: MIM:614845 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111124 name: nephronophthisis 16 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. (DO)" [PMID:23793029 "DO"] synonym: "ANKS6-RELATED CONDITION" EXACT [] synonym: "NPHP16" EXACT [] xref: MIM:615382 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111125 name: nephronophthisis 18 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. (DO)" [PMID:24882706 "DO"] synonym: "CEP83-RELATED CONDITION" EXACT [] synonym: "NPHP18" EXACT [] xref: MIM:615862 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111126 name: nephronophthisis 19 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. (DO)" [PMID:25557784 "DO"] synonym: "NPHP19" EXACT [] xref: MIM:616217 xref: MONDO:0014537 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111127 name: nephronophthisis 20 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. (DO)" [PMID:28089251 "DO"] synonym: "MAPKBP1-RELATED CONDITION" EXACT [] synonym: "NPHP20" EXACT [] xref: MIM:617271 xref: MONDO:0014997 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111128 name: focal segmental glomerulosclerosis 1 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. (DO)" [PMID:1429048 "DO"] synonym: "ACTN4-related condition" BROAD [] synonym: "focal sclerosis with hyalinosis" EXACT [] synonym: "FSGS1" EXACT [] synonym: "segmental glomerulosclerosis" RELATED [] xref: MESH:C538457 xref: MIM:603278 xref: MONDO:0011303 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111129 name: focal segmental glomerulosclerosis 2 alt_id: MIM:603965 def: "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. (DO)" [PMID:15924139 "DO"] synonym: "FSGS2" EXACT [] synonym: "TRPC6-RELATED CONDITION" EXACT [] xref: MESH:C565831 xref: NCI:C205635 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111130 name: focal segmental glomerulosclerosis 5 alt_id: MIM:613237 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. (DO)" [PMID:20023659 "DO"] synonym: "FSGS5" EXACT [] synonym: "INF2-RELATED CONDITION" BROAD [] xref: MESH:C567687 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111131 name: focal segmental glomerulosclerosis 6 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. (DO)" [PMID:21756023 "DO"] synonym: "FSGS6" EXACT [] synonym: "MYO1E-RELATED CONDITION" EXACT [] xref: MIM:614131 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111132 name: focal segmental glomerulosclerosis 7 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. (DO)" [PMID:24676634 "DO"] synonym: "FSGS7" EXACT [] synonym: "PAX2-RELATED CONDITION" BROAD [] synonym: "PAX2-RELATED DISORDER" BROAD [] xref: MIM:616002 xref: NCI:C202604 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0111133 name: focal segmental glomerulosclerosis 8 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. (DO)" [PMID:24676636 "DO"] synonym: "ANLN-RELATED CONDITION" EXACT [] synonym: "FSGS8" EXACT [] xref: ICD10CM:N04.1 xref: MIM:616032 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0111134 name: focal segmental glomerulosclerosis 9 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. (DO)" [PMID:25557779 "DO"] synonym: "CRB2-RELATED CONDITION" BROAD [] synonym: "FSGS9" EXACT [] xref: MIM:616220 xref: MONDO:0014539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0111135 name: congenital generalized lipodystrophy type 1 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. (DO)" [PMID:11967537 "DO"] synonym: "AGPAT2-related Brunzell syndrome" EXACT [] synonym: "Berardinelli Seip congenital lipodystrophy type 1" EXACT [] synonym: "BSCL1" EXACT [] synonym: "CGL1" EXACT [] xref: GARD:84 xref: MIM:608594 xref: MONDO:0012071 is_a: DOID:0050585 ! congenital generalized lipodystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0111136 name: congenital generalized lipodystrophy type 2 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. (DO)" [PMID:11479539 "DO"] synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [] synonym: "Berardinelli-Seip syndrome" EXACT [] synonym: "Berardinelli-Seip syndrome type 2" EXACT [] synonym: "Brunzell syndrome BSCL2-related" EXACT [] synonym: "CGL2" EXACT [] synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [] xref: GARD:10212 xref: MIM:269700 is_a: DOID:0050585 ! congenital generalized lipodystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0111137 name: congenital generalized lipodystrophy type 3 alt_id: MIM:612526 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. (DO)" [PMID:18237401 "DO"] synonym: "Berardinelli-Seip Congenital Lipodystrophy, Type 3" EXACT [] synonym: "BSCL3" EXACT [] synonym: "CGL3" EXACT [] xref: ICD10CM:E88.1 xref: MESH:C567282 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111138 name: congenital generalized lipodystrophy type 4 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. (DO)" [PMID:19726876 "DO"] synonym: "Berardinelli-Seip congenital lipodystrophy type 4, with muscular dystrophy" EXACT [] synonym: "BSCL4" EXACT [] synonym: "CAVIN1-related condition" BROAD [] synonym: "CGL4" EXACT [] synonym: "GCL4" EXACT [] synonym: "generalised congenital lipodystrophy type 4" EXACT [] synonym: "generalised congenital lipodystrophy with myopathy" EXACT [] synonym: "generalized congenital lipodystrophy with myopathy" EXACT [] xref: GARD:10937 xref: MESH:C567642 xref: MIM:613327 xref: MONDO:0013225 xref: ORDO:228429 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111139 name: mitochondrial complex III deficiency def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. (DO)" [PMID:25914718 "DO"] xref: GARD:8295 xref: MIM:PS124000 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111140 name: IGSF1 deficiency syndrome def: "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC3915563/ "DO", PMID:23143598 "DO"] synonym: "central hypothyroidism and testicular enlargement" EXACT [] synonym: "central hypothyroidism with testicular enlargement" EXACT [] synonym: "CHTE" EXACT [] synonym: "IGSF1-RELATED CONDITION" EXACT [] synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [] synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [] xref: MIM:300888 xref: ORDO:329235 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1459 ! hypothyroidism is_a: DOID:2519 ! testicular disease [Term] id: DOID:0111141 name: delayed sleep phase syndrome def: "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. (DO)" [PMID:12736803 "DO", PMID:17445238 "DO"] synonym: "CRY1-RELATED CONDITION" RELATED [] synonym: "delayed sleep phase disorder, susceptibility to" RELATED [] synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [] synonym: "DSPD" EXACT [] xref: MIM:614163 xref: MONDO:0800001 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0111142 name: oligomeganephronia def: "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. (DO)" [PMID:9794553 "DO"] synonym: "Oligomeganephronic renal hypoplasia" EXACT [] xref: GARD:4066 xref: ICD10CM:Q60.4 xref: ORDO:2260 is_a: DOID:0080204 ! renal hypoplasia [Term] id: DOID:0111143 name: mitochondrial complex V (ATP synthase) deficiency def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. (DO)" [PMID:21874297 "DO"] synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type" NARROW [] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type" NARROW [] xref: GARD:1459 xref: MIM:PS604273 xref: MONDO:0014471 xref: ORDO:254913 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111144 name: preterm premature rupture of the membranes alt_id: MIM:610504 def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. (DO)" [PMID:15715585 "DO", PMID:17400872 "DO"] synonym: "PPROM" EXACT [] synonym: "preterm premature rupture of fetal membranes" EXACT [] synonym: "preterm PROM (pregnancy)" EXACT [] synonym: "SERPINH1-RELATED CONDITION" BROAD [] xref: MESH:C563032 xref: MONDO:0012511 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9005304 ! Fetal Membranes, Premature Rupture [Term] id: DOID:0111145 name: ureteropelvic junction obstruction def: "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. (DO)" [PMID:28695117 "DO", PMID:28992643 "DO", PMID:29068584 "DO"] is_a: DOID:0080205 ! CAKUT is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:0111146 name: acquired von Willebrand syndrome def: "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. (DO)" [PMID:28028990 "DO"] synonym: "AVWS" EXACT [] xref: GARD:5573 xref: ICD10CM:D68.04 xref: MONDO:0020460 xref: ORDO:99147 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0111147 name: angioimmunoblastic T-cell lymphoma def: "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. (DO)" [https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/ "DO", https://www.lymphoma.org/aboutlymphoma/nhl/aitl/ "DO", PMID:22700722 "DO"] xref: EFO:0000255 xref: GARD:11973 xref: ICD10CM:C86.5 xref: ICDO:9705/3 xref: NCI:C7528 xref: ORDO:86886 is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0111148 name: isolated ectopia lentis def: "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. (DO)" [PMID:20141359 "DO"] synonym: "familial ectopia lentis" EXACT [] synonym: "IEL" EXACT [] xref: ICD10CM:Q12.1 xref: ICD9CM:743.37 xref: MESH:C536184 xref: NCI:C125484 xref: NCI:C34566 xref: ORDO:1885 is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:0111149 name: autosomal recessive isolated ectopia lentis 2 alt_id: MIM:225100 def: "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. (DO)" [PMID:19200529 "DO", PMID:20141359 "DO"] synonym: "ADAMTSL4-RELATED CONDITION" BROAD [] synonym: "ECTOL2" EXACT [] synonym: "Isolated Ectopia Lentis, Autosomal Recessive" EXACT [] xref: MESH:C567124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111148 ! isolated ectopia lentis [Term] id: DOID:0111150 name: autosomal dominant isolated ectopia lentis 1 def: "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)" [PMID:15054843 "DO"] synonym: "autosomal dominant isolated ectopia lentis" EXACT [] synonym: "ECTOL1" EXACT [] xref: MIM:129600 xref: MONDO:0007514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111148 ! isolated ectopia lentis [Term] id: DOID:0111151 name: Prinzmetal angina alt_id: MESH:C536421 def: "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. (DO)" [http://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk "DO", PMID:28613527 "DO"] synonym: "angina inversa" EXACT [] synonym: "Prinzmetal's angina" EXACT [] synonym: "Prinzmetal's variant angina" EXACT [] synonym: "Prinzmetals angina" EXACT [] synonym: "variant angina" EXACT [] synonym: "variant angina pectoris" EXACT [] xref: EFO:1000013 xref: MESH:D000788 is_a: DOID:11840 ! coronary artery vasospasm is_a: DOID:8805 ! intermediate coronary syndrome [Term] id: DOID:0111152 name: multicentric Castleman disease def: "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. (DO)" [http://www.bloodjournal.org/content/129/12/1646 "DO", https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease "DO"] synonym: "HHV-8-associated multicentric Castleman disease" EXACT [] synonym: "HHV8 Multicentric Castleman Disease" EXACT [] synonym: "Idiopathic multicentric Castleman's disease" EXACT [] synonym: "KSHV-Associated Multicentric Castleman Disease" EXACT [] synonym: "KSHV Muticentric Castleman Disease" EXACT [] synonym: "MCD" EXACT [] synonym: "Multi-centric Castleman's Disease" EXACT [] synonym: "Multicentric Castleman's disease" EXACT [] synonym: "multicentric giant lymph node hyperplasia" EXACT [] synonym: "Multicentric plasma cell variant of Castleman's disease" EXACT [] synonym: "plasmablastic multicentric Castleman disease" EXACT [] synonym: "PMCD" EXACT [] synonym: "Tafro syndrome" EXACT [] xref: GARD:9644 xref: MESH:C537372 xref: NCI:C27855 xref: ORDO:93686 is_a: DOID:0111157 ! Castleman disease [Term] id: DOID:0111153 name: congenital mirror movement disorder def: "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage "DO", https://www.ncbi.nlm.nih.gov/books/NBK279760/ "DO"] synonym: "familial congenital controlateral synkinesia" EXACT [] synonym: "familial congenital mirror movements" EXACT [] synonym: "hereditary congenital controlateral synkinesia" EXACT [] synonym: "hereditary congenital mirror movements" EXACT [] synonym: "isolated congenital controlateral synkinesia" EXACT [] synonym: "isolated congenital mirror movements" EXACT [] xref: GARD:12551 xref: MIM:PS157600 xref: ORDO:238722 is_a: DOID:0080015 ! physical disorder is_a: DOID:480 ! movement disease [Term] id: DOID:0111154 name: postural orthostatic tachycardia syndrome def: "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. (DO)" [https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome "DO", PMID:23580201 "DO"] synonym: "chronic orthostatic intolerance" EXACT [] synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [] synonym: "irritable heart" EXACT [] synonym: "orhtostatic intolerance" EXACT [] synonym: "orthostatic intolerance due to NET deficiency" EXACT [] synonym: "postural tachycardia syndrome" EXACT [] synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [] synonym: "POTS" EXACT [] synonym: "soldiers heart" EXACT [] xref: GARD:9597 xref: ICD10CM:I95.1 xref: MESH:D054972 xref: MONDO:0011479 xref: ORDO:443236 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:225 ! syndrome is_a: DOID:9004453 ! Orthostatic Intolerance [Term] id: DOID:0111155 name: autosomal recessive spinocerebellar ataxia 21 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. (DO)" [PMID:26581903 "DO"] synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT [] synonym: "CALFAN SYNDROME" EXACT [] synonym: "SCAR21" EXACT [] synonym: "SCYL1-RELATED CONDITION" EXACT [] xref: MIM:616719 xref: NCI:C159655 xref: ORDO:466794 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111156 name: spermatogenic failure 9 alt_id: DOID:0070175 def: "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. (DO)" [https://ghr.nlm.nih.gov/condition/globozoospermia "DO", PMID:10471512 "DO", PMID:21397064 "DO"] synonym: "complete globozoospermia" EXACT [] synonym: "SPGF9" EXACT [] synonym: "total globozoospermia" EXACT [] xref: MIM:613958 xref: MONDO:0013505 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia [Term] id: DOID:0111157 name: Castleman disease alt_id: RDO:0001923 def: "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. (DO)" [https://rarediseases.org/rare-diseases/castlemans-disease/ "DO"] synonym: "angiofollicular lymph hyperplasia" EXACT [] synonym: "Angiofollicular Lymph Hyperplasias" EXACT [] synonym: "Angiofollicular Lymph Node Hyperplasia" EXACT [] synonym: "Angiofollicular Lymphoid Hyperplasia" EXACT [] synonym: "Angiofollicular Lymphoid Hyperplasias" EXACT [] synonym: "Castleman's Disease" EXACT [] synonym: "Castleman's Tumor" EXACT [] synonym: "Castlemans Disease" EXACT [] synonym: "Castlemans Tumor" EXACT [] synonym: "Castleman Tumor" EXACT [] synonym: "giant lymph node hyperplasia" EXACT [] synonym: "GLNH" EXACT [] synonym: "lymphoid hamartoma" EXACT [] xref: EFO:1001332 xref: GARD:12656 xref: ICD10CM:D47.Z2 xref: MESH:D005871 xref: NCI:C3056 xref: ORDO:160 is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0111158 name: SADDAN def: "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (DO)" [https://ghr.nlm.nih.gov/condition/saddan "DO", PMID:10053006 "DO"] synonym: "SADDAN dysplasia" EXACT [] synonym: "SADDAN dysplasias" EXACT [] synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [] xref: GARD:9443 xref: MIM:616482 xref: ORDO:85165 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0111159 name: partial trisomy distal 4q def: "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. (DO)" [https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/ "DO", PMID:23449628 "DO"] synonym: "chromosome 4, partial trisomy 4q" EXACT [] synonym: "chromosome 4, partial trisomy distal 4q" EXACT [] synonym: "distal 4q trisomy" EXACT [] synonym: "Dup(4q) Syndrome, Partial" EXACT [] synonym: "Duplication 4q Syndrome, Partial" EXACT [] synonym: "partial trisomy 4q syndrome" EXACT [] xref: MESH:C537642 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:0111160 name: camptodactyly-tall stature-scoliosis-hearing loss syndrome alt_id: MIM:610474 def: "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (DO)" [https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome "DO", PMID:17033969 "DO"] synonym: "camptodactyly, tall stature, and hearing loss syndrome" EXACT [] synonym: "CATSHLS" EXACT [] synonym: "CATSHL syndrome" EXACT [] synonym: "FGFR3-RELATED CATSHL SYNDROME" EXACT [] xref: MESH:C537975 xref: ORDO:85164 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111161 name: Crouzon syndrome-acanthosis nigricans syndrome alt_id: MIM:612247 def: "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (DO)" [https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans "DO", PMID:2650599 "DO", PMID:7493034 "DO"] synonym: "CAN" EXACT [] synonym: "Crouzon-dermoskeletal syndrome" EXACT [] synonym: "Crouzonodermoskeletal Syndrome" EXACT [] synonym: "Crouzon syndrome with acanthosis nigricans" EXACT [] xref: MESH:C567382 xref: ORDO:93262 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:3138 ! acanthosis nigricans [Term] id: DOID:0111162 name: epidermal nevus def: "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. (DO)" [PMID:7526210 "DO"] synonym: "epidermal naevus" EXACT [] synonym: "nevus sebaceous" NARROW [] synonym: "NEVUS, WOOLLY HAIR" NARROW [] synonym: "nonepidermolytic keratinocytic nevus" EXACT [] xref: MESH:C580062 xref: MIM:162900 xref: MONDO:0008093 is_a: DOID:37 ! skin disease is_a: DOID:9002969 ! Nevus [Term] id: DOID:0111163 name: molybdenum cofactor deficiency type B def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. (DO)" [PMID:10053004 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [] synonym: "MOCODB" EXACT [] synonym: "MOCODB1" EXACT [] synonym: "MOCOD type B" EXACT [] synonym: "MOCS2-RELATED CONDITION" EXACT [] synonym: "molybdenum cofactor deficiency, complementation group B" EXACT [] synonym: "molybdenum cofactor deficiency type B1" EXACT [] xref: MESH:C565373 xref: MIM:252160 xref: MONDO:0009644 xref: ORDO:308393 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111164 name: molybdenum cofactor deficiency type A def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. (DO)" [PMID:9731530 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [] synonym: "MOCODA" EXACT [] synonym: "MOCOD type A" EXACT [] synonym: "MOCS1-related condition" BROAD [] synonym: "molybdenum cofactor deficiency, complementation group A" EXACT [] xref: MESH:C565372 xref: MIM:252150 xref: MONDO:0009643 xref: ORDO:308386 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111165 name: molybdenum cofactor deficiency def: "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. (DO)" [https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency "DO", https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency "DO", PMID:10746556 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [] synonym: "MOCOD" EXACT [] xref: GARD:3705 xref: MESH:C535811 xref: MIM:PS252150 xref: MONDO:0020480 xref: NCI:C129076 xref: ORDO:99732 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0111166 name: molybdenum cofactor deficiency type C def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. (DO)" [PMID:11095995 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [] synonym: "MOCODC" EXACT [] synonym: "MOCOD type C" EXACT [] synonym: "molybdenum cofactor deficiency complementation group C" EXACT [] synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" EXACT [] xref: MESH:C565374 xref: MIM:615501 xref: MONDO:0014212 xref: ORDO:308400 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111167 name: Dyggve-Melchior-Clausen disease alt_id: MIM:223800 alt_id: MIM:304950 def: "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (DO)" [PMID:12491225 "DO", PMID:21032395 "DO"] synonym: "DMC" EXACT [] synonym: "DMC disease" EXACT [] synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [] synonym: "Dyggve-Melchior-Clausen syndrome X linked" EXACT [] synonym: "DYM-RELATED CONDITION" BROAD [] synonym: "pseudo-Morquio disease type I" EXACT [] xref: GARD:6295 xref: MESH:C535726 xref: NCI:C124844 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111168 name: sepiapterin reductase deficiency def: "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. (DO)" [https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency "DO", PMID:11443547 "DO", PMID:15241655 "DO", PMID:22522443 "DO"] synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT [] synonym: "DRD due to SRD" EXACT [] synonym: "SPR deficiency" EXACT [] synonym: "SRD" EXACT [] xref: GARD:10365 xref: MESH:C562657 xref: MIM:612716 xref: MONDO:0012994 xref: ORDO:70594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0111169 name: subcortical band heterotopia def: "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. (DO)" [https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia "DO", PMID:24859200 "DO"] synonym: "band heterotopia" EXACT [] synonym: "band heterotopia of brain" EXACT [] synonym: "BH" EXACT [] synonym: "bilateral subcortical heterotopia" EXACT [] synonym: "DC syndrome" EXACT [] synonym: "double cortex" EXACT [] synonym: "double cortex syndrome" EXACT [] synonym: "EML1-related condition" BROAD [] synonym: "HeCo" EXACT [] synonym: "heterotopic cortex" EXACT [] synonym: "SBH" EXACT [] synonym: "subcortical laminar heterotopia" EXACT [] xref: MESH:C538475 xref: MESH:C563950 xref: MIM:600348 xref: MONDO:0020491 xref: NCI:C116933 xref: ORDO:99796 is_a: DOID:2490 ! congenital nervous system abnormality [Term] id: DOID:0111170 name: autosomal dominant sensory ataxia 1 def: "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. (DO)" [PMID:15286160 "DO"] synonym: "ADSA" EXACT [] synonym: "RNF170-RELATED CONDITION" BROAD [] synonym: "SNAX1" EXACT [] xref: MIM:608984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050951 ! hereditary ataxia [Term] id: DOID:0111180 name: French Canadian Leigh disease alt_id: MIM:220111 def: "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. (DO)" [PMID:12529507 "DO", PMID:21266382 "DO"] synonym: "Cox deficiency, French Canadian type" EXACT [] synonym: "COX deficiency, Saguenay Lac Saint Jean type" EXACT [] synonym: "cytochrome c oxidase deficiency, French Canadian type" EXACT [] synonym: "Leigh syndrome, French Canadian type" EXACT [] synonym: "Leigh syndrome, Saguenay Lac Saint Jean type" EXACT [] synonym: "LRPPRC-RELATED CONDITION" EXACT [] synonym: "LSFC" EXACT [] synonym: "MC4DN5" EXACT [] synonym: "mitochondrial complex IV deficiency nuclear type 5" EXACT [] synonym: "mitochondrial complex IV deficiency nuclear type 5 (French-Canadian)" EXACT [] xref: GARD:8370 xref: MESH:C537004 xref: ORDO:70472 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:0111181 name: familial hemiplegic migraine 1 def: "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1388/ "DO", PMID:8898206 "DO"] synonym: "familial hemiplegic migraine 1 with progressive cerebellar ataxia" EXACT [] synonym: "familial hemiplegic migraine1 with progressive cerebellar ataxia" EXACT [] synonym: "Familial Hemiplegic Migraine, Type 1" EXACT [] synonym: "FHM" EXACT [] synonym: "FHM1" EXACT [] synonym: "MHP1" EXACT [] synonym: "sporadic hemiplegic migraine" RELATED [] synonym: "sporadic hemiplegic migraine with progressive cerebellar ataxia" RELATED [] xref: GARD:2638 xref: MESH:C536890 xref: MIM:141500 xref: MONDO:0020756 xref: NCI:C189277 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111182 name: familial hemiplegic migraine 2 alt_id: MIM:602481 def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. (DO)" [PMID:12539047 "DO"] synonym: "Familial Hemiplegic Migraine, Type 2" EXACT [] synonym: "FHM2" EXACT [] synonym: "MHP2" EXACT [] synonym: "MHP2 MIGRAINE, FAMILIAL BASILAR" NARROW [] xref: GARD:10095 xref: MESH:C537246 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111183 name: familial hemiplegic migraine 3 def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. (DO)" [PMID:16054936 "DO"] synonym: "familial hemiplegic migraine, type 3" EXACT [] synonym: "FHM3" EXACT [] synonym: "MHP3" EXACT [] xref: GARD:10974 xref: MESH:C566500 xref: MIM:609634 xref: MONDO:0012320 xref: NCI:C205634 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111184 name: myopathy, lactic acidosis, and sideroblastic anemia 3 def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. (DO)" [PMID:25037980 "DO"] synonym: "mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [] synonym: "MLASA3" EXACT [] xref: MIM:500011 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111185 name: myopathy, lactic acidosis, and sideroblastic anemia 1 def: "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. (DO)" [PMID:15108122 "DO"] synonym: "MLASA1" EXACT [] synonym: "PUS1-RELATED CONDITION" EXACT [] xref: MIM:600462 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111186 name: myopathy, lactic acidosis, and sideroblastic anemia 2 def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. (DO)" [PMID:20598274 "DO", PMID:24344687 "DO"] synonym: "MLASA2" EXACT [] synonym: "YARS2-RELATED CONDITION" EXACT [] xref: MIM:613561 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111187 name: distal myopathy with anterior tibial onset def: "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (DO)" [PMID:11198284 "DO", PMID:9731526 "DO"] synonym: "distal muscular dystrophy with anterior tibial onset" EXACT [] synonym: "DMAT" EXACT [] xref: MESH:C564664 xref: MIM:606768 xref: MONDO:0011721 xref: ORDO:178400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111188 name: myofibrillar myopathy 9 alt_id: MESH:C564377 alt_id: MESH:C566343 def: "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)" [PMID:15802564 "DO", PMID:23486992 "DO"] synonym: "distal myopathy with early respiratory failure, autosomal dominant" EXACT [] synonym: "Edstrom Myopathy" EXACT [] synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [] synonym: "Hereditary Myopathy with Early Respiratory Failure" EXACT [] synonym: "HIBM-ERF" EXACT [] synonym: "HMERF" EXACT [] synonym: "MFM9" EXACT [] synonym: "MFM-titinopathy" EXACT [] synonym: "MPRM" EXACT [] synonym: "Myofibrillar Myopathy 9 with Early Respiratory Failure" EXACT [] synonym: "myofibrillar myopathy-titinopathy" EXACT [] synonym: "proximal myopathy with early respiratory muscle involvement" EXACT [] xref: EFO:0010828 xref: GARD:12591 xref: MIM:603689 xref: ORDO:178464 is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:11162 ! respiratory failure is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111189 name: distal myopathy 3 alt_id: MIM:610099 def: "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. (DO)" [PMID:12847162 "DO", PMID:15036327 "DO", PMID:34722876 "DO"] synonym: "distal muscular dystrophy 3" EXACT [] synonym: "distal myopathy type 3" EXACT [] synonym: "MPD3" EXACT [] xref: MESH:C566445 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111190 name: distal myopathy 4 def: "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. (DO)" [PMID:21620354 "DO"] synonym: "distal ABD-filaminopathy" EXACT [] synonym: "distal muscular dystrophy 4" EXACT [] synonym: "distal myopathy with posterior leg and anterior hand involvement" EXACT [] synonym: "MPD4" EXACT [] synonym: "WILLIAMS DISTAL MYOPATHY" EXACT [] xref: MIM:614065 is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111191 name: distal myopathy Tateyama type def: "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)" [PMID:11805270 "DO"] synonym: "distal muscular dystrophy Tateyama type" EXACT [] synonym: "MPDT" EXACT [] xref: MIM:614321 xref: ORDO:488650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111192 name: facioscapulohumeral muscular dystrophy 1 alt_id: MIM:158900 def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (DO)" [PMID:1363881 "DO", PMID:15154112 "DO"] synonym: "FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES" NARROW [] synonym: "Facioscapulohumeral Muscular Dystrophy 1A" EXACT [] synonym: "Facioscapulohumeral muscular dystrophy, infantile" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 1" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 1a" EXACT [] synonym: "FSHD1" EXACT [] synonym: "FSHD1A" EXACT [] synonym: "FSHMD1A" EXACT [] xref: MESH:C536391 xref: NCI:C172704 is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0111193 name: facioscapulohumeral muscular dystrophy 2 alt_id: MIM:158901 def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [PMID:20975055 "DO", PMID:23143600 "DO"] synonym: "facioscapulohumeral muscular dystrophy 1B" EXACT [] synonym: "facioscapulohumeral muscular dystrophy 2, digenic" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 1B" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 2" EXACT [] synonym: "FSHD1B" EXACT [] synonym: "FSHD2" EXACT [] synonym: "FSHD2, digenic" EXACT [] synonym: "FSHMD1B" EXACT [] synonym: "SMCHD1-RELATED CONDITION" BROAD [] synonym: "weakness of facial musculature" NARROW [] xref: MESH:C563557 xref: NCI:C172705 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0111194 name: autosomal dominant adult-onset proximal spinal muscular atrophy alt_id: MIM:182980 def: "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. (DO)" [PMID:15372378 "DO", PMID:7258225 "DO"] synonym: "autosomal dominant adult-onset proximal SMA" EXACT [] synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [] synonym: "Finkel disease" EXACT [] synonym: "Finkel Late-Adult Type SMA" EXACT [] synonym: "SMAFK" EXACT [] synonym: "SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE" EXACT [] synonym: "Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant" EXACT [] synonym: "VAPB-RELATED DISORDER" BROAD [] xref: MESH:C566673 xref: ORDO:209335 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111195 name: erythrokeratodermia variabilis et progressiva 1 alt_id: MIM:133200 def: "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (DO)" [PMID:12019212 "DO", PMID:9843209 "DO"] synonym: "EKVP1" EXACT [] is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111196 name: X-linked distal spinal muscular atrophy 3 alt_id: MIM:300489 def: "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (DO)" [PMID:14985388 "DO", PMID:20170900 "DO"] synonym: "ATP7A-related distal motor neuropathy" EXACT [] synonym: "DSMAX" EXACT [] synonym: "HMNX" EXACT [] synonym: "SMAX3" EXACT [] synonym: "X-linked dHMN3" EXACT [] synonym: "X-linked distal hereditary motor neuronopathy" EXACT [] synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [] synonym: "X-linked distal spinal muscular atrophy, recessive" EXACT [] synonym: "X-linked dSMA3" EXACT [] xref: MESH:C564506 xref: ORDO:139557 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111197 name: autosomal recessive distal hereditary motor neuronopathy def: "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. (DO)" [PMID:15358725 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [] xref: MIM:PS604320 xref: ORDO:140468 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111198 name: autosomal dominant distal hereditary motor neuronopathy def: "A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:15358725 "DO"] synonym: "autosomal dominant dHMN" EXACT [] synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT [] synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [] xref: MIM:PS182960 xref: ORDO:140465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111199 name: autosomal dominant distal hereditary motor neuronopathy 7 alt_id: DOID:0111201 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)" [PMID:23141292 "DO", PMID:7420092 "DO"] synonym: "dHMN7" EXACT [] synonym: "DHMN7A" EXACT [] synonym: "DHMNVP" EXACT [] synonym: "DHMNVPy" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VIIA" EXACT [] synonym: "distal hereditary motor neuronopathy type 7" EXACT [] synonym: "distal hereditary motor neuronopathy type 7A" EXACT [] synonym: "distal hereditary motor neuronopathy type VIIA" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VIIA" EXACT [] synonym: "distal hereditary motor neuropathy type VIIA" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7A" EXACT [] synonym: "Harper-Young myopath" EXACT [] synonym: "Harper-Young myopathy" EXACT [] synonym: "HMN7A" EXACT [] synonym: "HMND7" EXACT [] synonym: "HMN VIIA" EXACT [] xref: MESH:C563562 xref: MIM:158580 xref: MONDO:0008024 xref: ORDO:139589 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:9000586 ! Vocal Cord Paralysis [Term] id: DOID:0111200 name: autosomal dominant distal hereditary motor neuronopathy 1 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. (DO)" [PMID:17354000 "DO", PMID:7365507 "DO"] synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [] synonym: "dHMN1" EXACT [] synonym: "distal hereditary motor neuronopathy type 1" EXACT [] synonym: "distal hereditary motor neuropathy, type 1" EXACT [] synonym: "distal hereditary motor neuropathy, type I" EXACT [] synonym: "distal spinal muscular atrophy, juvenile, autosomal dominant, I" EXACT [] synonym: "HMN1" EXACT [] synonym: "HMND1" EXACT [] synonym: "HMN I" EXACT [] synonym: "spinal Charcot-Marie-Tooth disease 1" EXACT [] synonym: "spinal Charcot-Marie-Tooth disease I" EXACT [] xref: MESH:C566675 xref: MIM:182960 xref: MONDO:0008451 xref: NCI:C132826 xref: ORDO:139518 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0111202 name: autosomal dominant distal hereditary motor neuronopathy 14 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. (DO)" [PMID:12627231 "DO"] synonym: "DHMN7B" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VIIB" EXACT [] synonym: "distal hereditary motor neuronopathy type 7B" EXACT [] synonym: "distal hereditary motor neuronopathy, type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy with vocal cord paralysis, Harding type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy with vocal cord paralysis, type VIIB" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7B" EXACT [] synonym: "GENETIC MOTOR NEURON DISEASE" BROAD [] synonym: "HMN7B" EXACT [] synonym: "HMND14" EXACT [] synonym: "HMN VIIB" EXACT [] synonym: "lower motor neuron disease, dynactin type" EXACT [] xref: MESH:C564362 xref: MIM:607641 xref: MONDO:0011879 xref: NCI:C214860 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111203 name: autosomal dominant distal hereditary motor neuronopathy 5 alt_id: DOID:0111204 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)" [PMID:12690580 "DO", PMID:22703882 "DO"] synonym: "DHMN5" EXACT [] synonym: "DHMN5A" EXACT [] synonym: "DHMN-V" EXACT [] synonym: "DHMN VA" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VA" EXACT [] synonym: "distal hereditary motor neuronopathy type 5" EXACT [] synonym: "distal hereditary motor neuronopathy type 5A" EXACT [] synonym: "Distal Hereditary Motor Neuronopathy, Type V" EXACT [] synonym: "distal hereditary motor neuronopathy type VA" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VA" EXACT [] synonym: "Distal Hereditary Motor Neuropathy, Type V" EXACT [] synonym: "distal hereditary motor neuropathy, type VA" EXACT [] synonym: "distal HMN V" EXACT [] synonym: "distal HMN VA" EXACT [] synonym: "distal spinal muscular atrophy, Harding type V" EXACT [] synonym: "distal spinal muscular atrophy, type V" EXACT [] synonym: "distal spinal muscular atrophy, type VA" EXACT [] synonym: "distal spinal muscular atrophy, with upper limb predominance" EXACT [] synonym: "DSMAV" EXACT [] synonym: "DSMAVA" EXACT [] synonym: "HMN5" EXACT [] synonym: "HMN 5A" EXACT [] synonym: "HMN5A" EXACT [] synonym: "HMND5" EXACT [] synonym: "HMN V" EXACT [] synonym: "HMN VA" EXACT [] xref: MESH:C563443 xref: MIM:600794 xref: MONDO:0015353 xref: ORDO:139536 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111205 name: autosomal dominant distal hereditary motor neuronopathy 12 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. (DO)" [PMID:22703882 "DO"] synonym: "DHMN5B" EXACT [] synonym: "DHMN VB" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VB" EXACT [] synonym: "distal hereditary motor neuronopathy type 5B" EXACT [] synonym: "distal hereditary motor neuronopathy type VB" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VB" EXACT [] synonym: "distal hereditary motor neuropathy, type VB" EXACT [] synonym: "distal HMN VB" EXACT [] synonym: "distal spinal muscular atrophy, Harding type VB" EXACT [] synonym: "distal spinal muscular atrophy, type VB" EXACT [] synonym: "DSMAVB" EXACT [] synonym: "HMN5B" EXACT [] synonym: "HMND12" EXACT [] synonym: "HMN VB" EXACT [] xref: MIM:614751 xref: MONDO:0013884 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111206 name: autosomal dominant distal hereditary motor neuronopathy 2 alt_id: DOID:0111208 alt_id: DOID:9000254 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (DO)" [PMID:15122253 "DO", PMID:1517763 "DO", PMID:15358725 "DO"] synonym: "autosomal dominant adult spinal muscular atrophy IIA" EXACT [] synonym: "Charcot-Marie-Tooth disease, spinal, IIA" EXACT [] synonym: "DHMN2A" EXACT [] synonym: "distal hereditary motor neuronopathy type 2" EXACT [] synonym: "distal hereditary motor neuronopathy type 2A" EXACT [] synonym: "distal hereditary motor neuronopathy, type IIA" EXACT [] synonym: "distal hereditary motor neuropathy type 2" EXACT [] synonym: "distal hereditary motor neuropathy type II" EXACT [] synonym: "distal hereditary motor neuropathy type IIA" EXACT [] synonym: "distal spinal muscular atrophy, adult autosomal dominant, IIA" EXACT [] synonym: "HMN2" EXACT [] synonym: "HMN2A" EXACT [] synonym: "HMND2" EXACT [] synonym: "HMN II" EXACT [] synonym: "HMN IIA" EXACT [] xref: MESH:C563561 xref: MESH:C580044 xref: MIM:158590 xref: MONDO:0008025 xref: ORDO:139525 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111207 name: autosomal dominant distal hereditary motor neuronopathy 3 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. (DO)" [PMID:18832141 "DO"] synonym: "DHMN2B" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type IIB" EXACT [] synonym: "distal hereditary motor neuronopathy type 2B" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type IIB" EXACT [] synonym: "distal hereditary motor neuropathy type 2B" EXACT [] synonym: "distal hereditary motor neuropathy, type IIB" EXACT [] synonym: "HMN2B" EXACT [] synonym: "HMND3" EXACT [] synonym: "HMN IIB" EXACT [] synonym: "HSPB1-related disorder" BROAD [] xref: MESH:C567084 xref: MIM:608634 xref: MONDO:0012080 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111209 name: autosomal dominant distal hereditary motor neuronopathy 4 def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. (DO)" [PMID:20142617 "DO"] synonym: "DHMN2C" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type IIC" EXACT [] synonym: "distal hereditary motor neuronopathy type 2C" EXACT [] synonym: "distal hereditary motor neuronopathy, type IIC" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal dominant 4" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type IIC" EXACT [] synonym: "distal hereditary motor neuropathy, type IIC" EXACT [] synonym: "HMN2C" EXACT [] synonym: "HMND4" EXACT [] synonym: "HMN IIC" EXACT [] xref: MIM:613376 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111210 name: autosomal dominant distal hereditary motor neuronopathy 6 def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. (DO)" [PMID:24207122 "DO"] synonym: "DHMN2D" EXACT [] synonym: "DISTAL HEREDITARY MOTOR NEURONOPATHY 2D" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type IID" EXACT [] synonym: "distal hereditary motor neuronopathy type 2D" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type IID" EXACT [] synonym: "distal hereditary motor neuropathy type IID" EXACT [] synonym: "distal spinal muscular atrophy, autosomal dominant, calf-predominant" EXACT [] synonym: "distal spinal muscular atrophy with calf predominance" EXACT [] synonym: "FBXO38-RELATED CONDITION" EXACT [] synonym: "HMN2D" EXACT [] synonym: "HMND6" EXACT [] synonym: "HMN IID" EXACT [] xref: MIM:615575 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111211 name: autosomal recessive distal hereditary motor neuronopathy 3 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. (DO)" [PMID:15054395 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 3" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [] synonym: "DHMN3" EXACT [] synonym: "dHMN3 and dHMN4" EXACT [] synonym: "DHMN4" EXACT [] synonym: "distal hereditary motor neuropathy type 3" EXACT [] synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [] synonym: "distal hereditary motor neuropathy type 4" EXACT [] synonym: "distal hereditary motor neuropathy, type IV" EXACT [] synonym: "distal spinal muscular atrophy type 3" EXACT [] synonym: "DSMA3" EXACT [] synonym: "HMN3" EXACT [] synonym: "HMN4" EXACT [] synonym: "HMN III" EXACT [] synonym: "HMN IV" EXACT [] synonym: "HMNR3" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Harding Type III" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Harding Type IV" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Type III" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Type IV" EXACT [] xref: MESH:C564626 xref: MIM:607088 xref: MONDO:0011771 xref: ORDO:139547 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111212 name: autosomal dominant distal hereditary motor neuronopathy 9 def: "An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. (DO)" [PMID:28369220 "DO"] synonym: "DHMN9" EXACT [] synonym: "distal hereditary motor neuronopathy type 9" EXACT [] synonym: "distal hereditary motor neuronopathy type IX" EXACT [] synonym: "distal hereditary motor neuropathy type IX" EXACT [] synonym: "HMN9" EXACT [] synonym: "HMND9" EXACT [] synonym: "WARS1-RELATED CONDITION" BROAD [] xref: MIM:617721 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111213 name: autosomal recessive distal hereditary motor neuronopathy 4 alt_id: MIM:611067 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. (DO)" [PMID:16728649 "DO", PMID:17564964 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 4" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [] synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 4" EXACT [] synonym: "distal spinal muscular atrophy type 4" EXACT [] synonym: "DSMA4" EXACT [] synonym: "GENETIC MOTOR NEURON DISEASE" BROAD [] synonym: "HMNR4" EXACT [] synonym: "PLEKHG5-RELATED CONDITION" BROAD [] xref: MESH:C567023 xref: ORDO:206580 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111214 name: autosomal recessive distal hereditary motor neuronopathy 5 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (DO)" [PMID:22522442 "DO", PMID:25274842 "DO"] synonym: "autosomal recessive distal hereditary motor neuropathy 5" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy 5" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [] synonym: "distal spinal muscular atrophy type 5" EXACT [] synonym: "DSMA5" EXACT [] synonym: "HMNR5" EXACT [] synonym: "young adult-onset dHMN" EXACT [] synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [] xref: MIM:614881 xref: MONDO:0013947 xref: ORDO:314485 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111215 name: autosomal dominant distal hereditary motor neuronopathy 8 alt_id: MIM:600175 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. (DO)" [PMID:20037588 "DO", PMID:21336783 "DO", PMID:4056805 "DO"] synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [] synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [] synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [] synonym: "congenital nonprogressive distal spinal muscular atrophy" EXACT [] synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [] synonym: "DHMN8" EXACT [] synonym: "distal hereditary motor neuronopathy type 8" EXACT [] synonym: "distal hereditary motor neuronopathy, type VIII" EXACT [] synonym: "distal hereditary motor neuropathy, type VIII" EXACT [] synonym: "HMN8" EXACT [] synonym: "HMND8" EXACT [] xref: MESH:C563981 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111216 name: autosomal recessive centronuclear myopathy def: "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)" [PMID:30103348 "DO"] synonym: "AR-CNM" EXACT [] synonym: "centronuclear myopathy, recessive" EXACT [] synonym: "myotubular myopathy, autosomal recessive" EXACT [] xref: GARD:12718 xref: MESH:C562934 xref: MONDO:0015705 xref: OMIA:001660 xref: ORDO:169186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14717 ! centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111217 name: autosomal dominant centronuclear myopathy def: "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. (DO)" [PMID:30103348 "DO"] synonym: "AD-CNM" EXACT [] synonym: "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF" RELATED [] xref: GARD:12719 xref: ICD10CM:G71.228 xref: ORDO:169189 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14717 ! centronuclear myopathy [Term] id: DOID:0111218 name: Friedreich ataxia 1 def: "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. (DO)" [PMID:10500204 "DO", PMID:10543403 "DO"] synonym: "FA1" EXACT [] synonym: "FARR" NARROW [] synonym: "FRDA" EXACT [] synonym: "FRDA1" EXACT [] synonym: "Friedreich ataxia with retained reflexes" NARROW [] synonym: "FXN-related disorder" EXACT [] xref: MESH:C565561 xref: MIM:229300 xref: MONDO:0100340 is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:0111219 name: Friedreich ataxia 2 def: "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. (DO)" [PMID:11523563 "DO"] synonym: "FRDA2" EXACT [] xref: MESH:C566594 xref: MIM:601992 xref: MONDO:0011175 is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:0111220 name: centronuclear myopathy 2 def: "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)" [PMID:17676042 "DO"] synonym: "autosomal recessive centronuclear myopathy 2" EXACT [] synonym: "BIN1-RELATED CONDITION" EXACT [] synonym: "CNM2" EXACT [] xref: MIM:255200 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111221 name: centronuclear myopathy 6 with fiber-type disproportion def: "An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. (DO)" [PMID:27816943 "DO"] synonym: "CNM6" EXACT [] synonym: "MAP3K20-RELATED CONDITION" BROAD [] xref: MIM:617760 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111222 name: centronuclear myopathy 5 def: "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. (DO)" [PMID:25087613 "DO"] synonym: "CNM5" EXACT [] synonym: "SPEG-RELATED CONDITION" EXACT [] synonym: "SPEG-RELATED CONGENITAL MYOPATHY" EXACT [] xref: MIM:615959 xref: MONDO:0014418 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111223 name: centronuclear myopathy 1 def: "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. (DO)" [PMID:16227997 "DO"] synonym: "centronuclear myopathy 3" RELATED [] synonym: "centronuclear myopathy, dominant" EXACT [] synonym: "CNM1" EXACT [] synonym: "CNM3" RELATED [] synonym: "MTMR14-RELATED CONDITION" EXACT [] xref: MIM:160150 xref: NCI:C126689 is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111224 name: centronuclear myopathy 4 def: "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. (DO)" [PMID:22818856 "DO"] synonym: "CNM4" EXACT [] xref: MIM:614807 xref: MONDO:0013890 is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111225 name: centronuclear myopathy X-linked alt_id: OMIA:001508 def: "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. (DO)" [PMID:8640223 "DO"] synonym: "CNMX" EXACT [] synonym: "MTMX" EXACT [] synonym: "SEVERE X-LINKED MYOTUBULAR MYOPATHY" NARROW [] synonym: "XLCNM" EXACT [] synonym: "X-linked myotubular myopathies" EXACT [] synonym: "X-linked myotubular myopathy" EXACT [] synonym: "XLMTM" EXACT [] xref: GARD:11925 xref: ICD10CM:G71.220 xref: MIM:310400 xref: NCI:C118781 is_a: DOID:14717 ! centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111226 name: X-linked congenital myopathy with fiber-type disproportion def: "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. (DO)" [PMID:16173074 "DO"] synonym: "CFTDX" EXACT [] xref: MESH:C567594 xref: MIM:300580 xref: MONDO:0010365 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080102 ! congenital myopathy 4A is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111227 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7 alt_id: DOID:0060208 def: "A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. (DO)" [https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources "DO", https://www.ncbi.nlm.nih.gov/books/NBK1199/ "DO", PMID:16041373 "DO"] synonym: "ALS17" EXACT [] synonym: "ALS17 (FORMERLY)" EXACT [] synonym: "amyotrophic lateral sclerosis 17" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)" EXACT [] synonym: "amyotrophic lateral sclerosis type 17" EXACT [] synonym: "CHMP2B-RELATED" EXACT [] synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [] synonym: "CHMP2B-related condition" EXACT [] synonym: "CHMP2B-related frontotemporal dementia" EXACT [] synonym: "chromosome 3-linked frontotemporal dementia" EXACT [] synonym: "DEM" EXACT [] synonym: "DMT1" EXACT [] synonym: "DTM1" EXACT [] synonym: "familial nonspecific dementia" EXACT [] synonym: "FTD-3" EXACT [] synonym: "FTD3" EXACT [] synonym: "FTDALS7" EXACT [] synonym: "FTD-CHMP2B" EXACT [] xref: MESH:C563708 xref: MESH:C579991 xref: MIM:600795 xref: MIM:614696 xref: NCI:C214863 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0111228 name: Sveinsson chorioretinal atrophy def: "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. (DO)" [PMID:15016762 "DO", PMID:419979 "DO"] synonym: "AA" EXACT [] synonym: "atrophia areata" EXACT [] synonym: "helicoidal peripapillary chorioretinal degeneration" EXACT [] synonym: "helicoid peripapillary chorioretinal degeneration" EXACT [] synonym: "HPCD" EXACT [] synonym: "peripapillary chorioretinal degeneration, Icelandic type" EXACT [] synonym: "SCRA" EXACT [] synonym: "Sveinsson choreoretinal atrophy" RELATED [] synonym: "TEAD1-RELATED CONDITION" EXACT [] xref: MESH:C566236 xref: MIM:108985 xref: MONDO:0007176 xref: ORDO:86813 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0111229 name: congenital muscular dystrophy-dystroglycanopathy type A def: "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. (DO)" [PMID:23453667 "DO"] synonym: "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" EXACT [] synonym: "klissencephaly type 2 with muscular and ocular involvement" EXACT [] synonym: "MDDGA" EXACT [] xref: MIM:PS236670 xref: MONDO:0000171 xref: ORDO:352687 is_a: DOID:0050560 ! Walker-Warburg syndrome is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy [Term] id: DOID:0111230 name: congenital muscular dystrophy-dystroglycanopathy type A11 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. (DO)" [PMID:23453667 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11" EXACT [] synonym: "MDDGA11" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related" EXACT [] xref: MIM:615181 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111231 name: congenital muscular dystrophy-dystroglycanopathy type A8 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)" [PMID:22958903 "DO"] synonym: "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8" EXACT [] synonym: "MDDGA8" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8" EXACT [] synonym: "WALKER-WARBURG SYNDROME, GTDC2-RELATED" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related" EXACT [] xref: MIM:614830 xref: MONDO:0013904 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111232 name: congenital muscular dystrophy-dystroglycanopathy type A9 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. (DO)" [PMID:24052401 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9" EXACT [] synonym: "DAG1-RELATED CONDITION" BROAD [] synonym: "MDDGA9" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" EXACT [] synonym: "WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED" EXACT [] xref: MIM:616538 xref: MONDO:0014683 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111233 name: congenital muscular dystrophy-dystroglycanopathy type A14 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. (DO)" [PMID:23768512 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy A14" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14" EXACT [] synonym: "MDDGA14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" EXACT [] xref: MIM:615350 xref: MONDO:0014140 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111234 name: congenital muscular dystrophy-dystroglycanopathy type A7 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. (DO)" [PMID:22522420 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy A7" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7" EXACT [] synonym: "ISPD-related disorder" BROAD [] synonym: "MDDGA7" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT [] xref: MIM:614643 xref: MONDO:0013835 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111235 name: congenital muscular dystrophy-dystroglycanopathy type A12 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)" [PMID:23519211 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12" EXACT [] synonym: "MDDGA12" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" EXACT [] xref: MIM:615249 xref: MONDO:0014101 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111236 name: congenital muscular dystrophy-dystroglycanopathy type A3 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)" [PMID:11709191 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3" EXACT [] synonym: "MDDGA3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" EXACT [] xref: MIM:253280 xref: MONDO:0009667 xref: NCI:C126740 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111237 name: congenital muscular dystrophy-dystroglycanopathy type A1 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)" [PMID:12369018 "DO"] synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [] synonym: "COD MD syndrome" EXACT [] synonym: "COD-MD syndromes" EXACT [] synonym: "congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type A1" EXACT [] synonym: "HARD syndrome" EXACT [] synonym: "HARD syndromes" EXACT [] synonym: "hydrocephalus, agyria, and retinal dysplasia" EXACT [] synonym: "MDDGA1" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related" EXACT [] xref: MIM:236670 xref: NCI:C128118 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111238 name: congenital muscular dystrophy-dystroglycanopathy type A13 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. (DO)" [PMID:23359570 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13" EXACT [] synonym: "MDDGA13" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GAT1-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related" EXACT [] xref: MIM:615287 xref: MONDO:0014120 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111239 name: congenital muscular dystrophy-dystroglycanopathy type A10 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. (DO)" [PMID:23217329 "DO"] synonym: "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10" EXACT [] synonym: "MDDGA10" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10" EXACT [] synonym: "RXYLT1-related condition" BROAD [] xref: MIM:615041 xref: MONDO:0014022 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111240 name: congenital muscular dystrophy-dystroglycanopathy type A2 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)" [PMID:15894594 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2" EXACT [] synonym: "MDDGA2" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related" EXACT [] xref: MIM:613150 xref: MONDO:0013154 xref: NCI:C126742 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111241 name: congenital muscular dystrophy-dystroglycanopathy type A5 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. (DO)" [PMID:15121789 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5" EXACT [] synonym: "MDDGA5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" EXACT [] xref: MIM:613153 xref: MONDO:0013157 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111242 name: congenital muscular dystrophy-dystroglycanopathy type A6 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. (DO)" [PMID:17436019 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6" EXACT [] synonym: "MDDGA6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related" EXACT [] xref: MIM:613154 xref: NCI:C126743 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111243 name: acromicric dysplasia alt_id: MIM:102370 def: "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)" [PMID:21683322 "DO", PMID:3728563 "DO"] synonym: "ACMICD" EXACT [] synonym: "acromicric skeletal dysplasia" EXACT [] synonym: "geleophysic dwarfism" EXACT [] xref: GARD:7 xref: MESH:C535662 xref: ORDO:969 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0111244 name: palmoplantar keratoderma and congenital alopecia 1 def: "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)" [PMID:20635335 "DO", PMID:25168385 "DO"] synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [] synonym: "autosomal dominant palmoplantar keratoderma and congenital alopecia" EXACT [] synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" EXACT [] synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [] synonym: "PPKCA1" EXACT [] synonym: "PPK-CA, Stevanovic type" EXACT [] synonym: "PPKCA, Stevanovic type" EXACT [] xref: GARD:604 xref: MIM:104100 xref: ORDO:1010 is_a: DOID:0080015 ! physical disorder is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9007076 ! Alopecia Congenita Keratosis Palmoplantaris [Term] id: DOID:0111245 name: palmoplantar keratoderma and congenital alopecia 2 alt_id: MIM:212360 def: "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)" [PMID:20635335 "DO"] synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [] synonym: "autosomal recessive palmoplantar keratoderma and congenital alopecia" EXACT [] synonym: "CASS" EXACT [] synonym: "cataract, alopecia, sclerodactyly" EXACT [] synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [] synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [] synonym: "PPKCA2" EXACT [] synonym: "PPK-CA, Wallis type" EXACT [] synonym: "PPKCA Wallis type" EXACT [] xref: MESH:C535336 xref: ORDO:1366 is_a: DOID:0080015 ! physical disorder is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:83 ! cataract is_a: DOID:8472 ! localized scleroderma is_a: DOID:987 ! alopecia [Term] id: DOID:0111246 name: amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 def: "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. (DO)" [PMID:16051700 "DO", PMID:5770171 "DO"] synonym: "ALS-PDC" EXACT [] synonym: "amyotrophic lateral sclerosis, Guam form" EXACT [] synonym: "amyotrophic lateral sclerosis, parkinsonism, dementia complex of Guam" EXACT [] synonym: "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [] synonym: "Guam disease" EXACT [] synonym: "Guam form of amyotrophic lateral sclerosis" EXACT [] synonym: "Guam PD" EXACT [] synonym: "Lytico-Bodig disease" EXACT [] synonym: "parkinsonism-dementia-ALS complex" EXACT [] synonym: "parkinsonism-dementia of Guam" EXACT [] synonym: "PDALS" EXACT [] synonym: "TRPM7-RELATED CONDITION" EXACT [] xref: GARD:9239 xref: MIM:105500 xref: ORDO:90020 is_a: DOID:1307 ! dementia is_a: DOID:14330 ! Parkinson's disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0111247 name: hypertension and brachydactyly syndrome alt_id: MIM:112410 def: "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. (DO)" [PMID:25961942 "DO", PMID:4774535 "DO"] synonym: "Bilginturan brachydactyly" EXACT [] synonym: "Bilginturan syndrome" EXACT [] synonym: "brachydactyly type E with short stature and hypertension" EXACT [] synonym: "brachydactyly with hypertension" EXACT [] synonym: "HTNB" EXACT [] synonym: "PDE3A-RELATED CONDITION" EXACT [] xref: GARD:967 xref: MESH:C537095 xref: ORDO:1276 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10763 ! hypertension is_a: DOID:225 ! syndrome [Term] id: DOID:0111248 name: cerebrocostomandibular syndrome alt_id: MIM:117650 def: "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. (DO)" [PMID:19008299 "DO", PMID:25047197 "DO"] synonym: "CCMS" EXACT [] synonym: "CCM syndrome" EXACT [] synonym: "cerebrocostomandibular-like syndrome" EXACT [] synonym: "cerebro-costo-mandibular syndrome" EXACT [] synonym: "rib gap defects with micrognathia" EXACT [] synonym: "SNRPB-RELATED CONDITION" EXACT [] xref: GARD:6026 xref: MESH:C562538 xref: ORDO:1393 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0111249 name: uveal coloboma-cleft lip and palate-intellectual disability alt_id: MESH:C535971 alt_id: MIM:120433 def: "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. (DO)" [PMID:24462371 "DO"] synonym: "COB1" EXACT [] synonym: "coloboma, cleft lip/palate and mental retardation syndrome" EXACT [] synonym: "coloboma-microphthalmos syndrome" EXACT [] synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" EXACT [] synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development" EXACT [] synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation" EXACT [] synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" EXACT [] synonym: "uveal coloboma, with cleft lip and palate and mental retardation" EXACT [] synonym: "YAP1-RELATED CONDITION" EXACT [] xref: GARD:1440 xref: MESH:C565173 xref: ORDO:1473 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9296 ! cleft lip [Term] id: DOID:0111250 name: Parkinson's disease 3 alt_id: MESH:C566552 alt_id: MIM:602404 def: "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. (DO)" [PMID:14663042 "DO", PMID:9500549 "DO"] synonym: "PARK3" EXACT [] synonym: "Parkinson's disease 3, autosomal dominant" EXACT [] synonym: "Parkinson's disease 3, autosomal dominant Lewy body" EXACT [] synonym: "Parkinson disease 3" EXACT [] synonym: "Parkinson disease 3, autosomal dominant" EXACT [] synonym: "Parkinson disease 3, autosomal dominant Lewy body" EXACT [] xref: MESH:C537176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0111251 name: Parkinson's disease 21 def: "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. (DO)" [PMID:24218364 "DO", PMID:27270108 "DO"] synonym: "PARK21" EXACT [] synonym: "Parkinson disease 21" EXACT [] synonym: "Parkinson disease type 21" EXACT [] xref: MIM:616361 xref: MONDO:0014604 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0111252 name: vestibular schwannomatosis alt_id: MIM:101000 def: "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. (DO)" [PMID:35674741 "DO"] synonym: "ACN" EXACT [] synonym: "acoustic neurofibromatosis" EXACT [] synonym: "BANF" EXACT [] synonym: "Bilateral Acoustic Neurinoma" EXACT [] synonym: "bilateral acoustic neurinomas" EXACT [] synonym: "bilateral acoustic neurofibromatoses" EXACT [] synonym: "Bilateral Acoustic Neurofibromatosis" EXACT [] synonym: "bilateral acoustic neuroma" EXACT [] synonym: "Bilateral Acoustic Schwannoma" EXACT [] synonym: "bilateral acoustic schwannomas" EXACT [] synonym: "BILATERAL VESTIBULAR SCHWANNOMA" EXACT [] synonym: "central neurofibromatoses" EXACT [] synonym: "Central Neurofibromatosis" EXACT [] synonym: "Central NF2 Neurofibromatoses" EXACT [] synonym: "Central NF2 Neurofibromatosis" EXACT [] synonym: "Familial Acoustic Neuroma" EXACT [] synonym: "Familial Acoustic Neuromas" EXACT [] synonym: "neurofibromatosis 2" EXACT [] synonym: "Neurofibromatosis, Central, NF 2" EXACT [] synonym: "Neurofibromatosis, central type" EXACT [] synonym: "Neurofibromatosis II" EXACT [] synonym: "Neurofibromatosis Type 2" EXACT [] synonym: "neurofibromatosis type II" EXACT [] synonym: "NF2" EXACT [] synonym: "NF2 (neurofibromatosis 2)" EXACT [] synonym: "NF2-related schwannomatosis" EXACT [] synonym: "schwannomatosis 3" EXACT [] synonym: "SWN3" EXACT [] synonym: "SWNV" EXACT [] synonym: "type 2 neurofibromatoses" EXACT [] synonym: "type II neurofibromatoses" EXACT [] xref: EFO:0004122 xref: GARD:7193 xref: ICD10CM:Q85.02 xref: ICD9CM:237.72 xref: MESH:D016518 xref: MONDO:0007039 xref: NCI:C3274 xref: ORDO:637 is_a: DOID:12689 ! acoustic neuroma is_a: DOID:3204 ! schwannomatosis [Term] id: DOID:0111253 name: neurofibromatosis 1 alt_id: MIM:162200 def: "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. (DO)" [PMID:34012067 "DO", PMID:35698197 "DO"] synonym: "molluscum fibrosum" EXACT [] synonym: "neurofibromatoses type I" EXACT [] synonym: "neurofibromatosis I" EXACT [] synonym: "neurofibromatosis type 1" EXACT [] synonym: "neurofibromatosis type I" EXACT [] synonym: "NF1" EXACT [] synonym: "NF1 (neurofibromatosis 1)" EXACT [] synonym: "peripheral neurofibromatoses" EXACT [] synonym: "peripheral neurofibromatosis" EXACT [] synonym: "peripheral neurofibromatosis, NF 1" EXACT [] synonym: "peripheral neurofibromatosis, NF1" EXACT [] synonym: "peripheral type neurofibromatosis" EXACT [] synonym: "Recklinghausen's disease of nerve" EXACT [] synonym: "Recklinghausen's neurofibromatosis" EXACT [] synonym: "Recklinghausen disease, nerve" EXACT [] synonym: "Recklinghausen disease of nerve" EXACT [] synonym: "Recklinghausens disease of nerve" EXACT [] synonym: "von Recklinghausen's disease" EXACT [] synonym: "von Recklinghausen disease" EXACT [] synonym: "von Recklinghausens disease" EXACT [] xref: ICD10CM:Q85.01 xref: ICD9CM:237.71 xref: MESH:D009456 xref: NCI:C3273 xref: ORDO:636 is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:0111254 name: glutaric acidemia I def: "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. (DO)" [PMID:16602100 "DO"] synonym: "GA1" EXACT [] synonym: "GA I" EXACT [] synonym: "glutaric academia type 1" EXACT [] synonym: "glutaric acidemia 1" EXACT [] synonym: "glutaric acidemia type 1" EXACT [] synonym: "Glutaric Acidemia Type I" EXACT [] synonym: "glutaric aciduria 1" EXACT [] synonym: "glutaric aciduria I" EXACT [] synonym: "glutaric aciduria type 1" EXACT [] synonym: "glutaric aciduria type I" EXACT [] synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT [] synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [] xref: GARD:6522 xref: MESH:C536833 xref: MIM:231670 xref: MONDO:0009281 xref: NCI:C99101 xref: ORDO:25 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060159 ! organic acidemia is_a: DOID:9005627 ! Metabolic Brain Diseases is_a: DOID:9009132 ! Glutaric Aciduria [Term] id: DOID:0111255 name: McKusick-Kaufman syndrome alt_id: MIM:236700 def: "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. (DO)" [PMID:10802661 "DO", PMID:21044901 "DO"] synonym: "HMCS" EXACT [] synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" EXACT [] synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [] synonym: "hydrometrocolpos syndrome" EXACT [] synonym: "MKKS" EXACT [] synonym: "MKKS-RELATED CONDITION" BROAD [] xref: GARD:3427 xref: MESH:C538159 xref: ORDO:2473 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1148 ! polydactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:345 ! uterine disease is_a: DOID:9005371 ! Hydrocolpos is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111256 name: hyperferritinemia-cataract syndrome alt_id: MIM:600886 def: "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. (DO)" [PMID:7493028 "DO", PMID:7669675 "DO"] synonym: "Bonneau-Beaumont syndrome" EXACT [] synonym: "dominant hyperferritinemia and cataract" EXACT [] synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [] synonym: "hereditary hyperferritinemia with congenital cataracts" EXACT [] synonym: "HHCS" EXACT [] synonym: "HRFTC" EXACT [] synonym: "hyperferritinemia with or without cataract" EXACT [] xref: GARD:2806 xref: MESH:C538137 xref: ORDO:163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001887 ! Hyperferritinemia [Term] id: DOID:0111257 name: gamma-glutamyl transpeptidase deficiency alt_id: MIM:231950 def: "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. (DO)" [PMID:29483667 "DO"] synonym: "gamma-glutamyl transferase deficiency" EXACT [] synonym: "gamma-glutamyltransferase deficiency" EXACT [] synonym: "Gamma-glutamyltranspeptidase deficiency" EXACT [] synonym: "GGT1 deficiency" EXACT [] synonym: "GGT DEFICIENCY" EXACT [] synonym: "Glutathionuria" EXACT [] synonym: "GTG deficiency" EXACT [] xref: GARD:10099 xref: MESH:C536836 xref: ORDO:33573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111258 name: pentosuria alt_id: DOID:9008597 def: "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. (DO)" [PMID:22042873 "DO"] synonym: "essential pentosuria" EXACT [] synonym: "L-Xylulose reductase deficiency" EXACT [] synonym: "L-Xylulosuria" EXACT [] synonym: "PNTSU" EXACT [] synonym: "xylitol dehydrogenase deficiency" EXACT [] xref: GARD:418 xref: ICD10CM:E74.89 xref: MESH:C536652 xref: MIM:260800 xref: MONDO:0009846 xref: ORDO:2843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111259 name: postaxial acrofacial dysostosis alt_id: MIM:263750 def: "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. (DO)" [PMID:19915526 "DO", PMID:501501 "DO"] synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [] synonym: "DHODH-RELATED CONDITION" EXACT [] synonym: "Genee-Wiedemann acrofacial dysostosis" EXACT [] synonym: "Genee-Wiedemann syndrome" EXACT [] synonym: "mandibulfacial dysostosis with postaxial limb anomalies" EXACT [] synonym: "Miller syndrome" EXACT [] synonym: "POADS" EXACT [] synonym: "POADS syndrome" EXACT [] synonym: "postaxial acrodysostosis" EXACT [] synonym: "postaxial acrofacial dysostosis (POADS)" EXACT [] synonym: "postaxial acrofacial dysostosis (POADS) syndrome" EXACT [] synonym: "Wildervanck-Smith syndrome" EXACT [] xref: GARD:8410 xref: MESH:C537680 xref: ORDO:246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0111260 name: phosphoribosylpyrophosphate synthetase superactivity alt_id: MIM:300661 def: "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (DO)" [PMID:20301734 "DO", PMID:8253776 "DO"] synonym: "gout, PRPS-related" EXACT [] synonym: "PRPP synthetase superactivity" EXACT [] synonym: "PRPS1 superactivity" EXACT [] xref: MESH:C567064 xref: ORDO:3222 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:0111261 name: fumarase deficiency alt_id: MIM:606812 def: "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (DO)" [PMID:22069215 "DO", PMID:8200987 "DO"] synonym: "FH-RELATED CONDITION" BROAD [] synonym: "FMRD" EXACT [] synonym: "fumarate hydratase deficiency" EXACT [] synonym: "fumaric aciduria" EXACT [] synonym: "fumaricaciduria" EXACT [] xref: GARD:6476 xref: MESH:C538191 xref: ORDO:24 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111262 name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly def: "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. (DO)" [PMID:20950787 "DO"] synonym: "MED17-RELATED CONDITION" EXACT [] synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" EXACT [] synonym: "postnatal progressive microcephaly with seizures and brain atrophy" EXACT [] xref: GARD:10995 xref: MIM:613668 xref: MONDO:0013351 xref: ORDO:402364 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9004462 ! Atrophy is_a: DOID:936 ! brain disease [Term] id: DOID:0111263 name: combined malonic and methylmalonic acidemia alt_id: MIM:614265 def: "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (DO)" [PMID:21841779 "DO", PMID:9700595 "DO"] synonym: "ACSF3-RELATED DISORDER" EXACT [] synonym: "CMAMMA" EXACT [] synonym: "combined malonic and methylmalonic aciduria" EXACT [] xref: GARD:10818 xref: MESH:C580002 xref: ORDO:289504 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:0111264 name: Ruijs-Aalfs syndrome def: "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. (DO)" [PMID:25261934 "DO"] synonym: "progeroid features-hepatocellular carcinoma predisposition syndrome" EXACT [] synonym: "RJALS" EXACT [] synonym: "SPRTN-related condition" BROAD [] xref: MIM:616200 xref: MONDO:0014527 xref: ORDO:435953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:3911 ! progeria is_a: DOID:684 ! hepatocellular carcinoma is_a: DOID:9002981 ! Genomic Instability is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0111265 name: Boucher-Neuhauser syndrome alt_id: MIM:215470 def: "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)" [PMID:24355708 "DO"] synonym: "ataxia-hypogonadism-choroidal dystrophy syndrome" EXACT [] synonym: "BNHS" EXACT [] synonym: "chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism" EXACT [] xref: GARD:944 xref: MESH:C565850 xref: ORDO:1180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111266 name: geroderma osteodysplasticum alt_id: MIM:231070 def: "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. (DO)" [PMID:18997784 "DO", PMID:26000619 "DO"] synonym: "geroderma osteodysplastica" EXACT [] synonym: "geroderma osteodysplastica hereditaria" EXACT [] synonym: "gerodermia osteodysplastica" EXACT [] synonym: "GO" EXACT [] synonym: "GORAB-RELATED CONDITION" EXACT [] synonym: "Walt Disney dwarfism" EXACT [] xref: GARD:413 xref: MESH:C537799 xref: ORDO:2078 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111267 name: hyaline body myopathy def: "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. (DO)" [PMID:22918376 "DO"] synonym: "myosin storage myopathy" EXACT [] xref: GARD:7148 xref: ORDO:53698 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0111268 name: autosomal recessive hyaline body myopathy def: "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)" [PMID:17372140 "DO"] synonym: "autosomal recessive myosin storage congenital myopathy 7B" EXACT [] synonym: "autosomal recessive myosin storage myopathy" EXACT [] synonym: "CMYO7B" EXACT [] synonym: "CMYP7B" EXACT [] synonym: "congenital myopathy 7B" EXACT [] synonym: "MSMB" EXACT [] xref: MESH:C564970 xref: MIM:255160 xref: MONDO:0009708 xref: ORDO:636970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111267 ! hyaline body myopathy [Term] id: DOID:0111269 name: autosomal dominant hyaline body myopathy alt_id: DOID:9001810 def: "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)" [PMID:16684601 "DO"] synonym: "autosomal dominant myosin storage congenital myopathy 7A" EXACT [] synonym: "CMYO7A" EXACT [] synonym: "CMYP7A" EXACT [] synonym: "congenital myopathy 7A" EXACT [] synonym: "MSMA" EXACT [] synonym: "myopathy with lysis of type I myofibrils" EXACT [] synonym: "myosin storage myopathy, autosomal dominant" EXACT [] synonym: "scapuloperoneal muscular dystrophy" EXACT [] synonym: "scapuloperoneal myopathy, MYH7-related" EXACT [] synonym: "scapuloperoneal syndrome, myopathic type" EXACT [] synonym: "SPMD" EXACT [] synonym: "SPMM" EXACT [] xref: MESH:C564253 xref: MIM:608358 xref: MONDO:0008409 xref: NCI:C206090 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060253 ! scapuloperoneal myopathy is_a: DOID:0111267 ! hyaline body myopathy [Term] id: DOID:0111270 name: isolated sulfite oxidase deficiency alt_id: MIM:272300 def: "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK453433/ "DO", PMID:6025118 "DO", PMID:9428520 "DO"] synonym: "sulfite oxidase deficiency" EXACT [] synonym: "sulfocysteinuria" EXACT [] synonym: "SUOX-RELATED DISORDER" EXACT [] xref: GARD:5062 xref: MESH:C538141 xref: ORDO:99731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111271 name: Oliver-McFarlane syndrome alt_id: MIM:275400 def: "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)" [PMID:25480986 "DO"] synonym: "congenital trichomegaly, pigmentary retinal degeneration, and short stature" EXACT [] synonym: "long eyelashes-intellectual disability syndrome" EXACT [] synonym: "long eyelashes, mental retardation" EXACT [] synonym: "long eyelashes with mental retardation" EXACT [] synonym: "OMCS" EXACT [] synonym: "trichomegaly, pigmentary retina degeneration, dwarfism" EXACT [] synonym: "trichomegaly-retina pigmentary degeneration-dwarfism syndrome" EXACT [] synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina" EXACT [] xref: GARD:5266 xref: MESH:C536554 xref: ORDO:3363 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060260 ! ptosis is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0111272 name: occipital horn syndrome alt_id: MIM:304150 def: "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. (DO)" [PMID:7842019 "DO", PMID:7887410 "DO"] synonym: "EDS9" EXACT [] synonym: "EDS IX" EXACT [] synonym: "Ehlers-Danlos syndrome, occipital horn type" EXACT [] synonym: "Ehlers-Danlos syndrome type 9" EXACT [] synonym: "Ehlers-Danlos syndrome type IX" EXACT [] synonym: "OHS" EXACT [] synonym: "X-linked cutis laxa" EXACT [] xref: GARD:4017 xref: MESH:C537860 xref: ORDO:198 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:3144 ! cutis laxa is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0111273 name: NARP syndrome alt_id: MIM:551500 def: "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)" [PMID:2137962 "DO"] synonym: "neurogenic muscle weakness, ataxia, and retinitis pigmentosa" EXACT [] synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [] synonym: "neuropathy, ataxia and retinitis pigmentosa" EXACT [] synonym: "neuropathy, ataxia, retinitis pigmentosa syndrome" EXACT [] xref: GARD:262 xref: MESH:C537396 xref: ORDO:644 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0111274 name: CODAS syndrome alt_id: MIM:600373 def: "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. (DO)" [PMID:25574826 "DO"] synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" EXACT [] synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" EXACT [] synonym: "cerebral, ocular, dental, auricular, skeletal anomalies syndrome" EXACT [] synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" EXACT [] synonym: "LONP1-RELATED CONDITION" EXACT [] xref: GARD:1418 xref: MESH:C536434 xref: NCI:C126744 xref: ORDO:1458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0111275 name: speech-language disorder-1 def: "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. (DO)" [PMID:11586359 "DO", PMID:1934976 "DO"] synonym: "childhood apraxia of speech" EXACT [] synonym: "developmental apraxia of speech" EXACT [] synonym: "FOXP2-RELATED CONDITION" EXACT [] synonym: "SPCH1" EXACT [] synonym: "speech and language disorder with orofacial dyspraxia" EXACT [] synonym: "speech-language disorder type 1" EXACT [] xref: GARD:12889 xref: MIM:602081 xref: ORDO:209908 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060135 ! apraxia is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:92 ! speech disorder [Term] id: DOID:0111276 name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis def: "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)" [PMID:12565911 "DO", PMID:20220442 "DO", PMID:9222196 "DO"] synonym: "ataxia neuropathy spectrum" EXACT [] synonym: "ATAXIA NEUROPATHY SPECTRUM DISORDERS" EXACT [] synonym: "ATAXIA WITH DYSARTHRIA" NARROW [] synonym: "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions" EXACT [] synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY" NARROW [] synonym: "EPM5" EXACT [] synonym: "MIRAS" EXACT [] synonym: "mitochondrial recessive ataxia syndrome" EXACT [] synonym: "progressive myoclonic epilepsy 5" EXACT [] synonym: "SANDO" EXACT [] synonym: "SCAE" NARROW [] synonym: "sensory ataxia neuropathy, dysarthria and ophthalmoplegia" EXACT [] xref: MESH:C537583 xref: MESH:C579922 xref: MIM:607459 xref: MONDO:0011835 xref: OMIA:001467 xref: ORDO:70595 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:539 ! ophthalmoplegia is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:891 ! progressive myoclonus epilepsy is_a: DOID:9001722 ! Dysarthria [Term] id: DOID:0111277 name: mitochondrial trifunctional protein deficiency def: "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. (DO)" [PMID:12754706 "DO", PMID:12838198 "DO", PMID:7738175 "DO"] synonym: "HADHA-RELATED CONDITION" BROAD [] synonym: "HADHA-related disorder" BROAD [] synonym: "Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency" NARROW [] synonym: "Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency" NARROW [] synonym: "Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" NARROW [] synonym: "Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency" NARROW [] synonym: "MTPD" EXACT [] synonym: "TFPD" EXACT [] synonym: "TFP deficiency" EXACT [] synonym: "trifunctional protein deficiency" EXACT [] synonym: "trifunctional protein deficiency with myopathy and neuropathy" RELATED [] xref: GARD:3684 xref: MESH:C566945 xref: MIM:PS609015 xref: NCI:C98991 xref: ORDO:746 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111278 name: histiocytosis-lymphadenopathy plus syndrome alt_id: DOID:9000755 def: "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (DO)" [PMID:20140240 "DO"] synonym: "Asrar Facharzt Haque Syndrome" EXACT [] synonym: "Faisalabad histiocytosis" EXACT [] synonym: "familial Rosai-Dorfman disease" EXACT [] synonym: "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness" EXACT [] synonym: "Histiocytosis with Joint Contractures and Sensorineural Deafness" EXACT [] synonym: "HJCD" EXACT [] synonym: "H SYNDROME" EXACT [] synonym: "Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss" EXACT [] synonym: "PHID" EXACT [] synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" EXACT [] synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome" EXACT [] synonym: "Rosai–Dorfman disease" EXACT [] synonym: "SHML" EXACT [] synonym: "sinus histiocytosis and massive lymphadenopathy" EXACT [] xref: EFO:1000528 xref: GARD:7588 xref: ICDO:9749/3 xref: MESH:C535391 xref: MESH:C538322 xref: MIM:602782 xref: MONDO:0006412 xref: NCI:C36075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9001904 ! Sinus Histiocytosis is_a: DOID:9006836 ! Contracture is_a: DOID:9008513 ! Hoarseness [Term] id: DOID:0111279 name: psoriasis 7 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. (DO)" [PMID:17236132 "DO"] synonym: "IL23R-RELATED CONDITION" BROAD [] synonym: "PSORIASIS 7, SUSCEPTIBILITY TO" RELATED [] synonym: "Psoriasis Susceptibility 7" RELATED [] synonym: "PSORS7" EXACT [] xref: MIM:605606 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111280 name: psoriasis 4 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. (DO)" [PMID:9886260 "DO"] synonym: "PSORIASIS 4, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 4" EXACT [] synonym: "PSORS4" EXACT [] xref: MIM:603935 xref: MONDO:0011387 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111281 name: psoriasis 15 def: "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. (DO)" [PMID:24791904 "DO"] synonym: "AP1S3-RELATED CONDITION" EXACT [] synonym: "PSORS15" EXACT [] synonym: "pustular psoriasis 15, susceptibility to" RELATED [] xref: MIM:616106 xref: MONDO:0014494 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111282 name: psoriasis 5 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. (DO)" [PMID:10573011 "DO"] synonym: "PSORIASIS 5, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 5" EXACT [] synonym: "PSORS5" EXACT [] xref: MIM:604316 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111283 name: psoriasis 3 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q. (DO)" [PMID:8841203 "DO"] synonym: "PSORIASIS 3, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 3" EXACT [] synonym: "PSORS3" EXACT [] xref: MIM:601454 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111284 name: psoriasis 9 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. (DO)" [PMID:12485440 "DO"] synonym: "PSORIASIS 9, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 9" EXACT [] synonym: "PSORS9" EXACT [] xref: MIM:607857 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111285 name: psoriasis 11 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. (DO)" [PMID:17236132 "DO"] synonym: "PSORIASIS 11, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 11" EXACT [] synonym: "PSORS11" EXACT [] xref: MIM:612599 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111286 name: psoriasis 1 def: "A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33. (DO)" [PMID:11841557 "DO"] synonym: "PSORIASIS 1, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 1" EXACT [] synonym: "PSORS1" EXACT [] xref: MIM:177900 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111287 name: psoriasis 13 def: "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. (DO)" [PMID:20953188 "DO"] synonym: "PSORIASIS 13, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 13" EXACT [] synonym: "PSORS13" EXACT [] synonym: "TRAF3IP2-RELATED CONDITION" BROAD [] xref: MIM:614070 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111288 name: psoriasis 8 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. (DO)" [PMID:9259283 "DO"] synonym: "psoriasis 8, susceptibility to" EXACT [] synonym: "psoriasis susceptibility 8" EXACT [] synonym: "PSORS8" EXACT [] xref: MIM:610707 xref: MONDO:0012542 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111289 name: psoriasis 10 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. (DO)" [PMID:14632189 "DO"] synonym: "PSORIASIS 10, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 10" EXACT [] synonym: "PSORS10" EXACT [] xref: MIM:612410 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111290 name: psoriasis 6 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. (DO)" [PMID:10986047 "DO"] synonym: "PSORIASIS 6, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 6" EXACT [] synonym: "PSORS6" EXACT [] xref: MIM:605364 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111291 name: psoriasis 12 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. (DO)" [PMID:18364390 "DO"] synonym: "psoriasis 12, susceptibility to" RELATED [] synonym: "psoriasis susceptibility 12" RELATED [] synonym: "PSORS12" EXACT [] xref: MIM:612950 is_a: DOID:8893 ! psoriasis created_by: rgd creation_date: 2018-03-15T16:23:54Z [Term] id: DOID:0111293 name: generalized epilepsy with febrile seizures plus 4 alt_id: MIM:609800 alt_id: RDO:0013929 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. (DO)" [PMID:15827091 "DO"] synonym: "GEFS+4" EXACT [] synonym: "GEFS+, type 4" EXACT [] synonym: "GEFSP4" EXACT [] synonym: "GEFSP, Type 4" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 4" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 4" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 4" EXACT [] xref: MESH:C565227 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111294 name: generalized epilepsy with febrile seizures plus 2 alt_id: MIM:604403 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. (DO)" [PMID:10742094 "DO"] synonym: "FEB3A" NARROW [] synonym: "GEFS+2" EXACT [] synonym: "GEFS+2 familial febrile seizures 3A" NARROW [] synonym: "GEFS+, type 2" EXACT [] synonym: "GEFSP2" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 2" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 2" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [] xref: MESH:C565810 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111295 name: generalized epilepsy with febrile seizures plus 7 alt_id: MIM:613863 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. (DO)" [PMID:19763161 "DO"] synonym: "familial febrile seizures 3B" NARROW [] synonym: "FEB3B" NARROW [] synonym: "GEFS+7" EXACT [] synonym: "GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B" NARROW [] synonym: "GEFS+, type 7" EXACT [] synonym: "GEFSP7" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 7" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 7" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [] xref: MESH:C567827 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111296 name: generalized epilepsy with febrile seizures plus 10 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. (DO)" [PMID:30351409 "DO"] synonym: "GEFS+10" EXACT [] synonym: "GEFS+, type 10" EXACT [] synonym: "GEFSP10" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 10" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 10" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 10" EXACT [] synonym: "HCN1-RELATED DISORDER" BROAD [] xref: MIM:618482 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111297 name: familial febrile seizures def: "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. (DO)" [PMID:12429594 "DO"] synonym: "familial febrile convulsions" EXACT [] synonym: "FEB" EXACT [] xref: MIM:PS121210 xref: MONDO:0000032 is_a: DOID:9007956 ! Febrile Seizures created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:0111298 name: familial febrile seizures 8 alt_id: MIM:607681 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)" [PMID:8730286 "DO"] synonym: "familial febrile convulsions 8" EXACT [] synonym: "FEB8" EXACT [] synonym: "GABRG2-RELATED CONDITION" BROAD [] synonym: "GEFS+3 familial febrile seizures 8" EXACT [] xref: MESH:C566975 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111299 name: generalized epilepsy with febrile seizures plus 8 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. (DO)" [PMID:19841378 "DO"] synonym: "GEFS+8" EXACT [] synonym: "GEFS+, TYPE 8" EXACT [] synonym: "GEFSP8" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 8" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 8" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 8" EXACT [] xref: MIM:613828 xref: MONDO:0013448 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111300 name: generalized epilepsy with febrile seizures plus 6 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. (DO)" [PMID:18625863 "DO"] synonym: "GEFS+6" EXACT [] synonym: "GEFSP6" EXACT [] synonym: "GEFS, Type 6" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 6" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 6" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 6" EXACT [] xref: MESH:C567371 xref: MIM:612279 xref: MONDO:0012846 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111301 name: generalized epilepsy with febrile seizures plus 9 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. (DO)" [PMID:25362483 "DO"] synonym: "GEFS+9" EXACT [] synonym: "GEFS+, type 9" EXACT [] synonym: "GEFSP9" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 9" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 9" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT [] synonym: "STX1B-related condition" BROAD [] xref: MIM:616172 xref: MONDO:0014517 xref: NCI:C192201 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111302 name: generalized epilepsy with febrile seizures plus 1 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. (DO)" [PMID:9697698 "DO"] synonym: "GEFS+1" EXACT [] synonym: "GEFSP1" EXACT [] synonym: "GEFS, type 1" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 1" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 1" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT [] xref: MESH:C565809 xref: MIM:604233 xref: MONDO:0011416 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus created_by: rgd creation_date: 2017-12-11T00:00:00Z [Term] id: DOID:0111303 name: familial febrile seizures 9 alt_id: MIM:611634 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. (DO)" [PMID:17452582 "DO"] synonym: "familial febrile convulsions 9" EXACT [] synonym: "FEB9" EXACT [] xref: MESH:C566901 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111304 name: familial febrile seizures 10 alt_id: MIM:612637 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. (DO)" [PMID:18830713 "DO"] synonym: "familial febrile convulsions 10" EXACT [] synonym: "FEB10" EXACT [] xref: MESH:C567218 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111305 name: familial febrile seizures 4 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. (DO)" [PMID:12402266 "DO"] synonym: "ADGRV1-RELATED CONDITION" BROAD [] synonym: "ADGRV1-RELATED DISORDER" BROAD [] synonym: "familial febrile convulsions 4" EXACT [] synonym: "FEB4" EXACT [] xref: MESH:C565788 xref: MIM:604352 xref: MONDO:0011443 is_a: DOID:0111297 ! familial febrile seizures created_by: slaulede creation_date: 2018-07-10T17:55:06Z [Term] id: DOID:0111306 name: familial febrile seizures 5 alt_id: MIM:609255 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. (DO)" [PMID:12429594 "DO"] synonym: "familial febrile convulsions 5" EXACT [] synonym: "FEB5" EXACT [] xref: MESH:C563762 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111307 name: familial febrile seizures 1 alt_id: MIM:121210 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. (DO)" [PMID:8730286 "DO"] synonym: "familial febrile convulsions 1" EXACT [] synonym: "familial seizures 1" EXACT [] synonym: "FEB1" EXACT [] xref: MESH:C565162 is_a: DOID:0111297 ! familial febrile seizures created_by: rgd creation_date: 2018-01-17T16:37:25Z [Term] id: DOID:0111308 name: familial febrile seizures 11 def: "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. (DO)" [PMID:21922598 "DO"] synonym: "CPA6-RELATED CONDITION" BROAD [] synonym: "familial febrile convulsions 11" EXACT [] synonym: "FEB11" EXACT [] xref: MIM:614418 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111309 name: familial febrile seizures 6 alt_id: MIM:609253 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. (DO)" [PMID:15557493 "DO"] synonym: "familial febrile convulsions 6" EXACT [] synonym: "FEB6" EXACT [] xref: MESH:C563764 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111310 name: familial febrile seizures 2 alt_id: MIM:602477 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. (DO)" [PMID:9384604 "DO"] synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17" RELATED [] synonym: "familial febrile convulsions 2" EXACT [] synonym: "FEB2" EXACT [] synonym: "HCN2-RELATED CONDITION" EXACT [] synonym: "HCN2 RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" RELATED [] xref: MESH:C566541 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111311 name: familial febrile seizures 7 alt_id: MIM:611515 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation. (DO)" [PMID:17054683 "DO"] synonym: "familial febrile convulsions 7" EXACT [] synonym: "FEB7" EXACT [] xref: MESH:C566929 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111324 name: juvenile absence epilepsy 1 def: "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. (DO)" [PMID:14663045 "DO"] synonym: "EJA1" EXACT [] synonym: "JAE1" EXACT [] synonym: "juvenile absence epilepsy, susceptibility to, 1" RELATED [] xref: MIM:607631 is_a: DOID:0060172 ! juvenile absence epilepsy [Term] id: DOID:0111325 name: juvenile myoclonic epilepsy 10 def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. (DO)" [PMID:29539279 "DO"] synonym: "CILK1-RELATED CONDITION" BROAD [] synonym: "EJM10" EXACT [] xref: MIM:617924 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111326 name: juvenile myoclonic epilepsy 3 def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. (DO)" [PMID:12830434 "DO"] synonym: "EJM3" EXACT [] synonym: "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3" EXACT [] xref: MIM:608816 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111327 name: juvenile myoclonic epilepsy 4 def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. (DO)" [PMID:17431681 "DO"] synonym: "EJM4" EXACT [] synonym: "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4" EXACT [] xref: MIM:611364 xref: MONDO:0012655 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111328 name: juvenile myoclonic epilepsy 9 def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. (DO)" [PMID:20467754 "DO"] synonym: "EJM9" EXACT [] synonym: "Epilepsy, juvenile myoclonic, susceptibility to, 9" EXACT [] xref: MIM:614280 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111329 name: pyridoxamine 5'-phosphate oxidase deficiency alt_id: MIM:610090 def: "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. (DO)" [PMID:24658933 "DO"] synonym: "PNPOD" EXACT [] synonym: "PNPO deficiency" EXACT [] synonym: "PNPO-Related Neonatal Epileptic Encephalopathy" EXACT [] synonym: "Pyridoxal 5'-Phosphate-Dependent Epilepsy" EXACT [] synonym: "pyridoxal phosphate-dependent seizures" EXACT [] synonym: "pyridoxal phosphate-responsive seizures" EXACT [] synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [] synonym: "Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency" EXACT [] synonym: "pyridoxine-5'-phosphate oxidase deficiency" EXACT [] synonym: "pyridoxine-resistant seizures, PLP-sensitive" EXACT [] xref: GARD:10730 xref: MESH:C566449 xref: ORDO:79096 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9003676 ! Brain Hypoxia-Ischemia is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:0111330 name: combined saposin deficiency alt_id: MIM:611721 def: "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. (DO)" [PMID:11309366 "DO", PMID:1371116 "DO"] synonym: "combined SAP deficiency" EXACT [] synonym: "encephalopathy due to prosaposin deficiency" EXACT [] synonym: "prosaposin deficiency" EXACT [] synonym: "PSAPD" EXACT [] synonym: "SPHINGOLIPID ACTIVATOR PROTEIN 1 DEFICIENCY" EXACT [] xref: MESH:C567125 xref: ORDO:139406 is_a: DOID:10581 ! metachromatic leukodystrophy [Term] id: DOID:0111331 name: intellectual disability-severe speech delay-mild dysmorphism syndrome def: "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. (DO)" [PMID:24214399 "DO"] synonym: "FOXP1 haploinsufficiency" EXACT [] synonym: "FOXP1-RELATED CONDITION" EXACT [] synonym: "FOXP1-Related Neurodevelopmental Disorder" EXACT [] synonym: "FOXP1 syndrome" EXACT [] synonym: "IDDLA" EXACT [] synonym: "intellectual developmental disorder with language impairment and with or without autistic features" EXACT [] synonym: "intellectual disability with language impairment" EXACT [] synonym: "intellectual disability with language impairment and autistic features" NARROW [] synonym: "mental retardation with language impairment and autistic features" NARROW [] synonym: "mental retardation with language impairment and with or without autistic features" EXACT [] xref: EFO:1001500 xref: GARD:12501 xref: MIM:613670 xref: MONDO:0013352 xref: ORDO:391372 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:9005466 ! Language Development Disorders [Term] id: DOID:0111332 name: Pitt-Hopkins-like syndrome 2 def: "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. (DO)" [PMID:19896112 "DO", PMID:22617343 "DO"] synonym: "NRXN1-related condition" BROAD [] synonym: "NRXN1-RELATED DISORDER" BROAD [] synonym: "NRXN-related disorder" BROAD [] synonym: "PTHSL2" EXACT [] xref: MIM:614325 xref: MONDO:0013690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:0060488 ! Pitt-Hopkins syndrome [Term] id: DOID:0111333 name: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome def: "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. (DO)" [PMID:22101682 "DO"] synonym: "CMYO10A" EXACT [] synonym: "CMYP10A" EXACT [] synonym: "congenital myopathy 10A" EXACT [] synonym: "congenital myopathy 10A, severe variant" EXACT [] synonym: "EMARDD" EXACT [] synonym: "MEGF10-related myopathy" EXACT [] synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" EXACT [] xref: GARD:12199 xref: MIM:614399 xref: MONDO:0013731 xref: ORDO:439212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9004659 ! Respiration Disorders is_a: DOID:9005219 ! Abnormal Reflexes [Term] id: DOID:0111334 name: congenital leptin deficiency def: "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. (DO)" [PMID:10523015 "DO"] synonym: "LEPD" EXACT [] synonym: "LEP-related condition" BROAD [] synonym: "leptin deficiency" EXACT [] synonym: "leptin deficiency or dysfunction" EXACT [] synonym: "leptin dysfunction" EXACT [] synonym: "nonsyndromic morbid obesity 1" EXACT [] synonym: "obesity due to congenital leptin deficiency" EXACT [] xref: MIM:614962 xref: MONDO:0013991 xref: ORDO:66628 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:11981 ! morbid obesity is_a: DOID:225 ! syndrome is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111335 name: myopathy with extrapyramidal signs def: "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. (DO)" [PMID:24336167 "DO"] synonym: "MICU1-RELATED CONDITION" EXACT [] synonym: "MPXPS" EXACT [] synonym: "proximal myopathy with extrapyramidal signs" EXACT [] xref: GARD:12978 xref: MIM:615673 xref: ORDO:401768 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:423 ! myopathy is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0111336 name: craniofacial-deafness-hand syndrome alt_id: MIM:122880 def: "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. (DO)" [PMID:6859126 "DO", PMID:8664898 "DO"] synonym: "CDHS" EXACT [] synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [] xref: GARD:1571 xref: MESH:C536453 xref: ORDO:1529 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111337 name: Jackson-Weiss syndrome alt_id: MIM:123150 def: "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)" [PMID:1271196 "DO", PMID:7874170 "DO"] synonym: "acrocephalosyndactyly Jackson Weiss type" EXACT [] synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" EXACT [] synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [] synonym: "enlarged great toes and craniofacial abnormalities" EXACT [] synonym: "JWS" EXACT [] xref: GARD:6796 xref: MESH:C537559 xref: NCI:C123814 xref: ORDO:1540 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:0111338 name: isolated elevated serum creatine phosphokinase levels def: "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. (DO)" [https://ghr.nlm.nih.gov/condition/isolated-hyperckemia "DO", PMID:10746614 "DO"] synonym: "CPK, ELEVATED SERUM" EXACT [] synonym: "Creatine Phosphokinase, Elevated Serum" EXACT [] synonym: "idiopathic hyperCKemia" EXACT [] synonym: "isolated hyperCKemia" EXACT [] xref: MIM:123320 xref: MONDO:0016103 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111339 name: Vohwinkel syndrome alt_id: MIM:124500 def: "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)" [PMID:10369869 "DO"] synonym: "congenital deafness with keratopachydermia and constrictions fo fingers and toes" EXACT [] synonym: "congenital deafness with keratopachydermia and constrictions of fingers and toes" EXACT [] synonym: "keratoderma hereditarium mutilans" EXACT [] synonym: "KHM" EXACT [] synonym: "mutilating keratoderma" EXACT [] synonym: "mutilating keratoderma of Vohwinkel" EXACT [] synonym: "mutilating keratoderma plus deafness" EXACT [] synonym: "palmoplantar keratoderma mutilans" EXACT [] synonym: "palmoplantar keratoderma mutilans Vohwinkel" EXACT [] synonym: "PPK mutilans and deafness" EXACT [] synonym: "PPK mutilans Vohwinkel" EXACT [] synonym: "VOWNKL" EXACT [] xref: MESH:C536457 xref: ORDO:3092 xref: ORDO:494 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:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0111340 name: dominant optic atrophy plus syndrome def: "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [PMID:12566046 "DO", PMID:20157015 "DO"] synonym: "AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME" EXACT [] synonym: "DOA+" EXACT [] synonym: "OPA1-RELATED OPTIC ATROPHY WITH OR WITHOUT EXTRAOCULAR FEATURES" EXACT [] synonym: "optic atrophy 1 and deafness" EXACT [] synonym: "optic atrophy plus syndrome" EXACT [] synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [] xref: GARD:5243 xref: MESH:C537124 xref: MIM:125250 xref: MONDO:0007429 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111341 name: primary failure of tooth eruption alt_id: MIM:125350 def: "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)" [PMID:19061984 "DO", PMID:29544499 "DO"] synonym: "dental noneruption" EXACT [] synonym: "PFE" EXACT [] synonym: "Posterior Openbite, Familial" EXACT [] synonym: "POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL" EXACT [] synonym: "Primary Failure of Eruption, Nonsyndromic" EXACT [] synonym: "Primary Retention of Teeth" EXACT [] synonym: "unerupted second primary molar" EXACT [] xref: MESH:C565114 xref: ORDO:412206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1091 ! tooth disease [Term] id: DOID:0111342 name: dermatopathia pigmentosa reticularis alt_id: MIM:125595 def: "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)" [PMID:1303619 "DO", PMID:16960809 "DO"] synonym: "DPR" EXACT [] xref: GARD:8550 xref: MESH:C535374 xref: ORDO:86920 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease is_a: DOID:9003984 ! Hyperpigmentation is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:987 ! alopecia [Term] id: DOID:0111343 name: lateral meningocele syndrome def: "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. (DO)" [PMID:25394726 "DO"] synonym: "Lehman syndrome" EXACT [] synonym: "LMNS" EXACT [] synonym: "LMS" EXACT [] xref: GARD:9873 xref: MESH:C537878 xref: MIM:130720 xref: MONDO:0007537 xref: ORDO:2789 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1088 ! meningocele is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-12-01T00:00:00Z [Term] id: DOID:0111344 name: myeloproliferative disorder with eosinophilia alt_id: MIM:131440 def: "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. (DO)" [PMID:12181402 "DO", PMID:8168137 "DO"] synonym: "atypical Philadelphia-negative chronic myeloid leukemia" EXACT [] synonym: "chronic myeloproliferative disorder with eosinophilia" EXACT [] synonym: "Clonal Eosinophilia with Chronic Myeloproliferative Disorder" EXACT [] synonym: "EMP" EXACT [] synonym: "Eosinophils, Malignant Proliferation of" EXACT [] synonym: "MPE" EXACT [] synonym: "PDGFRB-associated chronic eosinophilic leukemia" EXACT [] synonym: "primary eosinophilia with chronic myeloproliferative disorder" EXACT [] xref: MESH:C565054 xref: MESH:C580365 is_a: DOID:0080188 ! chronic myelomonocytic leukemia is_a: DOID:2226 ! myeloproliferative neoplasm is_a: DOID:9001371 ! Eosinophilia is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:0111345 name: transient bullous dermolysis of the newborn def: "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. (DO)" [PMID:16225626 "DO", PMID:9406826 "DO"] synonym: "DEB-BDN" EXACT [] synonym: "DEB, bullous dermolysis of the newborn" EXACT [] synonym: "dystrophic epidermolysis bullosa, dominant neonatal" EXACT [] synonym: "dystrophic epidermolysis bullosa, neonatal" EXACT [] synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" EXACT [] synonym: "epidermolysis bullosa dystrophica, neonatal form" EXACT [] synonym: "TBDN" EXACT [] xref: GARD:10010 xref: MESH:C536979 xref: MIM:131705 xref: MONDO:0007548 xref: ORDO:79411 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0111346 name: epidermolysis bullosa simplex with mottled pigmentation def: "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)" [PMID:421361 "DO", PMID:8799157 "DO"] synonym: "EBS2F" EXACT [] synonym: "EBSMP" EXACT [] synonym: "epidermolysis bullosa simplex 2F with mottled pigmentation" EXACT [] synonym: "epidermolysis bullosa simplex-MP" EXACT [] synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" EXACT [] synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" EXACT [] xref: GARD:9737 xref: MESH:C535959 xref: MIM:131960 xref: MONDO:0007556 xref: ORDO:79397 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0111347 name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails def: "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. (DO)" [PMID:5910871 "DO", PMID:8618021 "DO"] synonym: "EBD, Bart type" EXACT [] synonym: "epidermolysis bullosa dystrophica, Bart type" EXACT [] xref: MESH:C562638 xref: MIM:132000 xref: MONDO:0007557 is_a: DOID:0080015 ! physical disorder is_a: DOID:0080224 ! autosomal dominant dystrophic epidermolysis bullosa [Term] id: DOID:0111348 name: multiple epiphyseal dysplasia with myopia and deafness alt_id: MIM:132450 def: "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [PMID:699354 "DO", PMID:9800905 "DO"] synonym: "EDMMD" EXACT [] synonym: "multiple epiphyseal dysplasia, Beighton type" EXACT [] synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [] synonym: "multiple epiphyseal dysplasia with myopia and conductive deafness" EXACT [] xref: MESH:C565046 xref: ORDO:166011 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11830 ! myopia is_a: DOID:12721 ! multiple epiphyseal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:0111349 name: hereditary desmoid disease alt_id: MIM:135290 def: "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. (DO)" [PMID:10782927 "DO"] synonym: "desmoid tumor caused by somatic mutation" EXACT [] synonym: "familial infiltrative fibromatosis" EXACT [] synonym: "FIF" EXACT [] xref: MESH:C535944 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:9003078 ! Abdominal Neoplasms is_a: DOID:9003291 ! Aggressive Fibromatosis [Term] id: DOID:0111350 name: Laurin-Sandrow syndrome alt_id: MIM:135750 def: "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [PMID:24456159 "DO", PMID:4314818 "DO"] synonym: "duplication of fibula and ulna with absence of tibia and radius" EXACT [] synonym: "fibula ulna duplication, tibia radius absence" EXACT [] synonym: "Laurin-Sandrow Syndrome, Segmental" EXACT [] synonym: "LSS" EXACT [] synonym: "miccor hands and feet with nasal defects" EXACT [] synonym: "MIP" EXACT [] synonym: "MIPduplication of fibuland ulna with absence of tibia and radius" EXACT [] synonym: "mirror hands and feets-nasal defects syndrome" EXACT [] synonym: "mirror hands and feet with nasal defects" EXACT [] synonym: "mirror-image polydactyly" EXACT [] synonym: "Sandrow syndrome" EXACT [] synonym: "tetramelic mirror-image polydactyly" EXACT [] synonym: "TMIP" EXACT [] xref: GARD:155 xref: MESH:C535689 xref: ORDO:2378 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000545 ! Ectromelia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111351 name: D-2-hydroxyglutaric aciduria 1 def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)" [PMID:15609246 "DO"] synonym: "D2HGA1" EXACT [] synonym: "D2HGDH-RELATED CONDITION" EXACT [] xref: MIM:600721 is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111352 name: D-2-hydroxyglutaric aciduria 2 def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)" [PMID:20847235 "DO"] synonym: "D2HGA2" EXACT [] synonym: "IDH2-RELATED CONDITION" EXACT [] xref: MIM:613657 is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria is_a: DOID:0050736 ! autosomal dominant disease created_by: slaulede creation_date: 2019-07-08T10:32:00Z [Term] id: DOID:0111353 name: arthrogryposis, renal dysfunction, and cholestasis 1 alt_id: DOID:9000266 def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. (DO)" [PMID:15052268 "DO"] synonym: "ARCS1" EXACT [] synonym: "biliary malformation with renal tubular insufficiency" EXACT [] synonym: "cholestatic jaundice and renal tubular insufficiency" EXACT [] synonym: "Lutz-Richner-Landolt syndrome" EXACT [] synonym: "renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies" EXACT [] xref: MESH:C537726 xref: MIM:208085 xref: MONDO:0008822 is_a: DOID:0050763 ! ARC syndrome is_a: DOID:9004898 ! Jaundice is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111354 name: arthrogryposis, renal dysfunction, and cholestasis 2 def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. (DO)" [PMID:20190753 "DO"] synonym: "ARCS2" EXACT [] synonym: "VIPAS39-related condition" BROAD [] xref: MIM:613404 xref: MONDO:0013255 is_a: DOID:0050763 ! ARC syndrome [Term] id: DOID:0111355 name: hydrolethalus syndrome 1 alt_id: MIM:236680 def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. (DO)" [PMID:15843405 "DO"] synonym: "HLS1" EXACT [] synonym: "HYLS1-RELATED CONDITION" EXACT [] xref: MESH:C565504 is_a: DOID:0050779 ! hydrolethalus syndrome [Term] id: DOID:0111356 name: hydrolethalus syndrome 2 def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. (DO)" [PMID:21552264 "DO"] synonym: "HLS2" EXACT [] xref: MIM:614120 is_a: DOID:0050779 ! hydrolethalus syndrome [Term] id: DOID:0111357 name: adermatoglyphia alt_id: MIM:136000 def: "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. (DO)" [PMID:21820097 "DO"] synonym: "absence of fingerprints" EXACT [] synonym: "ADERM" EXACT [] synonym: "ADG" EXACT [] synonym: "Congenital absence of fingerprints" EXACT [] synonym: "Immigration delay disease" EXACT [] synonym: "isolated congenital adermatoglyphia" EXACT [] xref: GARD:12550 xref: MESH:C565010 xref: ORDO:289465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111358 name: Floating-Harbor syndrome def: "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. (DO)" [https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome "DO", PMID:22265015 "DO", PMID:7588969 "DO"] synonym: "FLHS" EXACT [] synonym: "Leisti-Hollander-Rimoin syndrome" EXACT [] synonym: "Pelletier-Leisti syndrome" EXACT [] synonym: "SRCAP-related condition" BROAD [] xref: GARD:6455 xref: MESH:C537062 xref: MIM:136140 xref: MONDO:0007621 xref: NCI:C175241 xref: ORDO:2044 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1657 ! ventricular septal defect is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111359 name: large congenital melanocytic nevus def: "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. (DO)" [PMID:18671780 "DO", PMID:23392294 "DO"] synonym: "CMNS" EXACT [] synonym: "congenital melanocytic nevus syndrome, somatic" EXACT [] synonym: "congenital pigmented nevus" EXACT [] synonym: "Giant congenital melanocytic nevus" EXACT [] synonym: "GIANT CONGENITAL PIGMENTED NEVUS" EXACT [] synonym: "giant pigmented hairy nevus" EXACT [] synonym: "GMN" EXACT [] synonym: "GPHN" EXACT [] synonym: "LCMN" EXACT [] synonym: "MELANOCYTIC NEVUS SYNDROME, CONGENITAL" EXACT [] synonym: "nevus spilus" NARROW [] synonym: "pigmented moles" NARROW [] synonym: "spitz nevus" NARROW [] xref: MESH:C536819 xref: MIM:137550 xref: MONDO:0044792 xref: NCI:C3944 xref: NCI:C4234 xref: ORDO:626 is_a: DOID:0080015 ! physical disorder is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:0111360 name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome alt_id: MIM:137940 def: "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)" [PMID:24697860 "DO"] synonym: "cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis" EXACT [] synonym: "glomerulonephritis, sparse hair, telangiectases" EXACT [] synonym: "glomerulonephritis with sparse hair and telangiectases" EXACT [] synonym: "HLT-renal defect syndrome" EXACT [] synonym: "HLTRS" EXACT [] synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [] synonym: "SOX18-RELATED CONDITION" BROAD [] synonym: "telangiectatic membranoproliferative glomerulonephritis" EXACT [] xref: MESH:C536825 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111361 ! hypotrichosis-lymphedema-telangiectasia syndrome is_a: DOID:225 ! syndrome is_a: DOID:2920 ! membranoproliferative glomerulonephritis is_a: DOID:987 ! alopecia [Term] id: DOID:0111361 name: hypotrichosis-lymphedema-telangiectasia syndrome alt_id: MIM:607823 def: "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)" [PMID:12740761 "DO"] synonym: "HLTS" EXACT [] synonym: "SOX18-RELATED CONDITION" BROAD [] xref: MESH:C564327 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1272 ! telangiectasis is_a: DOID:225 ! syndrome is_a: DOID:4535 ! hypotrichosis is_a: DOID:4977 ! lymphedema [Term] id: DOID:0111362 name: hawkinsinuria alt_id: DOID:9008030 alt_id: MIM:140350 def: "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. (DO)" [PMID:11073718 "DO"] synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [] synonym: "4-HPPD deficiency" EXACT [] synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [] xref: GARD:5668 xref: MESH:C535845 xref: ORDO:2118 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9275 ! tyrosinemia [Term] id: DOID:0111363 name: Heinz body anemia alt_id: MIM:140700 def: "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. (DO)" [PMID:14184033 "DO", PMID:3997544 "DO", PMID:8704193 "DO"] synonym: "Heinz Body Anemias" EXACT [] synonym: "Heinz Body Hemolytic Anemia" EXACT [] synonym: "HEMOGLOBIN BRISTOL" RELATED [] synonym: "Hemoglobin Tacoma" RELATED [] xref: GARD:10718 xref: MESH:C563030 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:0111364 name: Alzheimer's disease 9 alt_id: MIM:608907 def: "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. (DO)" [PMID:21460840 "DO"] synonym: "ABCA7-RELATED CONDITION" EXACT [] synonym: "AD9" EXACT [] synonym: "Alzheimer's disease 9, late onset" EXACT [] synonym: "Alzheimer disease 9" EXACT [] synonym: "Alzheimer Disease 9, Late-Onset" EXACT [] synonym: "Alzheimer disease 9, susceptibility to" RELATED [] xref: MESH:C563834 xref: NCI:C206083 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0111365 name: benign familial hematuria def: "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. (DO)" [PMID:8787673 "DO"] synonym: "BFH" EXACT [] synonym: "familial hematuria" EXACT [] synonym: "MICROSCOPIC HEMATURIA" EXACT [] synonym: "Thin-Basement-Membrane Nephropathy" EXACT [] synonym: "thin membrane nephropathy" EXACT [] synonym: "TMN" EXACT [] xref: MESH:C562476 xref: MIM:PS141200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000363 ! Hematuria [Term] id: DOID:0111366 name: familial hepatic adenoma alt_id: MIM:142330 def: "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. (DO)" [PMID:207987 "DO"] synonym: "familial hepatic adenomas" EXACT [] synonym: "familial liver cell adenomas" EXACT [] xref: MESH:C564190 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050868 ! hepatocellular adenoma [Term] id: DOID:0111367 name: Beukes hip dysplasia def: "An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. (DO)" [PMID:26428751 "DO"] synonym: "Beukes familial hip dysplasia" EXACT [] synonym: "BFHD" EXACT [] synonym: "BHD" EXACT [] synonym: "Cilliers-Beighton syndrome" EXACT [] synonym: "Hip Dysplasia, Beukes Type" EXACT [] synonym: "premature degenerative osteoarthropathy of hip" EXACT [] synonym: "premature degenerative osteoarthropathy of the hip" EXACT [] xref: GARD:2690 xref: MESH:C564185 xref: MIM:142669 xref: MONDO:0007726 xref: ORDO:2114 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005560 ! Congenital Hip Dislocation relationship: has_component DOID:8398 ! osteoarthritis [Term] id: DOID:0111368 name: cholesterol-ester transfer protein deficiency def: "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. (DO)" [PMID:168823 "DO"] synonym: "CEPT deficiency" EXACT [] synonym: "CETP deficiency" EXACT [] synonym: "Cholesteryl Ester Transfer Protein Deficiency" EXACT [] synonym: "familial hyperalphalipoproteinemia" EXACT [] synonym: "hyperalphalipoproteinemia" EXACT [] xref: MESH:C564591 xref: MONDO:0007744 xref: ORDO:79506 is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:0111369 name: hyperalphalipoproteinemia 1 def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. (DO)" [PMID:2215607 "DO", PMID:6738363 "DO"] synonym: "CETP deficiency" EXACT [] synonym: "CETP-RELATED CONDITION" EXACT [] synonym: "HALP1" EXACT [] xref: MIM:143470 xref: NCI:C128806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency [Term] id: DOID:0111370 name: apolipoprotein C-III deficiency alt_id: MIM:614028 def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. (DO)" [PMID:2022742 "DO"] synonym: "APOC3-RELATED CONDITION" EXACT [] synonym: "HALP2" EXACT [] synonym: "hyperalphalipoproteinemia 2" EXACT [] xref: MESH:C566270 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency [Term] id: DOID:0111371 name: isolated hyperchlorhidrosis def: "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. (DO)" [https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis "DO", PMID:21184099 "DO"] synonym: "CA12-RELATED CONDITION" EXACT [] synonym: "carbonic anhydrase XII deficiency" EXACT [] synonym: "HYCHL" EXACT [] xref: MIM:143860 xref: ORDO:542657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9004062 ! Hyperhidrosis [Term] id: DOID:0111373 name: familial progressive hyperpigmentation with or without hypopigmentation alt_id: MIM:145250 def: "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. (DO)" [PMID:19375057 "DO", PMID:21368769 "DO"] synonym: "familial progressive hyperpigmentation" EXACT [] synonym: "familial progressive hyperpigmentation, 2" NARROW [] synonym: "FPH2" NARROW [] synonym: "FPHH" EXACT [] synonym: "melanosis universalis hereditaria" EXACT [] synonym: "MUH" EXACT [] xref: MESH:C564163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:0111374 name: selective pituitary thyroid hormone resistance def: "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. (DO)" [PMID:6798060 "DO", PMID:8040303 "DO"] synonym: "familial hyperthyroidism due to inappropriate thyrotropin secretion" EXACT [] synonym: "pituitary resistance to thyroid hormone" EXACT [] synonym: "PRTH" EXACT [] synonym: "RESISTANCE TO THYROID HORMONE" BROAD [] synonym: "RTH" BROAD [] synonym: "selective pituitary resistance to thyroid hormone" EXACT [] synonym: "THRB-RELATED CONDITION" BROAD [] xref: MESH:C564154 xref: MIM:145650 xref: MONDO:0007784 xref: ORDO:165994 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:0111375 name: fetal akinesia deformation sequence syndrome def: "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (DO)" [PMID:19261599 "DO", PMID:22482962 "DO", PMID:30498368 "DO"] synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [] synonym: "FADS" EXACT [] synonym: "fetal akinesia deformation sequence" EXACT [] synonym: "foetal akinesia deformation sequence syndrome" EXACT [] synonym: "foetal akinesia sequence" EXACT [] synonym: "Pena-Shokeir syndrome type 1" EXACT [] xref: GARD:9634 xref: MIM:PS208150 xref: NCI:C129071 xref: ORDO:994 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:0111376 name: fetal akinesia deformation sequence syndrome 3 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)" [PMID:19261599 "DO"] synonym: "DOK7-related condition" BROAD [] synonym: "FADS3" EXACT [] synonym: "fetal akinesia deformation sequence 3" EXACT [] xref: MIM:618389 xref: MONDO:0100103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111377 name: fetal akinesia deformation sequence syndrome 1 alt_id: MIM:208150 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. (DO)" [PMID:25537362 "DO"] synonym: "arthrogryposis multiplex congenita, pulmonary hypoplasia" EXACT [] synonym: "Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings" EXACT [] synonym: "Arthrogryposis multiplex congenita with pulmonary hypoplasia" EXACT [] synonym: "FADS1" EXACT [] synonym: "Fetal Akinesia Deformation Sequence 1" EXACT [] synonym: "Fetal akinesia sequence" EXACT [] synonym: "Lethal Pena-Shokeir 1 syndrome" EXACT [] synonym: "MUSK-RELATED CONDITION" BROAD [] synonym: "Pena Shokeir Syndrome, Type 1" EXACT [] synonym: "Pena-Shokeir syndrome, type I" EXACT [] synonym: "RAPSN-related disorder" BROAD [] synonym: "RAPSN-related disorders" BROAD [] xref: MESH:C536647 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111378 name: fetal akinesia deformation sequence syndrome 2 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. (DO)" [PMID:18179903 "DO"] synonym: "FADS2" EXACT [] synonym: "fetal akinesia deformation sequence 2" EXACT [] xref: MIM:618388 xref: MONDO:0100102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111379 name: fetal akinesia deformation sequence syndrome 4 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. (DO)" [PMID:30543681 "DO"] synonym: "FADS4" EXACT [] synonym: "fetal akinesia deformation sequence 4" EXACT [] synonym: "NUP88-RELATED CONDITION" EXACT [] xref: MIM:618393 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111380 name: solitary median maxillary central incisor def: "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. (DO)" [PMID:11471164 "DO"] synonym: "fused incisors" EXACT [] synonym: "single central maxillary incisor" EXACT [] synonym: "single median maxillary central incisor" EXACT [] synonym: "single upper central incisor" EXACT [] synonym: "SMMCI" EXACT [] synonym: "SMMCI syndrome" EXACT [] synonym: "solitary median maxillary central incisor syndrome" EXACT [] xref: GARD:4877 xref: MESH:C537342 xref: MIM:147250 xref: MONDO:0007819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13714 ! anodontia [Term] id: DOID:0111381 name: IVIC syndrome def: "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. (DO)" [PMID:17256792 "DO", PMID:7395922 "DO"] synonym: "Instituto Venezolano de Investigaciones Cientificas syndrome" EXACT [] synonym: "oculo-oto-radial syndrome" EXACT [] synonym: "oculootoradial syndrome" EXACT [] synonym: "OORS" EXACT [] synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [] synonym: "SALL4-related disorder" BROAD [] synonym: "SALL4-related spectrum disorder" BROAD [] synonym: "SALL4-related spectrum disorders" BROAD [] xref: GARD:269 xref: MESH:C535544 xref: MIM:147750 xref: MONDO:0007836 xref: ORDO:2307 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10488 ! imperforate anus is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006380 ! Bilateral Hearing Loss [Term] id: DOID:0111382 name: ischiocoxopodopatellar syndrome alt_id: MIM:147891 def: "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. (DO)" [PMID:11303519 "DO", PMID:15106123 "DO"] synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" EXACT [] synonym: "coxopodipatellar syndrome" EXACT [] synonym: "coxo-podo-patellar syndrome" EXACT [] synonym: "coxopodopatellar syndrome" EXACT [] synonym: "ICPPS" EXACT [] synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [] synonym: "ischiopatellar dysplasia" EXACT [] synonym: "patella aplasia, coxa vara, and tarsal synostosis" EXACT [] synonym: "patella aplasia, coxa vara, tarsal synostosis" EXACT [] synonym: "Scott-Taor syndrome" EXACT [] synonym: "small patella syndrome" EXACT [] synonym: "SPS" EXACT [] synonym: "TBX4-RELATED CONDITION" BROAD [] xref: GARD:3030 xref: MESH:C535540 xref: MESH:C536307 xref: NCI:C222354 xref: ORDO:1509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11971 ! synostosis is_a: DOID:9005226 ! Coxa Vara [Term] id: DOID:0111383 name: autosomal dominant keratitis alt_id: MIM:148190 def: "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [PMID:7668281 "DO"] synonym: "dominantly inherited keratitis" EXACT [] synonym: "hereditary keratitis" EXACT [] xref: GARD:3089 xref: MESH:C537022 xref: ORDO:2334 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4677 ! keratitis [Term] id: DOID:0111384 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. (DO)" [PMID:23455423 "DO"] synonym: "HNRNPA2B1-RELATED CONDITION" BROAD [] synonym: "IBMPFD2" EXACT [] synonym: "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2" EXACT [] synonym: "MSP2" EXACT [] synonym: "MULTISYSTEM PROTEINOPATHY 2" EXACT [] xref: MIM:615422 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111385 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. (DO)" [PMID:15034582 "DO"] synonym: "IBMPFD1" EXACT [] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" EXACT [] synonym: "MSP1" EXACT [] synonym: "multisystem proteinopathy 1" EXACT [] xref: MIM:167320 xref: NCI:C122663 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111386 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. (DO)" [PMID:23455423 "DO"] synonym: "IBMPFD3" EXACT [] synonym: "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3" EXACT [] synonym: "MSP3" EXACT [] synonym: "MULTISYSTEM PROTEINOPATHY 3" EXACT [] xref: MIM:615424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111387 name: familial isolated hypoparathyroidism def: "A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. (DO)" [PMID:2212001 "DO"] synonym: "FIH" EXACT [] synonym: "hypoparathyroidism, autosomal dominant" NARROW [] synonym: "hypoparathyroidism, autosomal recessive" NARROW [] xref: GARD:2910 xref: MESH:C537156 xref: MIM:PS146200 xref: MONDO:0016390 xref: ORDO:2238 is_a: DOID:11199 ! hypoparathyroidism [Term] id: DOID:0111388 name: X-linked hypoparathyroidism alt_id: MIM:307700 def: "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. (DO)" [PMID:14431322 "DO", PMID:9832036 "DO"] synonym: "agenesis of parathyroid glands" EXACT [] synonym: "HYPX" EXACT [] xref: MESH:C562782 xref: MESH:C563238 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111387 ! familial isolated hypoparathyroidism [Term] id: DOID:0111389 name: mucopolysaccharidosis Ih/s def: "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)" [PMID:10466419 "DO", PMID:2128891 "DO", PMID:7550242 "DO"] synonym: "MPS1H/S" EXACT [] synonym: "MPS1-HS" EXACT [] synonym: "MPSIH/S" EXACT [] synonym: "mucopolysaccharidosis, MPS-I-H/S" EXACT [] synonym: "Mucopolysaccharidosis type 1H/S" EXACT [] synonym: "Mucopolysaccharidosis Type Ih S" EXACT [] synonym: "mucopolysaccharidosis type Ihs" EXACT [] xref: GARD:12560 xref: ICD10CM:E76.02 xref: MIM:607015 xref: MONDO:0011759 xref: NCI:C122782 xref: ORDO:93476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12802 ! mucopolysaccharidosis I [Term] id: DOID:0111390 name: mucopolysaccharidosis Ih alt_id: MIM:607014 def: "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)" [PMID:3124802 "DO", PMID:7550242 "DO"] synonym: "dysostosis multiplex" EXACT [] synonym: "dysostosis multiplex syndrome" EXACT [] synonym: "Gargoylism" EXACT [] synonym: "Gargoylisms" EXACT [] synonym: "Hurler's Disease" EXACT [] synonym: "Hurler's Syndrome" EXACT [] synonym: "Hurler Disease" EXACT [] synonym: "Hurler disease MPS type 1H" EXACT [] synonym: "Hurler Syndrome" EXACT [] synonym: "Hurler Syndrome Gargoylism" EXACT [] synonym: "L-iduronidase deficiency, Hurler type" EXACT [] synonym: "MPS1-H" EXACT [] synonym: "MPS I - Hurler syndrome" EXACT [] synonym: "Mucopolysaccharidosis Type Ih" EXACT [] synonym: "mucopolysaccharidosis type I severe form" EXACT [] synonym: "Pfaundler-Hurler syndrome" EXACT [] xref: GARD:12559 xref: ICD10CM:E76.01 xref: NCI:C61261 xref: ORDO:93473 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12802 ! mucopolysaccharidosis I [Term] id: DOID:0111391 name: mucopolysaccharidosis IVA def: "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (DO)" [PMID:18412124 "DO", PMID:7607677 "DO"] synonym: "GALNS deficiencies" EXACT [] synonym: "GALNS Deficiency" EXACT [] synonym: "GALNS-RELATED CONDITION" EXACT [] synonym: "Morquio A Disease" EXACT [] synonym: "Morquio Syndrome A" EXACT [] synonym: "MPS4A" EXACT [] synonym: "MPS IV A" EXACT [] synonym: "MPS IVA" EXACT [] synonym: "MPS IV - Morquio syndrome A" EXACT [] synonym: "Mucopolysaccharidosis, MPS-IV-A" EXACT [SNOMEDCT_2005_07_31:7259005] synonym: "mucopolysaccharidosis type IVA" EXACT [] synonym: "Mucopolysaccharidosis Type IV A" EXACT [] xref: GARD:3785 xref: ICD10CM:E76.210 xref: MIM:253000 xref: NCI:C84901 xref: ORDO:309297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12804 ! mucopolysaccharidosis IV [Term] id: DOID:0111392 name: mucopolysaccharidosis type IVB def: "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. (DO)" [PMID:1928092 "DO", PMID:817853 "DO"] synonym: "beta-D-galactosidase deficiency" EXACT [] synonym: "GLB1-RELATED CONDITION" BROAD [] synonym: "Morquio's disease Type B" EXACT [] synonym: "Morquio disease B" EXACT [] synonym: "Morquio disease type B" EXACT [] synonym: "Morquio syndrome B" EXACT [] synonym: "Morquio Syndrome, Type B" EXACT [] synonym: "MPS4B" EXACT [] synonym: "MPS IV B" EXACT [] synonym: "MPS IVB" EXACT [] synonym: "MPS IV - Morquio syndrome B" EXACT [] synonym: "Mucopolysaccharidosis 4B" EXACT [] synonym: "mucopolysaccharidosis, MPS-IV-B" EXACT [] synonym: "mucopolysaccharidosis type IV B" EXACT [] synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [] xref: ICD10CM:E76.211 xref: MIM:253010 xref: NCI:C84902 xref: ORDO:309310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12804 ! mucopolysaccharidosis IV [Term] id: DOID:0111393 name: mucopolysaccharidosis type IIIC def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. (DO)" [PMID:16960811 "DO"] synonym: "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency" EXACT [] synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [] synonym: "HGSNAT deficiency" EXACT [] synonym: "MPS 3 C" EXACT [] synonym: "MPS3C" EXACT [] synonym: "MPSIIIC" EXACT [] synonym: "MPS III C" EXACT [] synonym: "MPS IIIC" EXACT [] synonym: "MPS IIIC - Sanfilippo syndrome C" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-III-C" EXACT [] synonym: "Mucopolysaccharidosis Type 3 C" EXACT [] synonym: "Mucopolysaccharidosis type 3C" EXACT [] synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [] synonym: "Sanfilippo syndrome C" EXACT [] synonym: "Sanfilippo syndrome type C" EXACT [] xref: GARD:7073 xref: MIM:252930 xref: NCI:C84899 xref: ORDO:79271 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111394 name: mucopolysaccharidosis type IIIB def: "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. (DO)" [PMID:15933803 "DO", PMID:8650226 "DO"] synonym: "MPS 3 B" EXACT [] synonym: "MPS3B" EXACT [] synonym: "MPS III B" EXACT [] synonym: "MPS IIIB" EXACT [] synonym: "MPSIIIB" EXACT [] synonym: "MPS IIIB - Sanfilippo syndrome B" EXACT [] synonym: "mucopolysaccharidosis IIIB" EXACT [] synonym: "mucopolysaccharidosis, MPS-III-B" EXACT [] synonym: "Mucopoly-saccharidosis type 3B" EXACT [] synonym: "Mucopolysaccharidosis Type 3 B" EXACT [] synonym: "mucopolysaccharidosis type 3B" EXACT [] synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [] synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [] synonym: "Sanfilippo syndrome B" EXACT [] synonym: "Sanfilippo syndrome type B" EXACT [] xref: GARD:7072 xref: ICD10CM:E76.22 xref: MIM:252920 xref: ORDO:79270 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111395 name: mucopolysaccharidosis type IIIA def: "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (DO)" [PMID:6796310 "DO", PMID:7493035 "DO"] synonym: "heparan sulfamidase deficiency" EXACT [] synonym: "MPS 3 A" EXACT [] synonym: "MPS3A" EXACT [] synonym: "MPS III A" EXACT [] synonym: "MPS IIIA" EXACT [] synonym: "MPSIIIA" EXACT [] synonym: "MPS IIIA - Sanfilippo syndrome A" EXACT [] synonym: "mucopolysaccharidosis III-A" EXACT [] synonym: "mucopolysaccharidosis IIIA" EXACT [] synonym: "mucopolysaccharidosis, MPS-III-A" EXACT [] synonym: "mucopolysaccharidosis type 3 A" EXACT [] synonym: "mucopolysaccharidosis type 3A" EXACT [] synonym: "mucopolysaccharidosis type 3 A Sanfilippo syndrome" EXACT [] synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [] synonym: "Sanfilippo syndrome A" EXACT [] synonym: "Sanfilippo syndrome type A" EXACT [] xref: MIM:252900 xref: ORDO:79269 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111396 name: congenital dyserythropoietic anemia type I def: "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. (DO)" [PMID:16098079 "DO"] synonym: "CDA1" EXACT [] synonym: "CDA I" EXACT [] synonym: "CDA type 1" EXACT [] synonym: "CDA type I" EXACT [] synonym: "Congenital dyserythropoietic anaemia type 1" EXACT [] synonym: "congenital dyserythropoietic anaemia type I" EXACT [] synonym: "congenital dyserythropoietic anemia type 1" EXACT [] xref: GARD:2000 xref: MONDO:0020337 xref: ORDO:98869 is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111397 name: congenital dyserythropoietic anemia type Ib def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14. (DO)" [PMID:23716552 "DO"] synonym: "CDAN1B" EXACT [] synonym: "CDA, type Ib" EXACT [] synonym: "CDIN1-RELATED CONDITION" EXACT [] xref: MIM:615631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I [Term] id: DOID:0111398 name: congenital dyserythropoietic anemia type Ia def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. (DO)" [PMID:12434312 "DO"] synonym: "CDA Ia" EXACT [] synonym: "CDAN1A" EXACT [] synonym: "CDAN1-RELATED CONDITION" EXACT [] synonym: "CDA type Ia" EXACT [] xref: MIM:224120 xref: MONDO:0009135 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I [Term] id: DOID:0111399 name: congenital dyserythropoietic anemia type IIIa def: "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23. (DO)" [PMID:7711721 "DO"] synonym: "anaemia with multinucleated erythroblasts" EXACT [] synonym: "anemia with multinucleated erythroblasts" EXACT [] synonym: "CDA III" BROAD [] synonym: "CDAN3" BROAD [] synonym: "CDAN3A" EXACT [] synonym: "CDA type 3" BROAD [] synonym: "CDA type 3A" EXACT [] synonym: "CDA type III" BROAD [] synonym: "Congenital dyserythropoietic anaemia type 3" BROAD [] synonym: "congenital dyserythropoietic anaemia type III" BROAD [] synonym: "congenital dyserythropoietic anemia type 3" BROAD [] synonym: "congenital dyserythropoietic anemia type III" BROAD [] synonym: "hereditary benign erythroreticulosis" EXACT [] synonym: "KIF23-related condition" BROAD [] xref: GARD:2002 xref: MESH:C566285 xref: MIM:105600 xref: ORDO:98870 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111400 name: congenital dyserythropoietic anemia type IVa def: "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)" [PMID:21055716 "DO"] synonym: "ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN" EXACT [] synonym: "CDA due to KLF1 mutation" EXACT [] synonym: "CDA IV" BROAD [] synonym: "CDAN4" BROAD [] synonym: "CDAN4A" EXACT [] synonym: "CDA type 4" BROAD [] synonym: "CDA, type IV" BROAD [] synonym: "CDA, type IVa" EXACT [] synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT [] synonym: "congenital dyserythropoietic anaemia type 4" BROAD [] synonym: "congenital dyserythropoietic anaemia type IV" BROAD [] synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [] synonym: "congenital dyserythropoietic anemia, type 4" BROAD [] synonym: "congenital dyserythropoietic anemia type IV" BROAD [] synonym: "KLF1-RELATED CONDITION" EXACT [] xref: MIM:613673 xref: MONDO:0013355 xref: NCI:C157148 xref: ORDO:293825 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111401 name: congenital dyserythropoietic anemia type II def: "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. (DO)" [PMID:19561605 "DO"] synonym: "CDA II" EXACT [] synonym: "CDAN2" EXACT [] synonym: "CDA type 2" EXACT [] synonym: "CDA type II" EXACT [] synonym: "congenital dyserythropoietic anaemia type 2" EXACT [] synonym: "congenital dyserythropoietic anaemia type II" EXACT [] synonym: "congenital dyserythropoietic anemia, type 2" EXACT [] synonym: "Dyserythropoietic Anemia, HEMPAS Type" EXACT [] synonym: "HEMPAS" EXACT [] synonym: "HEMPAS anemia" EXACT [] synonym: "HEMPAS anemias" EXACT [] synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [] synonym: "hereditary erythroblastic multinuclearity with positive acidified-serum test" EXACT [] synonym: "hereditary erythroblast multinuclearity with positive acidified serum" EXACT [] synonym: "SEC23B-CDG" EXACT [] synonym: "SEC23B-RELATED CONDITION" BROAD [] xref: GARD:2001 xref: MIM:224100 xref: NCI:C175991 xref: ORDO:98873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111402 name: mucopolysaccharidosis type IIID def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. (DO)" [PMID:12573255 "DO"] synonym: "GNS deficiency" EXACT [] synonym: "MPS 3 D" EXACT [] synonym: "MPS3D" EXACT [] synonym: "MPS III D" EXACT [] synonym: "MPS IIID" EXACT [] synonym: "MPS IIID - Sanfilippo syndrome D" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-III-D" EXACT [] synonym: "Mucopolysaccharidosis type 3D" EXACT [] synonym: "mucopolysaccharidosis type 3 D" EXACT [] synonym: "N-acetylglucosamine-6-sulfatase deficiencies" EXACT [] synonym: "N-acetylglucosamine-6-sulfatase deficiency" EXACT [] synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiencies" EXACT [] synonym: "N acetylglucosamine 6 sulfate sulfatase deficiency" EXACT [] synonym: "Sanfilippo syndrome D" EXACT [] synonym: "Sanfilippo syndrome type D" EXACT [] xref: GARD:7074 xref: MIM:252940 xref: NCI:C84900 xref: ORDO:79272 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111403 name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations def: "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. (DO)" [PMID:30449657 "DO"] synonym: "MAST1-RELATED CONDITION" EXACT [] synonym: "MCCCHCM" EXACT [] xref: MIM:618273 xref: NCI:C212888 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability created_by: rgd creation_date: 2017-10-18T11:02:58Z [Term] id: DOID:0111404 name: Jalili syndrome alt_id: DOID:9002360 def: "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. (DO)" [PMID:19200527 "DO", PMID:3236352 "DO"] synonym: "CNNM4-related condition" BROAD [] synonym: "cone rod dystrophy-amelogenesis imperfecta" EXACT [] synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [] synonym: "cone-rod dystrophy and amelogenesis imperfecta" EXACT [] xref: GARD:1463 xref: MESH:C000596385 xref: MESH:C535976 xref: MIM:217080 xref: MONDO:0009007 xref: ORDO:1873 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0111405 name: Fraser syndrome 1 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. (DO)" [PMID:12766769 "DO"] synonym: "CRYPTOPHTHALMOS SYNDROME" EXACT [] synonym: "FRAS1-related condition" BROAD [] synonym: "FRASRS1" EXACT [] xref: MIM:219000 xref: MONDO:0054737 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111406 name: Fraser syndrome 3 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. (DO)" [PMID:22510445 "DO"] synonym: "FRASRS3" EXACT [] synonym: "GRIP1-related condition" BROAD [] xref: MIM:617667 xref: MONDO:0054739 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111407 name: Fraser syndrome 2 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. (DO)" [PMID:15838507 "DO"] synonym: "FRASRS2" EXACT [] synonym: "FREM2-related condition" BROAD [] xref: MIM:617666 xref: MONDO:0054738 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111408 name: exudative vitreoretinopathy 5 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. (DO)" [PMID:20159111 "DO"] synonym: "EVR5" EXACT [] synonym: "TSPAN12-related condition" BROAD [] xref: MESH:C567648 xref: MIM:613310 xref: MONDO:0013218 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111409 name: exudative vitreoretinopathy 3 alt_id: MIM:605750 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. (DO)" [PMID:11179025 "DO", PMID:15665352 "DO"] synonym: "EVR3" EXACT [] xref: MESH:C565297 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111410 name: exudative vitreoretinopathy 6 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. (DO)" [PMID:23716654 "DO"] synonym: "EVR6" EXACT [] synonym: "ZNF408-RELATED CONDITION" BROAD [] xref: MIM:616468 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111411 name: exudative vitreoretinopathy 4 def: "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. (DO)" [PMID:15024691 "DO"] synonym: "EVR4" EXACT [] synonym: "exudative vitreoretinopathy 4, autosomal dominant" NARROW [] synonym: "exudative vitreoretinopathy 4, autosomal recessive" NARROW [] synonym: "exudative vitreoretinopathy 4, digenic" NARROW [] xref: MESH:C566619 xref: MIM:601813 xref: MONDO:0011151 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050739 ! autosomal genetic disease [Term] id: DOID:0111412 name: exudative vitreoretinopathy 1 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. (DO)" [PMID:12172548 "DO"] synonym: "Criswick-Schepens syndrome" EXACT [] synonym: "EVR1" EXACT [] synonym: "familial exudative vitreoretinopathy, autosomal dominant" EXACT [] synonym: "FEVR, autosomal dominant" EXACT [] synonym: "FZD4-related condition" BROAD [] synonym: "retinopathy of prematurity" NARROW [] synonym: "ROP" NARROW [] xref: MESH:C536382 xref: MIM:133780 xref: MONDO:0007589 xref: NCI:C175048 xref: ORDO:90050 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111413 name: X-linked exudative vitreoretinopathy 2 alt_id: MIM:305390 def: "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. (DO)" [PMID:8252044 "DO"] synonym: "EVR2" EXACT [] synonym: "EVRX" EXACT [] synonym: "familial exudative vitreoretinopathy, 2" EXACT [] synonym: "familial exudative vitreoretinopathy, X-linked recessive" EXACT [] synonym: "FEVRX" EXACT [] synonym: "FEVR, X-Linked" EXACT [] synonym: "NDP-RELATED DISORDER" BROAD [] synonym: "X-linked exudative vitreoretinopathy" EXACT [] xref: MESH:C564428 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0111414 name: trichohepatoenteric syndrome def: "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. (DO)" [PMID:28944135 "DO"] synonym: "fatal infantile diarrhea with trichorrhexis nodosa" EXACT [] synonym: "phenotypic diarrhea" EXACT [] synonym: "SD/THE" EXACT [] synonym: "syndromic diarrhea" EXACT [] synonym: "syndromic diarrhea/tricho-hepato-enteric syndrome" EXACT [] synonym: "THES" EXACT [] synonym: "THE syndrome" EXACT [] synonym: "tricho-hepato-enteric syndrome" EXACT [] xref: GARD:5258 xref: MESH:C565627 xref: MIM:PS222470 xref: ORDO:84064 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:9001487 ! Facies is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9007847 ! Infantile Diarrhea [Term] id: DOID:0111415 name: trichohepatoenteric syndrome 1 def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. (DO)" [PMID:20176027 "DO"] synonym: "SKIC3-RELATED CONDITION" EXACT [] synonym: "THES1" EXACT [] xref: MIM:222470 is_a: DOID:0111414 ! trichohepatoenteric syndrome [Term] id: DOID:0111416 name: trichohepatoenteric syndrome 2 def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. (DO)" [PMID:22444670 "DO"] synonym: "SKIC2-RELATED CONDITION" EXACT [] synonym: "THES2" EXACT [] xref: MIM:614602 is_a: DOID:0111414 ! trichohepatoenteric syndrome [Term] id: DOID:0111417 name: familial chylomicronemia syndrome def: "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. (DO)" [PMID:23525082 "DO"] xref: ORDO:444490 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:0111418 name: familial apolipoprotein C-II deficiency def: "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. (DO)" [PMID:3467353 "DO"] synonym: "APOC2 DEFICIENCY" EXACT [] synonym: "APOC2-RELATED DISORDER" EXACT [] synonym: "Apolipoprotein C-II Deficiencies" EXACT [] synonym: "Apolipoprotein C II Deficiency" EXACT [] synonym: "familial APOC2 deficiency" EXACT [] synonym: "familial apoC-II deficiency" EXACT [] synonym: "hyperlipoproteinemia, type 1b" EXACT [] synonym: "Hyperlipoproteinemia Type Ib" EXACT [] synonym: "Type Ib Hyperlipoproteinemias" EXACT [] xref: MIM:207750 xref: ORDO:309020 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111419 name: familial chylomicronemia due to inhibition of lipoprotein lipase activity alt_id: MIM:118830 def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. (DO)" [PMID:6833877 "DO"] synonym: "familial chylomicronemia due to circulating inhibitor of lipoprotein lipase" EXACT [] synonym: "hyperlipoproteinemia type 1C" EXACT [] synonym: "hyperlipoproteinemia type IC" EXACT [] xref: MESH:C566126 is_a: DOID:0111417 ! familial chylomicronemia syndrome is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:0111420 name: familial GPIHBP1 deficiency def: "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. (DO)" [PMID:17883852 "DO", PMID:23525082 "DO"] synonym: "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency" EXACT [] synonym: "GPIHBP1-RELATED CONDITION" EXACT [] synonym: "hyperlipoproteinemia type 1D" EXACT [] synonym: "hyperlipoproteinemia type ID" EXACT [] xref: MIM:615947 xref: ORDO:535458 is_a: DOID:0111417 ! familial chylomicronemia syndrome is_a: DOID:14118 ! familial lipoprotein lipase deficiency is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:0111421 name: familial apolipoprotein A5 deficiency def: "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. (DO)" [PMID:16200213 "DO", PMID:23525082 "DO"] synonym: "APOA5-related condition" BROAD [] synonym: "familial APOA5 deficiency" EXACT [] synonym: "familial apolipoprotein A-V deficiency" EXACT [] xref: ORDO:530849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111422 name: familial lipase maturation factor 1 deficiency def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. (DO)" [PMID:17994020 "DO", PMID:23525082 "DO"] synonym: "combined lipase deficiency" EXACT [] synonym: "familial LMF1 deficiency" EXACT [] synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" EXACT [] synonym: "LMF1-related condition" EXACT [] synonym: "Lpl And Hl Deficiency" EXACT [] synonym: "Lpl And Htgl Deficiency" EXACT [] xref: MESH:C535904 xref: MIM:246650 xref: MONDO:0009527 xref: NCI:C126558 xref: ORDO:535453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111423 name: branchiootorenal syndrome 1 def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. (DO)" [PMID:9020840 "DO"] synonym: "BOR1" EXACT [] xref: MIM:113650 xref: MONDO:0007236 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0111424 name: branchiootorenal syndrome 2 def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. (DO)" [PMID:17357085 "DO"] synonym: "BOR2" EXACT [] synonym: "SIX5-related condition" BROAD [] xref: MIM:610896 xref: MONDO:0012575 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0111425 name: familial restrictive cardiomyopathy 1 def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. (DO)" [PMID:12531876 "DO"] synonym: "RCM1" EXACT [] synonym: "restrictive cardiomyopathy 1" EXACT [] xref: MESH:C566168 xref: MIM:115210 xref: MONDO:0007270 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111426 name: familial restrictive cardiomyopathy 2 alt_id: MIM:609578 def: "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. (DO)" [PMID:16061566 "DO"] synonym: "RCM2" EXACT [] synonym: "restrictive cardiomyopathy 2" EXACT [] xref: MESH:C566512 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111427 name: familial restrictive cardiomyopathy 3 alt_id: MIM:612422 def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. (DO)" [PMID:16651346 "DO"] synonym: "RCM3" EXACT [] synonym: "restrictive cardiomyopathy 3" EXACT [] xref: MESH:C567316 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111428 name: essential tremor 1 alt_id: MIM:190300 def: "An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. (DO)" [PMID:16650084 "DO"] synonym: "DRD3-RELATED DISORDER" BROAD [] synonym: "ETM1" EXACT [] synonym: "familial essential tremor 1" EXACT [] synonym: "FET1" EXACT [] synonym: "HAND TREMOR" NARROW [] synonym: "Hereditary Essential Tremor, 1" EXACT [] xref: MESH:C536545 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111429 name: essential tremor 2 alt_id: MIM:602134 def: "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. (DO)" [PMID:9399207 "DO"] synonym: "ETM2" EXACT [] synonym: "hereditary essential tremor 2" EXACT [] xref: MESH:C536546 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111430 name: essential tremor 3 alt_id: MIM:611456 def: "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. (DO)" [PMID:16702189 "DO"] synonym: "ETM3" EXACT [] synonym: "hereditary essential tremor 3" EXACT [] xref: MESH:C566949 is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111431 name: essential tremor 4 def: "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. (DO)" [PMID:22863194 "DO"] synonym: "ETM4" EXACT [] synonym: "FUS-related condition" BROAD [] synonym: "hereditary essential tremor 4" EXACT [] xref: MIM:614782 xref: MONDO:0013888 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111432 name: essential tremor 5 def: "An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. (DO)" [PMID:26188006 "DO"] synonym: "ETM5" EXACT [] synonym: "hereditary essential tremor 5" EXACT [] synonym: "TENM4-RELATED CONDITION" EXACT [] xref: MIM:616736 xref: MONDO:0014756 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111433 name: optic atrophy 3 alt_id: MIM:165300 def: "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. (DO)" [PMID:15342707 "DO"] synonym: "ADOAC" EXACT [] synonym: "autosomal dominant optic atrophy type 3" EXACT [] synonym: "OPA3" EXACT [] synonym: "OPA3, autosomal dominant" EXACT [] synonym: "optic atrophy 3, autosomal dominant" EXACT [] synonym: "optic atrophy 3 with cataract" EXACT [] synonym: "optic atrophy and cataract, autosomal dominant" EXACT [] synonym: "optic atrophy, cataract, and neurologic disorder" EXACT [] xref: GARD:10203 xref: MESH:C537128 xref: ORDO:67036 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111434 name: optic atrophy 10 def: "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. (DO)" [PMID:26593267 "DO"] synonym: "OPA10" EXACT [] synonym: "optic atrophy 10 with or without ataxia, impaired intellectual development and seizures" EXACT [] synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" EXACT [] synonym: "RTN4IP1-RELATED CONDITION" EXACT [] xref: MIM:616732 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9004866 ! Ataxia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111435 name: optic atrophy 6 alt_id: MIM:258500 def: "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. (DO)" [PMID:14508503 "DO"] synonym: "OPA6" EXACT [] synonym: "Optic atrophy, congenital or early infantile, autosomal recessive" EXACT [] xref: MESH:C537127 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111436 name: optic atrophy 11 def: "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. (DO)" [PMID:27495975 "DO"] synonym: "OPA11" EXACT [] synonym: "YME1L1-related condition" BROAD [] xref: MIM:617302 xref: MONDO:0015011 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111437 name: optic atrophy 7 def: "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. (DO)" [PMID:19327736 "DO"] synonym: "OPA7" EXACT [] synonym: "optic atrophy 7 with or without auditory neuropathy" EXACT [] synonym: "TMEM126A-related condition" BROAD [] xref: MESH:C567833 xref: MIM:612989 xref: MONDO:0013069 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111438 name: optic atrophy 5 alt_id: MIM:610708 def: "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. (DO)" [PMID:28969390 "DO"] synonym: "DNM1L-RELATED CONDITION" BROAD [] synonym: "DNM1L-RELATED DISORDERS" BROAD [] synonym: "OPA5" EXACT [] xref: MESH:C537126 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111439 name: optic atrophy 8 def: "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. (DO)" [PMID:21349918 "DO"] synonym: "OPA8" EXACT [] xref: MIM:616648 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111440 name: optic atrophy 4 alt_id: MIM:605293 def: "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. (DO)" [PMID:10369594 "DO"] synonym: "OPA4" EXACT [] xref: MESH:C565343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111441 name: optic atrophy 1 alt_id: MIM:165500 def: "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [PMID:11017079 "DO", PMID:11017080 "DO", PMID:9514489 "DO"] synonym: "autosomal dominant optic atrophy Kjer type" EXACT [] synonym: "dominant optic atrophies" EXACT [] synonym: "Dominant Optic Atrophy" EXACT [] synonym: "hereditary optic atrophy, autosomal dominant" EXACT [] synonym: "hereditary optic atrophy, dominant" EXACT [] synonym: "Juvenile Optic Atrophies" EXACT [] synonym: "Juvenile Optic Atrophy" EXACT [] synonym: "Kjer's Optic Atrophy" EXACT [] synonym: "Kjer Optic Atrophy" EXACT [] synonym: "Kjers Optic Atrophy" EXACT [] synonym: "Kjer-Type Optic Atrophies" EXACT [] synonym: "Kjer Type Optic Atrophy" EXACT [] synonym: "OAK" EXACT [] synonym: "OPA1" EXACT [] synonym: "optic atrophy, autosomal dominant" EXACT [] synonym: "optic atrophy type 1" EXACT [] xref: MESH:D029241 xref: NCI:C169000 xref: NCI:C84577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111442 name: optic atrophy 9 def: "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. (DO)" [PMID:25351951 "DO"] synonym: "ACO2-related condition" BROAD [] synonym: "ACO2-related disorder" BROAD [] synonym: "ACO2-related disorders" BROAD [] synonym: "OPA9" EXACT [] synonym: "optic atrophy 9, autosomal recessive" NARROW [] xref: MIM:616289 xref: MONDO:0014571 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111443 name: optic atrophy 2 alt_id: MIM:311050 def: "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. (DO)" [PMID:9382106 "DO"] synonym: "OPA2" EXACT [] synonym: "OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET" EXACT [] synonym: "X-linked optic atrophy" EXACT [] synonym: "X-linked optic atrophy 2" EXACT [] xref: MESH:C537125 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111444 name: progressive myoclonus epilepsy 4 def: "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. (DO)" [PMID:15364701 "DO", PMID:19847901 "DO"] synonym: "action myoclonus-renal failure syndrome" EXACT [] synonym: "AMRF" EXACT [] synonym: "EPM4" EXACT [] synonym: "myoclonus nephropathy syndrome" EXACT [] synonym: "myoclonus-nephropathy syndromes" EXACT [] synonym: "progressive myoclonic epilepsy 4" EXACT [] synonym: "progressive myoclonic epilepsy 4, with or without renal failure" EXACT [] synonym: "SCARB2-RELATED CONDITION" EXACT [] xref: MIM:254900 xref: ORDO:163696 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1074 ! kidney failure is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111445 name: progressive myoclonus epilepsy 10 def: "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. (DO)" [PMID:22961547 "DO"] synonym: "early-onset Lafora body disease" EXACT [] synonym: "EPM10" EXACT [] synonym: "progressive myoclonic epilepsy 10" EXACT [] xref: GARD:17482 xref: MIM:616640 xref: MONDO:0014717 xref: ORDO:324290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111446 name: progressive myoclonus epilepsy 3 alt_id: MIM:611726 def: "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. (DO)" [PMID:17455289 "DO", PMID:22748208 "DO"] synonym: "CLN14" EXACT [] synonym: "CLN14 disease" EXACT [] synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS" NARROW [] synonym: "Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions" EXACT [] synonym: "EPM3" EXACT [] synonym: "neuronal ceroid lipofuscinosis 14" EXACT [] synonym: "PME type 3" EXACT [] synonym: "Progressive Myoclonic Epilepsy 3" EXACT [] synonym: "Progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [] synonym: "progressive myoclonus epilepsy type 3" EXACT [] xref: GARD:2167 xref: MESH:C567095 xref: ORDO:263516 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111447 name: progressive myoclonus epilepsy 7 def: "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. (DO)" [PMID:25401298 "DO"] synonym: "EPM7" EXACT [] synonym: "KCNC1-RELATED CONDITION" EXACT [] synonym: "MEAK" EXACT [] synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [] synonym: "PME type 7" EXACT [] synonym: "progressive myoclonic epilepsy 7" EXACT [] synonym: "Progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [] synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7" EXACT [] synonym: "progressive myoclonus epilepsy type 7" EXACT [] xref: MIM:616187 xref: NCI:C142804 xref: ORDO:435438 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111448 name: progressive myoclonus epilepsy 1B def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. (DO)" [PMID:18976727 "DO"] synonym: "Epilepsy, progressive myoclonic 1B" EXACT [] synonym: "EPM1B" EXACT [] synonym: "Pme with Ataxia" EXACT [] synonym: "PRICKLE1-related progressive myoclonic epilepsy with ataxia" EXACT [] synonym: "PRICKLE1-related progressive myoclonus epilepsy with ataxia" EXACT [] synonym: "progressive myoclonus epilepsy with ataxia" EXACT [] xref: MESH:C580388 xref: MIM:612437 xref: MONDO:0012904 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3535 ! Unverricht-Lundborg syndrome is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0111449 name: progressive myoclonus epilepsy 6 def: "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. (DO)" [PMID:21549339 "DO"] synonym: "EPM6" EXACT [] synonym: "GOSR2-RELATED CONDITION" BROAD [] synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [] synonym: "North Sea progressive myoclonus epilepsy" EXACT [] synonym: "PME type 6" EXACT [] synonym: "progressive myoclonic epilepsy 6" EXACT [] synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6" EXACT [] synonym: "progressive myoclonus epilepsy type 6" EXACT [] xref: GARD:3872 xref: MIM:614018 xref: ORDO:280620 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111450 name: progressive myoclonus epilepsy 9 def: "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. (DO)" [PMID:25954030 "DO"] synonym: "EMP9" EXACT [] synonym: "EPM9" EXACT [] synonym: "PME type 9" EXACT [] synonym: "progressive myoclonic epilepsy 9" EXACT [] synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [] synonym: "progressive myoclonic epilepsy type 9" EXACT [] synonym: "progressive myoclonus epilepsy type 9" EXACT [] xref: MIM:616540 xref: MONDO:0014685 xref: ORDO:457265 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111451 name: progressive myoclonus epilepsy 8 def: "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)" [PMID:19243074 "DO", PMID:24782409 "DO"] synonym: "CERS1-related condition" BROAD [] synonym: "EMP8" EXACT [] synonym: "EPM8" EXACT [] synonym: "PME type 8" EXACT [] synonym: "progressive myoclonic epilepsy 8" EXACT [] synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [] synonym: "progressive myoclonic epilepsy type 8" EXACT [] synonym: "progressive myoclonus epilepsy type 8" EXACT [] xref: MIM:616230 xref: MONDO:0014545 xref: ORDO:424027 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111452 name: progressive myoclonus epilepsy 1A def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. (DO)" [PMID:8596935 "DO"] synonym: "EPM1A" EXACT [] xref: MIM:254800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3535 ! Unverricht-Lundborg syndrome [Term] id: DOID:0111453 name: 2-aminoadipic 2-oxoadipic aciduria def: "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. (DO)" [PMID:23141293 "DO"] synonym: "2-ketoadipic aciduria" EXACT [] synonym: "AAKAD" EXACT [] synonym: "alpha-aminoadipic aciduria" EXACT [] synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [] synonym: "aminoadipic aciduria" EXACT [] synonym: "AMOXAD" EXACT [] synonym: "DHTKD1-RELATED CONDITION" BROAD [] xref: MIM:204750 xref: ORDO:79154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111454 name: SHORT syndrome def: "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay "DO", PMID:23810382 "DO"] synonym: "Aarskog-Ose-Pande syndrome" EXACT [] synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [] synonym: "partial lipodystrophy with Rieger anomaly and short stature" EXACT [] synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [] synonym: "short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay" EXACT [] xref: GARD:7633 xref: MESH:C537327 xref: MIM:269880 xref: MONDO:0010026 xref: ORDO:3163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12678 ! hypercalcemia is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0111455 name: GRACILE syndrome alt_id: MIM:603358 def: "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)" [PMID:12215968 "DO", PMID:9482441 "DO"] synonym: "BCS1L-related disorder" BROAD [] synonym: "Fellman disease" EXACT [] synonym: "Fellman syndrome" EXACT [] synonym: "Finnish lactic acidosis with hepatic hemosiderosis" EXACT [] synonym: "Finnish Lethal Neonatal Metabolic Syndrome" EXACT [] synonym: "FLNMS" EXACT [] synonym: "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [] synonym: "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [] synonym: "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" EXACT [] synonym: "neonatal lactic acidosis" NARROW [] xref: GARD:1 xref: MESH:C537934 xref: MONDO:0011308 xref: ORDO:53693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12119 ! hemosiderosis is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:3650 ! lactic acidosis is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:0111456 name: Kaufman oculocerebrofacial syndrome alt_id: MIM:244450 def: "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. (DO)" [https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome "DO", PMID:23200864 "DO"] synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT [] synonym: "blepharophimosis-ptosis-mental retardation syndrome" EXACT [] synonym: "BPIDS" EXACT [] synonym: "BPID syndrome" EXACT [] synonym: "KOS" EXACT [] synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT [] synonym: "UBE3B-RELATED CONDITION" EXACT [] xref: GARD:3084 xref: MESH:C537013 xref: ORDO:2707 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:10348 ! blepharophimosis is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0111457 name: STING-associated vasculopathy with onset in infancy def: "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. (DO)" [PMID:25029335 "DO"] synonym: "SAVI" EXACT [] synonym: "STING-associated vasculopathy, infantile-onset" EXACT [] xref: GARD:12357 xref: MIM:615934 xref: MONDO:0014405 xref: NCI:C177547 xref: ORDO:425120 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:178 ! vascular disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:0111458 name: galactose epimerase deficiency def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. (DO)" [PMID:8593531 "DO", PMID:9700591 "DO"] synonym: "epimerase deficiency galactosemia" EXACT [] synonym: "epimerase deficiency galactosemias" EXACT [] synonym: "GALAC3" EXACT [] synonym: "galactose epimerase deficiencies" EXACT [] synonym: "Galactosemia 3" EXACT [] synonym: "Galactosemia III" EXACT [] synonym: "galactosemia type 3" EXACT [] synonym: "GALE-D" EXACT [] synonym: "GALE Deficiencies" EXACT [] synonym: "GALE Deficiency" EXACT [] synonym: "UDP-Galactose-4-Epimerase Deficiencies" EXACT [] synonym: "UDP Galactose 4 Epimerase Deficiency" EXACT [] synonym: "UDP Galactose 4 Epimerase Deficiency Disease" EXACT [] synonym: "UDP-galactose-4-epimerase deficiency diseases" EXACT [] synonym: "UDPglucose-4-epimerase deficiency" EXACT [] synonym: "UDPglucose-4-epimerase deficiency disease" EXACT [] synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [] xref: GARD:5392 xref: MIM:230350 xref: ORDO:79238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9870 ! galactosemia [Term] id: DOID:0111459 name: classic galactosemia def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. (DO)" [PMID:11261429 "DO"] synonym: "classic galactosemias" EXACT [] synonym: "GALAC1" EXACT [] synonym: "galactose 1 phosphate uridyltransferase deficiency" EXACT [] synonym: "galactose 1 phosphate uridyl transferase deficiency disease" EXACT [] synonym: "galactose 1 phosphate uridylyltransferase deficiency" EXACT [] synonym: "galactosemia I" EXACT [] synonym: "galactosemia type 1" EXACT [] synonym: "GALT deficiencies" EXACT [] synonym: "GALT deficiency" EXACT [] synonym: "GALT-related condition" BROAD [] xref: GARD:13639 xref: MIM:230400 xref: MONDO:0009258 xref: NCI:C99104 xref: ORDO:79239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9870 ! galactosemia [Term] id: DOID:0111460 name: cardiofaciocutaneous syndrome 1 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)" [PMID:16474404 "DO"] synonym: "CFC1" EXACT [] xref: MIM:115150 xref: MONDO:0007265 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111461 name: cardiofaciocutaneous syndrome 2 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. (DO)" [PMID:16474404 "DO"] synonym: "CFC2" EXACT [] xref: MIM:615278 xref: MONDO:0014112 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111462 name: cardiofaciocutaneous syndrome 3 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. (DO)" [PMID:16439621 "DO"] synonym: "CFC3" EXACT [] synonym: "MAP2K1-RELATED DISORDER" BROAD [] xref: MIM:615279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111463 name: cardiofaciocutaneous syndrome 4 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. (DO)" [PMID:20358587 "DO"] synonym: "CFC4" EXACT [] synonym: "MAP2K2-RELATED CONDITION" EXACT [] xref: MIM:615280 xref: NCI:C222348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111464 name: combined oxidative phosphorylation deficiency 35 def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. (DO)" [PMID:24901367 "DO", PMID:28185376 "DO"] synonym: "COXPD35" EXACT [] synonym: "TRIT1 DEFICIENCY" EXACT [] synonym: "TRIT1-RELATED CONDITION" EXACT [] xref: MIM:617873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111465 name: combined oxidative phosphorylation deficiency 21 def: "A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. (DO)" [PMID:24827421 "DO", PMID:34508595 "DO"] synonym: "COXPD21" EXACT [] synonym: "TARS2-related condition" BROAD [] xref: EFO:0009032 xref: MIM:615918 xref: MONDO:0014398 xref: ORDO:420733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111466 name: combined oxidative phosphorylation deficiency 38 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. (DO)" [PMID:30358850 "DO"] synonym: "COXPD38" EXACT [] synonym: "MRPS14-RELATED CONDITION" EXACT [] xref: MIM:618378 xref: MONDO:0032712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: rgd creation_date: 2018-02-07T15:36:47Z [Term] id: DOID:0111467 name: combined oxidative phosphorylation deficiency 13 def: "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. (DO)" [PMID:23084291 "DO"] synonym: "COXPD13" EXACT [] xref: MIM:614932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111468 name: combined oxidative phosphorylation deficiency 25 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. (DO)" [PMID:25754315 "DO"] synonym: "COXPD25" EXACT [] synonym: "MARS2-RELATED CONDITION" BROAD [] xref: EFO:0009035 xref: MIM:616430 xref: ORDO:447954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111469 name: combined oxidative phosphorylation deficiency 16 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. (DO)" [PMID:23315540 "DO"] synonym: "COXPD16" EXACT [] synonym: "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" EXACT [] synonym: "MRPL44-related condition" BROAD [] xref: GARD:12892 xref: MIM:615395 xref: MONDO:0014162 xref: ORDO:352563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111470 name: combined oxidative phosphorylation deficiency 28 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. (DO)" [PMID:27132592 "DO"] synonym: "COXPD28" EXACT [] synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT [] synonym: "SLC25A26-related condition" BROAD [] xref: MIM:616794 xref: MONDO:0014775 xref: ORDO:466784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2019-02-27T09:30:20Z [Term] id: DOID:0111471 name: combined oxidative phosphorylation deficiency 30 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. (DO)" [PMID:27132592 "DO"] synonym: "COXPD30" EXACT [] synonym: "TRMT10C-RELATED CONDITION" EXACT [] xref: EFO:0009038 xref: MIM:616974 xref: ORDO:478042 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111472 name: combined oxidative phosphorylation deficiency 9 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. (DO)" [PMID:21786366 "DO"] synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9" EXACT [] synonym: "COXPD9" EXACT [] synonym: "MRPL3-RELATED CONDITION" EXACT [] xref: MIM:614582 xref: ORDO:319509 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111473 name: combined oxidative phosphorylation deficiency 5 alt_id: MIM:611719 def: "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)" [PMID:17873122 "DO", PMID:21189481 "DO"] synonym: "COXPD5" EXACT [] synonym: "hypotonia with lactic acidemia and hyperammonemia" EXACT [] synonym: "MRPS22-RELATED CONDITION" BROAD [] xref: MESH:C567126 xref: ORDO:137908 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111474 name: combined oxidative phosphorylation deficiency 1 alt_id: MIM:609060 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. (DO)" [https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1 "DO"] synonym: "COXPD1" EXACT [] synonym: "early fatal progressive hepatoencephalopathy" EXACT [] synonym: "GFM1-RELATED CONDITION" EXACT [] synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT [] synonym: "hepatoencephalopathy due to COXPD1" EXACT [] xref: MESH:C563797 xref: NCI:C125663 xref: ORDO:137681 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:13413 ! hepatic encephalopathy [Term] id: DOID:0111475 name: combined oxidative phosphorylation deficiency 39 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. (DO)" [PMID:22700954 "DO"] synonym: "COXPD39" EXACT [] synonym: "GFM2-RELATED CONDITION" EXACT [] xref: MIM:618397 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111476 name: combined oxidative phosphorylation deficiency 19 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. (DO)" [PMID:23814038 "DO"] synonym: "COXPD19" EXACT [] synonym: "LYRM4-RELATED CONDITION" EXACT [] synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT [] xref: MIM:615595 xref: ORDO:397593 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111477 name: combined oxidative phosphorylation deficiency 14 def: "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (DO)" [PMID:22499341 "DO", PMID:22833457 "DO"] synonym: "COXPD14" EXACT [] xref: MIM:614946 xref: ORDO:319519 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111478 name: combined oxidative phosphorylation deficiency 20 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. (DO)" [PMID:25058219 "DO"] synonym: "COXPD20" EXACT [] synonym: "VARS2-RELATED CONDITION" EXACT [] synonym: "VARS2-RELATED DISORDERS" EXACT [] xref: MIM:615917 xref: ORDO:420728 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111479 name: combined oxidative phosphorylation deficiency 8 def: "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. (DO)" [PMID:21549344 "DO"] synonym: "AARS2-RELATED CONDITION" BROAD [] synonym: "COXPD8" EXACT [] synonym: "fatal infantile mitochondrial cardiomyopathy" EXACT [] synonym: "hypertrophic mitochondrial cardiomyopathy, fatal infantile" EXACT [] xref: MIM:614096 xref: NCI:C180851 xref: ORDO:319504 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111480 name: combined oxidative phosphorylation deficiency 10 def: "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. (DO)" [PMID:22608499 "DO"] synonym: "COXPD10" EXACT [] synonym: "infantile hypertrophic mitochondrial cardiomyopathy, and lactic acidosis" EXACT [] synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT [] synonym: "MTO1-RELATED CONDITION" EXACT [] xref: MIM:614702 xref: ORDO:314637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111481 name: combined oxidative phosphorylation deficiency 11 def: "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. (DO)" [PMID:23022099 "DO"] synonym: "COXPD11" EXACT [] synonym: "infantile encephaloneuromyopathy, due to mitochondrial translation defect" EXACT [] synonym: "RMND1-related condition" BROAD [] xref: MIM:614922 xref: MONDO:0013969 xref: ORDO:324535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111482 name: combined oxidative phosphorylation deficiency 36 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. (DO)" [PMID:29576219 "DO"] synonym: "COXPD36" EXACT [] synonym: "MRPS2-RELATED CONDITION" EXACT [] xref: MIM:617950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111483 name: combined oxidative phosphorylation deficiency 2 alt_id: MIM:610498 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. (DO)" [PMID:15505824 "DO"] synonym: "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis" EXACT [] synonym: "COXPD2" EXACT [] synonym: "MRPS16-RELATED CONDITION" EXACT [] xref: MESH:C566468 xref: ORDO:254920 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:3650 ! lactic acidosis is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111484 name: combined oxidative phosphorylation deficiency 18 def: "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. (DO)" [PMID:24119684 "DO"] synonym: "COXPD18" EXACT [] synonym: "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" EXACT [] synonym: "SFXN4-RELATED CONDITION" EXACT [] xref: MIM:615578 xref: ORDO:391348 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111485 name: combined oxidative phosphorylation deficiency 24 def: "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)" [PMID:25385316 "DO", PMID:25629079 "DO", PMID:28077841 "DO"] synonym: "COXPD24" EXACT [] synonym: "NARS2-RELATED CONDITION" BROAD [] xref: EFO:0009034 xref: MIM:616239 xref: ORDO:444458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111486 name: combined oxidative phosphorylation deficiency 3 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. (DO)" [PMID:17033963 "DO", PMID:25037205 "DO"] synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" EXACT [] synonym: "COXPD3" EXACT [] synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" EXACT [] synonym: "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" EXACT [] synonym: "fatal mitochondrial disease due to COXPD3" EXACT [] synonym: "TSFM-related condition" EXACT [] xref: MESH:C566467 xref: MIM:610505 xref: MONDO:0012512 xref: ORDO:168566 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:3650 ! lactic acidosis is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2019-03-26T09:16:15Z [Term] id: DOID:0111487 name: combined oxidative phosphorylation deficiency 7 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)" [PMID:20598281 "DO"] synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7" EXACT [] synonym: "COXPD7" EXACT [] synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [] synonym: "severe C12ORF65-related COXPD" EXACT [] xref: MIM:613559 xref: MONDO:0013306 xref: ORDO:254930 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0111488 name: combined oxidative phosphorylation deficiency 31 def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. (DO)" [PMID:27799064 "DO"] synonym: "COXPD31" EXACT [] synonym: "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" EXACT [] synonym: "MIPEP-RELATED CONDITION" EXACT [] xref: MIM:617228 xref: ORDO:478049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111489 name: combined oxidative phosphorylation deficiency 27 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. (DO)" [PMID:25361775 "DO", PMID:25787132 "DO"] synonym: "COXPD27" EXACT [] xref: EFO:0009037 xref: MIM:616672 xref: NCI:C185238 xref: ORDO:477774 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111490 name: combined oxidative phosphorylation deficiency 26 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. (DO)" [PMID:26189817 "DO"] synonym: "COXPD26" EXACT [] synonym: "peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay" EXACT [] synonym: "PNSED" EXACT [] synonym: "TRMT5-RELATED CONDITION" EXACT [] xref: EFO:0009036 xref: MIM:616539 xref: ORDO:477684 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111491 name: combined oxidative phosphorylation deficiency 15 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. (DO)" [PMID:21907147 "DO"] synonym: "COXPD15" EXACT [] synonym: "MTFMT-RELATED CONDITION" BROAD [] synonym: "MTFMT-RELATED DISORDERS" BROAD [] xref: MIM:614947 xref: ORDO:319524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111492 name: combined oxidative phosphorylation deficiency 32 def: "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. (DO)" [PMID:28777931 "DO"] synonym: "COXPD32" EXACT [] synonym: "MRPS34-RELATED CONDITION" EXACT [] xref: MIM:617664 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111493 name: combined oxidative phosphorylation deficiency 12 def: "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. (DO)" [PMID:22492562 "DO", PMID:23008233 "DO"] synonym: "COXPD12" EXACT [] synonym: "EARS2-RELATED CONDITION" EXACT [] synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT [] synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" EXACT [] synonym: "LTBL" EXACT [] xref: GARD:13381 xref: MIM:614924 xref: ORDO:314051 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0111494 name: combined oxidative phosphorylation deficiency 4 alt_id: MIM:610678 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. (DO)" [PMID:17160893 "DO"] synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4" EXACT [] synonym: "COXPD4" EXACT [] synonym: "TUFM-RELATED CONDITION" EXACT [] xref: MESH:C565690 xref: ORDO:254925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111495 name: combined oxidative phosphorylation deficiency 33 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. (DO)" [PMID:28942965 "DO"] synonym: "C1QBP-related condition" EXACT [] synonym: "COXPD33" EXACT [] xref: EFO:0009159 xref: MIM:617713 xref: MONDO:0054677 xref: NCI:C174440 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111496 name: combined oxidative phosphorylation deficiency 17 def: "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. (DO)" [PMID:23849775 "DO"] synonym: "COXPD17" EXACT [] synonym: "ELAC2-RELATED CONDITION" BROAD [] xref: MIM:615440 xref: ORDO:369913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111497 name: combined oxidative phosphorylation deficiency 34 def: "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. (DO)" [PMID:25556185 "DO"] synonym: "COXPD34" EXACT [] synonym: "MRPS7-RELATED CONDITION" EXACT [] synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT [] synonym: "syndromic sensorineural deafness due to COXPD" EXACT [] synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [] xref: MIM:617872 xref: MONDO:0054741 xref: ORDO:457223 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111498 name: combined oxidative phosphorylation deficiency 22 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. (DO)" [PMID:23596069 "DO"] synonym: "ATP5F1A-RELATED CONDITION" BROAD [] synonym: "COXPD22" EXACT [] xref: MIM:616045 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111499 name: combined oxidative phosphorylation deficiency 37 def: "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. (DO)" [PMID:27485409 "DO"] synonym: "COXPD37" EXACT [] synonym: "MICOS13-RELATED CONDITION" EXACT [] synonym: "MITOCHONDRIAL HEPATO-ENCEPHALOPATHY" EXACT [] xref: MIM:618329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111500 name: combined oxidative phosphorylation deficiency 23 def: "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. (DO)" [PMID:25434004 "DO"] synonym: "COXPD23" EXACT [] synonym: "GTPBP3-related condition" EXACT [] xref: EFO:0009033 xref: MIM:616198 xref: MONDO:0014525 xref: NCI:C187986 xref: ORDO:444013 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111501 name: combined oxidative phosphorylation deficiency 29 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. (DO)" [PMID:26626369 "DO"] synonym: "COXPD29" EXACT [] synonym: "TXN2-RELATED CONDITION" EXACT [] xref: MIM:616811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111502 name: combined oxidative phosphorylation deficiency 6 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)" [PMID:20362274 "DO"] synonym: "COXPD6" EXACT [] synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [] synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [] synonym: "severe X-linked mitochondrial encephalomyopathy" EXACT [] synonym: "X-linked mitochondrial encephalomyopathy" EXACT [] xref: MIM:300816 xref: ORDO:238329 is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0111503 name: Li-Fraumeni syndrome 1 alt_id: DOID:9004131 alt_id: MESH:C563754 alt_id: MIM:151623 def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. (DO)" [PMID:1978757 "DO"] synonym: "LFL" NARROW [] synonym: "LFS1" EXACT [] synonym: "LFS3" RELATED [] synonym: "Li-Fraumeni -like syndrome" NARROW [] synonym: "Li-Fraumeni syndrome 3" RELATED [] xref: MESH:C538639 is_a: DOID:3012 ! Li-Fraumeni syndrome [Term] id: DOID:0111504 name: Li-Fraumeni syndrome 2 alt_id: MIM:609265 def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. (DO)" [PMID:11479205 "DO"] synonym: "Breast and colorectal cancer, susceptibility to" RELATED [] synonym: "cancer predisposition syndrome, CHEK2-related" EXACT [] synonym: "LFS2" EXACT [] synonym: "TPDS4" EXACT [] synonym: "tumor predisposition syndrome 4" EXACT [] synonym: "tumor predisposition syndrome 4, breast/prostate/colorectal" EXACT [] xref: MESH:C563755 is_a: DOID:3012 ! Li-Fraumeni syndrome is_a: DOID:9001329 ! Tumor Predisposition Syndrome [Term] id: DOID:0111505 name: palmoplantar keratoderma-deafness syndrome def: "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)" [PMID:10633135 "DO", PMID:1532426 "DO"] synonym: "diffuse palmoplantar keratoderma with deafness" EXACT [] synonym: "focal palmoplantar keratoderma with sensorineural deafness" EXACT [] synonym: "hereditary palmoplantar keratoderma" NARROW [] synonym: "hereditary palmoplantar keratoderma with deafness" EXACT [1] synonym: "Keratoderma palmoplantar deafness" EXACT [] synonym: "Palmoplantar Hyperkeratosis-Deafness Syndrome" EXACT [] synonym: "Palmoplantar Hyperkeratosis-Hearing Loss Syndrome" EXACT [] synonym: "Palmoplantar keratoderma and sensorineural deafness" EXACT [] synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [1] synonym: "palmoplantar keratoderma with deafness" EXACT [] synonym: "PPK-deafness syndrome" EXACT [] synonym: "PPK with deafness" EXACT [] xref: GARD:3094 xref: MESH:C536152 xref: MIM:148350 xref: MONDO:0007852 xref: ORDO:2202 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 [Term] id: DOID:0111506 name: palmoplantar keratoderma-esophageal carcinoma syndrome def: "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. (DO)" [PMID:13579162 "DO", PMID:22265016 "DO"] synonym: "Bennion-Patterson syndrome" EXACT [] synonym: "Howell Evans syndrome" EXACT [] synonym: "keratosis palmaris et plantaris with esophageal cancer" EXACT [] synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [] synonym: "keratosis palmoplantaris with esophageal cancer" EXACT [] synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [] synonym: "palmoplantar keratoderma with esophageal cancer" EXACT [] synonym: "RHBDF2-RELATED CONDITION" EXACT [] synonym: "TOC" EXACT [] synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [] synonym: "tylosis with esophageal cancer" EXACT [] xref: GARD:3102 xref: MESH:C536164 xref: MIM:148500 xref: MONDO:0007856 xref: ORDO:2198 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:0111507 name: Lenz-Majewski hyperostotic dwarfism alt_id: MIM:151050 def: "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. (DO)" [PMID:24241535 "DO"] synonym: "delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis" EXACT [] synonym: "Lenz-Majewski hyperostosis syndrome" EXACT [] synonym: "Lenz-Majewski syndrome" EXACT [] synonym: "LMHD" EXACT [] synonym: "multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis" EXACT [] synonym: "PTDSS1-RELATED CONDITION" EXACT [] xref: GARD:3223 xref: MESH:C537115 xref: ORDO:2658 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111508 name: Torrance type platyspondylic dysplasia alt_id: MIM:151210 def: "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [PMID:14729840 "DO", PMID:448481 "DO"] synonym: "lethal short-limbed platyspondylic dwarfism, Torrance type" EXACT [] synonym: "lethal skeletal dysplasia" EXACT [] synonym: "Platyspondylic Chondrodysplasia, Torrance-Luton Type" EXACT [] synonym: "platyspondylic dysplasia, Torrance-Luton type" EXACT [] synonym: "Platyspondylic Lethal Skeletal Dysplasia, Luton Type" RELATED [] synonym: "Platyspondylic Lethal Skeletal Dysplasia, Torrance Type" EXACT [] synonym: "Platyspondylic Skeletal Dysplasia, Torrance Type" EXACT [] synonym: "PLSDL" RELATED [] synonym: "PLSD-T" EXACT [] synonym: "PLSDT" EXACT [] synonym: "PLSD-TL" EXACT [] synonym: "thanatophoric dysplasia, Luton variant" RELATED [] synonym: "thanatophoric dysplasia, Torrance variant" EXACT [] xref: GARD:4382 xref: MESH:C563627 xref: ORDO:85166 is_a: DOID:13481 ! thanatophoric dysplasia [Term] id: DOID:0111509 name: lymphedema-distichiasis syndrome def: "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. (DO)" [PMID:11078474 "DO"] synonym: "FOXC2-related condition" BROAD [] synonym: "hereditary lymphedema-distichiasis syndrome" EXACT [] synonym: "LPHDST" EXACT [] synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" NARROW [] synonym: "lymphedema with distichiasis" EXACT [] xref: GARD:333 xref: MESH:C537710 xref: MIM:153400 xref: MONDO:0007922 xref: NCI:C128191 xref: ORDO:33001 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema [Term] id: DOID:0111510 name: Marshall syndrome def: "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. (DO)" [PMID:13520885 "DO", PMID:25073711 "DO", PMID:9529347 "DO"] synonym: "deafness, myopia, cataract, saddle nose-Marshall type" EXACT [] synonym: "MRSHS" EXACT [] xref: GARD:6984 xref: MESH:C536025 xref: MIM:154780 xref: MONDO:0007949 xref: NCI:C128115 xref: ORDO:560 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:83 ! cataract is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111511 name: melanoma and neural system tumor syndrome def: "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. (DO)" [PMID:10797439 "DO", PMID:8414022 "DO", PMID:8635060 "DO"] synonym: "cutaneous malignant melanoma and cerebral astrocytoma" EXACT [] synonym: "melanoma-astrocytoma syndrome" EXACT [] xref: GARD:8468 xref: MESH:C536149 xref: MIM:155755 xref: MONDO:0007967 xref: NCI:C176905 xref: ORDO:252206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1909 ! melanoma is_a: DOID:225 ! syndrome is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:0111512 name: metachondromatosis alt_id: MIM:156250 def: "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. (DO)" [PMID:20577567 "DO"] synonym: "METCDS" EXACT [] xref: GARD:3560 xref: MESH:C562938 xref: ORDO:2499 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:0111513 name: metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome def: "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. (DO)" [PMID:23290074 "DO", PMID:7137223 "DO"] synonym: "MDMHB" EXACT [] synonym: "metaphyseal dysplasia, maxillary hypoplasia, brachydactyly" EXACT [] synonym: "metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" EXACT [] synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" EXACT [] synonym: "RUNX2-related condition" BROAD [] xref: GARD:3568 xref: MESH:C563586 xref: MIM:156510 xref: MONDO:0007984 xref: ORDO:2504 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies [Term] id: DOID:0111514 name: metatropic dysplasia alt_id: MIM:156530 def: "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://ghr.nlm.nih.gov/condition/metatropic-dysplasia "DO", PMID:18348257 "DO", PMID:4963592 "DO"] synonym: "metatrophic dysplasia" EXACT [] synonym: "metatropic dwarfism" EXACT [] synonym: "metatropic dysplasia 1" EXACT [] synonym: "metatropic dysplasia type 1" EXACT [] xref: GARD:3571 xref: MESH:C537356 xref: NCI:C175209 xref: ORDO:2635 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111515 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 def: "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. (DO)" [PMID:26094573 "DO"] synonym: "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" EXACT [] synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [] synonym: "autosomal recessive progressive external ophthalmoplegia 2" EXACT [] synonym: "PEOB2" EXACT [] synonym: "RNASEH1-RELATED CONDITION" EXACT [] xref: MIM:616479 xref: ORDO:329336 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive creation_date: 2012-12-11T00:00:00Z [Term] id: DOID:0111516 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 def: "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. (DO)" [PMID:23043144 "DO"] synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT [] synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [] synonym: "PEOB4" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal recessive 4" EXACT [] xref: MIM:617070 xref: ORDO:329314 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive [Term] id: DOID:0111517 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. (DO)" [PMID:10926541 "DO"] synonym: "PEOA2" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 2" EXACT [] xref: MESH:C563750 xref: MIM:609283 xref: MONDO:0012238 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111518 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. (DO)" [PMID:19664747 "DO"] synonym: "autosomal dominant progressive external ophthalmoplegia 5" EXACT [] synonym: "PEOA5" EXACT [] xref: MESH:C567768 xref: MIM:613077 xref: MONDO:0013117 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111519 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 def: "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. (DO)" [PMID:23352259 "DO"] synonym: "DNA2-RELATED CONDITION" BROAD [] synonym: "DNA2-related mitochondrial DNA deletion syndrome" EXACT [] synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [] synonym: "mitochondrial DNA deletion syndrome with progressive myopathy" EXACT [] synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [] synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [] synonym: "PEOA6" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 6" EXACT [] xref: MIM:615156 xref: ORDO:352470 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111520 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. (DO)" [PMID:11431692 "DO"] synonym: "PEOA3" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 3" EXACT [] xref: MESH:C563747 xref: MIM:609286 xref: MONDO:0012241 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111521 name: autosomal dominant progressive external ophthalmoplegia 1 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)" [PMID:11431686 "DO"] synonym: "PEOA1" EXACT [] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1" EXACT [] xref: MESH:C563575 xref: MIM:157640 xref: MONDO:0024528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111522 name: autosomal recessive progressive external ophthalmoplegia 1 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)" [PMID:11431686 "DO"] synonym: "PEOB1" EXACT [] synonym: "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1" EXACT [] xref: MIM:258450 xref: MONDO:0009783 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive [Term] id: DOID:0111523 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. (DO)" [PMID:21937588 "DO"] synonym: "PEOB3" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal recessive 3" EXACT [] synonym: "TK2-related condition" BROAD [] xref: MIM:617069 xref: MONDO:0014898 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:0111524 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. (DO)" [PMID:29290614 "DO"] synonym: "PEOB5" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT [] synonym: "TOP3A-related condition" BROAD [] xref: MIM:618098 xref: MONDO:0020845 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive [Term] id: DOID:0111525 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)" [PMID:16685652 "DO"] synonym: "PEOA4" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 4" EXACT [] xref: MESH:C566437 xref: MIM:610131 xref: MONDO:0012415 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111526 name: Mullerian aplasia and hyperandrogenism alt_id: MIM:158330 def: "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. (DO)" [PMID:15317892 "DO"] synonym: "Mullerian duct failure and hyperandrogenism" EXACT [] synonym: "WNT4 deficiency" EXACT [] synonym: "WNT4-RELATED CONDITION" BROAD [] xref: MESH:C567186 xref: NCI:C120376 xref: ORDO:247768 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11613 ! hyperandrogenism is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:0111527 name: spinal muscular atrophy with progressive myoclonic epilepsy alt_id: MIM:159950 def: "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy "DO", PMID:22703880 "DO"] synonym: "ASAH1-RELATED CONDITION" BROAD [] synonym: "hereditary myoclonus and progressive distal muscular atrophy" EXACT [] synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [] synonym: "hereditary myoclonus with progressive distal muscular atrophy" EXACT [] synonym: "Jankovic Rivera syndrome" EXACT [] synonym: "SMA-PME" EXACT [] synonym: "SMAPME" EXACT [] xref: GARD:3044 xref: GARD:3875 xref: MESH:C537563 xref: ORDO:2590 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060160 ! childhood spinal muscular atrophy is_a: DOID:11720 ! distal myopathy is_a: DOID:891 ! progressive myoclonus epilepsy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0111528 name: Naegeli-Franceschetti-Jadassohn syndrome alt_id: MIM:161000 def: "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis "DO", PMID:16960809 "DO"] synonym: "Naegeli syndrome" EXACT [] synonym: "NFJS" EXACT [] synonym: "NFJ syndrome" EXACT [] xref: GARD:3912 xref: MESH:C538331 xref: ORDO:69087 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11155 ! hypohidrosis is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:0111529 name: familial multiple nevi flammei alt_id: DOID:9006628 def: "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. (DO)" [PMID:16846771 "DO", PMID:6716409 "DO"] synonym: "capillary malformations" EXACT [] synonym: "CMAL" EXACT [] synonym: "CMC" EXACT [] synonym: "Congenital Capillary Malformations" EXACT [] synonym: "congenital capillary malformations, 1" EXACT [] synonym: "familial multiple port-wine stains" EXACT [] synonym: "port-wine stain familial multiple" EXACT [] xref: GARD:3986 xref: MESH:C535816 xref: MESH:C562760 xref: MIM:163000 xref: MONDO:0008094 xref: ORDO:624 is_a: DOID:1271 ! capillary disease is_a: DOID:9001616 ! Port-Wine Stain is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:0111530 name: linear nevus sebaceous syndrome alt_id: MIM:163200 def: "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. (DO)" [PMID:17366580 "DO", PMID:1918493 "DO", PMID:22683711 "DO", PMID:24006476 "DO"] synonym: "epidermal nevus syndrome" EXACT [] synonym: "Feuerstein Mims syndrome" EXACT [] synonym: "inflammatory linear verrucose epidermal nevus" EXACT [] synonym: "inflammatory linear verrucous epidermal naevus" EXACT [] synonym: "Jadassohn Nevus Phakomatosis" EXACT [] synonym: "Jadassohn Nevus Sebaceus" EXACT [] synonym: "Jadassohn Sebaceous Nevus" EXACT [] synonym: "JNP" EXACT [] synonym: "Linear Sebaceous Nevus" EXACT [] synonym: "Linear Verrucous Epidermal Nevus" EXACT [] synonym: "Nevus Sebaceus of Jadassohn" EXACT [] synonym: "nevus sebaceus syndrome" EXACT [] synonym: "Organoid Nevus Phakomatoses" EXACT [] synonym: "Organoid Nevus Phakomatosis" EXACT [] synonym: "organoid nevus syndrome" EXACT [] synonym: "Schimmelpenning Feuerstein Mims Syndrome" EXACT [] synonym: "Schimmelpenning Syndrome" EXACT [] synonym: "sebaceous nevus of Jadassohn" EXACT [] synonym: "SFM" EXACT [] synonym: "SFM syndrome" EXACT [] synonym: "Solomon syndrome" EXACT [] synonym: "verrucous epidermal nevus" EXACT [] synonym: "verrucous nevus" EXACT [] xref: EFO:1001841 xref: GARD:10291 xref: MESH:D054000 xref: ORDO:2612 is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9002969 ! Nevus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111531 name: bilateral optic nerve hypoplasia alt_id: DOID:9001098 def: "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [PMID:12721955 "DO"] synonym: "bilateral optic nerve aplasia" NARROW [] synonym: "familial bilateral optic nerve hypoplasia" EXACT [] synonym: "isolated optic nerve hypoplasia/aplasia" EXACT [] synonym: "ONH" EXACT [] xref: GARD:8419 xref: ICD10CM:H47.03 xref: ICD9CM:377.43 xref: MESH:C537130 xref: MESH:C563492 xref: MESH:C563493 xref: MESH:D000080344 xref: MIM:165550 xref: NCI:C101268 xref: NCI:C98999 xref: ORDO:137902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060857 ! septooptic dysplasia is_a: DOID:1891 ! optic nerve disease created_by: mtutaj creation_date: 2019-02-25T12:06:43Z [Term] id: DOID:0111532 name: osteoglophonic dysplasia def: "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. (DO)" [https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia "DO", PMID:15625620 "DO", PMID:7422392 "DO"] synonym: "Fairbank-Keats syndrome" EXACT [] synonym: "OGD" EXACT [] synonym: "osteoglophonic dwarfism" EXACT [] xref: GARD:4142 xref: MESH:C536050 xref: MIM:166250 xref: MONDO:0008150 xref: ORDO:2645 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111533 name: gnathodiaphyseal dysplasia alt_id: MIM:166260 def: "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. (DO)" [https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia "DO", PMID:15124103 "DO", PMID:23047743 "DO"] synonym: "GDD" EXACT [] synonym: "gnathodiaphyseal sclerosis" EXACT [] synonym: "Levin syndrome 2" EXACT [] synonym: "osteogenesis imperfecta, Levin type" EXACT [] synonym: "osteogenesis imperfecta with unusual skeletal lesions" EXACT [] xref: GARD:8698 xref: MESH:C536039 xref: ORDO:53697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:9000066 ! Jaw Abnormalities created_by: rgd creation_date: 2016-01-13T00:00:00Z [Term] id: DOID:0111534 name: multicentric carpotarsal osteolysis syndrome alt_id: MIM:166300 def: "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO)" [PMID:22387013 "DO", PMID:3041835 "DO"] synonym: "carpal osteolysis" NARROW [] synonym: "hereditary osteolysis of carpal bones with or without nephropathy" EXACT [] synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [] synonym: "MAFB-RELATED CONDITION" BROAD [] synonym: "MCTO" EXACT [] synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [] synonym: "multicentric osteolysis, autosomal dominant" EXACT [] synonym: "multicentric osteolysis nephropathy" EXACT [] xref: GARD:3818 xref: MESH:C567171 xref: NCI:C178416 xref: ORDO:2774 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006569 ! Osteolysis Hereditary Multicentric [Term] id: DOID:0111535 name: progressive osseous heteroplasia alt_id: MIM:166350 def: "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. (DO)" [https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia "DO", PMID:11784876 "DO", PMID:8126048 "DO"] synonym: "cutaneous ossification" EXACT [] synonym: "ectopic ossification familial type" EXACT [] synonym: "familial ectopic ossification" EXACT [] synonym: "osteodermia" EXACT [] synonym: "osteoma cutis" EXACT [] synonym: "osteosis cutis" EXACT [] synonym: "POH" EXACT [] xref: GARD:109 xref: MESH:C562735 xref: NCI:C132062 xref: ORDO:2762 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9003295 ! Heterotopic Ossification is_a: DOID:9007168 ! Genetic Skin Diseases created_by: mtutaj creation_date: 2019-02-26T09:11:43Z [Term] id: DOID:0111536 name: Buschke-Ollendorff syndrome def: "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. (DO)" [https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome "DO", PMID:15489854 "DO", PMID:19438932 "DO"] synonym: "BOS" EXACT [] synonym: "dermatofibrosis lenticularis disseminata" EXACT [] synonym: "DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED" RELATED [] synonym: "Dermatofibrosis lenticularis disseminata with osteopoikilosis" EXACT [] synonym: "Dermatoosteopoikilosis" EXACT [] synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [] synonym: "LEMD3-RELATED CONDITION" EXACT [] synonym: "osteopathia condensans disseminata" EXACT [] synonym: "OSTEOPOIKILOSIS, ISOLATED" RELATED [] synonym: "osteopoikilosis with melorheostosis" RELATED [] synonym: "OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS" RELATED [] xref: GARD:1044 xref: MESH:C537415 xref: MIM:166700 xref: MONDO:0008157 xref: ORDO:1306 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11991 ! Osteopoikilosis is_a: DOID:225 ! syndrome is_a: DOID:9007168 ! Genetic Skin Diseases created_by: mtutaj creation_date: 2019-10-08T11:57:28Z [Term] id: DOID:0111537 name: paroxysmal extreme pain disorder alt_id: MIM:167400 def: "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (DO)" [https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder "DO", PMID:17145499 "DO"] synonym: "familial rectal pain" EXACT [] synonym: "PEPD" EXACT [] synonym: "PEXPD" EXACT [] synonym: "submandibular, ocular, and rectal pain with flushing" EXACT [] xref: GARD:12854 xref: MESH:C563475 xref: NCI:C125385 xref: ORDO:46348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:9000641 ! Pain created_by: rgd creation_date: 2015-06-30T00:00:00Z [Term] id: DOID:0111538 name: paramyotonia congenita of Von Eulenburg def: "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. (DO)" [https://ghr.nlm.nih.gov/condition/paramyotonia-congenita "DO", PMID:1316765 "DO"] synonym: "Eulenburg disease" EXACT [] synonym: "myotonia congenita intermittens" EXACT [] synonym: "paralysis periodica paramyotonica" EXACT [] synonym: "PARAMYOTONIA CONGENITA" EXACT [] synonym: "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS" NARROW [] synonym: "paramyotonia congenita without cold paralysis" NARROW [] synonym: "PMC" EXACT [] synonym: "Von Eulenburg paramyotonia congenita" EXACT [] xref: GARD:7325 xref: ICD10CM:G71.19 xref: MIM:168300 xref: ORDO:684 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:450 ! myotonic disease [Term] id: DOID:0111539 name: parastremmatic dwarfism alt_id: MIM:168400 def: "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [PMID:20503319 "DO", PMID:4992387 "DO"] synonym: "parastremmatic dysplasia" EXACT [] xref: GARD:4222 xref: MESH:C537172 xref: ORDO:2646 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4667 ! kyphosis is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111540 name: prolidase deficiency def: "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (DO)" [https://ghr.nlm.nih.gov/condition/prolidase-deficiency "DO", PMID:18340504 "DO", PMID:1972707 "DO"] synonym: "hyperimidodipeptiduria" EXACT [] synonym: "hyperimidodipeptidurias" EXACT [] synonym: "imidodipeptidase deficiency" EXACT [] synonym: "PEPD-related condition" BROAD [] synonym: "peptidase deficiency" EXACT [] synonym: "prolidase deficiencies" EXACT [] xref: GARD:7473 xref: MESH:D056732 xref: MIM:170100 xref: MONDO:0008221 xref: NCI:C85029 xref: ORDO:742 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder created_by: slaulede creation_date: 2019-01-15T17:42:02Z [Term] id: DOID:0111541 name: pigmented paravenous chorioretinal atrophy def: "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. (DO)" [PMID:15623792 "DO", PMID:3778279 "DO"] synonym: "PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY" EXACT [] synonym: "PPCRA" EXACT [] synonym: "PPRCA" EXACT [] xref: MESH:C566801 xref: MIM:172870 xref: MONDO:0008246 xref: ORDO:251295 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8466 ! retinal degeneration is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0111542 name: familial expansile osteolysis alt_id: MIM:174810 def: "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. (DO)" [PMID:10615125 "DO", PMID:12362049 "DO", PMID:17447113 "DO"] synonym: "EOF" EXACT [] synonym: "FEO" EXACT [] synonym: "HEPOD" EXACT [] synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [] synonym: "McCabe disease" EXACT [] xref: GARD:9168 xref: MESH:C536335 xref: ORDO:85195 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:0111543 name: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome alt_id: MIM:175050 def: "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. (DO)" [PMID:15031030 "DO", PMID:20101697 "DO"] synonym: "generalized juvenile polyposis with pulmonary arteriovenous malformation" EXACT [] synonym: "hereditary hemorrhagic telangiectasia with juvenile polyposis coli" EXACT [] synonym: "JP/HHT SYNDROME" EXACT [] synonym: "JP-HHT" EXACT [] synonym: "JPHHT Syndrome" EXACT [] synonym: "JPHT" EXACT [] synonym: "JPS/HHT" EXACT [] synonym: "JPSHHT" EXACT [] synonym: "Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia" EXACT [] xref: MESH:C563412 is_a: DOID:0050787 ! juvenile polyposis syndrome is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia [Term] id: DOID:0111544 name: Guttmacher syndrome alt_id: MIM:176305 def: "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. (DO)" [PMID:11968094 "DO", PMID:8484413 "DO"] synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" EXACT [] synonym: "HOXA13-RELATED CONDITION" BROAD [] synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" EXACT [] synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [] xref: GARD:4470 xref: MESH:C538278 xref: ORDO:2957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10892 ! hypospadias is_a: DOID:225 ! syndrome is_a: DOID:9003071 ! Postaxial Polydactyly is_a: DOID:9005329 ! Preaxial Polydactyly is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111545 name: familial male-limited precocious puberty def: "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty "DO", PMID:7692306 "DO"] synonym: "familial gonadotrophin-independent sexual precocity" EXACT [] synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [] synonym: "familial gonadotropin-independent sexual precocity" EXACT [] synonym: "familial precocious puberty" EXACT [] synonym: "familial testotoxicosis" EXACT [] synonym: "FMPP" EXACT [] synonym: "Gonadotrophin-Independent Precocious Puberty" EXACT [] synonym: "Idiopathic sexual precocity" EXACT [] synonym: "LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY" NARROW [] synonym: "LHCGR-RELATED CONDITION" BROAD [] synonym: "Precocious Pseudopuberty" EXACT [] synonym: "precocious puberty, male limited" EXACT [] synonym: "pubertas praecox" EXACT [] synonym: "sexual precocity" EXACT [] synonym: "testotoxicosis" EXACT [] xref: GARD:4475 xref: MESH:C536961 xref: MIM:176410 xref: MONDO:0008303 xref: NCI:C113219 xref: ORDO:3000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:0111546 name: Currarino syndrome def: "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. (DO)" [PMID:6789651 "DO", PMID:9843207 "DO"] synonym: "Currarino triad" EXACT [] synonym: "hereditary sacral agenesis with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation" NARROW [] synonym: "MNX1-related condition" BROAD [] synonym: "sacral agenesis syndrome" NARROW [] synonym: "SCRA1" NARROW [] xref: GARD:1626 xref: MESH:C536221 xref: MIM:176450 xref: MONDO:0008305 xref: ORDO:1552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:327 ! syringomyelia is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:0111547 name: retinal arterial tortuosity def: "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. (DO)" [PMID:12745002 "DO", PMID:25228067 "DO"] synonym: "RATOR" EXACT [] synonym: "retinal arteriolar tortuosity" EXACT [] synonym: "RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY" EXACT [] synonym: "tortuosity of retinal arteries" EXACT [] xref: MIM:180000 xref: MONDO:0008373 xref: ORDO:75326 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050828 ! artery disease is_a: DOID:5679 ! retinal disease is_a: DOID:9000062 ! Retinal Hemorrhage is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:0111548 name: ring dermoid of cornea def: "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)" [PMID:15591271 "DO", PMID:7387508 "DO"] synonym: "bilateral, annular limbal dermoids with corneal and conjunctival extension" EXACT [] synonym: "RDC" EXACT [] synonym: "ring dermoid syndrome" EXACT [] xref: GARD:9696 xref: MESH:C535684 xref: MIM:180550 xref: MONDO:0008387 xref: ORDO:91481 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10124 ! corneal disease is_a: DOID:2658 ! dermoid cyst is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:0111549 name: aplasia of lacrimal and salivary glands alt_id: MIM:180920 def: "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)" [PMID:15654336 "DO"] synonym: "absence of salivary glands" NARROW [] synonym: "ALSG" EXACT [] synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [] synonym: "parotid aplasia or hypoplasia" NARROW [] xref: ICD9CM:750.21 xref: MESH:C562407 xref: ORDO:86815 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10854 ! salivary gland disease is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111550 name: scalp-ear-nipple syndrome def: "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. (DO)" [https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome "DO", PMID:23541344 "DO"] synonym: "Finlay-Marks syndrome" EXACT [] synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" EXACT [] synonym: "KCTD1-related condition" BROAD [] synonym: "SENS" EXACT [] synonym: "SEN syndrome" EXACT [] xref: GARD:159 xref: MESH:C536623 xref: MIM:181270 xref: MONDO:0008404 xref: ORDO:2036 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10892 ! hypospadias is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0111551 name: neurogenic scapuloperoneal syndrome Kaeser type def: "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. (DO)" [PMID:17439987 "DO"] synonym: "Kaeser syndrome" EXACT [] synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" EXACT [] synonym: "scapuloperoneal syndrome type Kaeser" EXACT [] synonym: "SCPNK" EXACT [] synonym: "Stark-Kaeser syndrome" EXACT [] xref: GARD:10312 xref: MESH:C566695 xref: MIM:181400 xref: MONDO:0008407 xref: ORDO:85146 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:423 ! myopathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0111552 name: scapuloperoneal spinal muscular atrophy alt_id: MIM:271220 def: "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [PMID:1520078 "DO", PMID:20037587 "DO"] synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [] synonym: "scapuloperoneal form of spinal muscular atrophy" EXACT [] synonym: "scapuloperoneal neuronopathy" EXACT [] synonym: "spinal muscular atrophy, scapuloperoneal form" EXACT [] synonym: "SPSMA" EXACT [] xref: EFO:1001992 xref: GARD:10314 xref: ICD10CM:G12.1 xref: MIM:181405 xref: ORDO:431255 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111553 name: spondyloepiphyseal dysplasia Maroteaux type def: "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [PMID:20503319 "DO", PMID:2229114 "DO"] synonym: "pseudo-Morquio syndrome, type 2" EXACT [] synonym: "SEDM" EXACT [] synonym: "SED, Maroteaux type" EXACT [] synonym: "spondyloepiphyseal dysplasia of Maroteaux" EXACT [] xref: GARD:994 xref: MIM:184095 xref: MONDO:0008473 xref: ORDO:263482 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0111554 name: spondylometaphyseal dysplasia Kozlowski type def: "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [PMID:19232556 "DO"] synonym: "dysmorphism arthrogryposis skeletal maturation advanced" EXACT [] synonym: "Jequier-Kozlowski syndrome" EXACT [] synonym: "skeletal dysplasia Jequier-Kozlowski type" EXACT [] synonym: "SMDK" EXACT [] synonym: "SMD, Kozlowski Type" EXACT [] xref: GARD:3047 xref: MESH:C535797 xref: MIM:184252 xref: MONDO:0008477 xref: ORDO:93314 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0111555 name: Alkuraya-Kucinskas syndrome def: "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. (DO)" [PMID:25558065 "DO", PMID:29290337 "DO"] synonym: "ALKKUCS" EXACT [] synonym: "BLTP1-related condition" BROAD [] xref: MIM:617822 xref: MONDO:0060631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:0111556 name: steatocystoma multiplex def: "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex "DO", PMID:18098741 "DO", PMID:9008238 "DO"] synonym: "KRT17-RELATED CONDITION" BROAD [] synonym: "Multiple Sebaceous Cyst" EXACT [] synonym: "Multiple Sebaceous Cysts" EXACT [] synonym: "Multiplex Steatocystomas" EXACT [] synonym: "Steatocystoma Multiplices" EXACT [] xref: GARD:5003 xref: MESH:D062685 xref: MIM:184500 xref: ORDO:841 is_a: DOID:0050449 ! pachyonychia congenita is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:0111557 name: Charcot-Marie-Tooth disease type 2A2B def: "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)" [PMID:21715711 "DO"] synonym: "AR-CMT2, Ouvrier type" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal recessive, type 2A2B" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, type 2A2, autosomal recessive" NARROW [] synonym: "axonal Charcot-Marie-Tooth disease, type 2A2B" EXACT [] synonym: "CMT2A2B" EXACT [] synonym: "SEOAN due to MFN2 deficiency" EXACT [] synonym: "severe early-onset axonal neuropathy due to MFN2 deficiency" EXACT [] xref: MIM:617087 xref: ORDO:90118 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004551 ! Charcot-Marie-Tooth Disease Type 2A2 [Term] id: DOID:0111558 name: Charcot-Marie-Tooth disease type 2DD def: "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. (DO)" [PMID:29499166 "DO"] synonym: "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2" EXACT [] synonym: "ATP1A1-related CMT2" EXACT [] synonym: "ATP1A1-RELATED CONDITION" BROAD [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2DD" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2DD" EXACT [] synonym: "CMT2DD" EXACT [] xref: MIM:618036 xref: MONDO:0054833 xref: ORDO:521414 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111559 name: Charcot-Marie-Tooth disease type 2EE def: "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (DO)" [PMID:26437932 "DO", PMID:30298599 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, type 2EE" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2EE" EXACT [] synonym: "CMT2EE" EXACT [] synonym: "MPV17-RELATED CONDITION" BROAD [] xref: MIM:618400 xref: NCI:C212863 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111560 name: Charcot-Marie-Tooth disease type 1G def: "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. (DO)" [PMID:26828946 "DO", PMID:27009151 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" EXACT [] synonym: "Charcot-Marie-Tooth Disease Type IG" EXACT [] synonym: "CMT1G" EXACT [] synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT [] synonym: "PMP2-related Charcot-Marie-Tooth neuropathy type 1" EXACT [] synonym: "PMP2-related CMT1" EXACT [] synonym: "PMP2-RELATED CONDITION" EXACT [] synonym: "PMP2-related hereditary motor and sensory neuropathy type 1" EXACT [] xref: EFO:0010266 xref: MIM:618279 xref: ORDO:476394 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease created_by: slaulede creation_date: 2019-01-15T17:45:30Z [Term] id: DOID:0111561 name: stiff skin syndrome alt_id: MIM:184900 def: "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. (DO)" [PMID:20375004 "DO"] synonym: "SSKS" EXACT [] xref: GARD:5025 xref: MESH:C566112 xref: NCI:C118636 xref: ORDO:2833 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006836 ! Contracture is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111562 name: overhydrated hereditary stomatocytosis alt_id: MIM:185000 def: "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. (DO)" [PMID:18931342 "DO", PMID:21849667 "DO"] synonym: "OHS" EXACT [] synonym: "OHST" EXACT [] synonym: "potassium-sodium disorder of erythrocyte" EXACT [] synonym: "RHAG-RELATED CONDITION" BROAD [] synonym: "Stomatocytosis I" EXACT [] synonym: "stomatocytosisIOHST" EXACT [] xref: GARD:4183 xref: MESH:C566111 xref: ORDO:3203 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2361 ! macrocytic anemia is_a: DOID:589 ! congenital hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9006795 ! Acid-Base Imbalance created_by: rgd creation_date: 2017-07-11T00:00:00Z [Term] id: DOID:0111563 name: Sturge-Weber syndrome def: "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome "DO", PMID:15165630 "DO", PMID:23656586 "DO"] synonym: "angiomatosis oculoorbital-thalamic syndrome" EXACT [] synonym: "encephalofacial angiomatosis" EXACT [] synonym: "encephalofacial hemangiomatosis syndrome" EXACT [] synonym: "encephalotrigeminal angiomatosis" EXACT [] synonym: "fourth phacomatosis" EXACT [] synonym: "leptomeningeal angiomatosis" EXACT [] synonym: "meningeal capillary angiomatosis" EXACT [] synonym: "meningofacial angiomatosis-cerebral calcification syndrome" EXACT [] synonym: "meningo oculo facial angiomatosis" EXACT [] synonym: "Neuroretinoangiomatosis" EXACT [] synonym: "Parkes Weber Syndrome" EXACT [] synonym: "PKWS" EXACT [] synonym: "Sturge's Syndrome" EXACT [] synonym: "Sturge Disease" EXACT [] synonym: "Sturge Kalischer Weber Syndrome" EXACT [] synonym: "Sturge syndrome" EXACT [] synonym: "Sturge Weber Dimitri syndrome" EXACT [] synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [] synonym: "Sturge Weber Krabbe syndrome" EXACT [] synonym: "Sturge-Weber phakomatosis" EXACT [] synonym: "SWS" EXACT [] xref: GARD:7706 xref: MESH:D013341 xref: MIM:185300 xref: MONDO:0008501 xref: NCI:C3391 xref: ORDO:3205 is_a: DOID:255 ! hemangioma is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9004079 ! Angiomatosis [Term] id: DOID:0111564 name: hypoplastic or aplastic tibia with polydactyly alt_id: MESH:C535564 alt_id: MESH:C566046 def: "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [PMID:19847792 "DO"] synonym: "absence of tibia with polydactyly" EXACT [] synonym: "absent tibia-polydactyly syndrome" EXACT [] synonym: "hypoplasia of tibia with polydactyly" EXACT [] synonym: "hypoplasia or aplasia of tibia with polydactyly" EXACT [] synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT [] synonym: "polydactyly with absent tibia" EXACT [] synonym: "THYP" EXACT [] synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" EXACT [] synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" EXACT [] synonym: "tibial hypoplasia or aplasia with polydactyly" EXACT [] synonym: "Werner mesomelic syndrome" EXACT [] synonym: "WMS" EXACT [] xref: GARD:8309 xref: MIM:188740 xref: ORDO:3332 xref: ORDO:988 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia is_a: DOID:9000751 ! Absence of Tibia [Term] id: DOID:0111565 name: trichodontoosseous syndrome alt_id: MIM:190320 def: "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. (DO)" [PMID:22671030 "DO"] synonym: "DLX3-RELATED CONDITION" BROAD [] synonym: "TDO" EXACT [] synonym: "TDO syndrome" EXACT [] synonym: "tricho-dento-osseous syndrome" EXACT [] xref: GARD:7799 xref: MESH:C536549 xref: ORDO:3352 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111566 name: familial isolated trichomegaly alt_id: DOID:9001840 def: "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. (DO)" [PMID:24989505 "DO"] synonym: "FGF5-RELATED CONDITION" EXACT [] synonym: "long eyelashes" EXACT [] synonym: "TCMGLY" EXACT [] synonym: "trichomegaly" EXACT [] xref: MIM:190330 xref: ORDO:411788 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:421 ! hair disease is_a: DOID:530 ! eyelid disease [Term] id: DOID:0111567 name: retinal vasculopathy with cerebral leukodystrophy def: "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. (DO)" [PMID:17660820 "DO"] synonym: "CRV" EXACT [] synonym: "hereditary cerebroretinal vasculopathy" EXACT [] synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [] synonym: "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" EXACT [] synonym: "RVCL" EXACT [] synonym: "RVCL-S" EXACT [] synonym: "RVCLS" EXACT [] synonym: "vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena" EXACT [] xref: GARD:1217 xref: MESH:C566007 xref: MIM:192315 xref: MONDO:0008641 xref: ORDO:247691 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:178 ! vascular disease is_a: DOID:5679 ! retinal disease is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:0111568 name: congenital vertical talus alt_id: MIM:192950 def: "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. (DO)" [PMID:15368082 "DO"] synonym: "Charcot-Marie-Tooth Disease, Foot Deformity of" EXACT [] synonym: "congenital convex foot" EXACT [] synonym: "congenital rocker-bottom foot" EXACT [] synonym: "CVT" EXACT [] synonym: "HOXD10-RELATED DISORDER" EXACT [] synonym: "pes valgus, congenital convex" EXACT [] synonym: "rocker-bottom foot" EXACT [] synonym: "rocker-bottom foot deformity" EXACT [] xref: GARD:5488 xref: MESH:C536345 xref: MESH:C564179 xref: ORDO:178382 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:0111569 name: autosomal dominant vitreoretinochoroidopathy alt_id: MIM:193220 def: "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. (DO)" [PMID:15452077 "DO", PMID:7065944 "DO"] synonym: "ADVIRC" EXACT [] synonym: "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma" BROAD [] synonym: "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2" NARROW [] synonym: "MRCS" BROAD [] synonym: "MRCS2" NARROW [] synonym: "Vitreoretinochoroidopathy" EXACT [] synonym: "Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos" EXACT [] synonym: "Vitreoretinochoroidopathy dominant" EXACT [] synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" EXACT [] synonym: "VRCP" EXACT [] synonym: "VRCP autosomal dominant" EXACT [] xref: GARD:5507 xref: MESH:C536352 xref: ORDO:3086 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1417 ! choroid disease is_a: DOID:8500 ! hereditary retinal dystrophy [Term] id: DOID:0111570 name: snowflake vitreoretinal degeneration alt_id: MIM:193230 def: "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. (DO)" [PMID:18179896 "DO", PMID:4812083 "DO"] synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" EXACT [] synonym: "SVD" EXACT [] synonym: "vitreoretinal degeneration, Snowflake type" EXACT [] xref: GARD:9706 xref: MESH:C536677 xref: ORDO:91496 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8466 ! retinal degeneration is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:0111571 name: Weyers acrofacial dysostosis alt_id: MIM:193530 def: "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. (DO)" [https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis "DO", PMID:10700184 "DO", PMID:16404586 "DO", PMID:9399901 "DO"] synonym: "acrodental dysostosis of Weyers" EXACT [] synonym: "acrofacial dysostosis of Weyers" EXACT [] synonym: "acrofacial dysostosis, Weyers type" EXACT [] synonym: "Curry Hall syndrome" EXACT [] synonym: "EVC-RELATED DISORDER" BROAD [] synonym: "WAD" EXACT [] synonym: "Weyers acrodental dysostosis" EXACT [] xref: GARD:497 xref: MESH:C536695 xref: ORDO:952 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0111572 name: familial woolly hair syndrome def: "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. (DO)" [PMID:19365138 "DO"] synonym: "congenital woolly hair" EXACT [] synonym: "familial wooly hair syndrome" EXACT [] synonym: "frizzy hair syndrome" EXACT [] synonym: "hereditary woolly hair syndrome" EXACT [] synonym: "hereditary wooly hair syndrome" EXACT [] synonym: "woolly hair" EXACT [] synonym: "woolly hair syndrome" EXACT [] synonym: "wooly hair" EXACT [] xref: GARD:5597 xref: MESH:C536745 xref: ORDO:170 is_a: DOID:421 ! hair disease created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0111573 name: autosomal dominant woolly hair def: "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)" [PMID:20346438 "DO"] synonym: "ADWH" EXACT [] xref: MIM:194300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111572 ! familial woolly hair syndrome [Term] id: DOID:0111574 name: autosomal recessive woolly hair 3 def: "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. (DO)" [PMID:26160856 "DO"] synonym: "ARWH3" EXACT [] synonym: "KRT25-related condition" BROAD [] synonym: "WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS" EXACT [] xref: MIM:616760 xref: MONDO:0014765 is_a: DOID:4535 ! hypotrichosis is_a: DOID:9001083 ! Autosomal Recessive Woolly Hair [Term] id: DOID:0111575 name: dehydrated hereditary stomatocytosis def: "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. (DO)" [PMID:22529292 "DO"] synonym: "desiccytosis gardos" EXACT [] synonym: "DHS" EXACT [] synonym: "hereditary desiccytosis" EXACT [] synonym: "hereditary xerocytosis" EXACT [] synonym: "xerocytosis gardos" EXACT [] xref: GARD:5623 xref: MESH:C536764 xref: ORDO:3202 is_a: DOID:589 ! congenital hemolytic anemia created_by: slaulede creation_date: 2018-04-16T17:54:10Z [Term] id: DOID:0111576 name: dehydrated hereditary stomatocytosis 1 alt_id: MIM:194380 def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. (DO)" [PMID:22529292 "DO"] synonym: "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" EXACT [] synonym: "Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema" EXACT [] synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis" EXACT [] synonym: "DHS1" EXACT [] synonym: "familial pseudohyperkalemia 1, due to red cell leak" EXACT [] synonym: "pseudohyperkalemia Edinburgh" EXACT [] synonym: "PSHK1" EXACT [] xref: MESH:C566369 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis is_a: DOID:9001961 ! Hyperkalemia is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:0111577 name: dehydrated hereditary stomatocytosis 2 def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. (DO)" [PMID:26148990 "DO"] synonym: "DHS2" EXACT [] synonym: "KCNN4-RELATED CONDITION" EXACT [] xref: MIM:616689 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis [Term] id: DOID:0111578 name: Gillespie syndrome def: "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. (DO)" [PMID:27108797 "DO", PMID:27108798 "DO"] synonym: "aniridia, cerebellar ataxia, and mental deficiency" EXACT [] synonym: "aniridia, cerebellar ataxia, and mental retardation" EXACT [] synonym: "aniridia-cerebellar ataxia-intellectual disability syndrome" EXACT [] synonym: "aniridia, cerebellar ataxia, mental deficiency" EXACT [] synonym: "GLSP" EXACT [] synonym: "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA" BROAD [] synonym: "partial aniridia-cerebellar ataxia-mental retardation" EXACT [] synonym: "partial aniridia-cerebellar ataxia-oligophrenia" EXACT [] synonym: "spinocerebellar ataxia, ITPR1-related" NARROW [] xref: GARD:13 xref: MESH:C536370 xref: MIM:206700 xref: MONDO:0008795 xref: OMIA:002097 xref: ORDO:1065 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:12271 ! aniridia is_a: DOID:225 ! syndrome [Term] id: DOID:0111579 name: asthma, nasal polyps, and aspirin intolerance def: "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. (DO)" [PMID:15496426 "DO", PMID:15806396 "DO", PMID:9393345 "DO"] synonym: "ASA Triad" EXACT [] synonym: "ASTHMA AND NASAL POLYPS" NARROW [] synonym: "ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO" NARROW [] xref: MESH:C565935 xref: MIM:208550 xref: MONDO:0008834 is_a: DOID:0080822 ! aspirin-induced respiratory disease is_a: DOID:9001472 ! Nasal Polyps [Term] id: DOID:0111580 name: Behr syndrome alt_id: MIM:210000 def: "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [PMID:6747661 "DO"] synonym: "Abortive cerebellar ataxia (BEHRS)" EXACT [] synonym: "BEHRS" EXACT [] synonym: "infantile hereditary optic atrophy, Behr complicated form of" EXACT [] synonym: "infantile hereditary optic atrophy, with neurologic abnormalities" EXACT [] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" EXACT [] xref: GARD:849 xref: MESH:C537669 xref: NCI:C177251 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004866 ! Ataxia is_a: DOID:9006743 ! Spasm created_by: mtutaj creation_date: 2019-05-01T11:58:09Z [Term] id: DOID:0111581 name: C syndrome alt_id: DOID:9007360 def: "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. (DO)" [PMID:17847009 "DO"] synonym: "CD96-related condition" BROAD [] synonym: "Opitz C trigonocephaly" EXACT [] synonym: "Opitz trigonocephaly C syndrome" EXACT [] synonym: "Opitz trigonocephaly syndrome" EXACT [] synonym: "OTCS" EXACT [] synonym: "trigonocephaly C syndrome" EXACT [] synonym: "trigonocephaly syndrome" EXACT [] xref: GARD:5978 xref: MESH:C537418 xref: MIM:211750 xref: MONDO:0008893 xref: ORDO:1308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:37 ! skin disease is_a: DOID:9001487 ! Facies is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0111582 name: hereditary arterial and articular multiple calcification syndrome alt_id: MIM:211800 def: "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. (DO)" [PMID:21288095 "DO"] synonym: "ACDC" EXACT [] synonym: "arterial calcification and distal joint calcification" EXACT [] synonym: "arterial calcification due to CD73 deficiency" EXACT [] synonym: "arterial calcification due to deficiency of CD73" EXACT [] synonym: "calcification of joints and arteries" EXACT [] synonym: "CALJA" EXACT [] synonym: "NT5E-RELATED CONDITION" EXACT [] xref: GARD:10762 xref: MESH:C565891 xref: NCI:C201591 xref: ORDO:289601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:178 ! vascular disease is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy [Term] id: DOID:0111583 name: carboxypeptidase N deficiency def: "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. (DO)" [PMID:12560874 "DO", PMID:7437116 "DO"] synonym: "anaphylotoxin inactivator deficiency" EXACT [] synonym: "CPND" EXACT [] synonym: "deficiency of carboxypeptidase B" EXACT [] xref: MESH:C562876 xref: MIM:212070 xref: MONDO:08910 xref: NCI:C132196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2345 ! plasma protein metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111584 name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome alt_id: MESH:C535580 alt_id: MESH:C535703 def: "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [PMID:12927431 "DO", PMID:19283854 "DO"] synonym: "cardiogenital syndrome" EXACT [] synonym: "CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE" EXACT [] synonym: "cardiomyopathy eith primary testicular failure" EXACT [] synonym: "CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE" EXACT [] synonym: "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome" EXACT [] synonym: "congestive cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "genital anomaly with cardiomyopathy" EXACT [] synonym: "Malouf syndrome" EXACT [] synonym: "Najjar syndrome" EXACT [] xref: GARD:3373 xref: MIM:212112 xref: NCI:C174217 xref: ORDO:2229 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:225 ! syndrome is_a: DOID:9006138 ! Laminopathies created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0111585 name: carnitine-acylcarnitine translocase deficiency alt_id: MIM:212138 def: "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. (DO)" [https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency "DO", PMID:15363639 "DO", PMID:9399886 "DO"] synonym: "CACTD" EXACT [] synonym: "CACT Deficiency" EXACT [] synonym: "Carnitine-Acylcarnitine Carrier Deficiency" EXACT [] synonym: "SLC25A20-RELATED CONDITION" EXACT [] xref: GARD:1123 xref: MESH:C562812 xref: NCI:C133086 xref: ORDO:159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111586 name: Martsolf syndrome 1 def: "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (DO)" [https://ghr.nlm.nih.gov/condition/rab18-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/16532399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/677168 "DO"] synonym: "MARTS1" EXACT [] xref: MIM:212720 is_a: DOID:9006949 ! Martsolf Syndrome [Term] id: DOID:0111587 name: Gordon Holmes syndrome alt_id: MIM:212840 def: "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. (DO)" [https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome "DO", PMID:23656588 "DO", PMID:25841028 "DO"] synonym: "CAHH" EXACT [] synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" EXACT [] synonym: "cerebellar ataxia-hypogonadism syndrome" EXACT [] synonym: "deficiency of luteinizing hormone-releasing hormone with ataxia" EXACT [] synonym: "GDHS" EXACT [] synonym: "LHRH deficiency and ataxia" EXACT [] synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [] synonym: "RNF216-RELATED CONDITION" EXACT [] xref: MESH:C565870 xref: NCI:C205640 xref: ORDO:1173 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111588 name: Greenberg dysplasia def: "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. (DO)" [https://ghr.nlm.nih.gov/condition/greenberg-dysplasia "DO", PMID:18382993 "DO"] synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" EXACT [] synonym: "GRBGD" EXACT [] synonym: "Greenberg Skeletal Dysplasia" EXACT [] synonym: "HEM Dysplasia" EXACT [] synonym: "HEM skeletal dysplasia" EXACT [] synonym: "hydropic chondrodystrophy and prenatally lethal type" EXACT [] synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" EXACT [] synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [] synonym: "moth-eaten skeletal dysplasia" EXACT [] synonym: "skeletal dysplasia, Greenberg type" EXACT [] xref: GARD:8754 xref: MESH:C535858 xref: MIM:215140 xref: MONDO:0008974 xref: ORDO:1426 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:182 ! calcinosis is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:0111589 name: COACH syndrome def: "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). (DO)" [PMID:19574260 "DO"] synonym: "cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" EXACT [] synonym: "cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT [] synonym: "Gentile syndrome" EXACT [] synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [] synonym: "Joubert syndrome with hepatic defect" EXACT [] synonym: "Joubert syndrome with ocular defect" NARROW [] synonym: "JS-H" EXACT [] xref: GARD:1410 xref: MESH:C536430 xref: ORDO:1454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12270 ! coloboma is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:409 ! liver disease is_a: DOID:9004866 ! Ataxia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111590 name: Cohen syndrome alt_id: MIM:216550 alt_id: OMIA:001428 def: "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. (DO)" [https://ghr.nlm.nih.gov/condition/cohen-syndrome "DO", PMID:12730828 "DO", PMID:24334764 "DO"] synonym: "CHS1" EXACT [] synonym: "COH" EXACT [] synonym: "COH1" EXACT [] synonym: "hypotonia, obesity, and prominent incisors" EXACT [] synonym: "Norio syndrome" EXACT [] synonym: "obesity-hypotonia syndrome" EXACT [] synonym: "Pepper syndrome" EXACT [] synonym: "prominent incisors-obesity-hypotonia syndrome" EXACT [] synonym: "trapped neutrophil syndrome" EXACT [] synonym: "VPS13B-RELATED CONDITION" EXACT [] xref: GARD:6126 xref: MESH:C536438 xref: ORDO:193 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9970 ! obesity [Term] id: DOID:0111591 name: congenital heart defects, hamartomas of tongue, and polysyndactyly alt_id: MESH:C535849 alt_id: MESH:C537137 def: "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. (DO)" [PMID:1516223 "DO", PMID:25427950 "DO"] synonym: "CHDTHP" EXACT [] synonym: "heart defect, tongue hamartoma and polysyndactyly" EXACT [] synonym: "heart defect-tongue hamartoma-polysyndactyly syndrome" EXACT [] synonym: "Orstavik Lindemann Solberg syndrome" EXACT [] synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [] synonym: "WDPCP-RELATED CONDITION" BROAD [] xref: GARD:4166 xref: MIM:217085 xref: ORDO:1338 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11193 ! syndactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:3462 ! hamartoma is_a: DOID:9005873 ! Tongue Neoplasms [Term] id: DOID:0111592 name: plasminogen deficiency type I def: "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency "DO", PMID:12850227 "DO", PMID:16849641 "DO", PMID:9242524 "DO"] synonym: "DYSPLASMINOGENEMIA" RELATED [] synonym: "LIGNEOUS CONJUNCTIVITIS" RELATED [] synonym: "ligneous membranitis" RELATED [] synonym: "plasminogen deficiency, type 1" EXACT [] synonym: "plasminogen deficiency, type II" RELATED [] synonym: "PLG-RELATED CONDITION" BROAD [] xref: GARD:4380 xref: ICD10CM:E88.02 xref: MESH:C566897 xref: MIM:217090 xref: OMIA:002020 xref: ORDO:722 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:6195 ! conjunctivitis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111593 name: distal arthrogryposis type 10 def: "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. (DO)" [PMID:17103435 "DO"] synonym: "DA10" EXACT [] synonym: "plantar flexion contracture" EXACT [] synonym: "short Achilles tendon" EXACT [] synonym: "short tendo calcaneus" EXACT [] xref: MESH:C566069 xref: MIM:187370 xref: MONDO:0016675 xref: ORDO:251515 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111594 name: distal arthrogryposis type 5D def: "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. (DO)" [PMID:23261301 "DO"] synonym: "DA5D" EXACT [] synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [] synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [] synonym: "ECEL1-related condition" EXACT [] xref: MIM:615065 xref: MONDO:0014028 xref: ORDO:329457 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111595 name: congenital contractural arachnodactyly def: "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. (DO)" [PMID:4552107 "DO", PMID:9106527 "DO", PMID:9714438 "DO"] synonym: "Beals-Hecht syndrome" EXACT [] synonym: "Beals syndrome" EXACT [] synonym: "CCA" EXACT [] synonym: "contractural arachnodactyly, Beals type" EXACT [] synonym: "DA9" EXACT [] synonym: "distal arthrogryposis type 9" EXACT [] synonym: "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" EXACT [] synonym: "FBN2-related condition" BROAD [] synonym: "multiple contractures with arachnodactyly" EXACT [] xref: MESH:C536211 xref: MIM:121050 xref: MONDO:0007363 xref: NCI:C129865 xref: ORDO:115 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9006836 ! Contracture [Term] id: DOID:0111596 name: distal arthrogryposis type 1 alt_id: DOID:9001339 alt_id: MESH:C565097 alt_id: MIM:126050 def: "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. (DO)" [https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 "DO", PMID:19571066 "DO", PMID:7039311 "DO", PMID:8923936 "DO"] synonym: "AMCD1" EXACT [] synonym: "DA1" EXACT [] synonym: "digitotalar dysmorphism" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type 1" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type I" EXACT [] synonym: "hereditary ulnar drift" EXACT [] xref: GARD:787 xref: MESH:C535378 xref: ORDO:1146 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111597 name: distal arthrogryposis type 1A def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. (DO)" [PMID:12592607 "DO"] synonym: "DA1A" EXACT [] xref: MIM:108120 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0111598 name: distal arthrogryposis type 1B def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. (DO)" [PMID:20045868 "DO"] synonym: "DA1B" EXACT [] xref: MIM:614335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0111599 name: distal arthrogryposis type 2B def: "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. (DO)" [PMID:19571066 "DO", PMID:9012416 "DO"] synonym: "arthrogryposis multiplex congenita, type 2B" EXACT [] synonym: "ARTHYRGRYPOSIS, DISTAL, TYPE 2B" RELATED [] synonym: "DA2B" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type 2B" EXACT [] synonym: "distal arthrogryposis multiplex congenita type II, with craniofacial abnormalities" EXACT [] synonym: "Freeman-Sheldon syndrome variant" EXACT [] synonym: "FSSV" EXACT [] synonym: "Sheldon-Hall syndrome" EXACT [] synonym: "SHS" EXACT [] xref: MESH:C538400 is_a: DOID:9006523 ! Distal Arthrogryposis Type 2 [Term] id: DOID:0111600 name: distal arthrogryposis type 2B1 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. (DO)" [PMID:12592607 "DO"] synonym: "DA2B1" EXACT [] synonym: "TNNI2-related condition" EXACT [] xref: MIM:601680 xref: MONDO:0020820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111601 name: distal arthrogryposis type 2B2 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. (DO)" [PMID:12865991 "DO"] synonym: "DA2B2" EXACT [] synonym: "TNNT3-RELATED CONDITION" EXACT [] xref: MIM:618435 xref: MONDO:0032750 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111602 name: distal arthrogryposis type 2B3 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)" [PMID:16642020 "DO"] synonym: "DA2B3" EXACT [] synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT [] xref: MIM:618436 xref: MONDO:0032751 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111603 name: distal arthrogryposis type 7 alt_id: MIM:158300 def: "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. (DO)" [PMID:15282353 "DO"] synonym: "DA7" EXACT [] synonym: "Dutch-Kentucky syndrome" EXACT [] synonym: "Hecht-Beals syndrome" EXACT [] synonym: "Hecht Syndrome" EXACT [] synonym: "inability to completely open mouth and short finger-flexor tendons" EXACT [] synonym: "MYH8-RELATED CONDITION" BROAD [] synonym: "trismus-pseudocamptodactyly" EXACT [] synonym: "trismus-pseudocamptodactyly syndrome" EXACT [] xref: GARD:2621 xref: MESH:C535857 xref: ORDO:3377 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006588 ! Trismus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111604 name: Freeman-Sheldon syndrome def: "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (DO)" [https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome "DO", PMID:19571066 "DO", PMID:21032118 "DO"] synonym: "craniocarpotarsal dysplasia" EXACT [] synonym: "craniocarpotarsal dystrophy" EXACT [] synonym: "FSS" EXACT [] synonym: "whistling face syndrome" EXACT [] synonym: "whistling face-windmill vane hand syndrome" EXACT [] xref: MESH:C535483 xref: MONDO:0008675 xref: NCI:C98931 xref: ORDO:2053 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome [Term] id: DOID:0111605 name: distal arthrogryposis type 2A def: "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)" [PMID:16642020 "DO", PMID:19571066 "DO"] synonym: "DA2A" EXACT [] synonym: "distal arthrogryposis type 2A (Freeman-Sheldon)" EXACT [] xref: MIM:193700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111604 ! Freeman-Sheldon syndrome [Term] id: DOID:0111606 name: autosomal recessive Whistling face syndrome def: "A Freeman-Sheldon syndrome that has autosomal recessive inheritance. (DO)" [PMID:20964128 "DO"] xref: GARD:100024 xref: MIM:277720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111604 ! Freeman-Sheldon syndrome [Term] id: DOID:0111607 name: distal arthrogryposis type 3 def: "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)" [PMID:19571066 "DO", PMID:24726473 "DO"] synonym: "camptodactyly, cleft palate, and clubfoot" EXACT [] synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [] synonym: "DA3" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type 2a" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type IIa" EXACT [] synonym: "Gordon syndrome" EXACT [] xref: GARD:2553 xref: MESH:C537288 xref: MIM:114300 xref: MONDO:0007252 xref: ORDO:376 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11836 ! clubfoot is_a: DOID:674 ! cleft palate is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111608 name: distal arthrogryposis type 5 alt_id: MIM:108145 def: "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)" [PMID:19571066 "DO", PMID:23487782 "DO"] synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" EXACT [] synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" EXACT [] synonym: "DA5" EXACT [] synonym: "DAIIB" EXACT [] synonym: "distal arthrogryposis type IIb" EXACT [] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [] synonym: "oculomelic amyoplasia" EXACT [] xref: GARD:4047 xref: MESH:C537737 xref: MONDO:0007158 xref: ORDO:1154 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:5679 ! retinal disease [Term] id: DOID:0111609 name: distal arthrogryposis type 6 alt_id: MIM:108200 def: "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. (DO)" [PMID:19571066 "DO", PMID:5539065 "DO"] synonym: "arthrogryposis and sensorineural deafness" EXACT [] synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" EXACT [] synonym: "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" EXACT [] synonym: "DA6" EXACT [] synonym: "familial hand abnormality and sensori-neural deafness" EXACT [] xref: GARD:784 xref: MESH:C535386 xref: ORDO:1144 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111610 name: distal arthrogryposis type 4 alt_id: MIM:609128 def: "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. (DO)" [PMID:19571066 "DO", PMID:7039311 "DO"] synonym: "arthrogryposis-severe scoliosis syndrome" EXACT [] synonym: "arthrogryposis with severe scoliosis" EXACT [] synonym: "DA4" EXACT [] synonym: "DAIID" EXACT [] synonym: "distal arthrogryposis type IID" EXACT [] xref: MESH:C563791 xref: ORDO:65720 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111611 name: autosomal recessive spinocerebellar ataxia 4 def: "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. (DO)" [PMID:29604224 "DO"] synonym: "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" EXACT [] synonym: "SCA24" EXACT [] synonym: "SCAR4" EXACT [] synonym: "SCASI" EXACT [] synonym: "spinocerebellar ataxia 24" EXACT [] synonym: "spinocerebellar ataxia with saccadic intrusions" EXACT [] synonym: "VPS13D-related condition" BROAD [] xref: GARD:4952 xref: MESH:C537310 xref: MIM:607317 xref: MONDO:0011811 xref: ORDO:95434 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111613 name: autosomal recessive spinocerebellar ataxia 23 def: "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. (DO)" [PMID:24658003 "DO"] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" EXACT [] synonym: "SCAR23" EXACT [] synonym: "TDP2-related condition" BROAD [] xref: MIM:616949 xref: MONDO:0014846 xref: ORDO:404493 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111614 name: autosomal recessive spinocerebellar ataxia 22 alt_id: MIM:616948 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. (DO)" [PMID:26157035 "DO"] synonym: "SCAR22" EXACT [] synonym: "VWA3B-RELATED CONDITION" EXACT [] xref: MESH:C542540 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111615 name: autosomal recessive spinocerebellar ataxia 24 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. (DO)" [PMID:26872069 "DO"] synonym: "SCAR24" EXACT [] synonym: "UBA5-RELATED CONDITION" BROAD [] xref: MIM:617133 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111616 name: autosomal recessive spinocerebellar ataxia 27 def: "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. (DO)" [PMID:30084953 "DO"] synonym: "GDAP2-related condition" BROAD [] synonym: "SCAR27" EXACT [] xref: EFO:0010248 xref: MIM:618369 xref: MONDO:0032706 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111617 name: autosomal recessive spinocerebellar ataxia 6 alt_id: MIM:608029 def: "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. (DO)" [PMID:12811539 "DO", PMID:4003033 "DO"] synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [] synonym: "infantile nonprogressive cerebellar ataxia, autosomal recessive" EXACT [] synonym: "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" EXACT [] synonym: "Norwegian infantile onset ataxia" EXACT [] synonym: "SCAR6" EXACT [] xref: GARD:4954 xref: MESH:C537312 xref: ORDO:284332 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111618 name: autosomal recessive spinocerebellar ataxia 8 alt_id: MESH:C579934 alt_id: MIM:610743 def: "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. (DO)" [PMID:17159980 "DO", PMID:27086870 "DO"] synonym: "Arca1" EXACT [] synonym: "autosomal recessive ataxia, Beauce type" EXACT [] synonym: "Autosomal Recessive Cerebellar Ataxia Type 1" EXACT [] synonym: "recessive ataxia of Beauce" EXACT [] synonym: "SCAR8" EXACT [] synonym: "SYNE1-related autosomal recessive cerebellar ataxia" EXACT [] xref: GARD:12234 xref: MESH:C565188 xref: ORDO:88644 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111619 name: combined D-2- and L-2-hydroxyglutaric aciduria def: "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. (DO)" [https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO", PMID:10963100 "DO", PMID:23561848 "DO"] synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [] synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [] synonym: "combined D,L-2-hydroxyglutaric aciduria" EXACT [] synonym: "D2L2AD" EXACT [] synonym: "D,L-2-HGA" EXACT [] synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [] synonym: "D,L-2-hydroxyglutaric aciduria" EXACT [] synonym: "SLC25A1-RELATED CONDITION" BROAD [] xref: MIM:615182 xref: ORDO:356978 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111620 name: corneal dystrophy-perceptive deafness syndrome alt_id: MIM:217400 def: "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. (DO)" [PMID:17220209 "DO", PMID:5312820 "DO"] synonym: "CDPD" EXACT [] synonym: "CDPD1" EXACT [] synonym: "congenital corneal dystrophy, progressive sensorineural deafness" EXACT [] synonym: "Corneal Dystrophy and Perceptive Deafness" EXACT [] synonym: "corneal dystrophy and sensorineural deafness" EXACT [] synonym: "corneal dystrophy with progressive deafness" EXACT [] synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [] synonym: "Harboyan syndrome" EXACT [] xref: GARD:1529 xref: MESH:C535473 xref: ORDO:1490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2018-01-17T17:46:52Z [Term] id: DOID:0111621 name: Temtamy syndrome alt_id: MIM:218340 def: "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. (DO)" [PMID:23453666 "DO"] synonym: "C12ORF57-RELATED CONDITION" EXACT [] synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [] synonym: "Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" EXACT [] synonym: "Dysmorphism, corpus callosum agenesis and colobomas" EXACT [] synonym: "mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum" EXACT [] synonym: "Temtamy-Shalash syndrome" EXACT [] synonym: "TEMTYS" EXACT [] xref: GARD:5688 xref: MESH:C536959 xref: NCI:C148371 xref: ORDO:1777 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2019-07-09T08:33:00Z [Term] id: DOID:0111622 name: ACTH-independent macronodular adrenal hyperplasia def: "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. (DO)" [https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia "DO", PMID:16215323 "DO"] synonym: "Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [] synonym: "massive macronodular adrenocortical disease" EXACT [] synonym: "MMAD" EXACT [] xref: EFO:0009041 xref: GARD:10824 xref: MIM:PS219080 xref: ORDO:189427 is_a: DOID:446 ! primary hyperaldosteronism created_by: rgd creation_date: 2018-02-07T14:46:31Z [Term] id: DOID:0111623 name: ACTH-independent macronodular adrenal hyperplasia 1 def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)" [PMID:12727968 "DO"] synonym: "ACTH-independent adrenal Cushing syndrome, somatic" EXACT [] synonym: "ACTH-independent Cushing syndrome" EXACT [] synonym: "ACTH-independent macronodular adrenocortical hyperplasia" EXACT [] synonym: "adrenal Cushing syndrome, due to AIMAH" EXACT [] synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" EXACT [] synonym: "AIMAH" EXACT [] synonym: "AIMAH1" EXACT [] synonym: "corticotropin-independent macronodular adrenal hyperplasia" EXACT [] synonym: "primary macronodular adrenal hyperplasia" EXACT [] xref: MESH:C565662 xref: MIM:219080 xref: MONDO:0020735 xref: OMIA:001937 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia is_a: DOID:9005158 ! Cushing Syndrome [Term] id: DOID:0111624 name: ACTH-independent macronodular adrenal hyperplasia 2 def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. (DO)" [PMID:24283224 "DO"] synonym: "AIMAH2" EXACT [] synonym: "ARMC5-related condition" BROAD [] synonym: "macronodular adrenal hyperplasia 2" EXACT [] synonym: "primary macronodular adrenal hyperplasia" EXACT [] xref: EFO:0009148 xref: MIM:615954 xref: MONDO:0014416 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia is_a: DOID:9005158 ! Cushing Syndrome [Term] id: DOID:0111625 name: ventriculomegaly - cystic kidney disease def: "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. (DO)" [PMID:2478019 "DO", PMID:25557780 "DO"] synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [] synonym: "CRB2-RELATED CONDITION" BROAD [] synonym: "cystic kidney disease with ventriculomegaly" EXACT [] synonym: "VMCKD" EXACT [] xref: MESH:C565657 xref: MIM:219730 xref: MONDO:0009063 xref: ORDO:443988 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9009131 ! Ventriculomegaly [Term] id: DOID:0111626 name: D-glyceric aciduria alt_id: MIM:220120 def: "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. (DO)" [PMID:20949620 "DO"] synonym: "deficiency of glycerate kinase" EXACT [] synonym: "D-glycerate kinase deficiency" EXACT [] synonym: "D-Glyceric Acidemia" EXACT [] synonym: "D-Glycericacidemia" EXACT [] synonym: "glycerate kinase deficiency" EXACT [] synonym: "GLYCTK-RELATED CONDITION" EXACT [] xref: GARD:234 xref: ICD10CM:E72.59 xref: MESH:C535767 xref: NCI:C128804 xref: ORDO:128804 xref: ORDO:941 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111627 name: DOORS syndrome def: "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)" [https://ghr.nlm.nih.gov/condition/doors-syndrome "DO", PMID:1132883 "DO", PMID:24291220 "DO"] synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [] synonym: "brachydactyly due to absence of distal phalanges" EXACT [] synonym: "deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome" EXACT [] synonym: "deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" EXACT [] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [] synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome" EXACT [1] synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [] synonym: "digitorenocerebral syndrome" EXACT [] synonym: "DOORS" EXACT [] synonym: "DOOR syndrome" EXACT [] synonym: "DRC syndrome" EXACT [] synonym: "Eronen syndrome" EXACT [] xref: GARD:1685 xref: MESH:C563052 xref: MIM:220500 xref: MONDO:0009079 xref: ORDO:79500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: gthayman creation_date: 2019-04-10T05:17:17Z [Term] id: DOID:0111628 name: high myopia-sensorineural deafness syndrome def: "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. (DO)" [https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome "DO", PMID:23543054 "DO"] synonym: "deafness and myopia" EXACT [] synonym: "deafness and myopia syndrome" EXACT [] synonym: "DFNMYP" EXACT [] synonym: "SLITRK6-related condition" BROAD [] xref: GARD:12844 xref: MIM:221200 xref: MONDO:0009082 xref: ORDO:363396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9002189 ! High Myopia is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2019-07-11T13:26:12Z [Term] id: DOID:0111629 name: dihydropyrimidinase deficiency alt_id: MIM:222748 def: "A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. (DO)" [https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency "DO", PMID:29054612 "DO"] synonym: "DIHYDROPYRIMIDINURIA" EXACT [] synonym: "DPH deficiency" EXACT [] synonym: "DPYSD" EXACT [] synonym: "DPYS deficiency" EXACT [] synonym: "DPYS-RELATED CONDITION" EXACT [] xref: GARD:12347 xref: MESH:C562815 xref: ORDO:38874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050832 ! pyrimidine metabolic disorder [Term] id: DOID:0111630 name: familial erythrocytosis 8 def: "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)" [PMID:2542247 "DO"] synonym: "Bisphosphoglycerate Mutase Deficiency" EXACT [] synonym: "BISPHOSPHOGLYCEROMUTASE DEFICIENCY" EXACT [] synonym: "BPGM DEFICIENCY" EXACT [] synonym: "diphosphoglycerate mutase deficiency of erythrocyte" EXACT [] synonym: "DPGM deficiency" EXACT [] synonym: "ECYT8" EXACT [] synonym: "hemolytic anemia due to diphosphoglycerate mutase deficiency" EXACT [] xref: MIM:222800 xref: ORDO:714 is_a: DOID:10780 ! primary polycythemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111631 name: familial erythrocytosis 7 def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. (DO)" [PMID:10676771 "DO", PMID:5913291 "DO"] synonym: "alpha-globin type erythrocytosis" EXACT [] synonym: "alpha-globin type polycythemia" EXACT [] synonym: "ECYT7" EXACT [] synonym: "ERYTHROCYTOSIS 7" EXACT [] xref: MIM:617981 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0111632 name: familial erythrocytosis 6 def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. (DO)" [PMID:10676771 "DO", PMID:17795074 "DO"] synonym: "beta-globin type erythrocytosis" EXACT [] synonym: "beta-globin type polycythemia" EXACT [] synonym: "ECYT6" EXACT [] synonym: "erythrocytosis 6" EXACT [] xref: MIM:617980 is_a: DOID:10780 ! primary polycythemia created_by: slaulede creation_date: 2018-06-18T00:00:00Z [Term] id: DOID:0111633 name: congenital sucrase-isomaltase deficiency alt_id: MIM:222900 def: "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency "DO", PMID:3925457 "DO"] synonym: "congenital sucrase-isomaltose malabsorption" EXACT [] synonym: "congenital sucrose intolerance" EXACT [] synonym: "congenital sucrose-isomaltase malabsorption" EXACT [] synonym: "Congenital Sucrose-Isomaltose Malabsorption" EXACT [] synonym: "CSID" EXACT [] synonym: "disaccharide intolerance" EXACT [] synonym: "Disaccharide intolerance, 1" EXACT [] synonym: "disaccharide intolerance I" EXACT [] synonym: "SI deficiency" EXACT [] synonym: "SI-RELATED CONDITION" EXACT [] synonym: "sucrase-isomaltase deficiency" EXACT [] xref: GARD:7710 xref: ICD10CM:E74.31 xref: MESH:C538139 xref: NCI:C128190 xref: ORDO:35122 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111634 name: autosomal recessive nonsyndromic deafness 99 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. (DO)" [PMID:12673573 "DO"] synonym: "autosomal recessive deafness 99" EXACT [] synonym: "DFNB99" EXACT [] synonym: "TMEM132E-related condition" BROAD [] xref: MIM:618481 xref: MONDO:0032776 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111635 name: autosomal recessive nonsyndromic deafness 57 def: "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. (DO)" [PMID:29048736 "DO"] synonym: "autosomal recessive deafness-57" EXACT [] synonym: "DFNB57" EXACT [] xref: MIM:618003 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111636 name: autosomal recessive nonsyndromic deafness 113 def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. (DO)" [PMID:29703829 "DO"] synonym: "autosomal recessive deafness 113" EXACT [] synonym: "CEACAM16-related condition" BROAD [] synonym: "DFNB113" EXACT [] xref: MIM:618410 xref: MONDO:0032732 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111637 name: autosomal recessive nonsyndromic deafness 112 def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. (DO)" [PMID:24312468 "DO"] synonym: "autosomal recessive deafness 112" EXACT [] synonym: "BDP1-RELATED CONDITION" EXACT [] synonym: "DFNB112" EXACT [] xref: MIM:618257 xref: MONDO:0032639 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111638 name: autosomal recessive nonsyndromic deafness 100 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. (DO)" [PMID:29590114 "DO"] synonym: "autosomal recessive deafness 100" EXACT [] synonym: "DFNB100" EXACT [] synonym: "PPIP5K2-RELATED CONDITION" EXACT [] xref: MIM:618422 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111639 name: autosomal recessive nonsyndromic deafness 109 def: "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. (DO)" [PMID:29107558 "DO"] synonym: "autosomal recessive deafness-109" EXACT [] synonym: "DFNB109" EXACT [] synonym: "ESRP1-related condition" EXACT [] xref: MIM:618013 xref: MONDO:0033202 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111640 name: autosomal recessive nonsyndromic deafness 111 def: "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. (DO)" [PMID:29961571 "DO", PMID:29982980 "DO"] synonym: "autosomal recessive deafness 111" EXACT [] synonym: "DFNB111" EXACT [] synonym: "MPZL2-related condition" EXACT [] xref: MIM:618145 xref: MONDO:0029142 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111641 name: autosomal recessive nonsyndromic deafness 94 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)" [PMID:25807530 "DO"] synonym: "autosomal recessive deafness 94" EXACT [] synonym: "DFNB94" EXACT [] synonym: "NARS2-related condition" BROAD [] xref: MIM:618434 xref: MONDO:0032749 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111642 name: autosomal recessive nonsyndromic deafness 114 def: "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. (DO)" [PMID:30610177 "DO"] synonym: "autosomal recessive deafness 114" EXACT [] synonym: "DFNB114" EXACT [] synonym: "hearing loss, autosomal recessive 114" EXACT [] xref: MIM:618456 xref: MONDO:0032761 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: slaulede creation_date: 2018-04-12T13:58:33Z [Term] id: DOID:0111643 name: autosomal recessive nonsyndromic deafness 115 def: "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. (DO)" [PMID:30973865 "DO"] synonym: "autosomal recessive deafness 115" EXACT [] synonym: "DFNB115" EXACT [] synonym: "hearing loss, autosomal recessive 115" EXACT [] synonym: "SPNS2-related condition" EXACT [] xref: MIM:618457 xref: MONDO:0032762 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111644 name: autosomal recessive nonsyndromic deafness 110 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. (DO)" [PMID:29449721 "DO"] synonym: "autosomal recessive deafness-110" EXACT [] synonym: "COCH-RELATED CONDITION" BROAD [] synonym: "DFNB110" EXACT [] xref: MIM:618094 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: slaulede creation_date: 2019-07-02T08:14:05Z [Term] id: DOID:0111645 name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome def: "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)" [PMID:31257402 "DO"] synonym: "EPRPDC" EXACT [] synonym: "RE-PED-WC" EXACT [] synonym: "Rolandic epilepsy, with paroxysmal exercise-induced dystonia and writer's cramp" EXACT [] synonym: "Rolandic-type focal motor epilepsy and exercise-induced dystonia" EXACT [] xref: MESH:C535499 xref: MIM:608105 xref: MONDO:0011970 xref: ORDO:163727 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes is_a: DOID:543 ! dystonia [Term] id: DOID:0111646 name: congenital lactase deficiency alt_id: MIM:223000 def: "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. (DO)" [https://ghr.nlm.nih.gov/condition/lactose-intolerance "DO", PMID:16400612 "DO", PMID:5419986 "DO"] synonym: "CLD" EXACT [] synonym: "congenital alactasia" EXACT [] synonym: "congenital alactasia syndrome" EXACT [] synonym: "congenital lactose intolerance" EXACT [] synonym: "congenital lactose malabsorption" EXACT [] synonym: "disaccharide Intolerance II" EXACT [] synonym: "LCT-RELATED CONDITION" EXACT [] xref: ICD10CM:E73.0 xref: MESH:C562600 xref: ORDO:53690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111647 name: Schopf-Schulz-Passarge syndrome def: "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. (DO)" [PMID:19559398 "DO", PMID:2947556 "DO"] synonym: "eccrine tumors-ectodermal dysplasia" EXACT [] synonym: "eccrine tumors with ectodermal dysplasia" EXACT [] synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" EXACT [] synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "SSPS" EXACT [] xref: MESH:C565607 xref: MIM:224750 xref: MONDO:0009145 xref: ORDO:50944 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2173 ! eyelid benign neoplasm is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0111648 name: ectopia lentis with ectopia of pupil def: "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. (DO)" [PMID:20702823 "DO", PMID:7696232 "DO"] synonym: "ADAMTSL4-related condition" BROAD [] synonym: "ectopia lentis et pupillae" EXACT [] xref: MESH:C563268 xref: MIM:225200 xref: MONDO:0009153 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:238 ! pupil disease is_a: DOID:9004201 ! Ectopia Lentis created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0111649 name: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome def: "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. (DO)" [PMID:15805154 "DO", PMID:6302256 "DO"] synonym: "CDH3-RELATED CONDITION" BROAD [] synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" EXACT [] synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy" EXACT [] synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [] synonym: "EEMS" EXACT [] synonym: "EEM Syndrome" EXACT [] xref: GARD:2078 xref: MESH:C536190 xref: MIM:225280 xref: MONDO:0009155 xref: ORDO:1897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4448 ! macular degeneration is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111650 name: ectodermal dysplasia 13 def: "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. (DO)" [PMID:27049303 "DO"] synonym: "ECTD13" EXACT [] synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT [] synonym: "KREMEN1-RELATED DISORDER" EXACT [] xref: MIM:617392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111651 name: ectodermal dysplasia 15 def: "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. (DO)" [PMID:30425301 "DO"] synonym: "ECTD15" EXACT [] synonym: "Ectodermal Dysplasia 15, Hypohidrotic/Hair Type" EXACT [] xref: MIM:618535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111652 name: ectodermal dysplasia 12 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. (DO)" [PMID:27838789 "DO"] synonym: "ECTD12" EXACT [] synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" EXACT [] synonym: "KDF1-RELATED CONDITION" EXACT [] xref: MIM:617337 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111653 name: ectodermal dysplasia 11A def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)" [PMID:17354266 "DO"] synonym: "ECTD11A" EXACT [] synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [] synonym: "HED" EXACT [] xref: MIM:614940 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111654 name: ectodermal dysplasia 11B def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)" [PMID:11780064 "DO"] synonym: "ECTD11B" EXACT [] synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [] xref: MIM:614941 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111655 name: pure hair and nail ectodermal dysplasia def: "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. (DO)" [PMID:23063621 "DO"] synonym: "Ectodermal Dysplasia, Pure Hair-Nail Type" EXACT [] xref: MESH:C566592 xref: ORDO:69084 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease is_a: DOID:421 ! hair disease [Term] id: DOID:0111656 name: ectodermal dysplasia 9 alt_id: OMIA:002157 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. (DO)" [PMID:23063621 "DO"] synonym: "ECTD9" EXACT [] synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [] synonym: "HOXC13-RELATED DISORDER" EXACT [] xref: MIM:614931 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111657 name: ectodermal dysplasia 5 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. (DO)" [PMID:15675952 "DO"] synonym: "ECTD5" EXACT [] synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [] xref: MIM:614927 xref: MONDO:0013973 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111658 name: ectodermal dysplasia 4 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. (DO)" [PMID:16525032 "DO"] synonym: "ECTD4" EXACT [] synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [] synonym: "KRT85-RELATED CONDITION" EXACT [] xref: MIM:602032 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111659 name: ectodermal dysplasia 6 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. (DO)" [PMID:17107387 "DO"] synonym: "ECTD6" EXACT [] synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [] xref: MIM:614928 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111660 name: ectodermal dysplasia 7 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)" [PMID:24714551 "DO"] synonym: "ECTD7" EXACT [] synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [] xref: MIM:614929 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111661 name: ectodermal dysplasia 8 def: "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. (DO)" [PMID:18184143 "DO", PMID:856958 "DO"] synonym: "ECTD8" EXACT [] synonym: "ectodermal dysplasia 8, hair/tooth/nail type" EXACT [] synonym: "Fried's tooth and nail syndrome" EXACT [] xref: MIM:602401 xref: ORDO:99672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111662 name: ectodermal dysplasia 14 def: "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. (DO)" [PMID:27736875 "DO"] synonym: "ECTD14" EXACT [] synonym: "ECTN14" EXACT [] synonym: "ectodermal dysplasia 14, hair/tooth type with hypohidrosis" NARROW [] synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" EXACT [] synonym: "Ectodermal dysplasia-14 of the hair/tooth type" EXACT [] synonym: "hypohidrotic/hair/tooth/nail type" EXACT [] synonym: "TSPEAR-related disorder of tooth and hair follicle morphogenesis" EXACT [] xref: MIM:618180 xref: MONDO:0032584 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia created_by: slaulede creation_date: 2018-11-09T00:00:00Z [Term] id: DOID:0111663 name: ectodermal dysplasia 10A alt_id: MIM:129490 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)" [PMID:10431241 "DO"] synonym: "anhidrotic ectodermal dysplasia 3" EXACT [] synonym: "autosomal dominant ectodermal dysplasia-10A" EXACT [] synonym: "autosomal dominant ectodermal dysplasia 10A, hypohidrotic/hair/tooth type" EXACT [] synonym: "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA" EXACT [] synonym: "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME" EXACT [] synonym: "ECTD10A" EXACT [] synonym: "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT" EXACT [] synonym: "HED" EXACT [] xref: MESH:D053359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111664 name: ectodermal dysplasia 1 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. (DO)" [PMID:8434608 "DO"] synonym: "anhidrotic ectodermal dysplasia 1" EXACT [] synonym: "anhydrotic ectodermal dysplasia 1" EXACT [] synonym: "Christ Siemens Touraine syndrome" EXACT [] synonym: "CST syndrome" EXACT [] synonym: "CST syndromes" EXACT [] synonym: "ECTD1" EXACT [] synonym: "ED1" EXACT [] synonym: "EDA" EXACT [] synonym: "EDA1" EXACT [] synonym: "HED1" EXACT [] synonym: "hypohidrotic ectodermal dysplasia 1" EXACT [] synonym: "XHED" EXACT [] synonym: "XLHED" EXACT [] synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [] synonym: "X-linked anhydrotic ectodermal dysplasia" EXACT [] synonym: "X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type" EXACT [] synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT [] synonym: "X-linked hypohidrotic ectodermal dysplasia 1" EXACT [] synonym: "X-linked hypohydridic ectodermal dysplasia" EXACT [] xref: MESH:D053358 xref: MIM:305100 xref: MONDO:0010585 xref: OMIA:000543 xref: ORDO:181 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia created_by: rgd creation_date: 2017-03-03T00:00:00Z [Term] id: DOID:0111665 name: ectodermal dysplasia 10B alt_id: MIM:224900 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)" [PMID:10431241 "DO"] synonym: "anhidridic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "anhydridic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "anhydrotic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME" EXACT [] synonym: "ECTD10B" EXACT [] synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive" EXACT [] synonym: "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE" EXACT [] synonym: "EDA" EXACT [] synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" BROAD [] xref: MESH:D053360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111666 name: proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome alt_id: MIM:225790 def: "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. (DO)" [PMID:20206334 "DO"] synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [] synonym: "encephaloclastic proliferative vasculopathy" EXACT [] synonym: "EPV" EXACT [] synonym: "FLVCR2-RELATED CONDITION" EXACT [] synonym: "Fowler syndrome" EXACT [] synonym: "Fowler vasculopathy" EXACT [] synonym: "Hydranencephaly, Fowler Type" EXACT [] synonym: "hydrocephaly-hydranencephaly due to cerebral vasculopathy" EXACT [] synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [] synonym: "PVHH" EXACT [] xref: MESH:C565593 xref: ORDO:221126 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:4626 ! hydranencephaly [Term] id: DOID:0111667 name: enterokinase deficiency alt_id: MIM:226200 def: "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. (DO)" [PMID:11719902 "DO"] synonym: "congenital enterokinase deficiency" EXACT [] synonym: "congenital enteropathy due to enteropeptidase deficiency" EXACT [] synonym: "deficiency of enteropeptidase" EXACT [] synonym: "enteropeptidase deficiency" EXACT [] synonym: "TMPRSS15-RELATED CONDITION" EXACT [] xref: MESH:C562649 xref: ORDO:168601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease is_a: DOID:655 ! inherited metabolic disorder created_by: slaulede creation_date: 2018-07-10T15:38:52Z [Term] id: DOID:0111668 name: Kohlschutter-Tonz syndrome def: "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (DO)" [PMID:22424600 "DO", PMID:22482807 "DO"] synonym: "amelocerebrohypohidrotic syndrome" EXACT [] synonym: "epilepsy and yellow teeth" EXACT [] synonym: "epilepsy-dementia-amelogenesis imperfecta" EXACT [] synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [] synonym: "epilepsy, dementia, and amelogenesis imperfecta" EXACT [] synonym: "Kohlschutter's syndrome" EXACT [] synonym: "Kohlschutter syndrome" EXACT [] synonym: "KTZS" EXACT [] xref: GARD:3128 xref: MESH:C537213 xref: MIM:226750 xref: MONDO:0009185 xref: ORDO:1946 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1307 ! dementia is_a: DOID:1826 ! epilepsy is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0111669 name: hyaline fibromatosis syndrome alt_id: MIM:228600 def: "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. (DO)" [PMID:22383261 "DO"] synonym: "ANTXR2-RELATED CONDITION" EXACT [] synonym: "Fibromatosis Hyalinica Multiplex Juvenilis" EXACT [] synonym: "Fibromatosis Juvenile Hyaline" EXACT [] synonym: "HFS" EXACT [] synonym: "hyaline fibromatosis syndromes" EXACT [] synonym: "infantile systemic hyalinoses" EXACT [] synonym: "Infantile Systemic Hyalinosis" EXACT [] synonym: "inherited systemic hyalinosis" EXACT [] synonym: "juvenile hyaline fibromatoses" EXACT [] synonym: "juvenile hyalinoses" EXACT [] synonym: "Juvenile Hyalinosis" EXACT [] synonym: "Murray Syndrome" EXACT [] synonym: "Puretic Syndrome" EXACT [] synonym: "Puretic Syndromes" EXACT [] synonym: "systemic hyalinoses" EXACT [] synonym: "systemic hyalinosis" EXACT [] synonym: "systemic juvenile hyalinoses" EXACT [] synonym: "systemic juvenile hyalinosis" EXACT [] xref: MESH:D057770 xref: NCI:C98297 xref: ORDO:498474 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111670 name: primary hyperoxaluria type 1 def: "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. (DO)" [PMID:19479957 "DO", PMID:2039493 "DO"] synonym: "AGXT-related condition" BROAD [] synonym: "alanine-glyoxylate aminotransferase deficiency" EXACT [] synonym: "glycolic aciduria" EXACT [] synonym: "Hepatic AGT Deficiency" EXACT [] synonym: "HP1" EXACT [] synonym: "Oxalosis 1" EXACT [] synonym: "oxalosis I" EXACT [] synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" EXACT [] synonym: "PH1" EXACT [] synonym: "primary hyperoxaluria type I" EXACT [] synonym: "serine:pyruvate aminotransferase deficiency" EXACT [] xref: GARD:2835 xref: MESH:C536414 xref: MIM:259900 xref: MONDO:0009823 xref: NCI:C123212 xref: OMIA:001672 xref: ORDO:93598 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111671 name: primary hyperoxaluria type 2 alt_id: MIM:260000 def: "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK2692/ "DO", PMID:10484776 "DO"] synonym: "D-glycerate dehydrogenase deficiency" EXACT [] synonym: "glyceric aciduria" EXACT [] synonym: "glyoxylate reductase-hydroxypyruvate reductase deficiency" EXACT [] synonym: "HP2" EXACT [] synonym: "L-glyceric aciduria" EXACT [] synonym: "oxalosis 2" EXACT [] synonym: "oxalosis II" EXACT [] synonym: "primary hyperoxaluria type II" EXACT [] xref: GARD:2836 xref: MESH:C536415 xref: NCI:C123213 xref: ORDO:93599 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111672 name: primary hyperoxaluria type 3 def: "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK316514/ "DO", PMID:26340091 "DO"] synonym: "HOGA1-RELATED CONDITION" EXACT [] synonym: "HP3" EXACT [] synonym: "PH III" EXACT [] synonym: "primary hyperoxaluria type III" EXACT [] xref: GARD:10738 xref: MIM:613616 xref: MONDO:0013327 xref: NCI:C123214 xref: ORDO:93600 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111673 name: Saul-Wilson syndrome def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. (DO)" [PMID:30290151 "DO"] synonym: "COG4-RELATED CONDITION" BROAD [] synonym: "MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA" EXACT [] synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [] synonym: "SWILS" EXACT [] xref: MIM:618150 xref: ORDO:85172 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:0111674 name: intellectual developmental disorder with short stature and behavioral abnormalities def: "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. (DO)" [PMID:31607425 "DO"] synonym: "IDDSSBA" EXACT [] synonym: "IQSEC1-related condition" BROAD [] xref: EFO:0010652 xref: MIM:618687 xref: MONDO:0032870 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111675 name: neurooculocardiogenitourinary syndrome def: "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. (DO)" [PMID:31327510 "DO"] synonym: "NOCGUS" EXACT [] synonym: "WDR37-related condition" BROAD [] xref: EFO:0010663 xref: MIM:618652 xref: MONDO:0032850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111676 name: high molecular weight kininogen deficiency def: "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. (DO)" [PMID:12576314 "DO", PMID:2989293 "DO"] synonym: "congenital high-molecular-weight kininogen deficiency" EXACT [] synonym: "Fitzgerald trait" EXACT [] synonym: "Flaujeac Factor Deficiency" EXACT [] synonym: "FLAUJEAC TRAIT" NARROW [] synonym: "HMWK Deficiency" EXACT [] synonym: "KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT" NARROW [] synonym: "KNG1-related condition" BROAD [] synonym: "total kininogen deficiency" EXACT [] synonym: "Williams trait" NARROW [] xref: GARD:2684 xref: MESH:C537060 xref: MIM:228960 xref: MONDO:0009234 xref: NCI:C98946 xref: ORDO:483 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111677 name: familial benign fleck retina alt_id: MIM:228980 def: "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. (DO)" [PMID:22137173 "DO"] synonym: "FAMILIAL BENIGN FLECKED RETINA" EXACT [] synonym: "FRFB" EXACT [] xref: MESH:C565564 xref: ORDO:363989 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0111678 name: hereditary folate malabsorption alt_id: MIM:229050 def: "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption "DO", PMID:17129779 "DO"] synonym: "congenital defect of folate absorption" EXACT [] synonym: "congenital folate malabsorption" EXACT [] synonym: "folic acid transport defect" EXACT [] synonym: "SLC46A1-RELATED CONDITION" EXACT [] xref: GARD:12983 xref: MESH:C562799 xref: NCI:C156424 xref: ORDO:90045 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14026 ! folic acid deficiency anemia is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0111679 name: glutamate formiminotransferase deficiency def: "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. (DO)" [https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency "DO", PMID:12815595 "DO"] synonym: "Arakawa syndrome 1" EXACT [] synonym: "FIGLUria" EXACT [] synonym: "FIGLU-Uria" EXACT [] synonym: "formiminoglutamic acidemia" EXACT [] synonym: "formiminoglutamic aciduria" EXACT [] synonym: "formiminoglutamicaciduria (FIGLU-uria)" EXACT [] synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [] synonym: "formiminotransferase deficiency" EXACT [] synonym: "formiminotransferase deficiency syndrome" EXACT [] synonym: "FTCD deficiency" EXACT [] xref: GARD:9279 xref: MESH:C537425 xref: MIM:229100 xref: MONDO:0009240 xref: ORDO:51208 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111680 name: essential fructosuria alt_id: DOID:9001168 alt_id: MIM:229800 def: "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. (DO)" [PMID:7833921 "DO"] synonym: "Essential benign fructosuria" EXACT [] synonym: "fructokinase deficiency" EXACT [] synonym: "Fructosuria" EXACT [] synonym: "Hepatic fructokinase deficiency" EXACT [] synonym: "Ketohexokinase deficiency" EXACT [] xref: ICD10CM:E74.11 xref: MESH:C538068 xref: ORDO:2056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors [Term] id: DOID:0111681 name: congenital nonspherocytic hemolytic anemia 7 def: "An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. (DO)" [PMID:10515893 "DO", PMID:5058793 "DO"] synonym: "CNSHA7" EXACT [] synonym: "gamma-glutamylcysteine synthetase deficiency" EXACT [] synonym: "GCLC-RELATED CONDITION" BROAD [] synonym: "glutamate-cysteine ligase deficiency" EXACT [] synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [] xref: MESH:C565557 xref: MIM:230450 xref: MONDO:0009259 xref: ORDO:33574 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111682 name: diffuse cystic renal dysplasia alt_id: MIM:601331 def: "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. (DO)" [PMID:21922595 "DO", PMID:8725780 "DO"] synonym: "BICC1-RELATED CONDITION" EXACT [] synonym: "CYSRD" EXACT [] synonym: "susceptibility to cystic renal dysplasia" EXACT [] xref: GARD:4658 xref: MESH:C537755 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:0111683 name: neurofibromatosis-Noonan syndrome def: "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. (DO)" [PMID:12707950 "DO", PMID:2411134 "DO"] synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [] synonym: "neurofibromatosis with Noonan phenotype" EXACT [] synonym: "NFNS" EXACT [] xref: GARD:372 xref: MESH:C537393 xref: MIM:601321 xref: MONDO:0011035 xref: ORDO:638 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:3490 ! Noonan syndrome is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:0111684 name: hereditary mixed polyposis syndrome def: "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. (DO)" [PMID:8644741 "DO"] synonym: "HMPS" EXACT [] xref: MIM:PS601228 xref: ORDO:157794 is_a: DOID:0050424 ! familial adenomatous polyposis [Term] id: DOID:0111685 name: hereditary mixed polyposis syndrome 1 alt_id: MIM:601228 def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. (DO)" [PMID:22561515 "DO", PMID:8644741 "DO"] synonym: "chromosome 15q13-q14 duplication syndrome, 40-KB" EXACT [] synonym: "colorectal adenoma and carcinoma 1" NARROW [] synonym: "colorectal cancer, susceptibility to, 4" NARROW [] synonym: "colorectal cancer, susceptibility to, on chromosome 15" NARROW [] synonym: "CRAC1" EXACT [] synonym: "CRCS4" NARROW [] synonym: "HMPS1" EXACT [] xref: MESH:C563365 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0111684 ! hereditary mixed polyposis syndrome [Term] id: DOID:0111686 name: hereditary mixed polyposis syndrome 2 alt_id: MIM:610069 def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. (DO)" [PMID:16525031 "DO"] synonym: "BMPR1A-RELATED DISORDER" BROAD [] synonym: "HMPS2" EXACT [] xref: MESH:C566451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111684 ! hereditary mixed polyposis syndrome [Term] id: DOID:0111687 name: Potocki-Shaffer syndrome alt_id: MIM:601224 def: "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. (DO)" [https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome "DO", PMID:20140962 "DO", PMID:8644736 "DO"] synonym: "11p11.2 deletion" EXACT [] synonym: "chromosome 11p11.2 deletion syndrome" EXACT [] synonym: "defect11 syndrome" EXACT [] synonym: "deletion of chromosome 11p11.2" EXACT [] synonym: "P11PDS" EXACT [] synonym: "proximal 11P deletion syndrome" EXACT [] synonym: "PSS" EXACT [] xref: GARD:9762 xref: MESH:C538356 xref: NCI:C75456 xref: ORDO:52022 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:206 ! hereditary multiple exostoses [Term] id: DOID:0111688 name: Ayme-Gripp syndrome alt_id: MIM:601088 def: "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. (DO)" [PMID:25865493 "DO", PMID:8834052 "DO"] synonym: "AYGRP" EXACT [] synonym: "congenital cataracts with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation" EXACT [] synonym: "MAF-RELATED CONDITION" BROAD [] xref: EFO:0009020 xref: MESH:C563390 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0111689 name: familial adult myoclonic epilepsy def: "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. (DO)" [PMID:20548044 "DO"] synonym: "BAFME" EXACT [] synonym: "benign adult familial myoclonic epilepsy" EXACT [] synonym: "benign adult familial myoclonus epilepsy" EXACT [] synonym: "FAME" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [] synonym: "FCMTE" EXACT [] synonym: "FMCTE" EXACT [] xref: MIM:PS601068 xref: ORDO:86814 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0111690 name: familial adult myoclonic epilepsy 1 alt_id: MIM:601068 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. (DO)" [PMID:29507423 "DO", PMID:29939203 "DO"] synonym: "BAFME1" EXACT [] synonym: "benign adult familial myoclonic epilepsy 1" EXACT [] synonym: "benign adult familial myoclonic epilepsy, type 1" EXACT [] synonym: "FAME1" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 1" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 1" EXACT [] synonym: "familial cortical tremor" EXACT [] synonym: "FCMTE1" EXACT [] xref: MESH:C563399 xref: NCI:C206111 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111691 name: familial adult myoclonic epilepsy 5 def: "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. (DO)" [PMID:23518707 "DO"] synonym: "early-onset epilepsy 5 with or without developmental delay" EXACT [] synonym: "FAME5" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 5" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 5" EXACT [] synonym: "FCMTE5" EXACT [] xref: MIM:615400 xref: MONDO:0014167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111692 name: familial adult myoclonic epilepsy 2 alt_id: MIM:607876 def: "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. (DO)" [PMID:22491192 "DO", PMID:24114805 "DO", PMID:31664034 "DO"] synonym: "ADCME" EXACT [] synonym: "BAFME2" EXACT [] synonym: "benign adult familial myoclonic epilepsy 2" EXACT [] synonym: "benign adult familial myoclonic epilepsy type 2" EXACT [] synonym: "cortical myoclonus and epilepsy, autosomal dominant" EXACT [] synonym: "FAME2" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 2" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 2" EXACT [] synonym: "FCMTE2" EXACT [] xref: MESH:C564313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy created_by: rgd creation_date: 2017-10-31T13:41:25Z [Term] id: DOID:0111693 name: familial adult myoclonic epilepsy 4 def: "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. (DO)" [PMID:31539032 "DO"] synonym: "FAME4" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 4" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 4" EXACT [] synonym: "FCMTE4" EXACT [] synonym: "YEATS2-RELATED CONDITION" EXACT [] xref: MIM:615127 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy created_by: gthayman creation_date: 2019-04-30T14:46:13Z [Term] id: DOID:0111694 name: familial adult myoclonic epilepsy 7 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. (DO)" [PMID:29507423 "DO"] synonym: "BAFME7" EXACT [] synonym: "BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7" EXACT [] synonym: "FAME7" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 7" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 7" EXACT [] synonym: "FCMTE7" EXACT [] xref: MIM:618075 xref: MONDO:0054847 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111695 name: familial adult myoclonic epilepsy 3 alt_id: MIM:613608 def: "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. (DO)" [PMID:31664039 "DO"] synonym: "FAME3" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 3" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 3" EXACT [] synonym: "FCMTE3" EXACT [] xref: MESH:C567098 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111696 name: familial adult myoclonic epilepsy 6 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. (DO)" [PMID:29507423 "DO"] synonym: "BAFME6" EXACT [] synonym: "benign adult familial myoclonic epilepsy 6" EXACT [] synonym: "FAME6" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 6" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 6" EXACT [] synonym: "FCMTE6" EXACT [] xref: MIM:618074 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111697 name: cleft palate, cardiac defects, and intellectual disability alt_id: MIM:600987 def: "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. (DO)" [PMID:24678003 "DO", PMID:8825606 "DO"] synonym: "Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies" EXACT [] synonym: "cleft palate, cardiac defects, and impaired intellectual development" EXACT [] synonym: "cleft palate, cardiac defects, and mental retardation" EXACT [] synonym: "CPCMR" EXACT [] synonym: "MEIS2-related condition" BROAD [] synonym: "MEIS2-related disorder" BROAD [] xref: MESH:C563414 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:0111698 name: proprotein convertase 1/3 deficiency def: "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. (DO)" [PMID:14617756 "DO", PMID:7477119 "DO", PMID:9207799 "DO"] synonym: "obesity and endocrinopathy due to impaired processing of prohormones" EXACT [] synonym: "obesity due to prohormone convertase I deficiency" EXACT [] synonym: "obesity with impaired prohormone processing" EXACT [] synonym: "PCI deficiency" EXACT [] synonym: "PCSK1-RELATED CONDITION" EXACT [] xref: MESH:C563423 xref: MIM:600955 xref: MONDO:0010961 xref: ORDO:71528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:9970 ! obesity created_by: mtutaj creation_date: 2019-03-21T11:28:01Z [Term] id: DOID:0111699 name: Van den Ende-Gupta syndrome alt_id: MIM:600920 alt_id: OMIA:002016 def: "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. (DO)" [PMID:23808541 "DO"] synonym: "blepharophimosis, arachnodactyly, and congenital contractures" EXACT [] synonym: "Marden Walker Like Syndrome" EXACT [] synonym: "Marden-Walker-like syndrome without psychmotor retardation" EXACT [] synonym: "Marden Walker like syndrome without psychomotor retardation" EXACT [] synonym: "SCARF2-RELATED CONDITION" EXACT [] synonym: "VDEGS" EXACT [] xref: GARD:3382 xref: MESH:C535909 xref: ORDO:2460 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10348 ! blepharophimosis is_a: DOID:225 ! syndrome is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111700 name: ankyrin-B-related cardiac arrhythmia def: "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)" [https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome "DO", PMID:15178757 "DO", PMID:17242276 "DO"] synonym: "ANK2-associated complex neurodevelopmental disorder" BROAD [] synonym: "ANK2-associated neurodevelopmental disorder" BROAD [] synonym: "ANK2-related autism" RELATED [] synonym: "ANK2-related condition" BROAD [] synonym: "ankyrin-B syndrome" EXACT [] synonym: "LONG QT SYNDROME 4" RELATED [] synonym: "LQT4" RELATED [] xref: GARD:13294 xref: MESH:C566996 xref: MIM:600919 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0111701 name: long QT syndrome 4 def: "A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)" [PMID:7485162 "DO"] synonym: "ANK2-associated complex neurodevelopmental disorder" BROAD [] synonym: "ANK2-associated neurodevelopmental disorder" BROAD [] synonym: "ANK2-related autism" BROAD [] synonym: "LQT4" EXACT [] xref: GARD:10432 xref: MESH:C563428 xref: MONDO:0800323 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0111702 name: loose anagen hair syndrome alt_id: MIM:600628 def: "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. (DO)" [PMID:1705765 "DO", PMID:2915059 "DO"] synonym: "loose anagen syndrome" EXACT [] synonym: "loose anagen syndromes" EXACT [] xref: GARD:3287 xref: MESH:D058247 xref: ORDO:168 is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:0111703 name: familial hypertryptophanemia alt_id: DOID:9009018 def: "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. (DO)" [PMID:28285122 "DO", PMID:7628119 "DO"] synonym: "Hypertryptophanemia" EXACT [] synonym: "HYPTRP" EXACT [] xref: GARD:2871 xref: MESH:C563467 xref: MIM:600627 xref: MONDO:0010907 xref: ORDO:2224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: slaulede creation_date: 2018-06-18T16:11:15Z [Term] id: DOID:0111704 name: chromosome 2q37 deletion syndrome alt_id: MIM:600430 def: "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. (DO)" [https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome "DO", PMID:23188045 "DO", PMID:24715439 "DO", PMID:25402011 "DO"] synonym: "2q37 deletion syndrome" EXACT [] synonym: "2q37 microdeletion syndrome" EXACT [] synonym: "Albright's hereditary osteodystrophy-like syndrome" EXACT [] synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [] synonym: "Albright hereditary osteodystrophy type 3" EXACT [] synonym: "BDMR" EXACT [] synonym: "brachydactyly-intellectual disability syndrome" EXACT [] synonym: "Brachydactyly-Mental Retardation syndrome" EXACT [] synonym: "Chromosome 2, monosomy 2q37" EXACT [] synonym: "Del(2)(q37)" EXACT [] synonym: "Deletion 2q37" EXACT [] synonym: "monosomy 2q37" EXACT [] synonym: "monosomy 2q37qter" EXACT [] xref: MESH:C538317 xref: NCI:C129021 xref: ORDO:1001 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0111705 name: oculoectodermal syndrome alt_id: MIM:600268 def: "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. (DO)" [PMID:25808193 "DO", PMID:26970110 "DO"] synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [] synonym: "Aplasia Cutis Congenita with Epibulbar Dermoids" EXACT [] synonym: "oculoectodermal syndrome, somatic" EXACT [] synonym: "OES" EXACT [] synonym: "Toriello-Lacassie-Droste syndrome" EXACT [] xref: GARD:10366 xref: MESH:C563969 xref: ORDO:3339 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2658 ! dermoid cyst created_by: mtutaj creation_date: 2019-03-26T14:28:13Z [Term] id: DOID:0111706 name: oblique facial clefting 1 alt_id: MIM:600251 def: "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. (DO)" [https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification "DO", PMID:21703590 "DO", PMID:820824 "DO"] synonym: "OBLFC1" EXACT [] synonym: "oblique facial clefts" EXACT [] synonym: "Oculomaxillofacial Dysostosis" EXACT [] synonym: "oculomaxillofacial dysplasia with oblique facial clefts" EXACT [] synonym: "Richieri Costa Gorlin syndrome" EXACT [] synonym: "SPECC1L-RELATED CONDITION" BROAD [] synonym: "Tessier number 4 facial cleft" EXACT [] xref: MESH:C537736 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0111707 name: Bothnian type palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. (DO)" [PMID:23830519 "DO", PMID:7531539 "DO"] synonym: "Diffuse Palmoplantar Keratoderma, Bothnian Type" EXACT [] synonym: "PPKB" EXACT [] xref: GARD:1862 xref: MESH:C536173 xref: MIM:600231 xref: MONDO:0010849 xref: ORDO:2337 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma [Term] id: DOID:0111708 name: focal nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. (DO)" [https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal "DO", PMID:21176769 "DO"] synonym: "early onset tylosis (type B)" EXACT [] synonym: "familial tylosis" EXACT [] synonym: "FNEPPK" EXACT [] synonym: "Focal non epidermolytic palmoplantar keratoderma" EXACT [] synonym: "Focal Palmoplantar Keratoderma" EXACT [] synonym: "hyperkeratosis of the palms and soles and esophageal papillomas" EXACT [] synonym: "isolated focal non-epidermolytic palmoplantar keratoderma" EXACT [] synonym: "late onset tylosis (type A)" EXACT [] xref: MESH:C538682 xref: ORDO:448264 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:2615 ! papilloma [Term] id: DOID:0111709 name: focal nonepidermolytic palmoplantar keratoderma 1 alt_id: OMIA:002088 def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. (DO)" [PMID:8595410 "DO"] synonym: "FNEPPK1" EXACT [] synonym: "KRT16-RELATED CONDITION" BROAD [] synonym: "PPKFNE" EXACT [] xref: MIM:613000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111710 name: focal or diffuse nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. (DO)" [PMID:19609311 "DO", PMID:21801157 "DO"] synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [] synonym: "KRT6C-related condition" BROAD [] synonym: "PPKNEFD" EXACT [] xref: MIM:615735 xref: MONDO:0014327 xref: ORDO:402003 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111711 name: focal nonepidermolytic palmoplantar keratoderma 2 def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)" [PMID:25285920 "DO"] synonym: "FNEPPK2" EXACT [] synonym: "TRPV3-RELATED CONDITION" BROAD [] xref: MIM:616400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111712 name: Kagami-Ogata syndrome alt_id: MIM:608149 def: "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. (DO)" [PMID:10951461 "DO", PMID:12938037 "DO"] synonym: "Chromosome 14, Paternal Uniparental Disomy" EXACT [] synonym: "Paternal uniparental disomy 14" EXACT [] xref: MESH:C536471 xref: ORDO:254519 is_a: DOID:225 ! syndrome is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:0111713 name: Temple syndrome def: "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. (DO)" [PMID:18454453 "DO", PMID:24891339 "DO"] synonym: "maternal uniparental disomy of chromosome 14" EXACT [] xref: MIM:616222 xref: NCI:C120409 xref: ORDO:254516 is_a: DOID:225 ! syndrome is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:0111714 name: Mulchandani-Bhoj-Conlin syndrome def: "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. (DO)" [PMID:26248010 "DO"] synonym: "maternal uniparental disomy of chromosome 20" EXACT [] synonym: "maternal UPD(20)" EXACT [] synonym: "MBCS" EXACT [] synonym: "UPD(20)mat" EXACT [] xref: MIM:617352 xref: ORDO:96186 is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:0111715 name: Schaaf-Yang syndrome alt_id: MIM:615547 def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. (DO)" [PMID:27195816 "DO"] synonym: "Chitayat-Hall syndrome" EXACT [] synonym: "distal arthrogryposis with hypopituitarism, mental retardation, and facial anomalies" EXACT [] synonym: "MAGEL2-RELATED CONDITION" EXACT [] synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [] synonym: "MAGEL2-related PWLS" EXACT [] synonym: "Prader-Willi-like syndrome" EXACT [] synonym: "PWLS" EXACT [] synonym: "SHFYNG" EXACT [] xref: GARD:13316 xref: MESH:C535385 xref: NCI:C215157 xref: ORDO:398069 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:1059 ! intellectual disability is_a: DOID:11983 ! Prader-Willi syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0111716 name: cryptophthalmia def: "A physical disorder characterized by ocular dysplasia with eyelid malformation. (DO)" [PMID:30802441 "DO"] synonym: "cryptophthalmos" EXACT [] xref: ICD9CM:743.06 xref: NCI:C124520 xref: ORDO:98562 is_a: DOID:0080015 ! physical disorder is_a: DOID:530 ! eyelid disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0111717 name: isolated cryptophthalmia def: "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. (DO)" [PMID:16352480 "DO", PMID:29688405 "DO", PMID:31366340 "DO"] synonym: "CRYPTOP" EXACT [] synonym: "Cryptophthalmos with Microphthalmia and Peters Anomaly" EXACT [] synonym: "FREM2-related condition" BROAD [] synonym: "isolated unilateral or bilateral cryptophthalmos" EXACT [] synonym: "simple ankyloblepharon" EXACT [] xref: MESH:C565138 xref: MIM:123570 xref: MONDO:0007410 xref: ORDO:91396 is_a: DOID:0111716 ! cryptophthalmia [Term] id: DOID:0111718 name: partial cryptophthalmia def: "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. (DO)" [PMID:31366340 "DO"] synonym: "incomplete cryptophthalmos" EXACT [] xref: ORDO:98950 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111719 name: complete cryptophthalmia def: "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. (DO)" [PMID:31366340 "DO"] xref: ORDO:98949 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111720 name: congenital symblepharon def: "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. (DO)" [PMID:16352480 "DO", PMID:31366340 "DO"] xref: ORDO:98948 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111721 name: amelogenesis imperfecta type 3 def: "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. (DO)" [PMID:30506946 "DO"] synonym: "AI3" EXACT [] synonym: "amelogenesis imperfecta type III" EXACT [] synonym: "hypocalcified amelogenesis imperfecta" EXACT [] xref: ORDO:100032 is_a: DOID:2187 ! amelogenesis imperfecta created_by: slaulede creation_date: 2020-01-10T14:12:33Z [Term] id: DOID:0111722 name: amelogenesis imperfecta type 3C def: "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. (DO)" [PMID:30506946 "DO"] synonym: "AI3C" EXACT [] synonym: "amelogenesis imperfecta, hypocalcification type, autosomal recessive" EXACT [] synonym: "amelogenesis imperfecta type IIIC" EXACT [] synonym: "RELT-RELATED CONDITION" EXACT [] xref: MIM:618386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:0111723 name: Jacobsen Syndrome def: "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. (DO)" [PMID:4134631 "DO"] synonym: "11q23 deletion disorder" EXACT [] synonym: "11q deletion disorder" EXACT [] synonym: "11q deletion syndrome" EXACT [] synonym: "11q terminal deletion disorder" EXACT [] synonym: "chromosome 11q deletion syndrome" EXACT [] synonym: "Jacobsen distal 11q deletion syndrome" EXACT [] synonym: "Jacobsen thrombocytopenia" EXACT [] synonym: "JBS" EXACT [] synonym: "Paris Trousseau syndrome" EXACT [] synonym: "Paris Trousseau thrombocytopenia" EXACT [] synonym: "partial 11q monosomy syndrome" EXACT [] xref: GARD:307 xref: MESH:D054868 xref: MIM:147791 xref: MONDO:0007838 xref: NCI:C75457 xref: ORDO:2308 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0111724 name: geleophysic dysplasia def: "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (DO)" [https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia "DO", PMID:20301776 "DO", PMID:31516831 "DO"] synonym: "geleophysic dysplasias" EXACT [] synonym: "GPHYSD" EXACT [] xref: GARD:2449 xref: MIM:PS231050 xref: ORDO:2623 is_a: DOID:0111243 ! acromicric dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9003936 ! Cardiomegaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111725 name: geleophysic dysplasia 1 alt_id: OMIA:001509 def: "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. (DO)" [PMID:21683322 "DO"] synonym: "ADAMTSL2-RELATED CONDITION" EXACT [] synonym: "GPHYSD1" EXACT [] synonym: "Musladin-Lueke syndrome" EXACT [] xref: MIM:231050 xref: NCI:C202607 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111726 name: geleophysic dysplasia 2 def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. (DO)" [PMID:21683322 "DO"] synonym: "GPHYSD2" EXACT [] xref: MIM:614185 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111727 name: geleophysic dysplasia 3 def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1. (DO)" [PMID:27068007 "DO"] synonym: "GPHYSD3" EXACT [] xref: MIM:617809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111728 name: familial episodic pain syndrome def: "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. (DO)" [PMID:24813307 "DO", PMID:28298626 "DO"] synonym: "FEPS" EXACT [] xref: GARD:12684 xref: MIM:PS615040 xref: ORDO:391384 is_a: DOID:870 ! neuropathy is_a: DOID:9000641 ! Pain [Term] id: DOID:0111729 name: familial episodic pain syndrome 1 def: "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. (DO)" [PMID:20547126 "DO"] synonym: "FEPS1" EXACT [] synonym: "TRPA1-RELATED CONDITION" EXACT [] xref: MIM:615040 xref: ORDO:391389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111730 name: familial episodic pain syndrome 2 def: "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. (DO)" [PMID:23115331 "DO"] synonym: "FEPS2" EXACT [] xref: MIM:615551 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111731 name: familial episodic pain syndrome 3 def: "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)" [PMID:24207120 "DO"] synonym: "FEPS3" EXACT [] xref: MIM:615552 xref: NCI:C125390 xref: ORDO:391392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111732 name: Eiken syndrome def: "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)" [PMID:6734674 "DO"] synonym: "bone modeling defect of hands and feet" EXACT [] synonym: "Eiken skeletal dysplasia" EXACT [] xref: MESH:C564010 xref: MIM:600002 xref: MONDO:0010803 xref: ORDO:79106 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:0111733 name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome alt_id: DOID:9004418 def: "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. (DO)" [PMID:22158542 "DO", PMID:8071961 "DO"] synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" EXACT [] synonym: "GATA6-RELATED CONGENITAL HEART DISEASE WITH OR WITHOUT PANCREATIC AGENESIS OR NEONATAL DIABETES" EXACT [] synonym: "HDCA" EXACT [] synonym: "heart defects, congenital, and other congenital anomalies" EXACT [] synonym: "PACHD" EXACT [] synonym: "pancreatic agenesis and congenital heart defects" EXACT [] synonym: "pancreatic hypoplasia-diabetes-heart disease" EXACT [] synonym: "Yorifuji-Okuno syndrome" EXACT [] xref: MESH:C536714 xref: MESH:C564011 xref: MIM:600001 xref: MONDO:0010802 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050877 ! pancreatic agenesis is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9351 ! diabetes mellitus created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0111734 name: aminoglycoside-induced deafness def: "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. (DO)" [PMID:16152638 "DO", PMID:7689389 "DO"] synonym: "deafness, mitochondrial, modifier of" RELATED [] synonym: "streptomycin-induced deafness" EXACT [] synonym: "streptomycin ototoxicity" EXACT [] synonym: "TRMU-related condition" BROAD [] xref: MESH:C564013 xref: MIM:580000 xref: MONDO:0010799 is_a: DOID:0070310 ! drug-induced hearing loss is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2018-01-17T18:02:10Z [Term] id: DOID:0111735 name: X-linked deafness 4 alt_id: MIM:300066 def: "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. (DO)" [PMID:8872482 "DO"] synonym: "Deafness, Nonsyndromic Sensorineural Progressive 6" EXACT [] synonym: "DFN6" EXACT [] synonym: "DFNX4" EXACT [] synonym: "progressive X-linked deafness 6" EXACT [] xref: MESH:C564723 xref: NCI:C180844 is_a: DOID:0050566 ! X-linked nonsyndromic deafness created_by: mtutaj creation_date: 2019-06-25T13:28:26Z [Term] id: DOID:0111736 name: X-linked deafness 3 alt_id: MIM:300030 def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. (DO)" [PMID:18005182 "DO", PMID:7942846 "DO"] synonym: "DFN4" EXACT [] synonym: "DFNX3" EXACT [] synonym: "X-linked deafness 4, congenital sensorineural" EXACT [] xref: MESH:C564727 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111737 name: X-linked deafness 2 alt_id: DOID:0080783 alt_id: MIM:304400 def: "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. (DO)" [PMID:20412083 "DO", PMID:7839145 "DO"] synonym: "Deafness 3, conductive, with stapes fixation" EXACT [] synonym: "Deafness, Conductive, with Stapes Fixation" EXACT [] synonym: "DFN3" EXACT [] synonym: "DFNX2" EXACT [] synonym: "mixed deafness with perilymphatic gusher" EXACT [] synonym: "Nance deafness" EXACT [] synonym: "perilymphatic gusher-deafness syndrome" EXACT [] synonym: "POU3F4-RELATED CONDITION" EXACT [] synonym: "profound sensorineural deafness with or without a conductive component" EXACT [] synonym: "profound sensorineural deafness with or without a conductive component, associated with a unique developmental abnormality of the ear" EXACT [] synonym: "progressive hearing loss stapes fixation" EXACT [] synonym: "X-linked deafness type 2" EXACT [] synonym: "X-linked mixed conductive and neurosensory deafness" EXACT [] synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [] synonym: "X-linked mixed conductive and sensorineural deafness" EXACT [] synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [] synonym: "X-linked sensorineural deafness" EXACT [] synonym: "X-linked stapes gusher syndrome" EXACT [] xref: MESH:C536424 xref: ORDO:383 is_a: DOID:0050566 ! X-linked nonsyndromic deafness is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:0111738 name: X-linked deafness 7 def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. (DO)" [PMID:28096187 "DO"] synonym: "DFNX7" EXACT [] synonym: "GPRASP2-RELATED CONDITION" EXACT [] synonym: "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" EXACT [] xref: MIM:301018 xref: MONDO:0044702 xref: ORDO:500188 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111739 name: X-linked deafness 1 alt_id: MIM:304500 def: "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. (DO)" [PMID:20021999 "DO", PMID:8968763 "DO"] synonym: "DFN2" EXACT [] synonym: "DFNX1" EXACT [] synonym: "X-linked deafness 2, sensorineural congenital" EXACT [] xref: MESH:C564433 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111740 name: X-linked deafness 6 def: "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. (DO)" [PMID:23714752 "DO"] synonym: "COL4A6-RELATED CONDITION" EXACT [] synonym: "DFNX6" EXACT [] xref: MIM:300914 xref: MONDO:0010484 is_a: DOID:0050566 ! X-linked nonsyndromic deafness created_by: slaulede creation_date: 2018-09-11T14:51:18Z [Term] id: DOID:0111741 name: X-linked deafness 5 alt_id: MIM:300614 def: "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)" [PMID:16816020 "DO", PMID:25986071 "DO"] synonym: "AUNX1" EXACT [] synonym: "DFNX5" EXACT [] synonym: "X-linked auditory neuropathy 1 with peripheral sensory neuropathy" EXACT [] synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [] synonym: "X-linked deafness 5 with peripheral neuropathy" EXACT [] synonym: "X-linked HSAN with deafness" EXACT [] xref: MESH:C564472 xref: NCI:C180843 xref: ORDO:139583 is_a: DOID:0050566 ! X-linked nonsyndromic deafness is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:9001890 ! Auditory Neuropathy [Term] id: DOID:0111742 name: cerebellar ataxia type 42 def: "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. (DO)" [PMID:26456284 "DO"] synonym: "CACNA1G-RELATED CONDITION" BROAD [] synonym: "CACNA1G-RELATED DISORDERS" EXACT [] synonym: "SCA42" EXACT [] synonym: "spinocerebellar ataxia 42" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA TYPE 42" EXACT [] xref: EFO:0009059 xref: MIM:616795 xref: NCI:C171269 xref: ORDO:458803 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0111743 name: cerebellar ataxia type 47 def: "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. (DO)" [PMID:29474920 "DO"] synonym: "PUM1-associated developmental disability-ataxia-seizure syndrome" EXACT [] synonym: "PUM1-related condition" BROAD [] synonym: "SCA47" EXACT [] synonym: "spinocerebellar ataxia 47" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET" NARROW [] synonym: "spinocerebellar ataxia type 47" EXACT [] xref: MIM:620719 xref: ORDO:589515 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111744 name: cerebellar ataxia type 41 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. (DO)" [PMID:25477146 "DO"] synonym: "SCA41" EXACT [] synonym: "spinocerebellar ataxia 41" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA TYPE 41" EXACT [] synonym: "TRPC3-RELATED CONDITION" EXACT [] xref: EFO:0009058 xref: MIM:616410 xref: ORDO:458798 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111745 name: cerebellar ataxia type 43 def: "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (DO)" [PMID:27583304 "DO"] synonym: "MME-RELATED CONDITION" BROAD [] synonym: "SCA43" EXACT [] synonym: "spinocerebellar ataxia 43" EXACT [] xref: EFO:0009060 xref: MIM:617018 xref: MONDO:0014867 xref: ORDO:497764 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111746 name: cerebellar ataxia type 48 def: "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. (DO)" [PMID:30381368 "DO"] synonym: "SCA48" EXACT [] synonym: "spinocerebellar ataxia 48" EXACT [] synonym: "STUB1-RELATED CONDITION" BROAD [] xref: EFO:0010251 xref: MIM:618093 xref: MONDO:0032526 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia creation_date: 2011-07-12T00:00:00Z [Term] id: DOID:0111747 name: cerebellar ataxia type 9 def: "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. (DO)" [PMID:31632837 "DO", PMID:9159738 "DO"] synonym: "SCA9" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA 9" EXACT [] xref: GARD:10481 xref: MIM:612876 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111748 name: mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 def: "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. (DO)" [PMID:1550128 "DO"] synonym: "MC5DM1" EXACT [] xref: MIM:500015 xref: NCI:C186788 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0111749 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 6 def: "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. (DO)" [PMID:29917077 "DO"] synonym: "MC5DN6" EXACT [] synonym: "mitochondrial complex V deficiency, nuclear type 6" EXACT [] xref: EFO:0010656 xref: MIM:618683 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0111750 name: adult-onset ataxia and polyneuropathy alt_id: MIM:500010 def: "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)" [PMID:16049925 "DO"] xref: MESH:C564020 is_a: DOID:1389 ! polyneuropathy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9004866 ! Ataxia created_by: mtutaj creation_date: 2019-03-26T08:31:01Z [Term] id: DOID:0111751 name: mitochondrial nonsyndromic sensorineural deafness def: "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. (DO)" [PMID:10577941 "DO", PMID:16650816 "DO", PMID:17341440 "DO", PMID:7689389 "DO", PMID:8019558 "DO"] synonym: "mitochondrially inherited nonsyndromic sensorineural deafness" EXACT [] synonym: "mitochondrial non-syndromic sensorineural hearing loss" EXACT [] xref: MIM:500008 xref: MONDO:0010779 xref: NCI:C148321 is_a: DOID:9007966 ! Nonsyndromic Sensorineural Hearing Loss [Term] id: DOID:0111752 name: autosomal-mitochondrial sensorineural deafness alt_id: MIM:221745 def: "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. (DO)" [PMID:1613771 "DO", PMID:8817331 "DO"] synonym: "Sensorineural Deafness, Autosomal-Mitochondrial Type" EXACT [] xref: MESH:C565637 is_a: DOID:0080578 ! digenic disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0111753 name: infantile hypertrophic cardiomyopathy def: "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)" [PMID:19188198 "DO"] xref: MIM:500006 is_a: DOID:11984 ! hypertrophic cardiomyopathy [Term] id: DOID:0111754 name: Leber plus disease def: "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. (DO)" [PMID:27696015 "DO"] synonym: "LHON plus disease" EXACT [] xref: ORDO:99718 is_a: DOID:225 ! syndrome is_a: DOID:705 ! Leber hereditary optic neuropathy [Term] id: DOID:0111755 name: Leber hereditary optic neuropathy and dystonia alt_id: MIM:500001 def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. (DO)" [PMID:17562939 "DO", PMID:19458970 "DO", PMID:3711913 "DO", PMID:3736869 "DO", PMID:8644732 "DO"] synonym: "familial dystonia with visual failure and striatal lucencies" EXACT [] synonym: "LDYT" EXACT [] synonym: "Leber Hereditary Optic Neuropathy With Dystonia" EXACT [] synonym: "Leber optic atrophy with dystonia" EXACT [] synonym: "Marsden Syndrome" EXACT [] xref: MESH:C536024 is_a: DOID:0111754 ! Leber plus disease is_a: DOID:543 ! dystonia [Term] id: DOID:0111756 name: Leber hereditary optic neuropathy with demyelinating disease of CNS alt_id: DOID:9000004 def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. (DO)" [PMID:14213470 "DO"] synonym: "optic atrophy with demyelinating disease of CNS" EXACT [] xref: MESH:C563496 xref: MIM:165200 xref: MONDO:0008132 is_a: DOID:0111754 ! Leber plus disease is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:0111757 name: Y-linked deafness def: "A nonsyndromic deafness characterized by a Y-lnked inheritance mode. (DO)" [PMID:23352258 "DO"] synonym: "DFNY" EXACT [] xref: MIM:PS400043 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050738 ! Y-linked monogenic disease created_by: rgd creation_date: 2017-03-01T00:00:00Z [Term] id: DOID:0111758 name: Y-linked deafness 2 def: "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. (DO)" [PMID:30341416 "DO"] synonym: "DFNY2" EXACT [] synonym: "TBL1Y-RELATED CONDITION" EXACT [] xref: MIM:400047 is_a: DOID:0111757 ! Y-linked deafness [Term] id: DOID:0111759 name: Y-linked deafness 1 def: "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. (DO)" [PMID:18720061 "DO"] synonym: "DFNY1" EXACT [] xref: MIM:400043 is_a: DOID:0111757 ! Y-linked deafness [Term] id: DOID:0111760 name: 46,XX sex reversal alt_id: OMIA:000901 def: "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. (DO)" [https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development "DO", PMID:20301589 "DO"] synonym: "46, XX gonadal sex reversal" EXACT [] synonym: "46, XX Testicular Disorder of Sex Development" EXACT [] synonym: "46, XX Testicular Disorders of Sex Development" EXACT [] synonym: "46, XX Testicular DSD" EXACT [] synonym: "De la Chapelle syndrome" EXACT [] synonym: "SRXX" EXACT [] synonym: "XX Male Syndrome" EXACT [] synonym: "XX Male Syndromes" EXACT [] synonym: "XX Sex Reversal" EXACT [] synonym: "XX Sex Reversals" EXACT [] synonym: "XXSR" EXACT [] synonym: "XX testicular DSD" EXACT [] synonym: "XX testicular DSD (disorder of sexual development)" EXACT [] xref: GARD:399 xref: MESH:D058531 xref: ORDO:393 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:9005851 ! 46, XX Disorders of Sex Development created_by: rgd creation_date: 2015-11-11T00:00:00Z [Term] id: DOID:0111761 name: 46,XX sex reversal 1 def: "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. (DO)" [PMID:15378545 "DO"] synonym: "46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE" EXACT [] synonym: "46,XX SEX REVERSAL, SRY-POSITIVE" EXACT [] synonym: "46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE" RELATED [] synonym: "OVOTESTICULAR DISORDER OF SEX DEVELOPMENT" RELATED [] synonym: "SRXX1" EXACT [] synonym: "SRY-positive XX male" EXACT [] xref: MIM:400045 xref: NCI:C179867 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0111762 name: 46,XX sex reversal 3 def: "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. (DO)" [PMID:21183788 "DO"] synonym: "46,XX SEX REVERSAL, SOX3-CHROMOSOME Xq26 DELETION SYNDROME" NARROW [] synonym: "CHROMOSOME Xq26 DUPLICATION SYNDROME" EXACT [] synonym: "SRXX3" EXACT [] xref: MIM:300833 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0111763 name: 46,XX sex reversal 2 def: "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. (DO)" [PMID:21208124 "DO", PMID:8262517 "DO"] synonym: "chromosome 17q24 duplication syndrome" EXACT [] synonym: "SRXX2" EXACT [] xref: MIM:278850 xref: MONDO:0010218 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: mtutaj creation_date: 2019-03-21T14:46:37Z [Term] id: DOID:0111764 name: 46,XX sex reversal 4 def: "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)" [PMID:27378692 "DO"] synonym: "SRXX4" EXACT [] xref: MIM:617480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0111765 name: X-linked cardiac valvular dysplasia def: "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia "DO", PMID:17190868 "DO"] synonym: "congenital valvular heart disease" EXACT [] synonym: "CVD1" EXACT [] synonym: "CVDPX" EXACT [] synonym: "Dystrophie valvulaire associee a FLNA" EXACT [] synonym: "EDS 5" EXACT [] synonym: "EDS5" EXACT [] synonym: "Ehlers-Danlos syndrome type 5" EXACT [] synonym: "Ehlers-Danlos syndrome, type V" EXACT [] synonym: "filamin A-related X-linked myxomatous valvular dysplasia" EXACT [] synonym: "FLNA-related valvular dystrophy" EXACT [] synonym: "FLNA-related X-linked myxomatous valvular dysplasia" EXACT [] synonym: "X-linked myxomatous valvular dystrophy" EXACT [] synonym: "XMVD" EXACT [] xref: MESH:C535576 xref: MESH:C536197 xref: MIM:314400 xref: MONDO:0010753 xref: NCI:C141423 xref: NCI:C173469 xref: ORDO:555877 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:1682 ! congenital heart disease is_a: DOID:9003253 ! Myxoma is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:0111766 name: X-linked VACTERL association alt_id: MIM:276950 alt_id: MIM:314390 def: "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. (DO)" [PMID:15502827 "DO", PMID:20452998 "DO"] synonym: "VACTERL/VATER Association with Hydrocephalus" EXACT [] synonym: "VACTERL association with hydrocephaly" EXACT [] synonym: "VACTERL association with hydrocephaly, X-linked" EXACT [] synonym: "VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS" EXACT [] synonym: "VACTERL-H" EXACT [] synonym: "VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS" NARROW [] synonym: "VACTERL-H, X-Linked" EXACT [] synonym: "VACTERL hydrocephaly" EXACT [] synonym: "VACTERLX" EXACT [] synonym: "VATER/VACTERL association with CNS malformations" RELATED [] synonym: "VATER Association with Hydrocephalus" EXACT [] synonym: "VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY" NARROW [] synonym: "X-linked VACTERL association with hydrocephalus" EXACT [] synonym: "X-linked VACTERL-H syndrome" EXACT [] xref: GARD:8498 xref: MESH:C564751 xref: MESH:C564752 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:14679 ! VACTERL association is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:0111767 name: X-linked thrombocytopenia with beta-thalassemia alt_id: MIM:314050 def: "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. (DO)" [PMID:18930124 "DO", PMID:22102271 "DO"] synonym: "beta-thalassemia-X-linked thrombocytopenia syndrome" EXACT [] synonym: "Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis" EXACT [] synonym: "XLTT" EXACT [] xref: MESH:C564050 xref: NCI:C134941 xref: ORDO:231393 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12241 ! beta thalassemia is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9003603 ! Hemolysis created_by: mtutaj creation_date: 2019-03-26T14:00:27Z [Term] id: DOID:0111768 name: X-linked properdin deficiency alt_id: MESH:C564075 alt_id: MESH:C564076 alt_id: MIM:312060 def: "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. (DO)" [PMID:8530058 "DO"] synonym: "CFPD" EXACT [] synonym: "CFP-RELATED CONDITION" EXACT [] synonym: "complement factor properdin deficiency" EXACT [] synonym: "PFD" EXACT [] synonym: "properdin deficiency, type 1" EXACT [] synonym: "Properdin Deficiency, Type I" EXACT [] synonym: "Properdin Deficiency, Type II" RELATED [] synonym: "properdin deficiency, type III" RELATED [] synonym: "properdin P factor deficiency" EXACT [] xref: GARD:9913 xref: MESH:C537241 xref: ORDO:2966 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0111769 name: 46,XY sex reversal 6 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. (DO)" [PMID:1956279 "DO", PMID:21129722 "DO"] synonym: "46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED" EXACT [] synonym: "46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED" EXACT [] synonym: "46,XY sex reversal, type 6" EXACT [] synonym: "SRXY6" EXACT [] xref: MIM:613762 xref: MONDO:0013410 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis created_by: mtutaj creation_date: 2019-03-26T12:51:49Z [Term] id: DOID:0111770 name: 46,XY sex reversal 9 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. (DO)" [PMID:1956279 "DO", PMID:24549039 "DO"] synonym: "46,XY sex reversal, ZFPM2-related" EXACT [] synonym: "SRXY9" EXACT [] xref: MIM:616067 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis created_by: mtutaj creation_date: 2019-11-20T11:07:05Z [Term] id: DOID:0111771 name: 46,XY sex reversal 4 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (DO)" [PMID:10780781 "DO", PMID:19417767 "DO", PMID:1956279 "DO"] synonym: "chromosome 9p24.3 deletion syndrome" EXACT [] synonym: "complete or partial 46,XY gonadal dysgenesis with 9p24.3 deletion" EXACT [] synonym: "SRXY4" EXACT [] xref: MESH:C567887 xref: MIM:154230 xref: MONDO:0007938 xref: NCI:C132270 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis [Term] id: DOID:0111772 name: 46,XY sex reversal 3 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)" [PMID:10369247 "DO", PMID:1956279 "DO"] synonym: "46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure" EXACT [] synonym: "46,XY Sex Reversal, Partial or Complete, NR5A1-Related" EXACT [] synonym: "DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED" EXACT [] synonym: "SRXY3" EXACT [] synonym: "XY sex reversal, with or without adrenal failure" EXACT [] xref: MIM:612965 xref: MONDO:0013066 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis [Term] id: DOID:0111773 name: 46,XY sex reversal 8 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. (DO)" [PMID:1956279 "DO", PMID:21802064 "DO", PMID:4352099 "DO"] synonym: "AKR1C2-related condition" BROAD [] synonym: "AKR1C4-related condition" BROAD [] synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" EXACT [] synonym: "SRXY8" EXACT [] synonym: "TDD" EXACT [] xref: MESH:C564109 xref: MIM:614279 xref: MONDO:0013664 xref: ORDO:443087 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis [Term] id: DOID:0111774 name: 46,XY sex reversal 7 alt_id: MIM:233420 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. (DO)" [PMID:15356051 "DO", PMID:1956279 "DO"] synonym: "DHH-related 46,XY gonadal dysgenesis, complete" EXACT [] synonym: "DHH-related 46,XY gonadal dysgenesis, complete or partial" EXACT [] synonym: "DHH-related 46,XY sex reversal, partial or complete" EXACT [] synonym: "DHH-RELATED DISORDER" BROAD [] synonym: "GDXYM" EXACT [] synonym: "SRXY7" EXACT [] synonym: "XY gonadal dysgenesis, male limited" EXACT [] xref: MESH:C565537 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis created_by: mtutaj creation_date: 2019-03-21T10:59:23Z [Term] id: DOID:0111775 name: 46,XY sex reversal 10 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. (DO)" [PMID:1956279 "DO", PMID:22051515 "DO"] synonym: "chromosome 17q24 deletion syndrome" EXACT [] synonym: "SRXY10" EXACT [] xref: MIM:616425 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis [Term] id: DOID:0111776 name: 46,XY sex reversal 5 alt_id: MIM:613080 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. (DO)" [PMID:19361780 "DO", PMID:1956279 "DO"] synonym: "46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related" EXACT [] synonym: "46,XY SEX REVERSAL, CBX2-RELATED" EXACT [] synonym: "CBX2-RELATED CONDITION" EXACT [] synonym: "Disorder Of Sex Development, 46,Xy, Cbx2-Related" EXACT [] synonym: "SRXY5" EXACT [] synonym: "XY sex reversal, CBX2-related" EXACT [] xref: MESH:C567766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis [Term] id: DOID:0111777 name: 46,XY sex reversal 2 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. (DO)" [PMID:1956279 "DO", PMID:567843 "DO", PMID:7951319 "DO"] synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [] synonym: "46,XY sex reversal, DAX1-related" EXACT [] synonym: "dosage-sensitive sex reversal" EXACT [] synonym: "DSS" EXACT [] synonym: "SRXY2" EXACT [] xref: GARD:9159 xref: MESH:C535601 xref: MIM:300018 xref: MONDO:0010226 xref: NCI:C202543 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis [Term] id: DOID:0111778 name: 46,XY sex reversal 1 alt_id: DOID:9006530 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)" [PMID:1956279 "DO", PMID:2247151 "DO"] synonym: "46,XY gonadal dysgenesis, complete, SRY-related" EXACT [] synonym: "46,XY sex reversal, SRY-related" EXACT [] synonym: "46,XY true hermaphroditism, SRY-related" NARROW [] synonym: "SEX-REVERSING LOCUS ON X" NARROW [] synonym: "SRVX" NARROW [] synonym: "SRXY1" EXACT [] synonym: "TDFX" NARROW [] synonym: "X-chromosomal testis-determining factor" NARROW [] xref: MESH:C567575 xref: MIM:400044 xref: MONDO:0020712 xref: NCI:C128188 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:14448 ! 46,XY complete gonadal dysgenesis is_a: DOID:9006982 ! Ovotesticular Disorders of Sex Development [Term] id: DOID:0111779 name: X-linked panhypopituitarism def: "A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. (DO)" [PMID:15800844 "DO"] synonym: "PHPX" EXACT [] synonym: "pituitary dwarfism IV" EXACT [] synonym: "SOX3-RELATED CONDITION" BROAD [] xref: GARD:6737 xref: MESH:C538613 xref: MIM:312000 xref: MONDO:0010712 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9410 ! combined pituitary hormone deficiency [Term] id: DOID:0111780 name: TARP syndrome alt_id: MIM:311900 def: "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. (DO)" [PMID:20451169 "DO", PMID:30450804 "DO"] synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [] synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [] synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" EXACT [] synonym: "RBM10-RELATED CONDITION" EXACT [] synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left superior vena cava" EXACT [] synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [] synonym: "TARPS" EXACT [] xref: GARD:10089 xref: MESH:C536942 xref: ORDO:2886 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11836 ! clubfoot is_a: DOID:1682 ! congenital heart disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:0111781 name: Waisman syndrome def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. (DO)" [PMID:25434005 "DO"] synonym: "basal ganglia disorder with mental retardation" EXACT [] synonym: "Basal Ganglion Disorder With Mental Retardation" EXACT [] synonym: "BGMR" EXACT [] synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT [] synonym: "early onset parkinsonism with mental retardation" EXACT [] synonym: "Laxova Brown Hogan syndrome" EXACT [] synonym: "Laxova-Opitz syndrome" EXACT [] synonym: "RAB39B-RELATED CONDITION" BROAD [] synonym: "WSMN" EXACT [] synonym: "WSN" EXACT [] synonym: "X-linked recessive basal ganglia disorder with mental retardation" EXACT [] xref: GARD:3203 xref: MESH:C537179 xref: MIM:311510 xref: MONDO:0010709 xref: NCI:C184991 xref: ORDO:2379 is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0111782 name: otopalatodigital syndrome spectrum disorder def: "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (DO)" [PMID:10706363 "DO", PMID:16926860 "DO", PMID:20301567 "DO"] synonym: "fronto-otopalatodigital osteodysplasia" EXACT [] synonym: "OPD spectrum disorder" EXACT [] synonym: "OPSD" EXACT [] synonym: "otopalatodigital spectrum disorder" EXACT [] xref: MESH:C567577 xref: ORDO:364541 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111783 name: otopalatodigital syndrome type 1 alt_id: MIM:311300 def: "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. (DO)" [PMID:12612583 "DO", PMID:20301567 "DO"] synonym: "FRONTOOTOPALATODIGITAL OSTEODYSPLASIA" NARROW [] synonym: "OPD1" EXACT [] synonym: "OPD I SYNDROME" EXACT [] synonym: "OPD syndrome 1" EXACT [] synonym: "Opd Syndrome, Type 1" EXACT [] synonym: "OTOPALATODIGITAL SPECTRUM DISORDER" BROAD [] synonym: "oto-palato-digital syndrome, type 1" EXACT [] synonym: "oto-palato-digital syndrome, type I" EXACT [] synonym: "otopalatodigital syndrome type I" EXACT [] synonym: "Taybi syndrome" EXACT [] xref: GARD:5121 xref: MESH:C536065 xref: NCI:C118845 xref: ORDO:90650 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111784 name: otopalatodigital syndrome type 2 def: "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 "DO", PMID:12612583 "DO", PMID:15654694 "DO"] synonym: "Andre syndrome" EXACT [] synonym: "cranio-oro-digital syndrome" RELATED [] synonym: "cranioorodigital syndrome" RELATED [] synonym: "Faciopalatoosseous syndrome" EXACT [] synonym: "FPO" EXACT [] synonym: "OPD2" EXACT [] synonym: "OPD II Syndrome" EXACT [] synonym: "OPD Syndrome 2" EXACT [] synonym: "OPD Syndrome, Type 2" EXACT [] synonym: "oto-palato-digital syndrome, type 2" EXACT [] synonym: "otopalatodigital syndrome type II" EXACT [] xref: GARD:5802 xref: MESH:C538089 xref: MIM:304120 xref: MONDO:0010571 xref: ORDO:90652 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111785 name: frontometaphyseal dysplasia def: "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. (DO)" [PMID:12612583 "DO", PMID:15523633 "DO"] synonym: "FMD" EXACT [] xref: GARD:826 xref: MESH:C538064 xref: MIM:PS305620 is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111786 name: frontometaphyseal dysplasia 1 def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. (DO)" [PMID:12612583 "DO", PMID:15523633 "DO"] synonym: "FMD1" EXACT [] xref: MIM:305620 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111785 ! frontometaphyseal dysplasia [Term] id: DOID:0111787 name: frontometaphyseal dysplasia 2 def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. (DO)" [PMID:27426733 "DO"] synonym: "FMD2" EXACT [] synonym: "MAP3K7-RELATED CONDITION" BROAD [] synonym: "MAP3K7-RELATED DISORDER" BROAD [] xref: MIM:617137 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111785 ! frontometaphyseal dysplasia created_by: slaulede creation_date: 2018-11-09T17:18:38Z [Term] id: DOID:0111788 name: Melnick-Needles syndrome def: "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome "DO", PMID:12612583 "DO", PMID:16538226 "DO"] synonym: "Melnick Needles Osteodysplasty" EXACT [] synonym: "MNS" EXACT [] synonym: "Osteodysplasty of Melnick and Needles" EXACT [] xref: GARD:7011 xref: MIM:309350 xref: ORDO:1826 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111789 name: Frank-Ter Haar syndrome def: "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (DO)" [PMID:15523657 "DO", PMID:20137777 "DO"] synonym: "BORRONE DERMATOCARDIOSKELETAL SYNDROME" EXACT [] synonym: "Borrone Di Rocco Crovato Syndrome" EXACT [] synonym: "FTHS" EXACT [] synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" EXACT [] synonym: "Melnick-Needles syndrome, autosomal recessive" EXACT [] synonym: "SH3PXD2B-RELATED CONDITION" EXACT [] synonym: "Ter Haar syndrome" EXACT [] xref: GARD:5138 xref: MESH:C537274 xref: MIM:249420 xref: MONDO:0009579 xref: ORDO:137834 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:381 ! arthropathy is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:0111790 name: congenital nystagmus 1 def: "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26. (DO)" [PMID:17013395 "DO"] synonym: "congenital motor nystagmus" EXACT [] synonym: "congenital motor nystagmus 1" EXACT [] synonym: "FRMD7-related condition" EXACT [] synonym: "FRMD7-related infantile nystagmus" EXACT [] synonym: "IIN" NARROW [] synonym: "NYS1" EXACT [] synonym: "Nystagmus 1, Congenital, X- Linked" EXACT [] synonym: "Nystagmus 1, Infantile, X-Linked" EXACT [] synonym: "NYSTAGMUS, INFANTILE IDIOPATHIC" NARROW [] synonym: "NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED" NARROW [] synonym: "XIPAN" NARROW [] synonym: "X-linked congenital nystagmus" EXACT [] synonym: "X-linked idiopathic infantile nystagmus" EXACT [] synonym: "X-linked infantile nystagmus" EXACT [] synonym: "XLPAN" NARROW [] xref: GARD:2969 xref: MESH:C537853 xref: MESH:C580539 xref: MIM:310700 xref: MONDO:0010693 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9649 ! congenital nystagmus created_by: slaulede creation_date: 2019-06-28T10:46:49Z [Term] id: DOID:0111791 name: congenital nystagmus 7 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. (DO)" [PMID:22065086 "DO"] synonym: "congenital nystagmus 7, autosomal dominant" EXACT [] synonym: "NYS7" EXACT [] xref: MIM:614826 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111792 name: congenital nystagmus 2 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. (DO)" [PMID:8661013 "DO"] synonym: "congenital motor nystagmus 2" EXACT [] synonym: "NYS2" EXACT [] synonym: "Nystagmus 2, Congenital, Autosomal Dominant" EXACT [] xref: GARD:9599 xref: MESH:C537854 xref: MIM:164100 xref: MONDO:0008106 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus created_by: mtutaj creation_date: 2020-01-21T14:21:39Z [Term] id: DOID:0111793 name: congenital nystagmus 3 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. (DO)" [PMID:9806847 "DO"] synonym: "congenital nystagmus 3, autosomal dominant" EXACT [] synonym: "NYS3" EXACT [] xref: GARD:9600 xref: MESH:C537855 xref: MIM:608345 xref: MONDO:0012015 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111795 name: congenital nystagmus 6 def: "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. (DO)" [PMID:17516023 "DO"] synonym: "congenital nystagmus 6, X-linked" EXACT [] synonym: "GPR143-RELATED CONDITION" BROAD [] synonym: "NYS6" EXACT [] xref: MIM:300814 is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111796 name: congenital nystagmus 5 def: "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. (DO)" [PMID:10090899 "DO"] synonym: "congenital nystagmus 5, X-linked" EXACT [] synonym: "NYS5" EXACT [] xref: MIM:300589 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111797 name: autosomal recessive congenital nystagmus alt_id: DOID:9003086 def: "A congenital nystagmus characterized by autosomal recessive inheritance. (DO)" [https://europepmc.org/article/med/305814 "DO"] synonym: "congenital motor nystagmus, autosomal recessive" EXACT [] xref: MESH:C564938 xref: MONDO:0009762 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111798 name: X-linked nephrolithiasis type I alt_id: MIM:310468 def: "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. (DO)" [PMID:15558518 "DO", PMID:8559248 "DO"] synonym: "Nephrolithiasis 1" EXACT [] synonym: "NEPHROLITHIASIS, X-LINKED RECESSIVE" EXACT [] synonym: "Nephrolithiasis, X-Linked Recessive, Type 1" EXACT [] synonym: "NPHL1" EXACT [] synonym: "Urolithiasis, X-Linked Recessive, Type 1" EXACT [] synonym: "X-linked nephrolithiasis with renal failure" EXACT [] synonym: "X-linked recessive nephrolithiasis with renal failure" EXACT [] synonym: "XRN" EXACT [] xref: MESH:C562901 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080652 ! calcium oxalate nephrolithiasis is_a: DOID:1074 ! kidney failure is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0111799 name: syndromic microphthalmia 1 alt_id: DOID:0111810 alt_id: MIM:309800 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome "DO", PMID:13300470 "DO", PMID:24431331 "DO", PMID:30842225 "DO"] comment: type 4 obsoleted by omim, merged into type 1[LS] synonym: "ANOP1" EXACT [] synonym: "ANOPHTHALMIA - MICROPHTHALMIA" EXACT [] synonym: "Lenz dysmorphogenic syndrome" EXACT [] synonym: "Lenz dysplasia" EXACT [] synonym: "Lenz microphthalmia" EXACT [] synonym: "Lenz microphthalmia syndrome" EXACT [] synonym: "Lenz syndrome" EXACT [] synonym: "Lenz type microphthalmia" EXACT [] synonym: "MAA" EXACT [] synonym: "MCOPS1" EXACT [] synonym: "MCOPS4" NARROW [] synonym: "microphthalmia-ankyloblepharon-intellectual disability syndrome" EXACT [] synonym: "microphthalmia or anophthalmos with associated anomalies" EXACT [] synonym: "microphthalmia with ankyloblepharon and mental retardation" EXACT [] synonym: "NAA10-RELATED CONDITION" BROAD [] synonym: "syndromic microphthalmia 4" NARROW [] xref: GARD:5066 xref: GARD:87 xref: MESH:C537464 xref: ORDO:568 xref: ORDO:85275 is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:9002049 ! Anophthalmia is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0111800 name: syndromic microphthalmia 12 def: "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. (DO)" [PMID:17506106 "DO", PMID:24075189 "DO"] synonym: "MCOPS12" EXACT [] synonym: "Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects" EXACT [] synonym: "RARB-related condition" BROAD [] xref: GARD:13235 xref: MIM:615524 xref: MONDO:0014229 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia created_by: slaulede creation_date: 2019-06-21T11:40:53Z [Term] id: DOID:0111801 name: syndromic microphthalmia 3 def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. (DO)" [PMID:12612584 "DO", PMID:20803647 "DO"] synonym: "AEG syndrome" EXACT [] synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT [] synonym: "anophthalmia, cinical, with associated anomalies" EXACT [] synonym: "anophthalmia clinical with associated anomalies" EXACT [] synonym: "anophthalmia-esophageal-genital syndrome" EXACT [] synonym: "anophthalmia microphthalmia esophageal atresia" EXACT [] synonym: "MCOPS3" EXACT [] synonym: "Microphthalmia And Esophageal Atresia Syndrome" EXACT [] synonym: "optic nerve hypoplasia and abnormalities of the central nervous system" NARROW [] synonym: "SOX2 anophthalmia syndrome" EXACT [] synonym: "SOX2-related eye disorders" BROAD [] synonym: "syndromic microphthalmia type 3" EXACT [] xref: GARD:1443 xref: MESH:C565948 xref: MIM:206900 xref: MONDO:0008799 xref: ORDO:77298 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:10485 ! esophageal atresia is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0111802 name: syndromic microphthalmia 14 def: "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. (DO)" [PMID:24906020 "DO"] synonym: "colobomatous microphthalmia-rhizomelic dysplasia syndrome" EXACT [] synonym: "MAB21L2-RELATED CONDITION" EXACT [] synonym: "MCOPS14" EXACT [] synonym: "MCSKS" EXACT [] synonym: "MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME" EXACT [] synonym: "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia" EXACT [] synonym: "MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA" EXACT [] synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" EXACT [] xref: MIM:615877 xref: ORDO:424099 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:12270 ! coloboma [Term] id: DOID:0111803 name: syndromic microphthalmia 8 alt_id: MIM:601349 def: "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)" [PMID:12471201 "DO"] synonym: "MCOPS8" EXACT [] synonym: "microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism" EXACT [] synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [] synonym: "MMEP" EXACT [] synonym: "MMEP syndrome" EXACT [] synonym: "syndromic microphthalmia type 8" EXACT [] synonym: "Viljoen-Smart syndrome" EXACT [] xref: GARD:3693 xref: MESH:C537686 xref: ORDO:3434 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:10907 ! microcephaly is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9003576 ! Prognathism [Term] id: DOID:0111804 name: syndromic microphthalmia 11 def: "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)" [PMID:22095910 "DO"] synonym: "MCOPS11" EXACT [] synonym: "VAX1-RELATED CONDITION" EXACT [] xref: MIM:614402 is_a: DOID:0080636 ! syndromic microphthalmia created_by: mtutaj creation_date: 2020-03-02T08:45:39Z [Term] id: DOID:0111805 name: syndromic microphthalmia 6 alt_id: MIM:607932 def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. (DO)" [PMID:18252212 "DO", PMID:21340693 "DO"] synonym: "Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia" EXACT [] synonym: "Bakrania-Ragge syndrome" EXACT [] synonym: "BMP4-RELATED CONDITION" BROAD [] synonym: "BMP4-RELATED SYNDROMIC MICROPHTHALMIA" EXACT [] synonym: "MCOPS6" EXACT [] synonym: "Microphthalmia And Pituitary Anomalies" EXACT [] synonym: "microphthalmia with brain and digit anomalies" EXACT [] synonym: "microphthalmia with brain and digit developmental anomalies" EXACT [] synonym: "syndromic microphthalmia type 6" EXACT [] xref: GARD:3645 xref: MESH:C566440 xref: ORDO:139471 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0111806 name: syndromic microphthalmia 5 alt_id: MIM:610125 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. (DO)" [PMID:15846561 "DO"] synonym: "ANOPHTHALMIA-MICROPHTHALMIA SYNDROME" EXACT [] synonym: "early-onset retinal dystrophy and pituitary dysfunction" NARROW [] synonym: "MCOPS5" EXACT [] synonym: "MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION," EXACT [] synonym: "OTX2-RELATED SYNDROMIC MICROPHTHALMIA" EXACT [] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [] synonym: "syndromic microphthalmia type 5" EXACT [] xref: GARD:3692 xref: MESH:C566441 xref: ORDO:178364 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111807 name: syndromic microphthalmia 9 alt_id: DOID:0050819 alt_id: MIM:601186 def: "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. (DO)" [PMID:17236193 "DO", PMID:17273977 "DO", PMID:26373900 "DO"] synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" EXACT [] synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [] synonym: "Anophthalmia with Pulmonary Hypoplasia" EXACT [] synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" EXACT [] synonym: "clinical anophthalmia with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm" EXACT [] synonym: "ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME" EXACT [] synonym: "Matthew-Wood syndrome" EXACT [] synonym: "MCOPCB8" NARROW [] synonym: "MCOPS9" EXACT [] synonym: "PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8" NARROW [] synonym: "PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT" NARROW [] synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" EXACT [] synonym: "Spear Syndrome" EXACT [] synonym: "STRA6-RELATED CONDITION" EXACT [] synonym: "syndromic microphthalmia type 9" EXACT [] xref: MESH:C537768 xref: ORDO:2470 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:850 ! lung disease is_a: DOID:9002049 ! Anophthalmia created_by: slaulede creation_date: 2019-10-10T16:54:05Z [Term] id: DOID:0111808 name: linear skin defects with multiple congenital anomalies 1 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. (DO)" [PMID:17033964 "DO"] synonym: "HCCS-related condition" BROAD [] synonym: "LSDMCA1" EXACT [] synonym: "MCOPS7" EXACT [] synonym: "microphthalmia, dermal aplasia, and sclerocornea" EXACT [] synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [] synonym: "microphthalmia with linear skin defect syndrome" EXACT [] synonym: "microphthalmia with linear skin lesions syndrome" EXACT [] synonym: "Midas syndrome" EXACT [] synonym: "syndromic microphthalmia 7" EXACT [] synonym: "syndromic microphthalmia type 7" EXACT [] xref: MESH:C537466 xref: MIM:309801 xref: MONDO:0024552 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111809 name: syndromic microphthalmia 2 def: "A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome "DO", PMID:15004558 "DO", PMID:19367324 "DO", PMID:8723122 "DO"] synonym: "ANOP2" EXACT [] synonym: "BCOR-related condition" BROAD [] synonym: "BCOR-related disorder" BROAD [] synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [] synonym: "cataracts, microphthalmia, radiculomegaly and septal heart defects" EXACT [] synonym: "MAA2" EXACT [] synonym: "Marashi Gorlin syndrome" EXACT [] synonym: "MCOPS2" EXACT [] synonym: "oculo facio cardio dental syndrome" EXACT [] synonym: "oculofaciocardiodental syndrome" EXACT [] synonym: "OFCD syndrome" EXACT [] synonym: "syndromic microphthalmia type 2" EXACT [] xref: GARD:4628 xref: MESH:C537465 xref: MIM:300166 xref: MONDO:0010261 xref: ORDO:2712 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:1681 ! heart septal defect is_a: DOID:83 ! cataract [Term] id: DOID:0111811 name: syndromic microphthalmia 13 def: "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. (DO)" [PMID:24993872 "DO", PMID:4998085 "DO"] synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" EXACT [] synonym: "MAINE MICROPHTHALMOS" EXACT [] synonym: "MCOPS13" EXACT [] synonym: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" EXACT [] xref: MIM:300915 xref: ORDO:431140 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:10907 ! microcephaly [Term] id: DOID:0111812 name: syndromic microphthalmia 10 alt_id: MIM:611222 def: "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. (DO)" [PMID:16566018 "DO"] synonym: "MCOPS10" EXACT [] synonym: "microphthalmia and brain atrophy" EXACT [] synonym: "microphthalmia-brain atrophy syndrome" EXACT [] synonym: "MOBA" EXACT [] xref: GARD:9292 xref: MESH:C566985 xref: ORDO:77299 is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0111813 name: syndactyly type 8 alt_id: MIM:309630 def: "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. (DO)" [PMID:23709756 "DO"] synonym: "fusion of metacarpals 4 and 5" EXACT [] synonym: "Metacarpal 4 5 Fusion" EXACT [] synonym: "MF4" EXACT [] xref: GARD:3559 xref: MESH:C564100 xref: ORDO:2498 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11193 ! syndactyly is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111814 name: methylmalonic acidemia and homocysteinemia cblX type alt_id: MESH:C563136 def: "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)" [PMID:23000143 "DO", PMID:24011988 "DO"] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [] synonym: "MAXCX" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [] synonym: "MRX3" EXACT [] synonym: "XLID3" EXACT [] synonym: "X-linked intellectual developmental disorder 3" EXACT [] synonym: "X-linked mental retardation 3" EXACT [] xref: MIM:309541 xref: ORDO:369962 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0111815 name: low molecular weight proteinuria with hypercalciuric nephrocalcinosis def: "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. (DO)" [PMID:9062355 "DO"] synonym: "low molecular weight proteinuria with hypercalciuria and nephrocalcinosis" EXACT [] xref: MESH:C545036 xref: MIM:308990 xref: MONDO:0010644 is_a: DOID:0050699 ! Dent disease is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:0111816 name: syndactyly type 1 def: "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. (DO)" [PMID:21167467 "DO", PMID:7915184 "DO"] synonym: "CHROMOSOME 2q35 DUPLICATION SYNDROME" EXACT [] synonym: "craniosynostosis, Philadelphia type" NARROW [] synonym: "SD1" EXACT [] synonym: "SDTY1" EXACT [] synonym: "syndactyly type 1, with or without craniosynostosis" EXACT [] synonym: "syndactyly type I" EXACT [] synonym: "zygodactyly 2" EXACT [] xref: GARD:5081 xref: MESH:C566096 xref: MIM:185900 xref: MONDO:0008512 xref: ORDO:93402 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111817 name: syndactyly type 3 alt_id: MIM:186100 def: "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. (DO)" [PMID:12457340 "DO", PMID:14361398 "DO"] synonym: "familial syndactyly type 3" EXACT [] synonym: "Ring and little finger syndactyly" EXACT [] synonym: "ringand little finger syndactyly" EXACT [] synonym: "SDTY3" EXACT [] synonym: "syndactyly of fingers 4 and 5" EXACT [] synonym: "Syndactyly of fingers four and five" EXACT [] synonym: "syndactyly of fingers IV and V" EXACT [] synonym: "syndactyly of the ring and little finger" EXACT [] synonym: "syndactyly type III" EXACT [] xref: GARD:5088 xref: MESH:C538154 xref: ORDO:93404 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111818 name: syndactyly type 4 alt_id: MIM:186200 def: "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [PMID:17476456 "DO"] synonym: "Haas type polysyndactyly" EXACT [] synonym: "Haas type syndactyly" EXACT [] synonym: "SD4" EXACT [] synonym: "SDTY4" EXACT [] synonym: "syndactyly type IV" EXACT [] xref: GARD:4434 xref: MESH:C566092 xref: ORDO:93405 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:1148 ! polydactyly [Term] id: DOID:0111819 name: syndactyly type 5 alt_id: MIM:186300 def: "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. (DO)" [PMID:16222680 "DO"] synonym: "SDTY5" EXACT [] synonym: "syndactyly type V" EXACT [] synonym: "syndactyly with associated metacarpal and metatarsal fusion" EXACT [] synonym: "syndactyly with metacarpal and metatarsal fusion" EXACT [] xref: GARD:5089 xref: MESH:C538155 xref: ORDO:93406 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111820 name: zygodactyly 1 def: "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. (DO)" [PMID:16189548 "DO", PMID:27072775 "DO"] synonym: "ZD1" EXACT [] xref: MESH:C565223 xref: MIM:609815 xref: MONDO:0012351 is_a: DOID:11193 ! syndactyly created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0111821 name: ichthyosis follicularis-alopecia-photophobia syndrome 1 def: "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)" [PMID:22105905 "DO", PMID:4037843 "DO"] synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT [] synonym: "ichthyosis follicularis-atrichia-photophobia syndrome 1" EXACT [] synonym: "IFAP1" EXACT [] synonym: "IFAP syndrome 1" EXACT [] synonym: "IFAP syndrome-1 with or without Bresheck syndrome" EXACT [] synonym: "IFAP syndrome with or without Bresheck syndrome" EXACT [] xref: MESH:C536085 xref: MIM:308205 xref: MONDO:0100213 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9002152 ! IFAP Syndrome created_by: mtutaj creation_date: 2019-12-03T10:50:34Z [Term] id: DOID:0111822 name: CHILD syndrome alt_id: MIM:308050 alt_id: OMIA:002117 def: "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. (DO)" [PMID:7408908 "DO"] synonym: "CHILD nevus" EXACT [] synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" EXACT [] synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [] synonym: "NSDHL-RELATED CONDITION" BROAD [] synonym: "unilateral ichthyosiform erythroderma, with ipsilateral malformations, especially absence deformity of limbs" EXACT [] xref: GARD:6039 xref: MESH:C562515 xref: ORDO:139 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111823 name: autosomal hemophilia A def: "A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency. (DO)" [PMID:1169993 "DO"] synonym: "autosomal factor VIII deficiency" EXACT [] synonym: "MILD HEMOPHILIA A" NARROW [] xref: MIM:134500 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0061030 ! hemophilia is_a: DOID:12134 ! factor VIII deficiency [Term] id: DOID:0111824 name: Aarskog syndrome def: "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. (DO)" [https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome "DO"] synonym: "Aarskog disease" EXACT [] synonym: "Aarskog-like syndrome" NARROW [] synonym: "Aarskog-Scott syndrome" EXACT [] synonym: "AAS" EXACT [] synonym: "Facio-Digito-Genital Dysplasia" EXACT [] synonym: "faciodigitogenital syndrome" EXACT [] synonym: "faciodigitogenital syndrome, recessive" NARROW [] synonym: "faciogenital dysplasia" EXACT [] synonym: "FGDY" EXACT [] synonym: "Kuwait type faciodigitogenital syndrome" NARROW [] xref: MESH:C535331 xref: MIM:227330 xref: ORDO:915 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111825 name: autosomal dominant Aarskog syndrome def: "An Aarskog syndrome characterized by autosomal dominant inheritance. (DO)" [PMID:6344635 "DO"] xref: MIM:100050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111824 ! Aarskog syndrome [Term] id: DOID:0111826 name: Abruzzo-Erickson syndrome def: "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. (DO)" [PMID:22784330 "DO", PMID:839509 "DO"] synonym: "ABERS" EXACT [] synonym: "Charge-Like Syndrome, X-Linked" EXACT [] synonym: "cleft palate-coloboma-deafness syndrome" EXACT [] synonym: "TBX22-related condition" BROAD [] xref: GARD:360 xref: MESH:C535559 xref: MIM:302905 xref: MONDO:0010554 xref: ORDO:921 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities created_by: mtutaj creation_date: 2019-03-26T12:22:42Z [Term] id: DOID:0111827 name: X-linked spinal muscular atrophy 2 alt_id: MIM:301830 def: "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy "DO", PMID:18179898 "DO", PMID:3341327 "DO"] synonym: "Amcx1" EXACT [] synonym: "Arthrogryposis, X-Linked, Type I" EXACT [] synonym: "distal AMC, X-linked" EXACT [] synonym: "Distal Arthrogryposis Multiplex Congenita, X-Linked" EXACT [] synonym: "infantile-onset X-linked spinal muscular atrophy" EXACT [] synonym: "Smax2" EXACT [] synonym: "spinal muscular atrophy with arthrogryposis" EXACT [] synonym: "UBA1-RELATED DISORDER" BROAD [] synonym: "X-linked spinal muscular atrophy, infantile" EXACT [] synonym: "X-linked spinal muscular atrophy, lethal infantile" EXACT [] synonym: "X-linked spinal muscular atrophy type 2" EXACT [] synonym: "XLSMA" EXACT [] xref: GARD:8521 xref: MESH:C535380 xref: ORDO:1145 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111828 name: X-linked cerebellar ataxia def: "A hereditary ataxia characterized by X-linked inheritance. (DO)" [PMID:10807077 "DO"] xref: ORDO:247765 is_a: DOID:0050953 ! X-linked hereditary ataxia [Term] id: DOID:0111829 name: X-linked spinocerebellar ataxia 1 def: "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (DO)" [PMID:10797423 "DO", PMID:22912398 "DO"] synonym: "ATP2B3-RELATED DISORDER" EXACT [] synonym: "Olivopontocerebellar Atrophy, X-Linked" EXACT [] synonym: "OPCAX" EXACT [] synonym: "OPCA, X-Linked" EXACT [] synonym: "SCAX1" EXACT [] synonym: "X-linked progressive cerebellar ataxia" EXACT [] synonym: "X-linked spinocerebellar ataxia" EXACT [] xref: MESH:C563134 xref: MIM:302500 xref: MONDO:0010547 xref: ORDO:1175 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:14784 ! olivopontocerebellar atrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111830 name: X-linked spinocerebellar ataxia 2 def: "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. (DO)" [PMID:13541590 "DO"] synonym: "early-onset cerebellar ataxia with extrapyramidal involvement" EXACT [] synonym: "SCAX2" EXACT [] xref: GARD:9978 xref: MESH:C537314 xref: MIM:302600 xref: MONDO:0010548 is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111831 name: X-linked spinocerebellar ataxia 3 alt_id: MIM:301790 def: "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. (DO)" [PMID:3614654 "DO"] synonym: "SCAX3" EXACT [] synonym: "Schmidley syndrome" EXACT [] synonym: "X-linked ataxia-deafness syndrome" EXACT [] synonym: "X-linked spinocerebellar ataxia type 3" EXACT [] xref: GARD:9981 xref: MESH:C537315 xref: ORDO:85297 is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111832 name: X-linked spinocerebellar ataxia 4 alt_id: MIM:301840 def: "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. (DO)" [PMID:3470628 "DO"] synonym: "SCAX4" EXACT [] synonym: "X-linked ataxia-dementia syndrome" EXACT [] synonym: "X-linked spinocerebellar ataxia type 4" EXACT [] xref: GARD:9980 xref: MESH:C537316 xref: ORDO:85292 is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111833 name: X-linked spinocerebellar ataxia 5 def: "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. (DO)" [PMID:18241076 "DO"] synonym: "SCAX5" EXACT [] synonym: "X-linked non progressive cerebellar ataxia" EXACT [] xref: MESH:C567478 xref: MIM:300703 xref: MONDO:0010404 xref: ORDO:314978 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias created_by: mtutaj creation_date: 2019-07-15T08:51:37Z [Term] id: DOID:0111834 name: X-linked reticulate pigmentary disorder def: "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)" [PMID:27019227 "DO"] synonym: "familial cutaneous amyloidosis" EXACT [] synonym: "Partington disease" EXACT [] synonym: "PDR" EXACT [] synonym: "Pigmentary disorder, reticulate, with systemic manifestations, X-linked" EXACT [] synonym: "POLA1-RELATED CONDITION" BROAD [] synonym: "reticulate pigmentary disorder with systemic manifestations" EXACT [] synonym: "X-linked reticulate pigmentary disorder with systemic manifestations" EXACT [] synonym: "XLPDR" EXACT [] xref: MESH:C564461 xref: MIM:301220 xref: ORDO:85453 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111835 name: congenital nongoitrous hypothyroidism 9 def: "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. (DO)" [PMID:30061370 "DO"] synonym: "CHNG9" EXACT [] xref: MIM:301035 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0111836 name: congenital nongoitrous hypothyroidism 7 alt_id: MIM:618573 def: "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. (DO)" [PMID:9141550 "DO"] synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [] synonym: "CHNG7" EXACT [] synonym: "generalized thyrotropin-releasing hormone resistance" EXACT [] synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [] synonym: "TRH resistance syndrome" EXACT [] synonym: "TRHR-RELATED CONDITION" EXACT [] xref: MESH:C566049 xref: ORDO:99832 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0111837 name: congenital nongoitrous hypothyroidism 8 def: "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. (DO)" [PMID:27603907 "DO"] synonym: "CHNG8" EXACT [] synonym: "TBL1X-RELATED CONDITION" EXACT [] xref: MIM:301033 xref: MONDO:0026731 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism created_by: rgd creation_date: 2017-03-28T00:00:00Z [Term] id: DOID:0111838 name: Basilicata-Akhtar syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. (DO)" [PMID:30224647 "DO"] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36" EXACT [] synonym: "MRXS36" EXACT [] synonym: "MRXSBA" EXACT [] synonym: "MSL3-RELATED CONDITION" EXACT [] synonym: "syndromic X-linked mental retardation 36" EXACT [] synonym: "syndromic X-linked mental retardation, Basilicata-Akhtar type" EXACT [] xref: MIM:301032 xref: MONDO:0026730 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0111839 name: congenital disorder of glycosylation Icc def: "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. (DO)" [PMID:31036665 "DO"] synonym: "CDG1CC" EXACT [] synonym: "congenital disorder of glycosylation type 1cc" EXACT [] synonym: "congenital disorder of glycosylation type Icc" EXACT [] synonym: "MAGT1-related condition" BROAD [] xref: MIM:301031 xref: MONDO:0026729 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111840 name: Van Esch-O'Driscoll syndrome def: "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)" [PMID:31006512 "DO"] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O'DRISCOLL TYPE" EXACT [] synonym: "MRXSVEOD" EXACT [] synonym: "POLA1-RELATED CONDITION" BROAD [] synonym: "VEODS" EXACT [] synonym: "X-LINKED INTELLECTUAL DISABILITY, VAN ESCH TYPE" EXACT [] xref: MIM:301030 xref: ORDO:163976 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111841 name: Shukla-Vernon syndrome def: "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. (DO)" [PMID:30941876 "DO"] synonym: "BCORL1-RELATED CONDITION" EXACT [] synonym: "SHUVER" EXACT [] xref: EFO:0010278 xref: MIM:301029 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:0111842 name: Keipert syndrome alt_id: MIM:301026 def: "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. (DO)" [PMID:30982611 "DO"] synonym: "GPC4-RELATED CONDITION" EXACT [] synonym: "KPTS" EXACT [] synonym: "nasodigitoacoustic syndrome" EXACT [] xref: GARD:267 xref: MESH:C538337 xref: NCI:C186306 xref: ORDO:2662 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital is_a: DOID:9008681 ! Deafness [Term] id: DOID:0111843 name: Paganini-Miozzo syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. (DO)" [PMID:30471091 "DO"] synonym: "HS6ST2-RELATED CONDITION" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE" EXACT [] synonym: "MRXSPM" EXACT [] xref: EFO:0010261 xref: MIM:301025 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:0111844 name: X-linked intellectual developmental disorder 108 def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. (DO)" [PMID:30335141 "DO"] synonym: "MRX108" EXACT [] synonym: "SLC9A7-related condition" BROAD [] synonym: "XLID108" EXACT [] synonym: "X-linked mental retardation 108" EXACT [] xref: MIM:301024 xref: MONDO:0026723 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111845 name: Mullegama-Klein-Martinez syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (DO)" [PMID:28296084 "DO", PMID:30765867 "DO"] synonym: "MKMS" EXACT [] synonym: "NEDXCF" EXACT [] synonym: "STAG2-related condition" BROAD [] synonym: "STAG2-related disorder" BROAD [] synonym: "X-linked neurodevelopmental disorder with craniofacial abnormalities" EXACT [] xref: MIM:301022 xref: MONDO:0026722 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: gthayman creation_date: 2019-04-12T07:15:14Z [Term] id: DOID:0111846 name: X-linked congenital hemolytic anemia def: "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. (DO)" [PMID:26944472 "DO"] synonym: "ATP11C-RELATED CONDITION" EXACT [] synonym: "HACXL" EXACT [] xref: MIM:301015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:0111847 name: osteogenesis imperfecta type 19 def: "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. (DO)" [PMID:27380894 "DO"] synonym: "OI19" EXACT [] synonym: "osteogenesis imperfecta type XIX" EXACT [] xref: MIM:301014 xref: MONDO:0049223 xref: NCI:C164153 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111848 name: osteogenesis imperfecta type 18 def: "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. (DO)" [PMID:29358272 "DO"] synonym: "OI18" EXACT [] synonym: "osteogenesis imperfecta type XVIII" EXACT [] synonym: "TENT5A-related condition" BROAD [] xref: MIM:617952 xref: MONDO:0044329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta created_by: mtutaj creation_date: 2019-03-20T09:45:39Z [Term] id: DOID:0111849 name: osteogenesis imperfecta type 20 def: "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. (DO)" [PMID:31564437 "DO"] synonym: "MESD-RELATED CONDITION" EXACT [] synonym: "OI20" EXACT [] synonym: "osteogenesis imperfecta type XX" EXACT [] xref: MIM:618644 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111850 name: primary ciliary dyskinesia 36 def: "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. (DO)" [PMID:28041644 "DO"] synonym: "CILD36" EXACT [] synonym: "DNAAF6-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 36, with or without situs inversus" EXACT [] synonym: "X-linked primary ciliary dyskinesia 36" EXACT [] xref: MIM:300991 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: slaulede creation_date: 2018-08-16T17:22:29Z [Term] id: DOID:0111851 name: primary ciliary dyskinesia 44 def: "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. (DO)" [PMID:31959991 "DO"] synonym: "CILD44" EXACT [] synonym: "primary ciliary dyskinesia 44 without situs inversus" EXACT [] xref: MIM:618781 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111852 name: primary ciliary dyskinesia 38 def: "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (DO)" [PMID:29727692 "DO", PMID:29727693 "DO"] synonym: "CFAP300-RELATED CONDITION" EXACT [] synonym: "CILD38" EXACT [] synonym: "primary ciliary dyskinesia 38 with or without situs inversus" EXACT [] xref: MIM:618063 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0111853 name: primary ciliary dyskinesia 40 def: "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (DO)" [PMID:30471717 "DO", PMID:30471718 "DO"] synonym: "CILD40" EXACT [] synonym: "DNAH9-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 40 with or without situs inversus" EXACT [] xref: MIM:618300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: slaulede creation_date: 2018-06-18T17:13:56Z [Term] id: DOID:0111854 name: primary ciliary dyskinesia 39 def: "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. (DO)" [PMID:30388400 "DO"] synonym: "CILD39" EXACT [] synonym: "LRRC56-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 39 with or without situs inversus" EXACT [] xref: MIM:618254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111855 name: primary ciliary dyskinesia 42 def: "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. (DO)" [PMID:25048963 "DO"] synonym: "CILD42" EXACT [] synonym: "MCIDAS-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 42 without situs inversus" EXACT [] xref: MIM:618695 xref: NCI:C202610 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111856 name: primary ciliary dyskinesia 43 def: "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. (DO)" [PMID:31630787 "DO"] synonym: "CILD43" EXACT [] synonym: "FOXJ1-RELATED DISORDER" EXACT [] synonym: "primary ciliary dyskinesia 43 with or without situs inversus" EXACT [] xref: MIM:618699 xref: MONDO:0032874 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:0111857 name: primary ciliary dyskinesia 45 def: "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. (DO)" [PMID:31978331 "DO"] synonym: "CILD45" EXACT [] synonym: "primary ciliary dyskinesia 45 without situs inversus" EXACT [] synonym: "TTC12-RELATED CONDITION" EXACT [] xref: MIM:618801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111858 name: primary ciliary dyskinesia 41 def: "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. (DO)" [PMID:30665704 "DO"] synonym: "CILD41" EXACT [] synonym: "GAS2L2-RELATED CONDITION" EXACT [] xref: MIM:618449 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2015-07-14T00:00:00Z [Term] id: DOID:0111859 name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis def: "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. (DO)" [PMID:27811305 "DO"] synonym: "AMMECR1-RELATED CONDITION" EXACT [] synonym: "MFHIEN" EXACT [] xref: MIM:300990 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:225 ! syndrome is_a: DOID:2373 ! hereditary elliptocytosis is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111860 name: AMME complex alt_id: MIM:300194 def: "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. (DO)" [PMID:12011158 "DO"] synonym: "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" EXACT [] synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" EXACT [] synonym: "AMME syndrome" EXACT [] synonym: "ATS-MR" EXACT [] synonym: "chromosome Xq22.3 telomeric deletion syndrome" EXACT [] xref: MESH:C564570 xref: ORDO:86818 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10983 ! Alport syndrome is_a: DOID:2373 ! hereditary elliptocytosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111861 name: Meester-Loeys syndrome def: "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. (DO)" [PMID:27632686 "DO"] synonym: "BGN-RELATED CONDITION" BROAD [] synonym: "MRLS" EXACT [] xref: MIM:300989 xref: NCI:C187989 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2019-03-19T15:36:14Z [Term] id: DOID:0111862 name: congenital bilateral absence of vas deferens def: "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. (DO)" [PMID:27476656 "DO"] synonym: "absence of vas deferens" EXACT [] synonym: "absent vasa" EXACT [] synonym: "CAVD" EXACT [] synonym: "CBAVD" EXACT [] synonym: "congenital absence of vas deferens" EXACT [] synonym: "Congenital Aplasia of Vas Deferens" EXACT [] synonym: "congenital bilateral absence of the vas deferens" EXACT [] synonym: "congenital bilateral agenesis of vas deferens" EXACT [] synonym: "congenital bilateral aplasia of the vas deferens" EXACT [] synonym: "congenital bilateral aplasia of vas deferens" EXACT [] xref: MESH:C535984 xref: MIM:PS277180 xref: NCI:C129303 xref: ORDO:48 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2019-09-10T09:58:44Z [Term] id: DOID:0111863 name: X-linked congenital bilateral absence of vas deferens def: "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. (DO)" [PMID:27476656 "DO"] synonym: "ADGRG2-RELATED CONDITION" EXACT [] synonym: "CBAVDX" EXACT [] synonym: "congenital bilateral aplasia of vas deferens, X-linked" EXACT [] xref: MIM:300985 xref: MONDO:0010511 is_a: DOID:0111862 ! congenital bilateral absence of vas deferens [Term] id: DOID:0111864 name: autosomal recessive congenital bilateral absence of vas deferens def: "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. (DO)" [PMID:7529962 "DO"] synonym: "congenital bilateral aplasia of vas deferens from CFTR mutation" EXACT [] xref: MIM:277180 xref: MONDO:0010178 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111862 ! congenital bilateral absence of vas deferens created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0111865 name: MEND syndrome def: "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. (DO)" [PMID:22229330 "DO", PMID:24700572 "DO"] synonym: "EBP-RELATED CONDITION" EXACT [] synonym: "male EBP disorder with neurological defects" EXACT [] synonym: "male EBP disorder with neurologic defects" EXACT [] synonym: "MEND" EXACT [] xref: MIM:300960 xref: ORDO:401973 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder created_by: gthayman creation_date: 2019-04-10T00:00:00Z [Term] id: DOID:0111866 name: trichothiodystrophy def: "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", PMID:18603627 "DO"] synonym: "IBIDS syndrome" NARROW [] synonym: "ichthyosiform erythroderma with hair abnormality and mental and growth retardation" EXACT [] synonym: "Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature" NARROW [] synonym: "PIBIDS Syndrome" EXACT [] synonym: "Pollitt syndrome" EXACT [] synonym: "Trichothiodystrophies" EXACT [] synonym: "trichothiodystrophy syndrome" EXACT [] synonym: "trichothiodystrophy syndromes" EXACT [] synonym: "trichothiodystrophy with congenital ichtyosis" EXACT [] synonym: "TTD" EXACT [] xref: MESH:D054463 xref: MIM:PS601675 xref: MONDO:0018053 xref: ORDO:33364 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111867 name: nonphotosensitive trichothiodystrophy def: "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", PMID:18603627 "DO"] synonym: "ABHS" EXACT [] synonym: "Amish Brittle Hair Brain Syndrome" EXACT [] synonym: "Amish Brittle Hair Syndrome" EXACT [] synonym: "BIDS" EXACT [] synonym: "BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME" EXACT [] synonym: "BIDS Syndrome" EXACT [] synonym: "BIDS Syndromes" EXACT [] synonym: "BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME" EXACT [] synonym: "Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome" EXACT [] synonym: "hair-brain syndrome" EXACT [] is_a: DOID:0111866 ! trichothiodystrophy [Term] id: DOID:0111868 name: nonphotosensitive trichothiodystrophy 5 def: "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (DO)" [PMID:25612912 "DO", PMID:31880405 "DO"] synonym: "RNF113A-RELATED CONDITION" EXACT [] synonym: "TTD5" EXACT [] xref: MIM:300953 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111869 name: photosensitive trichothiodystrophy 2 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. (DO)" [PMID:9012405 "DO"] synonym: "ERCC3-RELATED CONDITION" BROAD [] synonym: "TTD2" EXACT [] xref: MIM:616390 xref: MONDO:0014615 xref: NCI:C173103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111870 name: nonphotosensitive trichothiodystrophy 7 def: "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. (DO)" [PMID:31374204 "DO"] synonym: "TARS1-RELATED CONDITION" EXACT [] synonym: "TTD7" EXACT [] xref: MIM:618546 xref: NCI:C173102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111871 name: photosensitive trichothiodystrophy 3 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. (DO)" [PMID:15220921 "DO"] synonym: "trichothiodystrophy, complementation group A" EXACT [] synonym: "TTD3" EXACT [] synonym: "TTDA" EXACT [] xref: MIM:616395 xref: NCI:C173099 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111872 name: nonphotosensitive trichothiodystrophy 6 def: "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. (DO)" [PMID:26996949 "DO"] synonym: "GTF2E2-related condition" BROAD [] synonym: "trichothiodystrophy-6" EXACT [] synonym: "TTD6" EXACT [] xref: MIM:616943 xref: MONDO:0014841 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111873 name: photosensitive trichothiodystrophy 1 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. (DO)" [PMID:9195225 "DO"] synonym: "ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION" EXACT [] synonym: "trichothiodystrophy type 1" EXACT [] synonym: "TTD1" EXACT [] synonym: "TTDP" EXACT [] xref: MESH:C564734 xref: MIM:601675 xref: MONDO:0011125 xref: NCI:C156433 is_a: DOID:0050427 ! xeroderma pigmentosum is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2960 ! photosensitive trichothiodystrophy is_a: DOID:4123 ! nail disease is_a: DOID:421 ! hair disease is_a: DOID:9005622 ! Congenital Ichthyosis with Trichothiodystrophy [Term] id: DOID:0111874 name: Sabinas brittle hair syndrome def: "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. (DO)" [PMID:7325159 "DO"] synonym: "brittle hair and mental deficit" EXACT [] synonym: "brittle hair-mental deficiency syndrome" EXACT [] synonym: "Sabinas syndrome" EXACT [] synonym: "trichothiodystrophy type B" EXACT [] xref: MESH:C536320 xref: MIM:211390 xref: MONDO:0008886 xref: ORDO:3123 is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111875 name: MLS syndrome def: "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK7041/ "DO", PMID:20301767 "DO"] synonym: "linear skin defects with multiple congenital anomalies" EXACT [] synonym: "microphthalmia with linear skin defects" EXACT [] synonym: "microphthalmia with linear skin defects syndrome" EXACT [] synonym: "MLS" EXACT [] xref: MIM:PS309801 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111876 name: linear skin defects with multiple congenital anomalies 3 def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)" [PMID:25772934 "DO"] synonym: "linear skin defects with cardiomyopathy and other congenital anomalies" EXACT [] synonym: "LSDMCA3" EXACT [] synonym: "NDUFB11-RELATED DISORDERS" BROAD [] xref: MIM:300952 xref: MONDO:0010494 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111877 name: linear skin defects with multiple congenital anomalies 2 def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. (DO)" [PMID:23122588 "DO", PMID:9747372 "DO"] synonym: "APLCC" EXACT [] synonym: "COX7B-RELATED CONDITION" EXACT [] synonym: "LSDMCA2" EXACT [] synonym: "reticulolinear aplasia cutis congenita with microcephaly, facial dysmorphism, and other congenital anomalies" EXACT [] xref: MIM:300887 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111875 ! MLS syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111878 name: Diamond-Blackfan anemia 7 alt_id: MIM:612562 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. (DO)" [PMID:19061985 "DO"] synonym: "DBA7" EXACT [] synonym: "RPL11-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567254 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2019-06-25T13:20:08Z [Term] id: DOID:0111879 name: Diamond-Blackfan anemia 6 alt_id: MIM:612561 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. (DO)" [PMID:19061985 "DO"] synonym: "Aase Smith Syndrome 2" EXACT [] synonym: "Aase-Smith syndrome II" EXACT [] synonym: "anemia and triphalangeal thumbs" EXACT [] synonym: "congenital anemia and triphalangeal thumbs" EXACT [] synonym: "DBA6" EXACT [] synonym: "hypoplastic anemia-triphalangeal thumbs, Aase-Smith type" EXACT [] synonym: "RPL5-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C538442 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111880 name: Diamond-Blackfan anemia 17 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. (DO)" [PMID:25424902 "DO"] synonym: "DBA17" EXACT [] synonym: "RPS27-RELATED CONDITION" EXACT [] synonym: "RPS27-related Diamond-Blackfan anemia" EXACT [] xref: MIM:617409 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111881 name: Diamond-Blackfan anemia 8 alt_id: MIM:612563 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. (DO)" [PMID:19061985 "DO"] synonym: "DBA8" EXACT [] synonym: "RPS7-RELATED CONDITION" EXACT [] synonym: "RPS7-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567253 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: slaulede creation_date: 2018-09-11T15:16:36Z [Term] id: DOID:0111882 name: Diamond-Blackfan anemia 12 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. (DO)" [PMID:23812780 "DO"] synonym: "DBA12" EXACT [] synonym: "RPL15-RELATED CONDITION" EXACT [] synonym: "RPL15-related Diamond-Blackfan anemia" EXACT [] xref: MIM:615550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2019-10-28T10:44:39Z [Term] id: DOID:0111883 name: Diamond-Blackfan anemia 5 alt_id: MIM:612528 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. (DO)" [PMID:18535205 "DO"] synonym: "DBA5" EXACT [] synonym: "RPL35A-RELATED CONDITION" EXACT [] synonym: "RPL35A-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567280 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: slaulede creation_date: 2018-04-26T10:14:05Z [Term] id: DOID:0111884 name: Diamond-Blackfan anemia 9 alt_id: MIM:613308 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. (DO)" [PMID:20116044 "DO"] synonym: "DBA9" EXACT [] synonym: "RPS10-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111885 name: Diamond-Blackfan anemia 2 alt_id: MIM:606129 def: "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. (DO)" [PMID:11264183 "DO"] synonym: "DBA2" EXACT [] xref: MESH:C536130 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111886 name: Diamond-Blackfan anemia 19 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. (DO)" [PMID:28280134 "DO"] synonym: "DBA19" EXACT [] synonym: "RPL35-RELATED CONDITION" EXACT [] synonym: "RPL35-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618312 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111887 name: Diamond-Blackfan anemia 3 alt_id: MIM:610629 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. (DO)" [PMID:17186470 "DO"] synonym: "DBA3" EXACT [] synonym: "RPS24-RELATED CONDITION" EXACT [] synonym: "RPS24-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C536355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2019-06-25T13:47:13Z [Term] id: DOID:0111888 name: Diamond-Blackfan anemia 10 alt_id: MIM:613309 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. (DO)" [PMID:20116044 "DO"] synonym: "DBA10" EXACT [] synonym: "RPS26-RELATED CONDITION" EXACT [] synonym: "RPS26-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567649 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111889 name: Diamond-Blackfan anemia 13 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)" [PMID:24829207 "DO"] synonym: "DBA13" EXACT [] synonym: "RPS29-RELATED CONDITION" EXACT [] synonym: "RPS29-related Diamond-Blackfan anemia" EXACT [] xref: MIM:615909 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111890 name: Diamond-Blackfan anemia 4 alt_id: MIM:612527 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. (DO)" [PMID:17647292 "DO"] synonym: "DBA4" EXACT [] synonym: "RPS17-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567281 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111891 name: Diamond-Blackfan anemia 20 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. (DO)" [PMID:27909223 "DO"] synonym: "DBA20" EXACT [] synonym: "RPS15A-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618313 xref: MONDO:0032670 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111892 name: Diamond-Blackfan anemia 11 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. (DO)" [PMID:22431104 "DO"] synonym: "DBA11" EXACT [] synonym: "RPL26-related Diamond-Blackfan anemia" EXACT [] xref: MIM:614900 xref: MONDO:0013964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111893 name: Diamond-Blackfan anemia 16 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. (DO)" [PMID:25424902 "DO"] synonym: "DBA16" EXACT [] synonym: "RPL27-RELATED CONDITION" EXACT [] synonym: "RPL27-related Diamond-Blackfan anemia" EXACT [] xref: MIM:617408 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2020-03-06T11:21:22Z [Term] id: DOID:0111894 name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. (DO)" [PMID:24942156 "DO"] synonym: "DBA15" EXACT [] synonym: "RPS28-RELATED CONDITION" EXACT [] xref: MIM:606164 xref: MONDO:0011639 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0111895 name: Diamond-Blackfan anemia 1 alt_id: MIM:105650 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. (DO)" [PMID:9988267 "DO"] synonym: "DBA1" EXACT [] synonym: "RPS19-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567302 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: rgd creation_date: 2016-03-11T00:00:00Z [Term] id: DOID:0111896 name: Diamond-Blackfan anemia 18 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. (DO)" [PMID:28280134 "DO"] synonym: "DBA18" EXACT [] synonym: "RPL18-RELATED CONDITION" EXACT [] synonym: "RPL18-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111897 name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. (DO)" [PMID:11424144 "DO", PMID:24942156 "DO"] synonym: "DBA14" EXACT [] synonym: "TSR2-RELATED CONDITION" EXACT [] xref: MIM:300946 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1339 ! Diamond-Blackfan anemia is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0111898 name: CK syndrome alt_id: DOID:9002836 def: "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. (DO)" [PMID:19377476 "DO", PMID:21129721 "DO"] synonym: "NSDHL-related condition" BROAD [] synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [] synonym: "X-linked mental retardation with thin body habitus and cortical malformation" EXACT [] xref: MIM:300831 xref: MONDO:0010441 xref: ORDO:251383 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9005768 ! Thinness is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0111899 name: X-linked thrombophilia due to factor IX defect def: "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. (DO)" [PMID:19846852 "DO"] synonym: "protection against deep venous thrombosis" NARROW [] synonym: "THPH8" EXACT [] synonym: "THROMBOPHILIA, X-LINKED, DUE TO FACTOR 9 DEFECT" EXACT [] xref: MESH:C567581 xref: MIM:300807 xref: MONDO:0010432 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111900 name: autosomal dominant thrombophilia due to protein S deficiency alt_id: MIM:612336 def: "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)" [PMID:6239102 "DO", PMID:7545463 "DO", PMID:7780139 "DO"] synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY" BROAD [] synonym: "hereditary thrombophilia due to protein S deficiency, autosomal dominant" EXACT [] synonym: "PROS1-RELATED CONDITION" BROAD [] synonym: "REDUCED PROTEIN S ACTIVITY" BROAD [] synonym: "THPH5" EXACT [] xref: MESH:C567347 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2451 ! protein S deficiency [Term] id: DOID:0111901 name: heparin cofactor II deficiency def: "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. (DO)" [PMID:2647747 "DO", PMID:8562924 "DO"] synonym: "HCF 2 deficiency" EXACT [] synonym: "HCF2 deficiency" EXACT [] synonym: "HCF II deficiency" EXACT [] synonym: "SERPIND1-RELATED CONDITION" EXACT [] synonym: "susceptibility to thrombophilia due to heparin cofactor II deficiency" EXACT [] synonym: "THPH10" EXACT [] synonym: "thrombophilia due to heparin cofactor II deficiency" EXACT [] synonym: "THROMBOTIC STROKE" BROAD [] xref: MESH:C562865 xref: MIM:612356 xref: MONDO:0012876 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060903 ! thrombosis is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111902 name: thrombophilia due to activated protein C resistance alt_id: MESH:C566056 alt_id: MIM:188055 def: "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. (DO)" [https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia "DO", PMID:8164741 "DO", PMID:8430067 "DO", PMID:9454742 "DO"] synonym: "activated protein C resistance" EXACT [] synonym: "APC resistance" EXACT [] synonym: "Apc Resistance, Leiden Type" EXACT [] synonym: "Factor V Leiden Thrombophilia" EXACT [] synonym: "Hereditary Resistance To Activated Protein C" EXACT [] synonym: "PCCF DEFICIENCY" EXACT [] synonym: "PROC COFACTOR DEFICIENCY" EXACT [] synonym: "Protein C Cofactor Deficiency" EXACT [] synonym: "THPH2" EXACT [] synonym: "Thrombophilia due to Deficiency of Activated Protein C Cofactor" EXACT [] synonym: "thrombophilia due to factor V Leiden" EXACT [] synonym: "thrombophilia V" EXACT [] xref: MESH:D020016 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:0111903 name: thrombophilia due to HRG deficiency alt_id: MIM:613116 def: "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. (DO)" [PMID:8236132 "DO", PMID:9414276 "DO"] synonym: "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" EXACT [] synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [] synonym: "HRG-RELATED CONDITION" EXACT [] synonym: "THPH11" EXACT [] synonym: "thrombophilia due to elevated histidine-rich glycoprotein" EXACT [] synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" EXACT [] xref: MESH:C567737 xref: ORDO:217467 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111904 name: autosomal recessive thrombophilia due to protein C deficiency alt_id: MIM:612304 def: "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)" [PMID:10942114 "DO", PMID:6139528 "DO"] synonym: "Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive" EXACT [] synonym: "PROC deficiency, autosomal recessive" EXACT [] synonym: "PROC-RELATED DISORDER" BROAD [] synonym: "protein C deficiency, autosomal recessive" EXACT [] synonym: "THPH4" EXACT [] xref: MESH:C567353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006363 ! Congenital Thrombotic Disease, due to Protein C Deficiency [Term] id: DOID:0111905 name: autosomal recessive thrombophilia due to protein S deficiency def: "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)" [PMID:10063989 "DO", PMID:20484936 "DO"] synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY" BROAD [] synonym: "Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive" EXACT [] synonym: "PROS1-related condition" BROAD [] synonym: "reduced protein S activity" BROAD [] synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "THPH6" EXACT [] xref: MESH:C567348 xref: MIM:614514 xref: MONDO:0013791 xref: ORDO:743 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2451 ! protein S deficiency created_by: mtutaj creation_date: 2019-02-13T13:10:28Z [Term] id: DOID:0111906 name: thrombophilia due to decreased release of PLAT alt_id: MIM:612348 def: "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. (DO)" [PMID:12643326 "DO", PMID:665314 "DO"] synonym: "ACTIVATOR" NARROW [] synonym: "familial hyperfibrinolysis due to increased release of tissue plasminogen activator" EXACT [] synonym: "Familial Thrombophilia due to Decreased Release of Tissue Plasminogen Activator" EXACT [] synonym: "THPH9" EXACT [] synonym: "THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN" EXACT [] xref: MESH:C567341 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111907 name: thrombophilia due to thrombin defect def: "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. (DO)" [PMID:11570053 "DO", PMID:22716977 "DO"] synonym: "HABP2-RELATED CONDITION" BROAD [] synonym: "prothrombin-related thrombophilia" EXACT [] synonym: "THPH1" EXACT [] synonym: "THROMBOPHILIA DUE TO FACTOR 2 DEFECT" EXACT [] xref: GARD:10815 xref: MIM:188050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia created_by: slaulede creation_date: 2018-09-11T14:11:44Z [Term] id: DOID:0111908 name: thrombophilia due to thrombomodulin defect alt_id: MIM:614486 def: "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. (DO)" [PMID:22036808 "DO"] synonym: "THBD-related bleeding disorder" EXACT [] synonym: "THBD-related coagulopathy" EXACT [] synonym: "THBD-RELATED CONDITION" BROAD [] synonym: "THPH12" EXACT [] synonym: "thrombomodulin-related bleeding disorder" EXACT [] synonym: "thrombomodulin-related coagulopathy" EXACT [] xref: MESH:C566057 xref: ORDO:436169 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2452 ! thrombophilia created_by: mtutaj creation_date: 2019-03-21T13:56:44Z [Term] id: DOID:0111909 name: autosomal dominant thrombophilia due to protein C deficiency alt_id: MIM:176860 def: "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)" [PMID:10942114 "DO", PMID:2437584 "DO", PMID:6547008 "DO"] synonym: "Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant" EXACT [] synonym: "PROC Deficiency, Autosomal Dominant" EXACT [] synonym: "PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED" RELATED [] synonym: "PROC-RELATED DISORDER" BROAD [] synonym: "protein C deficiency, autosomal dominant" EXACT [] synonym: "THPH3" EXACT [] xref: MESH:C567163 is_a: DOID:9006363 ! Congenital Thrombotic Disease, due to Protein C Deficiency [Term] id: DOID:0111910 name: spermatogenic failure def: "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. (DO)" [PMID:30656449 "DO"] synonym: "SPGF" EXACT [] xref: EFO:0000279 xref: MIM:PS258150 is_a: DOID:12336 ! male infertility created_by: rgd creation_date: 2020-07-23T00:00:00Z [Term] id: DOID:0111911 name: spermatogenic failure 34 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. (DO)" [PMID:30137358 "DO"] synonym: "FSIP2-related condition" BROAD [] synonym: "SPGF34" EXACT [] xref: MIM:618153 xref: MONDO:0029148 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0111912 name: spermatogenic failure 41 def: "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. (DO)" [PMID:31621862 "DO"] synonym: "SPGF41" EXACT [] xref: MIM:618670 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111913 name: spermatogenic failure 30 def: "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. (DO)" [PMID:28536242 "DO"] synonym: "SPGF30" EXACT [] synonym: "TDRD9-RELATED CONDITION" EXACT [] xref: MIM:618110 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111914 name: spermatogenic failure 35 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. (DO)" [PMID:30683861 "DO"] synonym: "QRICH2-RELATED CONDITION" EXACT [] synonym: "SPGF35" EXACT [] xref: MIM:618341 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111915 name: spermatogenic failure 33 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. (DO)" [PMID:30122540 "DO"] synonym: "CFAP251-RELATED CONDITION" EXACT [] synonym: "SPGF33" EXACT [] xref: MIM:618152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111916 name: spermatogenic failure 28 def: "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. (DO)" [PMID:30075111 "DO"] synonym: "FANCM-RELATED CONDITION" BROAD [] synonym: "SPGF28" EXACT [] xref: MIM:618086 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-03-15T14:05:31Z [Term] id: DOID:0111917 name: spermatogenic failure 43 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. (DO)" [PMID:31048344 "DO", PMID:31151990 "DO"] synonym: "SPEF2-RELATED CONDITION" EXACT [] synonym: "SPGF43" EXACT [] xref: MIM:618751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111918 name: spermatogenic failure 40 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. (DO)" [PMID:31413122 "DO"] synonym: "CFAP65-RELATED CONDITION" EXACT [] synonym: "SPGF40" EXACT [] xref: MIM:618664 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111919 name: spermatogenic failure 38 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. (DO)" [PMID:30686508 "DO"] synonym: "ARMC2-RELATED DISORDER" EXACT [] synonym: "MALE INFERTILITY WITH TERATOZOOSPERMIA DUE TO SINGLE GENE MUTATION" BROAD [] synonym: "SPERM TAIL ANOMALY" BROAD [] synonym: "SPGF38" EXACT [] xref: MIM:618433 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111920 name: spermatogenic failure 25 def: "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. (DO)" [PMID:26199321 "DO"] synonym: "SPGF25" EXACT [] synonym: "TEX15-related condition" BROAD [] xref: MIM:617960 xref: MONDO:0054729 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: slaulede creation_date: 2019-03-19T15:24:54Z [Term] id: DOID:0111921 name: spermatogenic failure 36 def: "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. (DO)" [PMID:30893644 "DO"] synonym: "SPGF36" EXACT [] xref: MIM:618420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111922 name: spermatogenic failure 31 def: "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. (DO)" [PMID:30032984 "DO"] synonym: "PMFBP1-related condition" BROAD [] synonym: "SPGF31" EXACT [] xref: MIM:618112 xref: MONDO:0020852 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa created_by: rgd creation_date: 2017-03-28T00:00:00Z [Term] id: DOID:0111923 name: spermatogenic failure 42 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. (DO)" [PMID:31735292 "DO", PMID:31735294 "DO"] synonym: "SPGF42" EXACT [] xref: MIM:618745 xref: MONDO:0032896 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-09-03T14:40:00Z [Term] id: DOID:0111924 name: spermatogenic failure 26 def: "A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. (DO)" [PMID:28905369 "DO"] synonym: "SPGF26" EXACT [] synonym: "TSGA10-RELATED CONDITION" EXACT [] xref: MIM:617961 xref: MONDO:0054730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0111925 name: spermatogenic failure 32 def: "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. (DO)" [PMID:20506135 "DO"] synonym: "SOHLH1-RELATED DISORDER" BROAD [] synonym: "SPGF32" EXACT [] xref: MIM:618115 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111926 name: spermatogenic failure 39 def: "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. (DO)" [PMID:31178125 "DO"] synonym: "DNAH17-RELATED CONDITION" EXACT [] synonym: "SPGF39" EXACT [] xref: MIM:618643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111927 name: spermatogenic failure 37 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. (DO)" [PMID:30929735 "DO"] synonym: "SPGF37" EXACT [] synonym: "TTC21A-related condition" BROAD [] xref: MIM:618429 xref: MONDO:0032744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111928 name: spermatogenic failure 27 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. (DO)" [PMID:29365104 "DO"] synonym: "AK7-RELATED CONDITION" EXACT [] synonym: "SPGF27" EXACT [] xref: MIM:617965 xref: MONDO:0054731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: rgd creation_date: 2016-04-13T17:29:34Z [Term] id: DOID:0111929 name: spermatogenic failure 24 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. (DO)" [PMID:29606301 "DO"] synonym: "CFAP69-RELATED CONDITION" EXACT [] synonym: "SPGF24" EXACT [] xref: MIM:617959 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111930 name: spermatogenic failure 29 def: "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. (DO)" [PMID:28554943 "DO"] synonym: "SPGF29" EXACT [] xref: MIM:618091 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: slaulede creation_date: 2018-09-14T00:00:00Z [Term] id: DOID:0111931 name: syndactyly-telecanthus-anogenital and renal malformations syndrome alt_id: MIM:300707 def: "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. (DO)" [PMID:18297069 "DO", PMID:8818947 "DO"] synonym: "STAR" EXACT [] synonym: "STAR Syndrome" EXACT [] synonym: "Syndactyly with Renal and Anogenital Malformations" EXACT [] synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" EXACT [] xref: GARD:10295 xref: MESH:C567475 xref: ORDO:140952 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9003133 ! Hypertelorism created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111932 name: severe congenital encephalopathy due to MECP2 mutation alt_id: MIM:300673 def: "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy "DO", PMID:12615169 "DO"] synonym: "MECP2-related severe neonatal encephalopathy" EXACT [] synonym: "neonatal severe encephalopathy" EXACT [] synonym: "neonatal severe encephalopathy due to MECP2 mutation" EXACT [] synonym: "neonatal severe encephalopathy due to MECP2 mutations" EXACT [] synonym: "severe neonatal-onset encephalopathy with microcephaly" EXACT [] xref: MESH:C566878 xref: NCI:C132293 xref: ORDO:209370 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders created_by: rgd creation_date: 2017-04-04T00:00:00Z [Term] id: DOID:0111933 name: phosphoglycerate kinase 1 deficiency def: "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. (DO)" [https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency "DO", PMID:16567715 "DO", PMID:4230542 "DO"] synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "PGK1 deficiency" EXACT [] synonym: "PGK1-related condition" BROAD [] synonym: "PGK1-related disorder" BROAD [] synonym: "PGK deficiency" EXACT [] synonym: "phosphoglycerate kinase 1 deficiency with levo-dopa-responsive parkinsonism" EXACT [] synonym: "phosphoglycerate kinase deficiency" EXACT [] xref: GARD:7389 xref: MESH:C567067 xref: MIM:300653 xref: MONDO:0010392 xref: NCI:C126738 xref: ORDO:713 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4194 ! glucose metabolism disease created_by: gthayman creation_date: 2019-05-29T11:57:07Z [Term] id: DOID:0111934 name: immunodeficiency 38 def: "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. (DO)" [PMID:22859821 "DO", PMID:25307056 "DO"] synonym: "autosomal recessive ISG15 deficiency" EXACT [] synonym: "IMD38" EXACT [] synonym: "immunodeficiency 38, mycobacteriosis, autosomal recessive" EXACT [] synonym: "immunodeficiency 38 with basal ganglia calcification" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" EXACT [] xref: MIM:616126 xref: MONDO:0014502 xref: ORDO:319563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111935 name: immunodeficiency 16 def: "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. (DO)" [PMID:20156905 "DO", PMID:23897980 "DO"] synonym: "combined immunodeficiency due to OX40 deficiency" EXACT [] synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [] synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [] synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [] synonym: "IMD16" EXACT [] synonym: "OX40 deficiency" EXACT [] xref: MIM:615593 xref: MONDO:0014268 xref: ORDO:431149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111936 name: immunodeficiency 14 def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (DO)" [https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome "DO", PMID:24165795 "DO"] synonym: "activated PI3K-delta syndrome" EXACT [] synonym: "APDS" EXACT [] synonym: "APDS (Activated PI3K-delta Syndrome)" EXACT [] synonym: "APD Syndrome" EXACT [] synonym: "autosomal dominant immunodeficiency 14A" NARROW [] synonym: "autosomal dominant immunodeficiency-14A with lymphoproliferation" NARROW [] synonym: "autosomal recessive immunodeficiency 14B" NARROW [] synonym: "IMD14" EXACT [] synonym: "IMD14A" NARROW [] synonym: "IMD14B" NARROW [] synonym: "p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" EXACT [] synonym: "PASLI" EXACT [] synonym: "PASLI disease" EXACT [] synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [] xref: GARD:11983 xref: MESH:C585640 xref: MIM:615513 xref: MIM:619281 xref: MONDO:0014222 xref: NCI:C187988 xref: ORDO:397596 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111937 name: immunodeficiency 22 def: "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. (DO)" [PMID:9664084 "DO"] synonym: "IMD22" EXACT [] synonym: "SCID due to LCK deficiency" EXACT [] synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [] synonym: "severe combined immunodeficiency due to LCK deficiency" EXACT [] synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [] xref: MIM:615758 xref: MONDO:0014334 xref: NCI:C176808 xref: ORDO:280142 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111938 name: immunodeficiency 24 def: "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. (DO)" [PMID:24870241 "DO"] synonym: "IMD24" EXACT [] synonym: "SCID due to CTPS1 deficiency" EXACT [] synonym: "severe combined immunodeficiency due to CTPS1 deficiency" EXACT [] xref: MIM:615897 xref: ORDO:420573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111939 name: immunodeficiency 37 def: "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. (DO)" [PMID:25365219 "DO"] synonym: "IMD37" EXACT [] xref: MIM:616098 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111940 name: immunodeficiency 42 def: "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. (DO)" [PMID:26160376 "DO"] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" EXACT [] synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [] synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [] synonym: "IMD42" EXACT [] xref: MIM:616622 xref: MONDO:0014710 xref: ORDO:477857 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111941 name: immunodeficiency 20 def: "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. (DO)" [PMID:23006327 "DO"] synonym: "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" EXACT [] synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [] synonym: "CD16 deficiency" EXACT [] synonym: "IMD20" EXACT [] xref: MIM:615707 xref: MONDO:0014313 xref: ORDO:437552 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111942 name: immunodeficiency 25 alt_id: MIM:610163 def: "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. (DO)" [PMID:16672702 "DO"] synonym: "CD247-RELATED DISORDER" EXACT [] synonym: "IMD25" EXACT [] synonym: "immunodeficiency due to defect in CD3-zeta" EXACT [] xref: MESH:C565712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111943 name: immunodeficiency 48 alt_id: MIM:269840 def: "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. (DO)" [PMID:2511270 "DO"] synonym: "combined immunodeficiency due to ZAP70 deficiency" EXACT [] synonym: "IMD48" EXACT [] synonym: "selective T-cell defect" EXACT [] synonym: "STCD" EXACT [] synonym: "ZAP70-RELATED CONDITION" BROAD [] synonym: "ZAP70-related SCID" EXACT [] synonym: "ZAP70-related severe combined immunodeficiency" EXACT [] synonym: "zeta-associated-protein 70 deficiency" EXACT [] xref: GARD:387 xref: MESH:C536722 xref: ORDO:911 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2019-02-27T08:16:15Z [Term] id: DOID:0111944 name: immunodeficiency 31B def: "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [PMID:12590259 "DO", PMID:19084105 "DO"] synonym: "IMD31B" EXACT [] synonym: "IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE" EXACT [] synonym: "MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE" RELATED [] synonym: "predisposition to severe viral infection due to STAT1 deficiency" EXACT [] synonym: "STAT1 deficiency, autosomal recessive" EXACT [] synonym: "susceptibility to viral and mycobacterial infections due to STAT1 deficiency" EXACT [] xref: MIM:613796 xref: ORDO:391311 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001415 ! Mycobacterium Infections is_a: DOID:934 ! viral infectious disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111945 name: immunodeficiency 31A def: "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [PMID:11452125 "DO", PMID:19084105 "DO"] synonym: "IMD31A" EXACT [] synonym: "IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" EXACT [] synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [] synonym: "MSMD due to partial STAT1 deficiency" EXACT [] synonym: "STAT1 deficiency, autosomal dominant" EXACT [] xref: MIM:614892 xref: ORDO:319595 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111946 name: immunodeficiency 31C def: "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [PMID:21714643 "DO", PMID:23534974 "DO", PMID:23541320 "DO"] synonym: "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" EXACT [] synonym: "autosomal dominant immunodeficiency 31C" EXACT [] synonym: "CANDF7" EXACT [] synonym: "familial candidiasis 7" EXACT [] synonym: "familial chronic mucocutaneous candidiasis, autosomal dominant" BROAD [] synonym: "IMD31C" EXACT [] xref: MIM:614162 xref: NCI:C172099 xref: ORDO:391487 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2058 ! chronic mucocutaneous candidiasis is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111947 name: immunodeficiency 21 alt_id: MIM:614172 def: "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. (DO)" [PMID:21242295 "DO", PMID:21670465 "DO", PMID:24227816 "DO"] synonym: "COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS" EXACT [] synonym: "DCML" EXACT [] synonym: "dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [] synonym: "DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY" EXACT [] synonym: "GATA2 deficiency" EXACT [] synonym: "IMD21" EXACT [] synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [] synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [] synonym: "monocytopenia with susceptibility to infections" EXACT [] synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" EXACT [] synonym: "MONOMAC" EXACT [] synonym: "monomac monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" EXACT [] xref: GARD:10934 xref: MESH:D000077428 xref: NCI:C126349 xref: ORDO:228423 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111948 name: immunodeficiency 46 def: "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. (DO)" [PMID:26642240 "DO"] synonym: "CID due to TFRC deficiency" EXACT [] synonym: "combined immunodeficiency due to TFRC deficiency" EXACT [] synonym: "IMD46" EXACT [] synonym: "TFRC-related combined immunodeficiency" EXACT [] synonym: "TFRC-RELATED CONDITION" EXACT [] xref: MIM:616740 xref: ORDO:476113 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111949 name: immunodeficiency 36 def: "A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [PMID:39714594 "DO"] synonym: "activated phosphoinositide 3-kinase delta syndrome 2" EXACT [] synonym: "activated PI3K-delta syndrome 2" EXACT [] synonym: "APDS2" EXACT [] synonym: "IMD36" EXACT [] synonym: "immunodeficiency-36 with lymphoproliferation" EXACT [] xref: MIM:616005 xref: MONDO:0014453 xref: NCI:C176703 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2018-01-17T14:46:50Z [Term] id: DOID:0111950 name: immunodeficiency 29 def: "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. (DO)" [PMID:19084105 "DO", PMID:9854038 "DO"] synonym: "IL12B deficiency" EXACT [] synonym: "IMD29" EXACT [] synonym: "immunodeficiency 29, mycobacteriosis" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [] synonym: "MSMD due to complete IL12B deficiency" EXACT [] synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [] xref: MIM:614890 xref: MONDO:0013954 xref: ORDO:319558 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111951 name: immunodeficiency 40 def: "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. (DO)" [PMID:26083206 "DO"] synonym: "DOCK2 deficiency" EXACT [] synonym: "IMD40" EXACT [] xref: GARD:12653 xref: MIM:616433 xref: MONDO:0014637 xref: NCI:C176799 xref: ORDO:447737 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111952 name: immunodeficiency 57 def: "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. (DO)" [PMID:30026316 "DO"] synonym: "IMD57" EXACT [] synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" EXACT [] synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" EXACT [] synonym: "immunodeficiency 57 with autoinflammation" EXACT [] synonym: "RIPK1-RELATED CONDITION" BROAD [] xref: MIM:618108 xref: ORDO:529977 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111953 name: immunodeficiency 23 def: "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (DO)" [PMID:14981714 "DO", PMID:24589341 "DO"] synonym: "CID due to PGM3 deficiency" EXACT [] synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [] synonym: "IMD23" EXACT [] synonym: "Immunodeficiency-Vasculitis-Myoclonus Syndrome" EXACT [] synonym: "immunodeficiency with hyper IgE and cognitive impairment" EXACT [] synonym: "IVMS" EXACT [] synonym: "PGM3-CDG" EXACT [] synonym: "PGM3-related congenital disorder of glycosylation" EXACT [] xref: GARD:4331 xref: MIM:615816 xref: NCI:C126339 xref: ORDO:443811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: slaulede creation_date: 2018-08-17T13:59:10Z [Term] id: DOID:0111954 name: immunodeficiency 60 def: "A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. (DO)" [PMID:28530713 "DO"] synonym: "BACH2-RELATED CONDITION" NARROW [] synonym: "BRIDA" EXACT [] synonym: "IMD60" EXACT [] synonym: "immunodeficiency 60 and autoimmunity" EXACT [] synonym: "immunodeficiency and autoimmunity, BACH2-related" EXACT [] xref: MIM:618394 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111955 name: immunodeficiency 27A def: "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)" [PMID:19084105 "DO", PMID:8960473 "DO", PMID:8960475 "DO"] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IMD27A" EXACT [] synonym: "immunodeficiency 27A, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:209950 xref: ORDO:319569 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111956 name: immunodeficiency 27B def: "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)" [PMID:10192386 "DO", PMID:19084105 "DO"] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT" EXACT [] synonym: "IMD27B" EXACT [] synonym: "immunodeficiency 27B, mycobacteriosis, autosomal dominant" EXACT [] xref: MIM:615978 xref: ORDO:319581 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111957 name: immunodeficiency 11A def: "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)" [PMID:23374270 "DO", PMID:23561803 "DO"] synonym: "CARD11 deficiency" EXACT [] synonym: "CARD11 Immunodeficiency" EXACT [] synonym: "IMD11" EXACT [] synonym: "IMD11A" EXACT [] synonym: "immunodeficiency 11" EXACT [] synonym: "SCID due to CARD11 deficiency" EXACT [] synonym: "severe combined immunodeficiency due to CARD11 deficiency" EXACT [] xref: MIM:615206 xref: MONDO:0014081 xref: ORDO:357237 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111958 name: immunodeficiency 11B def: "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)" [PMID:28628108 "DO"] synonym: "atopic dermatitis, elevated IgE, and eosinophilia" EXACT [] synonym: "IMD11B" EXACT [] synonym: "immunodeficiency 11B with atopic dermatitis" EXACT [] xref: MIM:617638 xref: MONDO:0054697 xref: NCI:C176630 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111959 name: immunodeficiency 15B def: "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. (DO)" [PMID:24369075 "DO"] synonym: "IKBKB-RELATED DISORDER" BROAD [] synonym: "IMD15B" EXACT [] xref: MIM:615592 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9008991 ! IMMUNODEFICIENCY 15 created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111960 name: immunodeficiency 15A def: "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. (DO)" [PMID:30337470 "DO"] synonym: "IKBKB-RELATED DISORDER" BROAD [] synonym: "IMD15A" EXACT [] xref: MIM:618204 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9008991 ! IMMUNODEFICIENCY 15 created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111961 name: immunodeficiency 26 def: "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. (DO)" [PMID:19075392 "DO", PMID:23722905 "DO"] synonym: "IMD26" EXACT [] synonym: "immunodeficiency 26 with or without neurologic abnormalities" EXACT [] synonym: "immunodeficiency 26 without neurologic abnormalities" NARROW [] synonym: "PRKDC-RELATED CONDITION" EXACT [] synonym: "SCID due to DNA-PKcs deficiency" EXACT [] synonym: "severe combined immunodeficiency due to DNA-PKcs deficiency" EXACT [] xref: MIM:615966 xref: NCI:C176795 xref: ORDO:317425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9003814 ! Neurologic Manifestations created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111962 name: combined immunodeficiency def: "A primary immunodeficiency disease that involves multiple components of the immune system. (DO)" [PMID:32048120 "DO"] synonym: "MAN2B2-RELATED DISORDER" NARROW [] is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111963 name: dendritic cell deficiency def: "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111964 name: B cell and dendritic cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111965 name: T cell, B cell, and NK cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111966 name: monocyte, dendritic cell, and NK cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111967 name: immunodeficiency 54 def: "A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. (DO)" [PMID:16532402 "DO", PMID:22354167 "DO"] synonym: "familial isolated natural killer cell deficiency" EXACT [] synonym: "IMD54" EXACT [] synonym: "MCM4-related condition" BROAD [] synonym: "natural killer cell and glucocorticoid deficiency with DNA repair defect" EXACT [] synonym: "NKCD" EXACT [] synonym: "NKGCD" EXACT [] synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [] synonym: "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" EXACT [] xref: MESH:C566492 xref: MIM:609981 xref: MONDO:0012383 xref: NCI:C123729 xref: ORDO:75391 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080709 ! NK cell deficiency is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111968 name: immunodeficiency 41 def: "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. (DO)" [PMID:23416241 "DO", PMID:9096364 "DO"] synonym: "CD25 Deficiency" EXACT [] synonym: "deficiency of interleukin 2 receptor, alpha" EXACT [] synonym: "IL2RA Deficiency" EXACT [] synonym: "IL2RA-RELATED DISORDER" BROAD [] synonym: "IMD41" EXACT [] synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" EXACT [] synonym: "immunodeficiency due to CD25 deficiency" EXACT [] synonym: "interleukin-2 receptor alpha chain deficiency" EXACT [] xref: MESH:C565232 xref: MIM:606367 xref: MONDO:0011664 xref: ORDO:169100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111969 name: immunodeficiency 39 def: "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. (DO)" [PMID:25814066 "DO"] synonym: "IMD39" EXACT [] synonym: "IRF7-RELATED CONDITION" EXACT [] xref: MIM:616345 xref: MONDO:0014597 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111970 name: immunodeficiency 10 alt_id: MIM:612783 def: "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. (DO)" [PMID:26560041 "DO"] synonym: "CID due to STIM1 deficiency" EXACT [] synonym: "combined immunodeficiency due to STIM1 deficiency" EXACT [] synonym: "IMD10" EXACT [] synonym: "Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2" EXACT [] synonym: "STIM1 deficiency" EXACT [] xref: MESH:C557827 xref: ORDO:317430 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111971 name: immunodeficiency 18 alt_id: MIM:615615 def: "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (DO)" [PMID:15546002 "DO", PMID:8490660 "DO"] synonym: "CD3-epsilon deficiency" EXACT [] synonym: "IMD18" EXACT [] synonym: "immunodeficiency 18, SCID variant" RELATED [] synonym: "immunodeficiency 18, severe combined" RELATED [] synonym: "immunodeficiency due to defect in CD3-Epsilon" EXACT [] synonym: "immunodeficiency variant" RELATED [] xref: MESH:C566082 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111972 name: immunodeficiency 19 def: "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (DO)" [PMID:14602880 "DO", PMID:21883749 "DO"] synonym: "CD3-delta deficiency" EXACT [] synonym: "IMD19" EXACT [] synonym: "SCID T cell-negative, B cell-positive, NK cell-positive" EXACT [] synonym: "severe combined immunodeficiency 19" EXACT [] synonym: "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive" EXACT [] xref: MIM:615617 xref: MONDO:0014280 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111973 name: immunodeficiency 17 alt_id: MIM:615607 def: "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (DO)" [PMID:1635567 "DO", PMID:17277165 "DO", PMID:8325321 "DO"] synonym: "CD3-Gamma Deficiency" EXACT [] synonym: "CD3 Gamma Deficient" EXACT [] synonym: "IMD17" EXACT [] synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [] synonym: "Immunodeficiency due to Defect in CD3-Gamma" EXACT [] synonym: "SCID-like immunodeficiency, T-cell-partial, B-cell-positive, NK-cell-positive" EXACT [] xref: MESH:C566083 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111974 name: immunodeficiency 59 alt_id: MIM:233600 def: "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. (DO)" [PMID:27913302 "DO"] synonym: "granulocytopenia with immunoglobin abnormality" EXACT [] synonym: "granulocytopenia with immunoglobulin abnormality" EXACT [] synonym: "HYOU1-RELATED CONDITION" EXACT [] synonym: "IMD59" EXACT [] synonym: "immunodeficiency 59 and hypoglycemia" EXACT [] xref: MESH:C565535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111964 ! B cell and dendritic cell deficiency is_a: DOID:12987 ! agranulocytosis is_a: DOID:2583 ! agammaglobulinemia created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:0111975 name: immunodeficiency 44 def: "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. (DO)" [PMID:23391734 "DO", PMID:26122121 "DO"] synonym: "IMD44" EXACT [] xref: MIM:616636 xref: MONDO:0014715 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111976 name: immunodeficiency 9 def: "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (DO)" [PMID:16582901 "DO", PMID:20004786 "DO"] synonym: "CID due to ORAI1 deficiency" EXACT [] synonym: "combined immunodeficiency due to ORAI1 deficiency" EXACT [] synonym: "IMD9" EXACT [] synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" EXACT [] synonym: "ORAI1-related condition" BROAD [] xref: MESH:C557826 xref: MIM:612782 xref: MONDO:0013007 xref: ORDO:317428 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111977 name: immunodeficiency 7 def: "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. (DO)" [PMID:21206088 "DO"] synonym: "IMD7" EXACT [] synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [] synonym: "T-Cell Receptor-Alpha/Beta Deficiency" EXACT [] synonym: "TCR-alpha/beta deficiency" EXACT [] synonym: "TCR-alpha-beta-positive T-cell deficiency" EXACT [] xref: MIM:615387 xref: ORDO:397959 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:9500 ! leukocyte disease created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:0111978 name: immunodeficiency 65 def: "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. (DO)" [PMID:30143481 "DO", PMID:30826365 "DO"] synonym: "IMD65" EXACT [] synonym: "immunodeficiency 65, susceptibility to viral infections" EXACT [] synonym: "IRF9-related condition" BROAD [] xref: MIM:618648 xref: MONDO:0032848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2019-03-20T08:37:01Z [Term] id: DOID:0111979 name: immunodeficiency 49 def: "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. (DO)" [PMID:27959755 "DO", PMID:29985992 "DO"] synonym: "BCL11B-related bafopathy" BROAD [] synonym: "BCL11B-related condition" BROAD [] synonym: "BCL11B-related disorder" BROAD [] synonym: "IMD49" EXACT [] synonym: "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES" EXACT [] synonym: "severe combined immunodeficiency 49" EXACT [] synonym: "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT [] xref: MIM:617237 xref: MONDO:0014981 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111980 name: immunodeficiency 64 def: "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (DO)" [PMID:27776107 "DO", PMID:29155103 "DO", PMID:29282224 "DO"] synonym: "IMD64" EXACT [] synonym: "immunodeficiency-64 with lymphoproliferation" EXACT [] synonym: "RASGRP1-RELATED CONDITION" EXACT [] xref: MIM:618534 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111981 name: immunodeficiency 43 alt_id: MIM:241600 def: "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. (DO)" [PMID:16549777 "DO", PMID:25702838 "DO"] synonym: "B2M deficiency" EXACT [] synonym: "BETA-2-MICROGLOBULIN DEFICIENCY" EXACT [] synonym: "hypercatabolic hypoproteinemia" EXACT [] synonym: "IMD43" EXACT [] xref: MESH:C565476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111982 name: immunodeficiency 56 def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. (DO)" [PMID:23440042 "DO"] synonym: "combined immunodeficiency due to IL21R deficiency" EXACT [] synonym: "IL21R immunodeficiency" EXACT [] synonym: "IMD56" EXACT [] xref: MIM:615207 xref: ORDO:357329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111983 name: immunodeficiency 52 def: "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. (DO)" [PMID:27242165 "DO", PMID:27522155 "DO"] synonym: "IMD52" EXACT [] synonym: "LAT-related condition" BROAD [] synonym: "severe combined immunodeficiency due to LAT deficiency" EXACT [] xref: MIM:617514 xref: MONDO:0044721 xref: ORDO:504523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111984 name: immunodeficiency 58 def: "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. (DO)" [PMID:27647349 "DO", PMID:29479355 "DO"] synonym: "CARMIL2-related condition" BROAD [] synonym: "IMD58" EXACT [] synonym: "severe combined immunodeficiency due to CARMIL2 deficiency" EXACT [] xref: MIM:618131 xref: MONDO:0029134 xref: ORDO:542301 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111985 name: immunodeficiency 32B def: "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)" [PMID:27893462 "DO", PMID:6279813 "DO"] synonym: "IMD32B" EXACT [] synonym: "IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [] xref: MIM:226990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111966 ! monocyte, dendritic cell, and NK cell deficiency is_a: DOID:9500 ! leukocyte disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111986 name: immunodeficiency 32A def: "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)" [PMID:21524210 "DO"] synonym: "CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT" EXACT [] synonym: "IMD32A" EXACT [] synonym: "IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" EXACT [] synonym: "IRF8 deficiency, autosomal dominant" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" EXACT [] synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [] synonym: "MSMD due to partial IRF8 deficiency" EXACT [] xref: MIM:614893 xref: MONDO:0013957 xref: ORDO:319600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111963 ! dendritic cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111987 name: immunodeficiency 13 def: "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. (DO)" [PMID:22184408 "DO"] synonym: "IMD13" EXACT [] synonym: "UNC119-RELATED CONDITION" BROAD [] xref: GARD:12375 xref: MIM:615518 xref: ORDO:228000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111988 name: immunodeficiency 12 def: "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. (DO)" [PMID:23727036 "DO", PMID:24332264 "DO"] synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT [] synonym: "IMD12" EXACT [] xref: MIM:615468 xref: ORDO:397964 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111989 name: immunodeficiency 35 alt_id: MIM:611521 def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. (DO)" [PMID:26304966 "DO"] synonym: "autosomal recessive HIES with atypical mycobacteriosis" EXACT [] synonym: "autosomal recessiv HIES with atypical mycobacteriosis" EXACT [] synonym: "Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive" EXACT [] synonym: "IMD35" EXACT [] synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [] synonym: "TYK2 Deficiency" EXACT [] synonym: "tyrosine kinase 2 deficiency" EXACT [] xref: MESH:C566928 xref: ORDO:331226 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111990 name: immunodeficiency 30 def: "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. (DO)" [PMID:19084105 "DO", PMID:9603732 "DO", PMID:9603733 "DO"] synonym: "IL12RB1 Deficiency" EXACT [] synonym: "IMD30" EXACT [] synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" EXACT [] synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [] synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [] xref: MIM:614891 xref: NCI:C176800 xref: ORDO:319552 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111991 name: immunodeficiency 62 def: "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. (DO)" [PMID:30521495 "DO"] synonym: "ARHGEF1-RELATED CONDITION" EXACT [] synonym: "IMD62" EXACT [] xref: MIM:618459 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2115 ! B cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111992 name: immunodeficiency 53 def: "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. (DO)" [PMID:26385063 "DO"] synonym: "IMD53" EXACT [] synonym: "RELB-related condition" BROAD [] xref: MIM:617585 xref: MONDO:0054696 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0111993 name: immunodeficiency 55 def: "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. (DO)" [PMID:28414293 "DO"] synonym: "combined immunodeficiency due to GINS1 deficiency" EXACT [] synonym: "GINS1-related condition" BROAD [] synonym: "IMD55" EXACT [] xref: MIM:617827 xref: MONDO:0044725 xref: ORDO:505227 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111994 name: immunodeficiency 45 def: "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. (DO)" [PMID:26424569 "DO"] synonym: "IFNAR2-RELATED CONDITION" BROAD [] synonym: "IMD45" EXACT [] xref: MIM:616669 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111995 name: immunodeficiency 28 def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)" [PMID:11335769 "DO", PMID:19084105 "DO"] synonym: "IFNGR2 deficiency" EXACT [] synonym: "IMD28" EXACT [] synonym: "immunodeficiency 28, mycobacteriosis" EXACT [] synonym: "immunodeficiency 28, mycobacteriosis, autosomal recessive" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [] synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [] synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [] xref: MIM:614889 xref: MONDO:0013953 xref: ORDO:319547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111996 name: immunodeficiency 51 def: "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. (DO)" [PMID:27930337 "DO"] synonym: "CANDF5" EXACT [] synonym: "familial candidiasis 5" EXACT [] synonym: "IMD51" EXACT [] xref: MIM:613953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2058 ! chronic mucocutaneous candidiasis is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111997 name: immunodeficiency 63 def: "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. (DO)" [PMID:31040184 "DO", PMID:31040185 "DO"] synonym: "CD122 deficiency" EXACT [] synonym: "IL2RB deficiency" EXACT [] synonym: "IL2RB-RELATED CONDITION" EXACT [] synonym: "IMD63" EXACT [] synonym: "Immunodeficiency 63 with Lymphoproliferation and Autoimmunity" EXACT [] synonym: "interleukin 2 receptor, beta, deficiency of" EXACT [] xref: MIM:618495 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111998 name: immunodeficiency 66 def: "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. (DO)" [PMID:26224645 "DO"] synonym: "IMD66" EXACT [] synonym: "MRTFA-RELATED CONDITION" EXACT [] xref: MIM:618847 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111999 name: immunodeficiency 61 alt_id: MIM:300310 def: "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. (DO)" [PMID:29636373 "DO"] synonym: "AGMX2" EXACT [] synonym: "IMD61" EXACT [] synonym: "SH3KBP1-RELATED CONDITION" EXACT [] synonym: "XLA2" EXACT [] synonym: "X-linked agammaglobulinemia type 2" EXACT [] xref: MESH:C538057 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14179 ! X-linked agammaglobulinemia is_a: DOID:2115 ! B cell deficiency created_by: gthayman creation_date: 2019-04-17T11:33:21Z [Term] id: DOID:0112000 name: immunodeficiency 34 alt_id: MIM:300645 def: "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)" [PMID:17293536 "DO", PMID:21278736 "DO"] synonym: "AMCBX2" EXACT [] synonym: "Atypical Mycobacterial Infection, Disseminated, X-Linked 2" EXACT [] synonym: "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2" EXACT [] synonym: "CYBB-RELATED CONDITION" BROAD [] synonym: "IMD34" EXACT [] synonym: "X-linked familial atypical mycobacteriosis 2" EXACT [] synonym: "X-linked immunodeficiency 34, mycobacteriosis" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" EXACT [] synonym: "X-linked MSMD due to CYBB deficiency" EXACT [] xref: MESH:C567068 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3262 ! phagocyte bactericidal dysfunction is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112001 name: immunodeficiency 50 def: "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. (DO)" [PMID:27405666 "DO"] synonym: "CID due to Moesin deficiency" EXACT [] synonym: "combined immunodeficiency due to Moesin deficiency" EXACT [] synonym: "IMD50" EXACT [] synonym: "immunodeficiency 50, X-linked recessive" EXACT [] synonym: "MSN-related combined immunodeficiency" EXACT [] synonym: "MSN-RELATED CONDITION" EXACT [] synonym: "X-linked Moesin-associated immunodeficiency" EXACT [] xref: MIM:300988 xref: ORDO:504530 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112002 name: immunodeficiency 47 def: "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. (DO)" [PMID:27231034 "DO"] synonym: "ATP6AP1-RELATED DISORDER" EXACT [] synonym: "CDG2S" EXACT [] synonym: "CDG IIs" EXACT [] synonym: "CDGIIs" EXACT [] synonym: "congenital disorder of glycosylation, type IIs" EXACT [] synonym: "IMD47" EXACT [] synonym: "immunodeficiency and hepatopathy with or without neurologic features" EXACT [] xref: MIM:300972 xref: MONDO:0010504 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2018-01-17T15:00:22Z [Term] id: DOID:0112003 name: immunodeficiency 33 def: "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. (DO)" [PMID:15356572 "DO", PMID:31965418 "DO"] synonym: "AMCBX1" EXACT [] synonym: "atypical mycobacterial infection, disseminated, X-linked 1" EXACT [] synonym: "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1" EXACT [] synonym: "atypical mycobacteriosis, familial, X-linked 1" EXACT [] synonym: "IMD33" EXACT [] synonym: "IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED" EXACT [] synonym: "Immunodeficiency without Anhidrotic Ectodermal Dysplasia" EXACT [] synonym: "IPD2" EXACT [] synonym: "isolated immunodeficiency" EXACT [] synonym: "pure immunodeficiency" EXACT [] synonym: "recurrent isolated invasive pneumococcal disease 2" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [] synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [] synonym: "X-linked MSMD due to NEMO deficiency" EXACT [] synonym: "X-linked mycobacterial disease, susceptibility to, 1" EXACT [] xref: MESH:C536289 xref: MESH:C564468 xref: MIM:300636 xref: MONDO:0010386 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112004 name: immunodeficiency 71 def: "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. (DO)" [PMID:30254128 "DO"] synonym: "ARPC1B-RELATED CONDITION" EXACT [] synonym: "IMD71" EXACT [] synonym: "immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia" EXACT [] synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT [] synonym: "PLTEID" EXACT [] xref: MIM:617718 xref: MONDO:0060583 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:2218 ! blood platelet disease is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9005372 ! Inflammation created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112005 name: immunodeficiency 70 def: "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. (DO)" [PMID:32499645 "DO"] synonym: "IMD70" EXACT [] xref: MIM:618969 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112006 name: immunodeficiency 69 def: "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. (DO)" [PMID:32163377 "DO"] synonym: "IFNG deficiency, autosomal recessive" EXACT [] synonym: "IMD69" EXACT [] synonym: "immunodeficiency 69, mycobacteriosis" EXACT [] synonym: "immunodeficiency 69, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:618963 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112007 name: growth hormone secreting pituitary adenoma 2 def: "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. (DO)" [PMID:25470569 "DO", PMID:25806920 "DO"] synonym: "ACROMEGALY DUE TO PITUITARY ADENOMA 2" EXACT [] synonym: "GH-secreting pituitary adenoma 2" EXACT [] synonym: "GPR101-RELATED CONDITION" EXACT [] synonym: "PAGH2" EXACT [] synonym: "PITA2" EXACT [] synonym: "X-linked acromegaly" EXACT [] xref: MIM:300943 is_a: DOID:6255 ! growth hormone secreting pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112008 name: pituitary adenoma 5 def: "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. (DO)" [PMID:28413019 "DO"] synonym: "PITA5" EXACT [] synonym: "pituitary adenoma 5, multiple types" EXACT [] xref: MIM:617540 is_a: DOID:3829 ! pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112009 name: pituitary adenoma 1 def: "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. (DO)" [PMID:16728643 "DO", PMID:17360484 "DO"] synonym: "PITA1" EXACT [] synonym: "pituitary adenoma 1, multiple types" EXACT [] xref: MIM:102200 is_a: DOID:3829 ! pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112010 name: pituitary adenoma 3 def: "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)" [PMID:28766057 "DO", PMID:9589663 "DO"] synonym: "PITA3" EXACT [] synonym: "pituitary adenoma 3, multiple types" EXACT [] synonym: "pituitary adenoma 3, multiple types, somatic" NARROW [] xref: MIM:617686 xref: MONDO:0054665 is_a: DOID:3829 ! pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112011 name: mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. (DO)" [PMID:16227106 "DO", PMID:17367233 "DO", PMID:22405088 "DO"] synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [] synonym: "OLMS" EXACT [] synonym: "Olmsted syndrome" EXACT [] synonym: "palmoplantar and periorificial keratoderma" EXACT [] xref: GARD:4075 xref: MIM:PS614594 xref: ORDO:659 is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112012 name: X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)" [PMID:17367233 "DO", PMID:24313295 "DO"] synonym: "OLMSX" EXACT [] synonym: "PPKMX" EXACT [] synonym: "X-linked Olmsted syndrome" EXACT [] xref: MIM:300918 xref: MONDO:0010486 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112013 name: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)" [PMID:22405088 "DO", PMID:24452206 "DO"] synonym: "autosomal dominant Olmsted syndrome" EXACT [] synonym: "mutilating palmoplantar keratoderma with periorificial keratotic plaques 1" EXACT [] synonym: "OLMS1" EXACT [] synonym: "Olmsted syndrome 1" EXACT [] synonym: "PPKM1" EXACT [] synonym: "TRPV3-RELATED CONDITION" BROAD [] xref: MIM:614594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112014 name: congenital megabladder def: "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. (DO)" [PMID:31513549 "DO"] synonym: "MGBL" EXACT [] synonym: "MYOCD-related condition" BROAD [] xref: EFO:0010655 xref: MIM:618719 xref: MONDO:0032879 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:365 ! bladder disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112015 name: immunodeficiency 72 def: "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. (DO)" [PMID:32647003 "DO"] synonym: "IMD72" EXACT [] synonym: "immunodeficiency 72 with autoinflammation" EXACT [] synonym: "immunodeficiency 72 with autoinflammation and lymphoproliferation" EXACT [] synonym: "NCKAP1L-RELATED CONDITION" EXACT [] xref: MIM:618982 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2019-03-27T09:05:18Z [Term] id: DOID:0112016 name: non-syndromic X-linked intellectual disability 2 alt_id: MIM:300428 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. (DO)" [PMID:2602357 "DO", PMID:6839531 "DO"] synonym: "MRX2" EXACT [] synonym: "XLID2" EXACT [] synonym: "X-linked intellectual developmental disorder 2" EXACT [] synonym: "X-linked mental retardation 2" EXACT [] xref: MESH:C563135 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112017 name: non-syndromic X-linked intellectual disability 73 alt_id: MIM:300355 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. (DO)" [PMID:11477616 "DO"] synonym: "MRX73" EXACT [] synonym: "XLID73" EXACT [] synonym: "X-linked intellectual developmental disorder 73" EXACT [] synonym: "X-linked mental retardation 73" EXACT [] xref: MESH:C564528 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112018 name: non-syndromic X-linked intellectual disability 104 def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. (DO)" [PMID:25644381 "DO"] synonym: "FRMPD4-related condition" BROAD [] synonym: "MRX104" EXACT [] synonym: "XLID104" EXACT [] synonym: "X-linked intellectual developmental disorder 104" EXACT [] synonym: "X-linked mental retardation 104" EXACT [] xref: MIM:300983 xref: MONDO:0010509 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: slaulede creation_date: 2018-07-10T17:47:59Z [Term] id: DOID:0112019 name: non-syndromic X-linked intellectual disability 19 alt_id: MIM:300844 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. (DO)" [PMID:17100996 "DO"] synonym: "MRX19" EXACT [] synonym: "RPS6KA3-RELATED CONDITION" BROAD [] synonym: "XLID19" EXACT [] synonym: "X-linked intellectual developmental disorder 19" EXACT [] synonym: "X-linked mental retardation 19" EXACT [] xref: MESH:C563141 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112020 name: non-syndromic X-linked intellectual disability 103 def: "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. (DO)" [PMID:24817631 "DO", PMID:25644381 "DO"] synonym: "KLHL15-RELATED CONDITION" EXACT [] synonym: "MRX103" EXACT [] synonym: "XLID103" EXACT [] synonym: "X-linked intellectual developmental disorder 103" EXACT [] synonym: "X-linked mental retardation 103" EXACT [] xref: MIM:300982 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112021 name: non-syndromic X-linked intellectual disability ARX-related alt_id: MESH:C564502 alt_id: MIM:300419 def: "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. (DO)" [PMID:10398246 "DO", PMID:17480217 "DO"] synonym: "ARX-related intellectual disability" EXACT [] synonym: "MRX29" EXACT [] synonym: "MRX32" EXACT [] synonym: "MRX33" EXACT [] synonym: "MRX38" EXACT [] synonym: "MRX43" EXACT [] synonym: "MRX52" EXACT [] synonym: "MRX54" EXACT [] synonym: "MRX76" EXACT [] synonym: "MRX87" EXACT [] synonym: "MRXARX" EXACT [] synonym: "XLID29" EXACT [] synonym: "X-linked intellectual developmental disorder 29" EXACT [] synonym: "X-linked mental retardation 29" EXACT [] synonym: "X-linked mental retardation 29 and others" EXACT [] synonym: "X-linked mental retardation 32" EXACT [] synonym: "X-linked mental retardation 33" EXACT [] synonym: "X-linked mental retardation 38" EXACT [] synonym: "X-linked mental retardation 43" EXACT [] synonym: "X-linked mental retardation 52" EXACT [] synonym: "X-linked mental retardation 54" EXACT [] synonym: "X-linked mental retardation 76" EXACT [] synonym: "X-linked mental retardation 87" EXACT [] synonym: "X-linked mental retardation with or without seizures, ARX-related" EXACT [] xref: GARD:5614 xref: MESH:C563150 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112022 name: non-syndromic X-linked intellectual disability 21 def: "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. (DO)" [PMID:18801879 "DO"] synonym: "IL1RAPL1-related condition" BROAD [] synonym: "IL1RAPL1-related disorder" BROAD [] synonym: "MRX21" EXACT [] synonym: "MRX34" EXACT [] synonym: "XLID21" EXACT [] synonym: "X-linked intellectual developmental disorder 21" EXACT [] synonym: "X-linked mental retardation 21" EXACT [] synonym: "X-linked mental retardation 21/34" EXACT [] synonym: "X-linked mental retardation 34" EXACT [] xref: MESH:C563148 xref: MIM:300143 xref: MONDO:0010256 xref: NCI:C179707 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112023 name: non-syndromic X-linked intellectual disability 20 alt_id: MIM:300047 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. (DO)" [PMID:7573127 "DO"] synonym: "MRX20" EXACT [] synonym: "XLID20" EXACT [] synonym: "X-linked intellectual developmental disorder 20" EXACT [] synonym: "X-linked mental retardation 20" EXACT [] xref: MESH:C563142 xref: MONDO:0010231 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112024 name: non-syndromic X-linked intellectual disability 58 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. (DO)" [PMID:10449641 "DO", PMID:12070254 "DO"] synonym: "MRX58" EXACT [] synonym: "TSPAN7-RELATED CONDITION" EXACT [] synonym: "XLID58" EXACT [] synonym: "X-linked intellectual developmental disorder 58" EXACT [] synonym: "X-linked mental retardation 58" EXACT [] xref: MESH:C564566 xref: MIM:300210 xref: MONDO:0010266 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112025 name: female-restricted syndromic X-linked intellectual disability 99 def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. (DO)" [PMID:26833328 "DO"] synonym: "MRXS99F" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 99, female-restricted" EXACT [] synonym: "syndromic X-linked mental retardation 99, female-restricted" EXACT [] synonym: "USP9X-RELATED CONDITION" BROAD [] synonym: "USP9X RELATED DISORDER" BROAD [] synonym: "USP9X-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" EXACT [] xref: GARD:13638 xref: MIM:300968 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: gthayman creation_date: 2019-03-12T12:06:46Z [Term] id: DOID:0112026 name: non-syndromic X-linked intellectual disability 99 def: "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. (DO)" [PMID:24607389 "DO"] synonym: "MRX99" EXACT [] synonym: "USP9X-RELATED CONDITION" BROAD [] synonym: "USP9X RELATED DISORDER" BROAD [] synonym: "USP9X-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "XLID99" EXACT [] synonym: "X-linked intellectual developmental disorder 99" EXACT [] synonym: "X-linked mental retardation 99" EXACT [] xref: MIM:300919 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112027 name: non-syndromic X-linked intellectual disability 14 alt_id: MIM:300062 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. (DO)" [PMID:8026106 "DO"] synonym: "MRX14" EXACT [] synonym: "XLID14" EXACT [] synonym: "X-linked intellectual developmental disorder 14" EXACT [] synonym: "X-linked mental retardation 14" EXACT [] synonym: "X-linked mental retardation, nonspecific, type 14" EXACT [] xref: GARD:8557 xref: MESH:C537454 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2019-12-30T09:42:48Z [Term] id: DOID:0112028 name: non-syndromic X-linked intellectual disability 45 alt_id: MIM:300498 def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)" [PMID:10398246 "DO"] synonym: "INTELLECTUAL DISABILITY, X-LINKED 45" EXACT [] synonym: "MRX45" EXACT [] synonym: "XLID45" EXACT [] synonym: "X-linked intellectual developmental disorder 45" EXACT [] synonym: "X-linked mental retardation 45" EXACT [] xref: MESH:C564503 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112029 name: non-syndromic X-linked intellectual disability 50 alt_id: MIM:300115 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)" [PMID:9415477 "DO"] synonym: "MRX50" EXACT [] synonym: "XLID50" EXACT [] synonym: "X-linked intellectual developmental disorder 50" EXACT [] synonym: "X-linked mental retardation 50" EXACT [] xref: MESH:C564713 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112030 name: non-syndromic X-linked intellectual disability 84 alt_id: MIM:300505 def: "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. (DO)" [PMID:15326629 "DO"] synonym: "MRX84" EXACT [] synonym: "XLID84" EXACT [] synonym: "X-linked intellectual developmental disorder 84" EXACT [] synonym: "X-linked mental retardation 84" EXACT [] xref: MESH:C564501 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112031 name: non-syndromic X-linked intellectual disability 89 alt_id: MIM:300848 def: "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. (DO)" [PMID:14628291 "DO", PMID:23871722 "DO"] synonym: "MRX89" EXACT [] synonym: "XLID89" EXACT [] synonym: "X-linked intellectual developmental disorder 89" EXACT [] synonym: "X-linked mental retardation 89" EXACT [] xref: MESH:C564036 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112032 name: non-syndromic X-linked intellectual disability 92 alt_id: MIM:300851 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. (DO)" [PMID:16385466 "DO", PMID:23871722 "DO"] synonym: "MRX92" EXACT [] synonym: "XLID92" EXACT [] synonym: "X-linked intellectual developmental disorder 92" EXACT [] synonym: "X-linked mental retardation 92" EXACT [] xref: MESH:C564483 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2019-03-27T10:37:08Z [Term] id: DOID:0112033 name: non-syndromic X-linked intellectual disability 81 alt_id: MIM:300433 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. (DO)" [PMID:12673650 "DO"] synonym: "MRX81" EXACT [] synonym: "XLID81" EXACT [] synonym: "X-linked intellectual developmental disorder 81" EXACT [] synonym: "X-linked mental retardation 81" EXACT [] xref: MESH:C564515 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112034 name: non-syndromic X-linked intellectual disability 9 alt_id: MIM:309549 def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. (DO)" [PMID:10398246 "DO", PMID:15162322 "DO"] synonym: "FTSJ1-RELATED CONDITION" EXACT [] synonym: "MRX44" EXACT [] synonym: "MRX9" EXACT [] synonym: "XLID9" EXACT [] synonym: "X-linked intellectual developmental disorder 9" EXACT [] synonym: "X-linked mental retardation 44" EXACT [] synonym: "X-linked mental retardation 9" EXACT [] xref: MESH:C563137 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0112035 name: non-syndromic X-linked intellectual disability 96 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. (DO)" [PMID:19377476 "DO"] synonym: "MRX96" EXACT [] synonym: "XLID96" EXACT [] synonym: "X-linked intellectual developmental disorder 96" EXACT [] synonym: "X-linked mental retardation 96" EXACT [] xref: MIM:300802 xref: MONDO:0010429 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112036 name: non-syndromic X-linked intellectual disability 105 def: "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. (DO)" [PMID:25644381 "DO"] synonym: "MRX105" EXACT [] synonym: "USP27X-RELATED CONDITION" EXACT [] synonym: "XLID105" EXACT [] synonym: "X-linked intellectual developmental disorder 105" EXACT [] synonym: "X-linked mental retardation 105" EXACT [] xref: MIM:300984 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112037 name: chromosome Xp11.22 duplication syndrome alt_id: MESH:C563140 alt_id: MESH:C563147 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. (DO)" [PMID:22840365 "DO", PMID:7943039 "DO"] synonym: "HUWE1-RELATED DISORDER" BROAD [] synonym: "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "MRX17" EXACT [] synonym: "MRX31" EXACT [] synonym: "X-linked mental retardation 17" EXACT [] synonym: "X-linked mental retardation 31" EXACT [] synonym: "Xp11.22 microduplication syndrome" EXACT [] xref: MIM:300705 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112038 name: non-syndromic X-linked intellectual disability 1 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. (DO)" [PMID:20473311 "DO", PMID:3177466 "DO"] synonym: "IQSEC2-related condition" BROAD [] synonym: "MRX" EXACT [] synonym: "MRX1" EXACT [] synonym: "MRX18" EXACT [] synonym: "MRX78" EXACT [] synonym: "XLID1" EXACT [] synonym: "X-linked intellectual developmental disorder 1" EXACT [] synonym: "X-linked mental retardation 1" EXACT [] synonym: "X-linked mental retardation 1/78" EXACT [] synonym: "X-linked mental retardation 18" EXACT [] synonym: "X-linked mental retardation 78" EXACT [] xref: GARD:13221 xref: MESH:C564489 xref: MESH:C567906 xref: MIM:309530 xref: MONDO:0010656 xref: NCI:C133729 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112039 name: non-syndromic X-linked intellectual disability 77 alt_id: MIM:300454 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. (DO)" [PMID:12949971 "DO"] synonym: "MRX77" EXACT [] synonym: "XLID77" EXACT [] synonym: "X-linked intellectual developmental disorder 77" EXACT [] synonym: "X-linked mental retardation 77" EXACT [] xref: MESH:C564511 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112040 name: non-syndromic X-linked intellectual disability 100 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. (DO)" [PMID:24812067 "DO"] synonym: "INTELLECTUAL DISABILITY, X-LINKED 100" EXACT [] synonym: "KIF4A-related condition" BROAD [] synonym: "MRX100" EXACT [] synonym: "XLID100" EXACT [] synonym: "X-linked intellectual developmental disorder 100" EXACT [] synonym: "X-linked mental retardation 100" EXACT [] xref: MIM:300923 xref: MONDO:0010488 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112041 name: non-syndromic X-linked intellectual disability 90 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. (DO)" [PMID:15185169 "DO"] synonym: "DLG3-RELATED CONDITION" EXACT [] synonym: "DLG3-related disorder" EXACT [] synonym: "MRX90" EXACT [] synonym: "XLID90" EXACT [] synonym: "X-linked intellectual developmental disorder 90" EXACT [] synonym: "X-linked mental retardation 90" EXACT [] xref: MIM:300850 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112042 name: Tonne-Kalscheuer syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. (DO)" [PMID:25735484 "DO", PMID:29728705 "DO"] synonym: "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" EXACT [] synonym: "MRX61" EXACT [] synonym: "RLIM-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT [] synonym: "TOKAS" EXACT [] synonym: "X-linked mental retardation 61" EXACT [] xref: MIM:300978 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: gthayman creation_date: 2019-04-19T12:03:39Z [Term] id: DOID:0112043 name: non-syndromic X-linked intellectual disability 91 alt_id: MIM:300577 def: "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. (DO)" [PMID:15915161 "DO"] synonym: "MRX91" EXACT [] synonym: "XLID91" EXACT [] synonym: "X-linked intellectual developmental disorder 91" EXACT [] synonym: "X-linked intellectual disability 91" EXACT [] synonym: "X-linked mental retardation 91" EXACT [] xref: MESH:C564482 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: slaulede creation_date: 2018-11-09T10:26:28Z [Term] id: DOID:0112044 name: non-syndromic X-linked intellectual disability 98 def: "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. (DO)" [PMID:23615299 "DO", PMID:27358180 "DO"] synonym: "MRX98" EXACT [] synonym: "NEXMIF-RELATED CONDITION" EXACT [] synonym: "XLID98" EXACT [] synonym: "X-linked intellectual developmental disorder 98" EXACT [] synonym: "X-linked mental retardation 98" EXACT [] xref: MIM:300912 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112045 name: non-syndromic X-linked intellectual disability 93 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. (DO)" [PMID:17668385 "DO"] synonym: "BRWD3-related condition" EXACT [] synonym: "BRWD3-related disorder" EXACT [] synonym: "MRX93" EXACT [] synonym: "XLID93" EXACT [] synonym: "X-linked intellectual developmental disorder 93" EXACT [] synonym: "X-linked mental retardation 93" EXACT [] synonym: "X-linked mental retardation with macrocephaly" EXACT [] xref: MESH:C567066 xref: MIM:300659 xref: MONDO:0010393 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9003816 ! Macrocephaly created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112046 name: non-syndromic X-linked intellectual disability 97 alt_id: MIM:300803 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. (DO)" [PMID:10398247 "DO", PMID:27993705 "DO"] synonym: "MRX65" EXACT [] synonym: "MRX97" EXACT [] synonym: "MRXZ" EXACT [] synonym: "nonsyndromic X-linked intellectual developmental disorder 97" EXACT [] synonym: "XLID97" EXACT [] synonym: "X-linked intellectual developmental disorder 97" EXACT [] synonym: "X-linked mental retardation 65" EXACT [] synonym: "X-linked mental retardation 97" EXACT [] synonym: "X-linked mental retardation, ZNF711-related" EXACT [] synonym: "ZNF711-RELATED DISORDER" EXACT [] xref: MESH:C567583 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2019-03-21T11:40:37Z [Term] id: DOID:0112047 name: non-syndromic X-linked intellectual disability 53 alt_id: MIM:300324 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. (DO)" [PMID:11337751 "DO"] synonym: "MRX53" EXACT [] synonym: "XLID53" EXACT [] synonym: "X-linked intellectual developmental disorder 53" EXACT [] synonym: "X-linked mental retardation 53" EXACT [] xref: MESH:C564533 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-06-16T12:44:21Z [Term] id: DOID:0112048 name: non-syndromic X-linked intellectual disability 101 def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. (DO)" [PMID:24115387 "DO"] synonym: "INTELLECTUAL DISABILITY, X-LINKED 101" EXACT [] synonym: "MID2-RELATED CONDITION" EXACT [] synonym: "MRX101" EXACT [] synonym: "XLID101" EXACT [] synonym: "X-linked intellectual developmental disorder 101" EXACT [] synonym: "X-linked mental retardation 101" EXACT [] xref: MIM:300928 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112049 name: non-syndromic X-linked intellectual disability 23 alt_id: MIM:300046 def: "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. (DO)" [PMID:6711606 "DO", PMID:8852668 "DO"] synonym: "MRX23" EXACT [] synonym: "XLID23" EXACT [] synonym: "X-linked intellectual developmental disorder 23" EXACT [] synonym: "X-linked mental retardation 23" EXACT [] xref: MESH:C563144 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112050 name: non-syndromic X-linked intellectual disability 63 alt_id: MIM:300387 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. (DO)" [PMID:10854107 "DO", PMID:11889465 "DO"] synonym: "ACSL4-RELATED CONDITION" EXACT [] synonym: "ACSL4-related intellectual disability" EXACT [] synonym: "MRX63" EXACT [] synonym: "MRX68" EXACT [] synonym: "XLID63" EXACT [] synonym: "X-linked intellectual developmental disorder 63" EXACT [] synonym: "X-linked mental retardation 63" EXACT [] synonym: "X-linked mental retardation 68" EXACT [] xref: GARD:5613 xref: MESH:C564522 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-08-03T12:10:30Z [Term] id: DOID:0112051 name: non-syndromic X-linked intellectual disability 30 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (DO)" [PMID:10946356 "DO", PMID:9332663 "DO", PMID:9731525 "DO"] synonym: "MRX30" EXACT [] synonym: "MRX47" EXACT [] synonym: "PAK3-related condition" BROAD [] synonym: "XLID30" EXACT [] synonym: "X-linked intellectual developmental disorder 30" EXACT [] synonym: "X-linked mental retardation 30" EXACT [] synonym: "X-linked mental retardation 30/47" EXACT [] synonym: "X-linked mental retardation 47" EXACT [] xref: MESH:C563146 xref: MESH:C563151 xref: MIM:300558 xref: MONDO:0010361 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112052 name: non-syndromic X-linked intellectual disability 82 alt_id: MIM:300518 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. (DO)" [PMID:15526294 "DO"] synonym: "MRX82" EXACT [] synonym: "XLID82" EXACT [] synonym: "X-linked impaired intellectual development 82" EXACT [] synonym: "X-linked intellectual developmental disorder 82" EXACT [] synonym: "X-linked mental retardation 82" EXACT [] xref: MESH:C564496 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112053 name: non-syndromic X-linked intellectual disability 88 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. (DO)" [PMID:12089445 "DO", PMID:23871722 "DO"] synonym: "MRX88" EXACT [] synonym: "XLID88" EXACT [] synonym: "X-linked intellectual developmental disorder 88" EXACT [] synonym: "X-linked mental retardation 88" EXACT [] xref: MIM:300852 xref: MONDO:0010454 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112054 name: non-syndromic X-linked intellectual disability 107 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. (DO)" [PMID:29374277 "DO"] synonym: "MRX107" EXACT [] synonym: "XLID107" EXACT [] synonym: "X-linked intellectual developmental disorder 107" EXACT [] synonym: "X-linked mental retardation 107" EXACT [] xref: MIM:301013 xref: MONDO:0049222 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0112055 name: non-syndromic X-linked intellectual disability 46 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. (DO)" [PMID:9783701 "DO"] synonym: "ARHGEF6-related condition" BROAD [] synonym: "INTELLECTUAL DISABILITY, X-LINKED 46" EXACT [] synonym: "MRX46" EXACT [] synonym: "XLID46" EXACT [] synonym: "X-linked intellectual developmental disorder 46" EXACT [] synonym: "X-linked mental retardation 46" EXACT [] xref: MESH:C564513 xref: MIM:300436 xref: MONDO:0010326 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: slaulede creation_date: 2019-01-14T17:54:12Z [Term] id: DOID:0112056 name: X-linked intellectual disability-short stature-overweight syndrome def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. (DO)" [PMID:26166480 "DO"] synonym: "Kumar type of X-linked syndromic intellectual developmental disorder" EXACT [] synonym: "MRX12" EXACT [] synonym: "MRX35" EXACT [] synonym: "MRXSK" EXACT [] synonym: "THOC2-related condition" BROAD [] synonym: "XLID12" EXACT [] synonym: "X-linked intellectual developmental disorder 12" EXACT [] synonym: "X-linked mental retardation 12" EXACT [] synonym: "X-linked mental retardation 35" EXACT [] xref: MIM:300957 xref: MONDO:0010496 xref: ORDO:457240 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112057 name: non-syndromic X-linked intellectual disability 42 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. (DO)" [PMID:11807862 "DO"] synonym: "MRX42" EXACT [] synonym: "XLID42" EXACT [] synonym: "X-linked intellectual developmental disorder 42" EXACT [] synonym: "X-linked mental retardation 42" EXACT [] xref: MESH:C564524 xref: MIM:300372 xref: MONDO:0010309 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112058 name: non-syndromic X-linked intellectual disability 41 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. (DO)" [PMID:8826463 "DO", PMID:9106537 "DO", PMID:9620768 "DO"] synonym: "GDI1-RELATED CONDITION" BROAD [] synonym: "MRX41" EXACT [] synonym: "MRX48" EXACT [] synonym: "XLID41" EXACT [] synonym: "X-linked intellectual developmental disorder 41" EXACT [] synonym: "X-linked mental retardation 41" EXACT [] synonym: "X-linked mental retardation 48" EXACT [] xref: MIM:300849 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112059 name: non-syndromic X-linked intellectual disability 72 alt_id: MIM:300271 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. (DO)" [PMID:11050621 "DO", PMID:20159109 "DO"] synonym: "MRX72" EXACT [] synonym: "RAB39B-RELATED CONDITION" BROAD [] synonym: "XLID72" EXACT [] synonym: "X-linked intellectual developmental disorder 72" EXACT [] synonym: "X-linked mental retardation 72" EXACT [] xref: MESH:C564547 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-08-03T12:02:41Z [Term] id: DOID:0112060 name: Raynaud-Claes syndrome def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. (DO)" [PMID:23647072 "DO", PMID:27550844 "DO", PMID:8826458 "DO", PMID:9415477 "DO"] synonym: "CLCN4-RELATED CONDITION" EXACT [] synonym: "CLCN4-RELATED DISORDER" EXACT [] synonym: "CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "mental retardation, X-linked 15" EXACT [] synonym: "mental retardation, X-linked 49" EXACT [] synonym: "mental retardation, X-linked 49/15" EXACT [] synonym: "MRX15" EXACT [] synonym: "MRX49" EXACT [] synonym: "MRXSRC" EXACT [] xref: EFO:0009066 xref: MIM:300114 xref: MONDO:0010250 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112061 name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia def: "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. (DO)" [PMID:30723080 "DO", PMID:32542921 "DO"] synonym: "IMD73B" EXACT [] synonym: "Immunodeficiency 73B" EXACT [] xref: MIM:618986 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112062 name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia def: "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. (DO)" [PMID:25512081 "DO"] synonym: "IMD73C" EXACT [] synonym: "immunodeficiency 73C" EXACT [] xref: MIM:618987 xref: MONDO:0033555 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112063 name: X-Linked immunodeficiency 74 def: "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. (DO)" [PMID:32706371 "DO"] synonym: "COVID19-related immunodeficiency-74, X-linked" EXACT [] synonym: "IMD74" EXACT [] synonym: "Immunodeficiency 74" EXACT [] synonym: "Immunodeficiency 74, COVID19-related" EXACT [] synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" EXACT [] synonym: "TLR7 deficiency" EXACT [] synonym: "TLR7-RELATED CONDITION" BROAD [] synonym: "X-linked immunodeficiency 74,COVID-19-related" EXACT [] xref: MIM:301051 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080600 ! COVID-19 is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112064 name: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis def: "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. (DO)" [PMID:21167572 "DO", PMID:32542921 "DO"] synonym: "IMD73A" EXACT [] synonym: "neutrophil immunodeficiency syndrome" EXACT [] xref: MESH:C564275 xref: MIM:608203 xref: MONDO:0011988 xref: ORDO:183707 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112065 name: nuclear type mitochondrial complex I deficiency def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. (DO)" [PMID:22644603 "DO", PMID:22972949 "DO"] synonym: "MC1DN" EXACT [] xref: MIM:PS252010 is_a: DOID:0060536 ! mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112066 name: nuclear type mitochondrial complex I deficiency 6 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. (DO)" [PMID:11220739 "DO"] synonym: "MC1DN6" EXACT [] synonym: "NDUFS2-RELATED CONDITION" BROAD [] xref: MIM:618228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112067 name: nuclear type mitochondrial complex I deficiency 25 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. (DO)" [PMID:22277967 "DO"] synonym: "MC1DN25" EXACT [] xref: MIM:618246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112068 name: nuclear type mitochondrial complex I deficiency 5 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. (DO)" [PMID:11349233 "DO"] synonym: "MC1DN5" EXACT [] synonym: "NDUFS1-RELATED CONDITION" EXACT [] xref: MIM:618226 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112069 name: nuclear type mitochondrial complex I deficiency 22 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. (DO)" [PMID:21150889 "DO"] synonym: "MC1DN22" EXACT [] synonym: "NDUFA10-RELATED CONDITION" EXACT [] xref: MIM:618243 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112070 name: nuclear type mitochondrial complex I deficiency 18 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. (DO)" [PMID:19463981 "DO"] synonym: "MC1DN18" EXACT [] xref: MIM:618240 xref: MONDO:0032623 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112071 name: nuclear type mitochondrial complex I deficiency 31 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. (DO)" [PMID:28604674 "DO"] synonym: "MC1DN31" EXACT [] synonym: "TIMMDC1-RELATED CONDITION" EXACT [] xref: MIM:618251 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112072 name: nuclear type mitochondrial complex I deficiency 20 alt_id: MIM:611126 def: "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. (DO)" [https://ghr.nlm.nih.gov/condition/acad9-deficiency "DO", PMID:17564966 "DO", PMID:21057504 "DO"] synonym: "ACAD9 deficiency" EXACT [] synonym: "ACAD9-RELATED CONDITION" EXACT [] synonym: "Acyl-CoA dehydrogenase 9 deficiency" EXACT [] synonym: "deficiency of acyl-CoA dehydrogenase family, member 9" EXACT [] synonym: "MC1DN20" EXACT [] synonym: "mitochondrial complex 1 deficiency due to ACAD9 deficiency" EXACT [] synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [] xref: MESH:C567006 xref: ORDO:99901 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:9002802 ! Acidoses is_a: DOID:9005532 ! Muscle Weakness is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112073 name: nuclear type mitochondrial complex I deficiency 9 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. (DO)" [PMID:15372108 "DO"] synonym: "MC1DN9" EXACT [] synonym: "NDUFS6-RELATED CONDITION" EXACT [] xref: MIM:618232 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112074 name: nuclear type mitochondrial complex I deficiency 1 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (DO)" [PMID:10330338 "DO", PMID:10944442 "DO"] synonym: "MC1DN1" EXACT [] xref: MIM:252010 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-06-23T10:46:32Z [Term] id: DOID:0112075 name: nuclear type mitochondrial complex I deficiency 10 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. (DO)" [PMID:16200211 "DO"] synonym: "MC1DN10" EXACT [] synonym: "NDUFAF2-RELATED DISORDER" EXACT [] xref: MIM:618233 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112076 name: nuclear type mitochondrial complex I deficiency 13 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. (DO)" [PMID:18513682 "DO"] synonym: "MC1DN13" EXACT [] synonym: "NDUFA2-related condition" EXACT [] xref: MIM:618235 xref: MONDO:0032618 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112077 name: nuclear type mitochondrial complex I deficiency 15 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. (DO)" [PMID:18179882 "DO"] synonym: "MC1DN15" EXACT [] synonym: "NDUFAF4-RELATED CONDITION" EXACT [] xref: MIM:618237 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112078 name: nuclear type mitochondrial complex I deficiency 17 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. (DO)" [PMID:18614015 "DO"] synonym: "MC1DN17" EXACT [] synonym: "NDUFAF6-RELATED CONDITION" BROAD [] xref: MIM:618239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112079 name: nuclear type mitochondrial complex I deficiency 24 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. (DO)" [PMID:22200994 "DO"] synonym: "MC1DN24" EXACT [] synonym: "NDUFB9-RELATED CONDITION" EXACT [] xref: MIM:618245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112080 name: nuclear type mitochondrial complex I deficiency 32 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. (DO)" [PMID:29429571 "DO"] synonym: "MC1DN32" EXACT [] synonym: "NDUFB8-RELATED CONDITION" EXACT [] xref: MIM:618252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112081 name: nuclear type mitochondrial complex I deficiency 8 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. (DO)" [PMID:14729820 "DO"] synonym: "MC1DN8" EXACT [] synonym: "NDUFS3-RELATED CONDITION" EXACT [] xref: MIM:618230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112082 name: nuclear type mitochondrial complex I deficiency 4 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. (DO)" [PMID:10080174 "DO"] synonym: "MC1DN4" EXACT [] synonym: "NDUFV1-related condition" EXACT [] synonym: "NDUFV1-related disorder" EXACT [] synonym: "NDUFV1-related disorders" EXACT [] xref: MIM:618225 xref: MONDO:0032609 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112083 name: nuclear type mitochondrial complex I deficiency 2 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. (DO)" [PMID:9837812 "DO"] synonym: "MC1DN2" EXACT [] synonym: "NDUFS8-related condition" BROAD [] xref: MIM:618222 xref: MONDO:0032606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: slaulede creation_date: 2018-05-22T18:34:35Z [Term] id: DOID:0112084 name: nuclear type mitochondrial complex I deficiency 29 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. (DO)" [PMID:27374773 "DO"] synonym: "MC1DN29" EXACT [] synonym: "TMEM126B-RELATED CONDITION" EXACT [] xref: MIM:618250 xref: MONDO:0032633 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112085 name: nuclear type mitochondrial complex I deficiency 19 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. (DO)" [PMID:20818383 "DO"] synonym: "FOXRED1-RELATED CONDITION" EXACT [] synonym: "MC1DN19" EXACT [] synonym: "mitochondrial complex I deficiency, mitochondrial type 19" RELATED [] xref: MIM:618241 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112086 name: nuclear type mitochondrial complex I deficiency 26 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. (DO)" [PMID:22114105 "DO"] synonym: "MC1DN26" EXACT [] synonym: "NDUFA9-related condition" BROAD [] xref: MIM:618247 xref: MONDO:0032630 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112087 name: nuclear type mitochondrial complex I deficiency 23 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. (DO)" [PMID:21617257 "DO"] synonym: "MC1DN23" EXACT [] xref: MIM:618244 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112088 name: nuclear type mitochondrial complex I deficiency 21 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. (DO)" [PMID:20818383 "DO"] synonym: "MC1DN21" EXACT [] synonym: "NUBPL-RELATED CONDITION" EXACT [] xref: MIM:618242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112089 name: nuclear type mitochondrial complex I deficiency 11 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. (DO)" [PMID:17557076 "DO"] synonym: "MC1DN11" EXACT [] synonym: "NDUFAF1-RELATED CONDITION" EXACT [] xref: MIM:618234 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112090 name: nuclear type mitochondrial complex I deficiency 27 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. (DO)" [PMID:22499348 "DO"] synonym: "MC1DN27" EXACT [] synonym: "MTFMT-RELATED CONDITION" BROAD [] synonym: "MTFMT-RELATED DISORDERS" BROAD [] xref: MIM:618248 xref: MONDO:0032631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: slaulede creation_date: 2018-10-11T10:50:34Z [Term] id: DOID:0112091 name: nuclear type mitochondrial complex I deficiency 34 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. (DO)" [PMID:31866046 "DO"] synonym: "MC1DN34" EXACT [] xref: MIM:618776 xref: MONDO:0032910 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112092 name: nuclear type mitochondrial complex I deficiency 7 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. (DO)" [PMID:12754703 "DO"] synonym: "MC1DN7" EXACT [] synonym: "NDUFV2-RELATED CONDITION" EXACT [] xref: MIM:618229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112093 name: nuclear type mitochondrial complex I deficiency 3 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. (DO)" [PMID:10330338 "DO", PMID:17275378 "DO"] synonym: "MC1DN3" EXACT [] synonym: "NDUFS7-RELATED CONDITION" EXACT [] xref: MIM:618224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112094 name: nuclear type mitochondrial complex I deficiency 14 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. (DO)" [PMID:18306244 "DO"] synonym: "MC1DN14" EXACT [] synonym: "NDUFA11-RELATED CONDITION" EXACT [] xref: MIM:618236 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112095 name: nuclear type mitochondrial complex I deficiency 28 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. (DO)" [PMID:25901006 "DO"] synonym: "MC1DN28" EXACT [] synonym: "NDUFA13-RELATED CONDITION" BROAD [] xref: MIM:618249 xref: MONDO:0032632 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112096 name: nuclear type mitochondrial complex I deficiency 16 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. (DO)" [PMID:18940309 "DO"] synonym: "MC1DN16" EXACT [] synonym: "NDUFAF5-RELATED CONDITION" EXACT [] xref: MIM:618238 xref: MONDO:0032621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112097 name: nuclear type mitochondrial complex I deficiency 33 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. (DO)" [PMID:30245030 "DO"] synonym: "MC1DN33" EXACT [] synonym: "NDUFA6-related condition" BROAD [] xref: MIM:618253 xref: MONDO:0032636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112098 name: nuclear type mitochondrial complex I deficiency 30 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)" [PMID:26741492 "DO"] synonym: "MC1DN30" EXACT [] synonym: "NDUFB11-RELATED DISORDERS" BROAD [] xref: MIM:301021 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112099 name: nuclear type mitochondrial complex I deficiency 12 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. (DO)" [PMID:17262856 "DO"] synonym: "MC1DN12" EXACT [] xref: MIM:301020 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0112100 name: mitochondrial type mitochondrial complex I deficiency def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. (DO)" [PMID:22972949 "DO"] synonym: "MC1DM" EXACT [] is_a: DOID:0060536 ! mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112101 name: mitochondrial type mitochondrial complex I deficiency 1 def: "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. (DO)" [PMID:11456298 "DO"] synonym: "MC1DM1" EXACT [] xref: MIM:500014 xref: MONDO:0027068 is_a: DOID:0112100 ! mitochondrial type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2019-05-16T09:41:11Z [Term] id: DOID:0112102 name: Sotos syndrome 2 def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. (DO)" [PMID:20673863 "DO"] synonym: "Malan overgrowth syndrome" EXACT [] synonym: "Malan syndrome" EXACT [] synonym: "MALNS" EXACT [] synonym: "NFIX-RELATED CONDITION" BROAD [] synonym: "SOTOS2" EXACT [] xref: MIM:614753 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14748 ! Sotos syndrome created_by: mtutaj creation_date: 2019-12-30T08:58:21Z [Term] id: DOID:0112103 name: Sotos syndrome 1 def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. (DO)" [PMID:11896389 "DO", PMID:14517949 "DO"] synonym: "NSD1-RELATED CONDITION" EXACT [] synonym: "SOTOS1" EXACT [] xref: MIM:117550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14748 ! Sotos syndrome created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112104 name: Sotos syndrome 3 def: "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. (DO)" [PMID:25753423 "DO"] synonym: "APC2-RELATED CONDITION" BROAD [] synonym: "SOTOS3" EXACT [] xref: MIM:617169 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:14748 ! Sotos syndrome created_by: mtutaj creation_date: 2019-03-19T13:31:16Z [Term] id: DOID:0112105 name: X-linked parkinsonism-spasticity syndrome def: "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. (DO)" [PMID:20629132 "DO", PMID:23595882 "DO"] synonym: "X-linked parkinsonism with spasticity" EXACT [] synonym: "XPDS" EXACT [] xref: MIM:300911 xref: MONDO:0010482 xref: ORDO:363654 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080855 ! Parkinsonism created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112106 name: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia def: "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. (DO)" [PMID:16001442 "DO"] synonym: "HDAC6-related condition" BROAD [] synonym: "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" EXACT [] synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [] xref: MIM:300863 xref: MONDO:0010463 xref: ORDO:163966 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0080352 ! X-linked chondrodysplasia punctata 2 is_a: DOID:10629 ! microphthalmia is_a: DOID:10908 ! hydrocephalus created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112107 name: McLeod syndrome def: "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. (DO)" [https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/ "DO", PMID:17683354 "DO", PMID:8004674 "DO"] synonym: "MCLDS" EXACT [] synonym: "McLeod neuroacanthocytosis syndrome" EXACT [] synonym: "McLeod phenotype" EXACT [] synonym: "McLeod syndrome with chronic granulomatous disease" EXACT [] synonym: "McLeod syndrome with or without chronic granulomatous disease" EXACT [] synonym: "Neuroacanthocytosis, McLeod Type" EXACT [] synonym: "XK-related condition" BROAD [] synonym: "X-linked McLeod syndrome" EXACT [] xref: GARD:10731 xref: MESH:C564038 xref: MIM:300842 xref: MONDO:0018945 xref: ORDO:59306 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050765 ! neuroacanthocytosis created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112108 name: myofibrillar myopathy 10 def: "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. (DO)" [PMID:32779703 "DO"] synonym: "MFM10" EXACT [] synonym: "SVIL-RELATED CONDITION" EXACT [] xref: MIM:619040 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112109 name: spermatogenic failure 44 def: "A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. (DO)" [PMID:31654588 "DO"] synonym: "SPGF44" EXACT [] xref: MIM:619044 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112110 name: combined oxidative phosphorylation deficiency 49 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. (DO)" [PMID:29361167 "DO"] synonym: "COXPD49" EXACT [] xref: MIM:619024 xref: MONDO:0033569 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112111 name: combined oxidative phosphorylation deficiency 50 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. (DO)" [PMID:31039582 "DO"] synonym: "COXPD50" EXACT [] xref: MIM:619025 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112112 name: combined oxidative phosphorylation deficiency 48 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. (DO)" [PMID:27356879 "DO"] synonym: "COXPD48" EXACT [] xref: MIM:619012 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112113 name: combined oxidative phosphorylation deficiency 45 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. (DO)" [PMID:23603806 "DO"] synonym: "COXPD45" EXACT [] synonym: "MRPL12-RELATED CONDITION" EXACT [] xref: MIM:618951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112114 name: combined oxidative phosphorylation deficiency 47 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. (DO)" [PMID:30566640 "DO"] synonym: "COXPD47" EXACT [] xref: MIM:618958 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112115 name: combined oxidative phosphorylation deficiency 46 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. (DO)" [PMID:26741492 "DO"] synonym: "COXPD46" EXACT [] synonym: "MRPS23-related condition" EXACT [] xref: MIM:618952 xref: MONDO:0033534 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112116 name: combined oxidative phosphorylation deficiency 43 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. (DO)" [PMID:30452684 "DO"] synonym: "COXPD43" EXACT [] synonym: "TIMM22-RELATED DISORDER" EXACT [] xref: MIM:618851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112117 name: combined oxidative phosphorylation deficiency 40 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. (DO)" [PMID:26741492 "DO"] synonym: "COXPD40" EXACT [] synonym: "QRSL1-related COXPD" EXACT [] synonym: "QRSL1-RELATED DISORDER" EXACT [] xref: MIM:618835 xref: ORDO:570491 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112118 name: combined oxidative phosphorylation deficiency 42 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. (DO)" [PMID:30283131 "DO"] synonym: "COXPD42" EXACT [] xref: MIM:618839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112119 name: combined oxidative phosphorylation deficiency 41 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. (DO)" [PMID:30283131 "DO"] synonym: "COXPD41" EXACT [] synonym: "GATB-RELATED CONDITION" EXACT [] xref: MIM:618838 xref: MONDO:0030007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2019-03-20T10:01:07Z [Term] id: DOID:0112120 name: SHOX-related short stature def: "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. (DO)" [PMID:9140395 "DO", PMID:9916840 "DO"] synonym: "idiopathic familial short stature" EXACT [] synonym: "ISS" EXACT [] synonym: "X-linked idiopathic short stature" NARROW [] xref: MESH:C564479 xref: MIM:300582 xref: MONDO:0010367 xref: ORDO:314795 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080006 ! bone development disease is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112121 name: nephrogenic syndrome of inappropriate antidiuresis alt_id: MIM:300539 def: "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. (DO)" [PMID:15872203 "DO"] synonym: "AVPR2-RELATED CONDITION" BROAD [] synonym: "NSIAD" EXACT [] xref: MESH:C564491 xref: ORDO:93606 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3401 ! inappropriate ADH syndrome is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112122 name: X-linked epilepsy with variable learning disabilities and behavior disorders def: "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)" [PMID:14985377 "DO", PMID:21441247 "DO"] synonym: "EPILX" EXACT [] synonym: "EPILX1" EXACT [] synonym: "X-linked bathing epilepsy" EXACT [] synonym: "X-linked epilepsy 1 with variable learning disabilities and behavior disorders" EXACT [] synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT [] synonym: "X-linked epilepsy with reflex bathing seizures" EXACT [] xref: GARD:16748 xref: MESH:C564505 xref: MIM:300491 xref: MONDO:0010339 xref: ORDO:85294 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1826 ! epilepsy is_a: DOID:8927 ! learning disability created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112123 name: deafness, dystonia, and cerebral hypomyelination alt_id: MIM:300475 def: "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. (DO)" [PMID:24011989 "DO"] synonym: "BCAP31-RELATED CONDITION" EXACT [] synonym: "CADDS" NARROW [] synonym: "contiguous Abcd1/Dxs1375e deletion syndrome" EXACT [] synonym: "DDCH" EXACT [] synonym: "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" EXACT [] synonym: "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome" EXACT [] xref: GARD:12472 xref: MESH:C564508 xref: ORDO:369939 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112124 name: X-linked retinitis pigmentosa and sinorespiratory infections alt_id: DOID:9005415 alt_id: MIM:300455 def: "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. (DO)" [PMID:10094550 "DO", PMID:1733835 "DO"] synonym: "primary ciliary dyskinesia-retinitis pigmentosa syndrome" EXACT [] synonym: "RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS" NARROW [] synonym: "RPSRDF" EXACT [] synonym: "X-linked retinitis pigmentosa and sinorespiratory infections with deafness" NARROW [] synonym: "X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness" EXACT [] xref: MESH:C567595 xref: ORDO:247522 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112125 name: alpha-thalassemia myelodysplasia syndrome alt_id: MIM:300448 def: "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. (DO)" [PMID:12858175 "DO"] synonym: "acquired HbH disease" EXACT [] synonym: "acquired hemoglobin H disease" EXACT [] synonym: "alpha-thalassemia-myelodysplastic syndrome" EXACT [] synonym: "ATMDS" EXACT [] xref: MESH:C563023 xref: ORDO:231401 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:1099 ! alpha thalassemia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112126 name: Stocco Dos Santos type X-linked intellectual disability alt_id: MIM:300434 def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. (DO)" [PMID:16249884 "DO"] synonym: "mental retardation, Stocco dos Santos type" EXACT [] synonym: "MRXSDS" EXACT [] synonym: "SDSX" EXACT [] synonym: "Stocco dos Santos Syndrome" EXACT [] synonym: "Stocco dos Santos X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Stocco dos Santos type" EXACT [] synonym: "X-linked mental retardation, Stocco Dos Santos type" EXACT [] xref: MESH:C537495 xref: ORDO:85288 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112127 name: HRPT-related hyperuricemia alt_id: MIM:300323 def: "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. (DO)" [PMID:10657589 "DO", PMID:2896620 "DO"] synonym: "Gout, HPRT-Related" EXACT [] synonym: "HPRT1-RELATED DISORDERS" BROAD [] synonym: "HPRT deficiency, grade I" EXACT [] synonym: "HPRT-related hyperuricemia" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase partial deficiency" EXACT [] synonym: "Kelley-Seegmiller syndrome" EXACT [] synonym: "partial HPRT1 deficiency" EXACT [] synonym: "partial HPRT deficiency" EXACT [] xref: MESH:C562583 xref: ORDO:79233 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13189 ! gout is_a: DOID:1920 ! hyperuricemia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112128 name: X-linked severe congenital neutropenia alt_id: MIM:300299 def: "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)" [PMID:11242115 "DO"] synonym: "SCNX" EXACT [] synonym: "XLN" EXACT [] xref: GARD:3981 xref: MESH:C564539 xref: NCI:C176818 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112129 name: severe congenital neutropenia 7 def: "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. (DO)" [PMID:24753537 "DO", PMID:26324699 "DO"] synonym: "autosomal recessive severe congenital neutropenia 7" EXACT [] synonym: "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" EXACT [] synonym: "CSF3R-RELATED DISORDER" BROAD [] synonym: "SCN7" EXACT [] xref: MIM:617014 xref: ORDO:420702 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112130 name: autosomal dominant severe congenital neutropenia def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. (DO)" [https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia "DO", PMID:28593997 "DO"] xref: GARD:9558 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112131 name: severe congenital neutropenia 2 alt_id: MIM:613107 def: "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. (DO)" [PMID:12778173 "DO"] synonym: "GFI1-RELATED CONDITION" BROAD [] synonym: "SCN2" EXACT [] synonym: "severe congenital neutropenia, autosomal dominant 2" EXACT [] xref: MESH:C567748 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112132 name: severe congenital neutropenia 5 def: "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. (DO)" [PMID:23599270 "DO", PMID:23738510 "DO"] synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [] synonym: "congenital neutropenia-myelofibrosis-nephromegaly syndrome" EXACT [] synonym: "SCN5" EXACT [] synonym: "severe congenital neutropenia 5, autosomal recessive" EXACT [] synonym: "VPS45 deficiency" EXACT [] xref: MIM:615285 xref: ORDO:369852 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112133 name: severe congenital neutropenia 3 alt_id: MIM:610738 def: "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. (DO)" [PMID:17187068 "DO", PMID:21108402 "DO"] synonym: "autosomal dominant or sporadic congenital neutropenia" EXACT [] synonym: "congenital agranulocytosis" EXACT [] synonym: "infantile agranulocytosis" EXACT [] synonym: "infantile genetic agranulocytosis" EXACT [] synonym: "Kostmann's agranulocytosis" EXACT [] synonym: "Kostmann's syndrome" EXACT [] synonym: "Kostmann disease" EXACT [] synonym: "Kostmann syndrome" EXACT [] synonym: "SCN3" EXACT [] synonym: "severe congenital neutropenia 3, autosomal recessive" EXACT [] synonym: "severe infantile genetic neutropenia" BROAD [] xref: GARD:302 xref: MESH:C537592 xref: ORDO:99749 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112134 name: severe congenital neutropenia 6 def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. (DO)" [PMID:25129144 "DO"] synonym: "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" EXACT [] synonym: "SCN6" EXACT [] synonym: "severe congenital neutropenia 6, autosomal recessive" EXACT [] xref: MIM:616022 xref: ORDO:423384 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112135 name: severe congenital neutropenia 8 def: "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. (DO)" [PMID:28972538 "DO"] synonym: "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" EXACT [] synonym: "SCN8" EXACT [] synonym: "SDSL" EXACT [] synonym: "severe congenital neutropenia 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities" EXACT [] synonym: "severe congenital neutropenia, autosomal dominant 8" EXACT [] synonym: "Shwachman-Diamond syndrome-like" EXACT [] synonym: "SRP54-related condition" BROAD [] xref: MIM:618752 xref: MONDO:0032899 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112136 name: severe congenital neutropenia 4 alt_id: MIM:612541 def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. (DO)" [PMID:19118303 "DO"] synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT [] synonym: "G6PC3-RELATED CONDITION" EXACT [] synonym: "SCN4" EXACT [] synonym: "severe congenital neutropenia, autosomal recessive 4" EXACT [] synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [] xref: MESH:C567260 xref: ORDO:331176 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-19T15:06:42Z [Term] id: DOID:0112137 name: combined oxidative phosphorylation deficiency 51 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. (DO)" [PMID:30607703 "DO"] synonym: "COXPD51" EXACT [] xref: MIM:619057 xref: MONDO:0033631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112138 name: primary coenzyme Q10 deficiency 9 def: "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. (DO)" [PMID:29044765 "DO"] synonym: "COQ10D9" EXACT [] synonym: "COQ5-related condition" BROAD [] xref: MIM:619028 xref: MONDO:0033615 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112139 name: nuclear type mitochondrial complex I deficiency 35 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. (DO)" [PMID:28040730 "DO"] synonym: "MC1DN35" EXACT [] synonym: "NDUFB10-related condition" EXACT [] xref: MIM:619003 xref: MONDO:0033560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0112140 name: retinitis pigmentosa 83 def: "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. (DO)" [PMID:30932721 "DO"] synonym: "ARL3-RELATED CONDITION" BROAD [] synonym: "RP83" EXACT [] xref: MIM:618173 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112141 name: retinitis pigmentosa 84 def: "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. (DO)" [PMID:24737827 "DO", PMID:30208423 "DO"] synonym: "DHX38-RELATED CONDITION" EXACT [] synonym: "RP84" EXACT [] xref: MIM:618220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112142 name: retinitis pigmentosa 85 def: "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. (DO)" [PMID:29726989 "DO"] synonym: "AHR-related condition" BROAD [] synonym: "RP85" EXACT [] xref: MIM:618345 xref: MONDO:0032689 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112143 name: retinitis pigmentosa 86 def: "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. (DO)" [PMID:30120214 "DO"] synonym: "KIAA1549-related condition" BROAD [] synonym: "RP86" EXACT [] xref: MIM:618613 xref: MONDO:0032834 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112144 name: retinitis pigmentosa 87 def: "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. (DO)" [PMID:27307694 "DO", PMID:30628748 "DO"] synonym: "retinitis pigmentosa 87 with choroidal involvement" EXACT [] synonym: "RP87" EXACT [] xref: MIM:618697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112145 name: retinitis pigmentosa 88 def: "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. (DO)" [PMID:30025130 "DO", PMID:31236346 "DO", PMID:31833436 "DO"] synonym: "RP1L1-RELATED CONDITION" BROAD [] synonym: "RP88" EXACT [] xref: MIM:618826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112146 name: retinitis pigmentosa 89 def: "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. (DO)" [PMID:32386558 "DO"] synonym: "RP89" EXACT [] xref: MIM:618955 xref: MONDO:0030071 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112147 name: retinitis pigmentosa 90 def: "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. (DO)" [PMID:28412069 "DO"] synonym: "IDH3A-RELATED CONDITION" EXACT [] synonym: "RP90" EXACT [] xref: MIM:619007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112148 name: Uruguay faciocardiomusculoskeletal syndrome alt_id: MIM:300280 def: "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. (DO)" [PMID:11102932 "DO", PMID:26933038 "DO"] synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" EXACT [] synonym: "FCMSU" EXACT [] xref: MESH:C564544 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112149 name: terminal osseous dysplasia def: "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. (DO)" [PMID:20598277 "DO"] synonym: "digital osseous dysplasia with facial pigmentary defects and multiple frenula" EXACT [] synonym: "ODPD" EXACT [] synonym: "ODPF" EXACT [] synonym: "ODPF syndrome" EXACT [] synonym: "terminal osseous dysplasia and pigmentary defects" EXACT [] synonym: "terminal osseous dysplasia-pigmentary defects syndrome" EXACT [] synonym: "TOD" EXACT [] synonym: "TODPD" EXACT [] xref: MESH:C564554 xref: MIM:300244 xref: MONDO:0010279 xref: ORDO:88630 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112150 name: X-linked spondyloepimetaphyseal dysplasia alt_id: MIM:300106 def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (DO)" [PMID:27236923 "DO", PMID:8064814 "DO"] synonym: "BGN-RELATED CONDITION" BROAD [] synonym: "SEMDX" EXACT [] synonym: "SEMD, X-Linked" EXACT [] xref: GARD:4979 xref: MESH:C564714 xref: NCI:C188996 xref: ORDO:93349 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: mtutaj creation_date: 2020-11-04T00:00:00Z [Term] id: DOID:0112151 name: corpus callosum agenesis-abnormal genitalia syndrome def: "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)" [PMID:14722918 "DO", PMID:1605226 "DO"] synonym: "ACC-abnormal genitalia syndrome" EXACT [] synonym: "ACC with abnormal genitalia" EXACT [] synonym: "agenesis of corpus callosum with abnormal genitalia" EXACT [] synonym: "corpus callosum agenesis with abnormal genitalia" EXACT [] synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [] synonym: "Proud-Levine-Carpenter syndrome" EXACT [] synonym: "Proud syndrome" EXACT [] xref: GARD:4528 xref: MESH:C563110 xref: MIM:300004 xref: MONDO:0010224 xref: ORDO:2508 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: mtutaj creation_date: 2020-11-04T00:00:00Z [Term] id: DOID:0112152 name: CHIME syndrome def: "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. (DO)" [PMID:22444671 "DO"] synonym: "CHIME" EXACT [] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome" EXACT [] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies (CHIME) syndrome" EXACT [] synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" EXACT [] synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 5" EXACT [] synonym: "GPIBD5" EXACT [] synonym: "neuroectodermal dysplasia, CHIME type" EXACT [] synonym: "neuroectodermal syndrome, Zunich type" EXACT [] synonym: "PIGL-CDG" EXACT [] synonym: "PIGL-related condition" BROAD [] synonym: "Zunich-Kaye syndrome" EXACT [] synonym: "Zunich neuroectodermal syndrome" EXACT [] xref: GARD:310 xref: MESH:C536729 xref: MIM:280000 xref: MONDO:0010221 xref: ORDO:3474 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:1682 ! congenital heart disease is_a: DOID:1697 ! ichthyosis is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9003483 ! Conductive Hearing Loss created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112153 name: hypomyelinating leukodystrophy 20 def: "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. (DO)" [PMID:32128616 "DO"] synonym: "CNP-RELATED CONDITION" EXACT [] synonym: "HLD20" EXACT [] xref: MIM:619071 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2020-07-31T11:45:15Z [Term] id: DOID:0112154 name: inflammatory bowel disease 30 def: "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. (DO)" [PMID:29408806 "DO"] synonym: "CARD8-RELATED CONDITION" EXACT [] synonym: "IBD30" EXACT [] synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [] xref: MIM:619079 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112155 name: inflammatory bowel disease 29 def: "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. (DO)" [PMID:29420262 "DO"] synonym: "IBD29" EXACT [] xref: MIM:618077 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112156 name: X-linked dyserythropoietic anemia def: "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)" [PMID:16783379 "DO", PMID:22706301 "DO"] synonym: "XLANP" EXACT [] synonym: "X-linked anemia with/without neutropenia and/or platelet abnormalities" EXACT [] synonym: "X-linked anemia with or without neutropenia and/or platelet abnormalities" EXACT [] synonym: "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" EXACT [] xref: MIM:300835 xref: MONDO:0010444 xref: ORDO:363727 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1227 ! neutropenia is_a: DOID:2218 ! blood platelet disease is_a: DOID:2355 ! anemia created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112157 name: X-linked atrophic macular degeneration def: "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. (DO)" [PMID:12160730 "DO"] xref: MIM:300834 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9001007 ! X-Linked Macular Dystrophy created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112158 name: De Sanctis-Cacchione syndrome def: "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)" [PMID:10767341 "DO", PMID:2168777 "DO", PMID:28491977 "DO"] synonym: "Desanctis-Cacchione Syndrome" EXACT [] synonym: "xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia" EXACT [] synonym: "xeroderma pigmentosum with neurologic manifestation" EXACT [] synonym: "xerodermic idiocy of de Sanctis and Cacchione" EXACT [] xref: GARD:8276 xref: MESH:C535992 xref: MIM:278800 xref: MONDO:0010217 xref: NCI:C84666 xref: ORDO:1569 is_a: DOID:0050427 ! xeroderma pigmentosum is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112159 name: autosomal dominant nonsyndromic deafness 78 def: "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. (DO)" [PMID:32294086 "DO"] synonym: "autosomal dominant deafness 78" EXACT [] synonym: "DFNA78" EXACT [] xref: MIM:619081 xref: MONDO:0033665 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112160 name: autosomal dominant nonsyndromic deafness 79 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. (DO)" [PMID:31972369 "DO"] synonym: "autosomal dominant deafness 79" EXACT [] synonym: "DFNA79" EXACT [] xref: MIM:619086 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-07-31T11:55:23Z [Term] id: DOID:0112161 name: Noonan syndrome 13 def: "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. (DO)" [PMID:32721402 "DO"] synonym: "MAPK1-RELATED CONDITION" EXACT [] synonym: "NS13" EXACT [] xref: MIM:619087 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112162 name: autosomal recessive nonsyndromic deafness 116 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. (DO)" [PMID:31175426 "DO"] synonym: "autosomal recessive deafness 116" EXACT [] synonym: "CLDN9-RELATED CONDITION" EXACT [] synonym: "DFNB116" EXACT [] xref: MIM:619093 xref: MONDO:0033670 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2019-02-13T14:54:42Z [Term] id: DOID:0112163 name: spermatogenic failure 45 def: "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. (DO)" [PMID:30811583 "DO"] synonym: "DNAH2-RELATED CONDITION" EXACT [] synonym: "SPGF45" EXACT [] xref: MIM:619094 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112164 name: spermatogenic failure 46 def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. (DO)" [PMID:32619401 "DO", PMID:32681648 "DO"] synonym: "DNAH8-RELATED CONDITION" EXACT [] synonym: "SPGF46" EXACT [] xref: MIM:619095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-02-12T10:11:43Z [Term] id: DOID:0112165 name: autosomal dominant nonsyndromic deafness 74 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. (DO)" [PMID:29860631 "DO"] synonym: "autosomal dominant deafness 74" EXACT [] synonym: "DFNA74" EXACT [] synonym: "PDE1C-related condition" BROAD [] xref: MIM:618140 xref: MONDO:0029137 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-09-04T13:40:09Z [Term] id: DOID:0112166 name: autosomal dominant nonsyndromic deafness 75 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. (DO)" [PMID:31231791 "DO"] synonym: "autosomal dominant deafness 75" EXACT [] synonym: "DFNA75" EXACT [] synonym: "TRRAP-RELATED CONDITION" BROAD [] synonym: "TRRAP-RELATED DISORDER" BROAD [] xref: MIM:618778 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112167 name: autosomal dominant nonsyndromic deafness 76 def: "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (DO)" [PMID:30872814 "DO", PMID:31397523 "DO", PMID:31432506 "DO"] synonym: "autosomal dominant deafness 76" EXACT [] synonym: "DFNA76" EXACT [] synonym: "PLS1-RELATED CONDITION" EXACT [] xref: MIM:618787 xref: MONDO:0032917 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2019-02-13T13:19:12Z [Term] id: DOID:0112168 name: autosomal dominant nonsyndromic deafness 77 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. (DO)" [PMID:31273342 "DO"] synonym: "ABCC1-RELATED CONDITION" EXACT [] synonym: "autosomal dominant deafness 77" EXACT [] synonym: "DFNA77" EXACT [] xref: MIM:618915 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2019-10-04T10:38:35Z [Term] id: DOID:0112169 name: Noonan syndrome 11 def: "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. (DO)" [PMID:28289718 "DO"] synonym: "MRAS-RELATED CONDITION" EXACT [] synonym: "NS11" EXACT [] xref: MIM:618499 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2020-09-29T09:38:19Z [Term] id: DOID:0112170 name: Noonan syndrome 12 def: "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. (DO)" [PMID:31130282 "DO", PMID:31130285 "DO"] synonym: "NS12" EXACT [] synonym: "RRAS2-RELATED CONDITION" EXACT [] xref: MIM:618624 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2019-02-08T15:18:56Z [Term] id: DOID:0112171 name: wrinkly skin syndrome def: "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5200/ "DO", PMID:18157129 "DO", PMID:4765201 "DO"] synonym: "WSS" EXACT [] xref: GARD:273 xref: MESH:C536750 xref: MIM:278250 xref: MONDO:0010208 xref: ORDO:2834 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:3144 ! cutis laxa created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112172 name: hereditary combined deficiency of vitamin K-dependent clotting factors def: "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. (DO)" [PMID:20630065 "DO"] synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [] xref: ORDO:98434 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112173 name: combined deficiency of vitamin K-dependent clotting factors 1 alt_id: MIM:277450 def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. (DO)" [PMID:9845520 "DO"] synonym: "Factors II, VII, IX, And X, Combined Deficiency Of" EXACT [] synonym: "Familial Multiple Coagulation Factor Deficiency III" EXACT [] synonym: "FMFD III" EXACT [] synonym: "GGCX-RELATED CONDITION" BROAD [] synonym: "GGCX - RELATED DISORDERS" BROAD [] synonym: "Glutamic Acid, Deficient Gamma-Carboxylation Of" EXACT [] synonym: "MCFD3" EXACT [] synonym: "Multiple Coagulation Factor Deficiency III" EXACT [] synonym: "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1" EXACT [] synonym: "Vitamin K-Dependent Coagulation Defect" EXACT [] synonym: "VKCFD" EXACT [] synonym: "VKCFD1" EXACT [] xref: MESH:C564741 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112174 name: combined deficiency of vitamin K-dependent clotting factors 2 alt_id: MIM:607473 def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. (DO)" [PMID:14765194 "DO"] synonym: "combined deficiency of vitamin K-dependent clotting factors, type 2" EXACT [] synonym: "VKCFD2" EXACT [] xref: MESH:C564393 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors is_a: DOID:9004931 ! Coagulation Protein Disorders created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112175 name: spermatogenic failure 47 def: "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. (DO)" [PMID:32051257 "DO"] synonym: "SPGF47" EXACT [] xref: MIM:619102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-02-08T16:24:01Z [Term] id: DOID:0112176 name: spermatogenic failure 48 def: "A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. (DO)" [PMID:32017041 "DO", PMID:32673564 "DO"] synonym: "M1AP-related condition" EXACT [] synonym: "SPGF48" EXACT [] xref: MIM:619108 xref: MONDO:0030846 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0112177 name: Mayer-Rokitansky-Kuster-Hauser syndrome def: "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. (DO)" [PMID:32819397 "DO"] synonym: "APLASIA OF THE UTERUS" NARROW [] synonym: "CAUV UROGENITAL ADYSPLASIA" NARROW [] synonym: "MRK anomaly" EXACT [] synonym: "MRKH anomaly" EXACT [] synonym: "MRKH syndrome" EXACT [] synonym: "Mullerian Aplasia" EXACT [] synonym: "MULLERIAN APLASIA/DYSGENESIS" EXACT [] synonym: "Mullerian duct failure" EXACT [] synonym: "RKH syndrome" EXACT [] synonym: "Rokitansky Kuster Hauser syndrome" EXACT [] synonym: "Rokitansky syndrome" EXACT [] synonym: "UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA" EXACT [] synonym: "von Mayer-Rokitansky-Kuster anomaly" EXACT [] xref: MESH:C537371 xref: NCI:C124853 xref: ORDO:3109 is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9005851 ! 46, XX Disorders of Sex Development created_by: mtutaj creation_date: 2020-12-22T14:53:11Z [Term] id: DOID:0112178 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1 def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. (DO)" [PMID:16691591 "DO"] synonym: "congenital absence of uterus and vagina" EXACT [] synonym: "MRKH syndrome type 1" EXACT [] synonym: "Rokitansky sequence" EXACT [] xref: MIM:277000 xref: MONDO:0010173 xref: ORDO:247775 is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome created_by: mtutaj creation_date: 2020-12-22T14:59:11Z [Term] id: DOID:0112179 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 2 def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. (DO)" [PMID:469663 "DO"] synonym: "atypical MRKH syndrome" EXACT [] synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" EXACT [] synonym: "Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II" EXACT [] synonym: "MRKH syndrome type 2" EXACT [] synonym: "MRKH, Type II" EXACT [] synonym: "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [] synonym: "Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies" EXACT [] synonym: "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia" EXACT [] synonym: "MURCS" EXACT [] synonym: "MURCS association" EXACT [] xref: MIM:601076 xref: ORDO:2578 is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome created_by: mtutaj creation_date: 2020-09-04T13:10:00Z [Term] id: DOID:0112180 name: urocanase deficiency def: "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. (DO)" [PMID:19304569 "DO", PMID:6107814 "DO"] synonym: "encephalopathy due to urocanase deficiency" EXACT [] synonym: "high urine urocanic acid levels" EXACT [] synonym: "UROC1-related condition" BROAD [] synonym: "urocanate hydratase deficiency" EXACT [] synonym: "urocanic aciduria" EXACT [] synonym: "UROCD" EXACT [] xref: GARD:8539 xref: MESH:C536479 xref: MIM:276880 xref: MONDO:0010167 xref: ORDO:210128 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9265 ! histidine metabolism disease created_by: mtutaj creation_date: 2019-02-13T12:31:20Z [Term] id: DOID:0112181 name: Schinzel type phocomelia def: "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (DO)" [PMID:16826533 "DO", PMID:20949531 "DO"] synonym: "AARRS" EXACT [] synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" EXACT [] synonym: "Al-Awadi-Raas-Rothschild Syndrome" EXACT [] synonym: "Al Awadi Rass Rothschild syndrome" EXACT [] synonym: "Al Awadi Syndrome" EXACT [] synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [] synonym: "congenital absence of ulna and fibula" EXACT [] synonym: "Limb-Pelvis Hypoplasia-Aplasia syndrome" EXACT [] synonym: "LPHAS" EXACT [] synonym: "Schinzel phocomelia syndrome" EXACT [] synonym: "severe limb deficit" EXACT [] synonym: "Ulna and fibula absence of with severe limb deficiency" EXACT [] synonym: "WNT7A-related condition" BROAD [] xref: GARD:9212 xref: MESH:C535612 xref: MIM:276820 xref: MONDO:0010164 xref: ORDO:2879 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13938 ! amenorrhea is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia created_by: mtutaj creation_date: 2020-07-17T13:04:05Z [Term] id: DOID:0112182 name: mismatch repair cancer syndrome def: "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. (DO)" [PMID:24737826 "DO", PMID:7661930 "DO"] synonym: "childhood cancer syndrome" EXACT [] synonym: "CMMRDS" EXACT [] synonym: "CMMR-D syndrome" EXACT [] synonym: "CNS tumors with Familial polyposis of the colon" EXACT [] synonym: "CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME" EXACT [] synonym: "mismatch repair cancer syndromes" EXACT [] synonym: "mismatch repair deficiency" EXACT [] synonym: "MMRCS" EXACT [] synonym: "MMR deficiency" EXACT [] synonym: "Turcot syndrome" EXACT [] xref: MESH:C536928 xref: MIM:PS276300 xref: NCI:C3938 xref: ORDO:252202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9007502 ! Brain Neoplasms is_a: DOID:9008443 ! Colorectal Neoplasms created_by: mtutaj creation_date: 2019-03-05T08:16:37Z [Term] id: DOID:0112183 name: familial thyroid dyshormonogenesis def: "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. (DO)" [PMID:15863666 "DO"] synonym: "dyshormogenetic goiter" EXACT [] synonym: "thyroid dyshormonogenesis" EXACT [] synonym: "thyroid hormonogenesis defect" EXACT [] xref: MIM:PS274400 xref: MONDO:0010132 xref: ORDO:95716 is_a: DOID:0050328 ! congenital hypothyroidism created_by: mtutaj creation_date: 2020-12-22T15:35:11Z [Term] id: DOID:0112184 name: thyroid dyshormonogenesis 5 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. (DO)" [PMID:18042646 "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis, 5" EXACT [] synonym: "DUOXA2-related condition" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 5" EXACT [] synonym: "TDH5" EXACT [] xref: MESH:C562771 xref: MIM:274900 xref: MONDO:0010137 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-12-22T15:31:11Z [Term] id: DOID:0112185 name: thyroid dyshormonogenesis 1 alt_id: MIM:274400 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. (DO)" [PMID:9171822 "DO"] synonym: "genetic defect in thyroid hormonogenesis 1" EXACT [] synonym: "Hypothyroidism, Congenital, due to Dyshormonogenesis, 1" EXACT [] synonym: "iodide accumulation, transport, or trapping defect" EXACT [] synonym: "iodine accumulation, transport, or trapping defect" EXACT [] synonym: "SLC5A5-RELATED CONDITION" EXACT [] synonym: "TDH1" EXACT [] xref: MESH:C564766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-12-22T15:35:11Z [Term] id: DOID:0112186 name: thyroid dyshormonogenesis 2A alt_id: MIM:274500 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. (DO)" [PMID:1401057 "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis 2A" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 2A" EXACT [] synonym: "iodide peroxidase deficiency" EXACT [] synonym: "TDH2A" EXACT [] synonym: "thyroid peroxidase deficiency" EXACT [] synonym: "TPO-RELATED CONDITION" EXACT [] xref: MESH:C563206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-10-13T08:05:17Z [Term] id: DOID:0112187 name: thyroid dyshormonogenesis 3 alt_id: MIM:274700 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. (DO)" [PMID:17244789 "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis 3" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 3" EXACT [] synonym: "TDH3" EXACT [] synonym: "TG-RELATED CONDITION" BROAD [] synonym: "TG-RELATED DISORDERS" BROAD [] xref: MESH:C562769 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-12-22T15:47:11Z [Term] id: DOID:0112188 name: thyroid dyshormonogenesis 4 alt_id: MIM:274800 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. (DO)" [PMID:18434651 "DO"] synonym: "Deiodinase Deficiency" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 4" EXACT [] synonym: "Hypothyroidism, Congenital, due to Dyshormonogenesis, 4" EXACT [] synonym: "iodotyrosine dehalogenase deficiency" EXACT [] synonym: "IYD-RELATED CONDITION" EXACT [] synonym: "TDH4" EXACT [] xref: MESH:C562770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: rgd creation_date: 2017-04-18T00:00:00Z [Term] id: DOID:0112189 name: thyroid dyshormonogenesis 6 alt_id: MIM:607200 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. (DO)" [PMID:12110737 "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis 6" EXACT [] synonym: "DUOX2-RELATED CONDITION" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 6" EXACT [] synonym: "nongoitrous euthyroid hyperthyrotropinemia" NARROW [] synonym: "TDH6" EXACT [] xref: MESH:C564608 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2019-12-16T09:44:40Z [Term] id: DOID:0112190 name: distal arthrogryposis type 1C def: "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. (DO)" [PMID:32707087 "DO"] synonym: "DA1C" EXACT [] xref: MIM:619110 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0111596 ! distal arthrogryposis type 1 created_by: mtutaj creation_date: 2020-07-07T07:39:50Z [Term] id: DOID:0112191 name: tetraamelia syndrome alt_id: DOID:9000993 def: "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. (DO)" [https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/ "DO", PMID:16283889 "DO"] synonym: "TETAMS" EXACT [] synonym: "Tetra-Amelia" EXACT [] synonym: "Tetraamelia Multiple Malformations" EXACT [] synonym: "tetraamelia-multiple malformations syndrome" EXACT [] synonym: "Tetra-Amelia Syndrome" EXACT [] synonym: "Zimmer phocomelia" EXACT [] synonym: "Zimmer Taub Sova syndrome" EXACT [] xref: GARD:386 xref: MESH:C536500 xref: MIM:PS273395 xref: MONDO:0010110 xref: ORDO:3301 is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-12-22T16:00:00Z [Term] id: DOID:0112192 name: tetraamelia syndrome 1 alt_id: MIM:273395 def: "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. (DO)" [PMID:14872406 "DO"] synonym: "TETAMS1" EXACT [] synonym: "Tetra-Amelia Autosomal Recessive" EXACT [] synonym: "Tetraamelia, Autosomal Recessive" EXACT [] synonym: "tetra-amelia syndrome 1" EXACT [] synonym: "tetraamelia syndrome, autosomal recessive" EXACT [] synonym: "WNT3-RELATED CONDITION" EXACT [] xref: GARD:5148 xref: MESH:C536498 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112191 ! tetraamelia syndrome created_by: mtutaj creation_date: 2020-12-22T16:10:11Z [Term] id: DOID:0112193 name: tetraamelia syndrome 2 alt_id: MIM:618021 def: "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. (DO)" [PMID:16283889 "DO", PMID:29769720 "DO"] synonym: "absence of upper and lower limbs with pulmonary hypoplasia" EXACT [] synonym: "RSPO2-RELATED CONDITION" BROAD [] synonym: "syndrome of tetraamelia with pulmonary hypoplasia" EXACT [] synonym: "TETAMS2" EXACT [] synonym: "tetraamelia syndrome 2 with pulmonary agenesis" EXACT [] synonym: "tetra-amelia with pulmonary hypoplasia" EXACT [] synonym: "tetraamelia with pulmonary hypoplasia" EXACT [] xref: GARD:5147 xref: MESH:C536499 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112191 ! tetraamelia syndrome is_a: DOID:9000096 ! Lung Agenesis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0112194 name: Filippi syndrome def: "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (DO)" [PMID:18553552 "DO", PMID:25439729 "DO"] synonym: "CKAP2L-related condition" BROAD [] synonym: "craniodigital syndrome-mental retardation, Scott type" EXACT [] synonym: "craniodigital syndrome with mental retardation" EXACT [] synonym: "FLPIS" EXACT [] synonym: "Scott-Bryant-Graham syndrome" EXACT [] synonym: "Scott craniodigital syndrome with mental retardation" EXACT [] synonym: "syndactyly type I with microcephaly and mental retardation" EXACT [] synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [] xref: GARD:62 xref: MESH:C537528 xref: MESH:C538152 xref: MIM:272440 xref: MONDO:0010092 xref: ORDO:3255 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-12-22T16:17:11Z [Term] id: DOID:0112195 name: spondyloperipheral dysplasia alt_id: MIM:271700 def: "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [PMID:15316962 "DO", PMID:8723097 "DO"] synonym: "familial spondyloepiphyseal dysplasia" EXACT [] synonym: "spondyloperipheral dysplasia, short ulna" EXACT [] synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [] synonym: "spondyloperipheral dysplasia with short ulna" EXACT [] xref: MESH:C535799 xref: NCI:C135088 xref: ORDO:1856 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2020-11-06T09:20:20Z [Term] id: DOID:0112196 name: spondylometaepiphyseal dysplasia, short limb-hand type def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. (DO)" [PMID:31406622 "DO", PMID:8434618 "DO"] synonym: "DDR2-RELATED CONDITION" BROAD [] synonym: "SMED, Short Limb-Abnormal Calcification Type" EXACT [] synonym: "SMED, Short Limb-Hand Type" EXACT [] synonym: "SMED-SL" EXACT [] synonym: "SMED-SL/AC" EXACT [] synonym: "SMED type 2" EXACT [] synonym: "SMED Type II" EXACT [] synonym: "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" EXACT [] synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" EXACT [] xref: GARD:10616 xref: MESH:C564794 xref: MIM:271665 xref: MONDO:0010077 xref: ORDO:93358 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2020-12-22T18:19:11Z [Term] id: DOID:0112197 name: spondyloepimetaphyseal dysplasia with joint laxity def: "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. (DO)" [PMID:30358852 "DO"] synonym: "PRIMARY BONE DYSPLASIA WITH MULTIPLE JOINT DISLOCATIONS" EXACT [] synonym: "SEMDJL" EXACT [] xref: GARD:4982 xref: MESH:C562968 xref: MIM:PS271640 xref: ORDO:93359 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9005077 ! Joint Instability created_by: mtutaj creation_date: 2020-12-22T18:24:11Z [Term] id: DOID:0112198 name: spondyloepimetaphyseal dysplasia with joint laxity type 1 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. (DO)" [PMID:10482874 "DO"] synonym: "SEMDJL1" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1, with fractures" NARROW [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures" EXACT [] xref: MIM:271640 xref: MONDO:0010075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity created_by: mtutaj creation_date: 2020-12-22T18:29:11Z [Term] id: DOID:0112199 name: spondyloepimetaphyseal dysplasia with joint laxity type 2 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. (DO)" [PMID:19277648 "DO", PMID:22152677 "DO"] synonym: "KIF22-RELATED CONDITION" EXACT [] synonym: "SEMDJL2" EXACT [] synonym: "SEMD-MD" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type" EXACT [] xref: MESH:C535784 xref: MIM:603546 xref: MONDO:0011335 xref: NCI:C125419 xref: ORDO:93360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity created_by: mtutaj creation_date: 2020-11-10T14:09:01Z [Term] id: DOID:0112200 name: spondyloepimetaphyseal dysplasia with joint laxity type 3 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. (DO)" [PMID:26669664 "DO"] synonym: "EXOC6B-RELATED CONDITION" EXACT [] synonym: "SEMDJL3" EXACT [] xref: MIM:618395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity created_by: mtutaj creation_date: 2020-03-11T07:29:20Z [Term] id: DOID:0112201 name: osteogenesis imperfecta type 21 def: "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. (DO)" [PMID:33053334 "DO"] synonym: "OI21" EXACT [] synonym: "osteogenesis imperfecta type XXI" EXACT [] xref: MIM:619131 xref: MONDO:0030861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta created_by: rgd creation_date: 2017-10-19T15:03:51Z [Term] id: DOID:0112202 name: developmental and epileptic encephalopathy def: "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)" [PMID:28276062 "DO", PMID:31926847 "DO"] synonym: "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY" NARROW [] synonym: "KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" NARROW [] synonym: "RYR3-RELATED CONDITION" BROAD [] synonym: "RYR3-RELATED EPILEPTIC ENCEPHALOPATHY" NARROW [] synonym: "TMEM63B-ASSOCIATED DISORDER" BROAD [] xref: MIM:PS308350 is_a: DOID:0050701 ! electroclinical syndrome created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112203 name: developmental and epileptic encephalopathy 67 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. (DO)" [PMID:29630738 "DO"] synonym: "CUX2-RELATED CONDITION" EXACT [] synonym: "DEE67" EXACT [] synonym: "early infantile epileptic encephalopathy 67" EXACT [] synonym: "EIEE67" EXACT [] xref: MIM:618141 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: slaulede creation_date: 2018-10-11T10:53:07Z [Term] id: DOID:0112204 name: developmental and epileptic encephalopathy 68 def: "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. (DO)" [PMID:28364549 "DO"] synonym: "DEE68" EXACT [] synonym: "early infantile epileptic encephalopathy 68" EXACT [] synonym: "EIEE68" EXACT [] synonym: "TRAK1-RELATED CONDITION" EXACT [] xref: MIM:618201 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112205 name: developmental and epileptic encephalopathy 69 def: "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. (DO)" [PMID:30343943 "DO"] synonym: "CACNA1E-RELATED CONDITION" EXACT [] synonym: "DEE69" EXACT [] synonym: "early infantile epileptic encephalopathy 69" EXACT [] synonym: "EIEE69" EXACT [] xref: MIM:618285 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2020-08-17T09:48:43Z [Term] id: DOID:0112206 name: developmental and epileptic encephalopathy 70 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. (DO)" [PMID:30256902 "DO"] synonym: "DEE70" EXACT [] synonym: "early infantile epileptic encephalopathy 70" EXACT [] synonym: "EIEE70" EXACT [] synonym: "PHACTR1-related condition" EXACT [] xref: MIM:618298 xref: MONDO:0032663 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112207 name: developmental and epileptic encephalopathy 71 def: "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. (DO)" [PMID:30575854 "DO"] synonym: "DEE71" EXACT [] synonym: "early infantile epileptic encephalopathy 71" EXACT [] synonym: "EIEE71" EXACT [] synonym: "glutaminase deficiency with neonatal epileptic encephalopathy" EXACT [] xref: MIM:618328 xref: MONDO:0032678 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:11161 ! neonatal respiratory failure created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112208 name: developmental and epileptic encephalopathy 72 def: "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. (DO)" [PMID:30323019 "DO"] synonym: "DEE72" EXACT [] synonym: "early infantile epileptic encephalopathy 72" EXACT [] synonym: "EIEE72" EXACT [] synonym: "NEUROD2-RELATED CONDITION" EXACT [] xref: MIM:618374 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112209 name: developmental and epileptic encephalopathy 73 def: "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. (DO)" [PMID:30595371 "DO"] synonym: "DEE73" EXACT [] synonym: "early infantile epileptic encephalopathy 73" EXACT [] synonym: "EIEE73" EXACT [] synonym: "RNF13-RELATED CONDITION" EXACT [] xref: MIM:618379 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112210 name: developmental and epileptic encephalopathy 74 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)" [PMID:27864268 "DO"] synonym: "DEE74" EXACT [] synonym: "early infantile epileptic encephalopathy 74" EXACT [] synonym: "EIEE74" EXACT [] synonym: "GABRG2-related condition" BROAD [] xref: MIM:618396 xref: MONDO:0032725 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112211 name: developmental and epileptic encephalopathy 75 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. (DO)" [PMID:29915213 "DO"] synonym: "DEE75" EXACT [] synonym: "early infantile epileptic encephalopathy 75" EXACT [] synonym: "EIEE75" EXACT [] synonym: "PARS2-RELATED CONDITION" EXACT [] xref: MIM:618437 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:31:00Z [Term] id: DOID:0112212 name: developmental and epileptic encephalopathy 76 def: "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. (DO)" [PMID:31031012 "DO"] synonym: "ACTL6B-related bafopathy" BROAD [] synonym: "ACTL6B-related condition" BROAD [] synonym: "ACTL6B-RELATED RECESSIVE EPILEPSY" EXACT [] synonym: "DECAM" EXACT [] synonym: "DEE76" EXACT [] synonym: "developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination" EXACT [] synonym: "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination" EXACT [] synonym: "early infantile epileptic encephalopathy 76" EXACT [] synonym: "EIEE76" EXACT [] xref: MIM:618468 xref: MONDO:0032768 xref: NCI:C179296 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:34:11Z [Term] id: DOID:0112213 name: multiple congenital anomalies-hypotonia-seizures syndrome 4 def: "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (DO)" [PMID:31148362 "DO", PMID:32588908 "DO"] synonym: "DEE77" EXACT [] synonym: "developmental and epileptic encephalopathy 77" EXACT [] synonym: "early infantile epileptic encephalopathy 77" EXACT [] synonym: "EIEE77" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 19" EXACT [] synonym: "GPIBD19" EXACT [] synonym: "MCAHS4" EXACT [] synonym: "PIGQ-RELATED CONDITION" EXACT [] xref: MIM:618548 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2021-01-28T21:39:11Z [Term] id: DOID:0112214 name: developmental and epileptic encephalopathy 78 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. (DO)" [PMID:29422393 "DO", PMID:29961870 "DO"] synonym: "DEE78" EXACT [] synonym: "early infantile epileptic encephalopathy 78" EXACT [] synonym: "EIEE78" EXACT [] synonym: "GABRA2-RELATED CONDITION" BROAD [] xref: MIM:618557 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:44:11Z [Term] id: DOID:0112215 name: developmental and epileptic encephalopathy 79 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (DO)" [PMID:29961870 "DO", PMID:31056671 "DO"] synonym: "DEE79" EXACT [] synonym: "early infantile epileptic encephalopathy 79" EXACT [] synonym: "EIEE79" EXACT [] synonym: "GABRA5-RELATED CONDITION" EXACT [] xref: MIM:618559 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:48:11Z [Term] id: DOID:0112216 name: developmental and epileptic encephalopathy 80 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. (DO)" [PMID:31256876 "DO"] synonym: "DEE80" EXACT [] synonym: "early infantile epileptic encephalopathy 80" EXACT [] synonym: "EIEE80" EXACT [] synonym: "glycophosphatidylinositol biosynthesis defect 20" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 20" EXACT [] synonym: "GPIBD20" EXACT [] synonym: "PIGB-RELATED CONDITION" EXACT [] xref: MIM:618580 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2021-01-28T21:52:11Z [Term] id: DOID:0112217 name: developmental and epileptic encephalopathy 81 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. (DO)" [PMID:30237576 "DO", PMID:31688942 "DO"] synonym: "DEE81" EXACT [] synonym: "early infantile epileptic encephalopathy 81" EXACT [] synonym: "EIEE81" EXACT [] xref: MIM:618663 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:56:11Z [Term] id: DOID:0112218 name: developmental and epileptic encephalopathy 83 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. (DO)" [PMID:31820119 "DO"] synonym: "Barakat-Perenthaler syndrome" EXACT [] synonym: "DEE83" EXACT [] synonym: "early infantile epileptic encephalopathy 83" EXACT [] synonym: "EIEE83" EXACT [] xref: MIM:618744 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:00:11Z [Term] id: DOID:0112219 name: developmental and epileptic encephalopathy 84 def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. (DO)" [PMID:32001716 "DO"] synonym: "DEE84" EXACT [] synonym: "early infantile epileptic encephalopathy 84" EXACT [] synonym: "EIEE84" EXACT [] synonym: "Jamuar syndrome" EXACT [] synonym: "UGDH-RELATED CONDITION" EXACT [] xref: MIM:618792 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:04:11Z [Term] id: DOID:0112220 name: developmental and epileptic encephalopathy 86 def: "A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. (DO)" [PMID:32427860 "DO"] synonym: "DEE86" EXACT [] synonym: "early infantile epileptic encephalopathy 86" EXACT [] synonym: "EIEE86" EXACT [] xref: MIM:618910 xref: MONDO:0030054 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:07:11Z [Term] id: DOID:0112221 name: developmental and epileptic encephalopathy 87 def: "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. (DO)" [PMID:32330417 "DO"] synonym: "DEE87" EXACT [] synonym: "early infantile epileptic encephalopathy 87" EXACT [] synonym: "EIEE87" EXACT [] xref: MIM:618916 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:11:11Z [Term] id: DOID:0112222 name: developmental and epileptic encephalopathy 88 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. (DO)" [PMID:31538237 "DO"] synonym: "DEE88" EXACT [] synonym: "early infantile epileptic encephalopathy 88" EXACT [] synonym: "EIEE88" EXACT [] xref: MIM:618959 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:15:11Z [Term] id: DOID:0112223 name: developmental and epileptic encephalopathy 89 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. (DO)" [PMID:32282878 "DO"] synonym: "DEE89" EXACT [] synonym: "early infantile epileptic encephalopathy 89" EXACT [] xref: MIM:619124 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:22:11Z [Term] id: DOID:0112224 name: chondrodysplasia with joint dislocations gPAPP type def: "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. (DO)" [PMID:21549340 "DO", PMID:22887726 "DO"] synonym: "BPNT2-RELATED CONDITION" EXACT [] synonym: "GPAPP deficiency" EXACT [] xref: GARD:11009 xref: MIM:614078 xref: MONDO:0013561 xref: ORDO:280586 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005077 ! Joint Instability created_by: mtutaj creation_date: 2020-01-30T13:07:42Z [Term] id: DOID:0112225 name: BH4-deficient hyperphenylalaninemia B alt_id: MIM:233910 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. (DO)" [PMID:7869202 "DO"] synonym: "DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE" NARROW [] synonym: "GTP cyclohydrolase 1 deficiency" EXACT [] synonym: "GTP Cyclohydrolase I Deficiency" EXACT [] synonym: "HPABH4B" EXACT [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia B" EXACT [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia due to GTP cyclohydrolase I deficiency" EXACT [] xref: MESH:C562656 xref: NCI:C141442 xref: ORDO:2102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria created_by: mtutaj creation_date: 2021-01-28T22:30:11Z [Term] id: DOID:0112226 name: Bosch-Boonstra-Schaaf optic atrophy syndrome alt_id: DOID:9002038 def: "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. (DO)" [PMID:24462372 "DO"] synonym: "BBSOAS" EXACT [] synonym: "Bosch-Boonstra optic atrophy syndrome" RELATED [] synonym: "NR2F1-RELATED CONDITION" EXACT [] synonym: "optic atrophy-intellectual disability syndrome" EXACT [] xref: MIM:615722 xref: ORDO:401777 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-02-18T11:48:34Z [Term] id: DOID:0112227 name: tubulinopathy def: "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", PMID:24860126 "DO", PMID:31386652 "DO"] xref: EFO:0020030 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2490 ! congenital nervous system abnormality created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0112228 name: lissencephaly 9 with complex brainstem malformation alt_id: DOID:9005346 def: "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. (DO)" [PMID:24507697 "DO", PMID:30471716 "DO"] synonym: "LIS9" EXACT [] synonym: "lissencephaly 9" EXACT [] synonym: "lissencephaly with brainstem hypoplasia" EXACT [] synonym: "lissencephaly with decussation defect" EXACT [] synonym: "MACF1-related condition" BROAD [] synonym: "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" EXACT [] synonym: "spectraplakinopathy type I" EXACT [] xref: MIM:618325 xref: MONDO:0032677 xref: ORDO:572013 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0112229 name: lissencephaly 10 alt_id: DOID:9006184 def: "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. (DO)" [PMID:32097630 "DO"] synonym: "CEP85L-RELATED CONDITION" EXACT [] synonym: "LIS10" EXACT [] xref: MIM:618873 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2021-03-29T19:36:11Z [Term] id: DOID:0112230 name: lissencephaly 5 alt_id: DOID:9004164 def: "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. (DO)" [PMID:23472759 "DO", PMID:25925986 "DO"] synonym: "LAMB1-RELATED CONDITION" EXACT [] synonym: "LIS5" EXACT [] xref: MIM:615191 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2021-03-29T19:39:11Z [Term] id: DOID:0112231 name: lissencephaly 7 with cerebellar hypoplasia alt_id: DOID:9002648 def: "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. (DO)" [PMID:25560765 "DO"] synonym: "LIS7" EXACT [] xref: MIM:616342 xref: MONDO:0014596 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070338 ! cerebellar hypoplasia created_by: mtutaj creation_date: 2021-03-29T19:42:11Z [Term] id: DOID:0112232 name: lissencephaly 3 alt_id: DOID:9000102 alt_id: MIM:611603 def: "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. (DO)" [PMID:17218254 "DO", PMID:30744660 "DO"] synonym: "LIS3" EXACT [] synonym: "LISSENCEPHALY DUE TO TUBA1A MUTATION" EXACT [] synonym: "LISSENCEPHALY TYPE 3" EXACT [] synonym: "TUBA1A-ASSOCIATED TUBULINOPATHY" EXACT [] synonym: "TUBA1A-RELATED CONDITION" EXACT [] synonym: "TUBULINOPATHIES" BROAD [] synonym: "TUBULINOPATHY" BROAD [] synonym: "TUBULINOPATHY-ASSOCIATED DYSGYRIA" EXACT [] xref: MESH:C566908 xref: NCI:C148461 xref: ORDO:171680 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly created_by: mtutaj creation_date: 2021-03-29T19:45:11Z [Term] id: DOID:0112233 name: lissencephaly 8 alt_id: DOID:9003247 def: "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. (DO)" [PMID:27773428 "DO"] synonym: "LIS8" EXACT [] synonym: "TMTC3-RELATED CONDITION" EXACT [] xref: MIM:617255 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2021-03-29T19:49:11Z [Term] id: DOID:0112234 name: microlissencephaly def: "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. (DO)" [PMID:9588537 "DO"] synonym: "microlissencephalies" EXACT [] xref: ORDO:1083 is_a: DOID:0050453 ! lissencephaly created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0112235 name: lissencephaly 4 alt_id: DOID:9008921 def: "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. (DO)" [PMID:21529751 "DO", PMID:21529752 "DO"] synonym: "LIS4" EXACT [] synonym: "lissencephaly 4 with microcephaly" EXACT [] synonym: "NDE1-RELATED CONDITION" BROAD [] xref: MIM:614019 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112234 ! microlissencephaly is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly created_by: mtutaj creation_date: 2021-03-29T20:01:11Z [Term] id: DOID:0112236 name: lissencephaly 6 alt_id: DOID:9008089 def: "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. (DO)" [PMID:25521378 "DO", PMID:25521379 "DO"] synonym: "KATNB1-RELATED CONDITION" EXACT [] synonym: "LIS6" EXACT [] synonym: "lissencephaly 6 with microcephaly" EXACT [] xref: MIM:616212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112234 ! microlissencephaly is_a: DOID:10907 ! microcephaly created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0112237 name: lissencephaly 1 def: "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3. (DO)" [PMID:11754098 "DO", PMID:12668601 "DO"] synonym: "ILS" EXACT [] synonym: "LIS1" EXACT [] synonym: "LISSENCEPHALY, CLASSIC" EXACT [] synonym: "LISSENCEPHALY SEQUENCE, ISOLATED" EXACT [] synonym: "PAFAH1B1-ASSOCIATED LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA" BROAD [] synonym: "PAFAH1B1-RELATED CONDITION" BROAD [] synonym: "PAFAH1B1-related lissencephaly" EXACT [] synonym: "SBH" RELATED [] synonym: "SCLH" RELATED [] synonym: "SUBCORTICAL BAND HETEROTOPIA" RELATED [] synonym: "SUBCORTICAL LAMINAR HETEROTOPIA" RELATED [] xref: MIM:607432 xref: ORDO:95232 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2015-06-18T00:00:00Z [Term] id: DOID:0112238 name: X-linked lissencephaly 2 alt_id: DOID:9006520 def: "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)" [PMID:11891829 "DO", PMID:12379852 "DO"] synonym: "hydranencephaly and abnormal genitalia" EXACT [] synonym: "hydranencephaly with abnormal genitalia" EXACT [] synonym: "LISX2" EXACT [] synonym: "XLAG" EXACT [] synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [] synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [] synonym: "X-linked lissencephaly with abnormal genitalia" EXACT [] synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [] synonym: "XLIS2" EXACT [] synonym: "XLISG" EXACT [] xref: MESH:C564563 xref: MIM:300215 xref: ORDO:452 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9001611 ! Urogenital Abnormalities created_by: mtutaj creation_date: 2021-03-29T21:07:11Z [Term] id: DOID:0112239 name: X-linked lissencephaly 1 def: "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. (DO)" [PMID:9132485 "DO", PMID:9489699 "DO"] synonym: "DCX-RELATED CONDITION" BROAD [] synonym: "lissencephalies type 1" EXACT [] synonym: "lissencephaly 1" EXACT [] synonym: "lissencephaly type 1" EXACT [] synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT [] synonym: "LISX1" EXACT [] synonym: "XLIS1" EXACT [] xref: MIM:300067 xref: MONDO:0010239 xref: NCI:C205645 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050735 ! X-linked monogenic disease created_by: mtutaj creation_date: 2021-03-29T21:11:11Z [Term] id: DOID:0112240 name: Leber congenital amaurosis with early-onset deafness alt_id: DOID:9009120 def: "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. (DO)" [PMID:29198720 "DO"] synonym: "LCAEOD" EXACT [] synonym: "TUBB4B-RELATED CONDITION" EXACT [] xref: MIM:617879 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14791 ! Leber congenital amaurosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0112241 name: multiple benign circumferential skin creases on limbs alt_id: DOID:9002281 def: "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. (DO)" [PMID:26637975 "DO"] synonym: "CCSF" EXACT [] synonym: "CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE" EXACT [] synonym: "congenital circumferential skin folds" EXACT [] synonym: "Congenital Symmetric Circumferential Skin Creases" EXACT [] synonym: "Kunze Riehm syndrome" EXACT [] synonym: "Michelin Tire Baby Syndrome" EXACT [] synonym: "multiple benign ring-shaped skin creases of limbs" EXACT [] xref: GARD:3589 xref: MESH:C537575 xref: MIM:PS156610 xref: ORDO:2505 is_a: DOID:1059 ! intellectual disability is_a: DOID:3144 ! cutis laxa is_a: DOID:3462 ! hamartoma is_a: DOID:674 ! cleft palate is_a: DOID:9001946 ! Skin Abnormalities created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0112242 name: congenital symmetric circumferential skin creases 1 alt_id: DOID:9005935 def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. (DO)" [PMID:26637975 "DO"] synonym: "CSCSC1" EXACT [] synonym: "TUBB-related condition" BROAD [] xref: MIM:156610 xref: MONDO:0020738 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs created_by: mtutaj creation_date: 2021-03-29T21:24:11Z [Term] id: DOID:0112243 name: congenital symmetric circumferential skin creases 2 alt_id: DOID:9008922 def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. (DO)" [PMID:26637975 "DO"] synonym: "CSCSC2" EXACT [] synonym: "MAPRE2-RELATED CONDITION" EXACT [] xref: MIM:616734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs created_by: mtutaj creation_date: 2021-03-29T21:29:11Z [Term] id: DOID:0112244 name: alopecia, neurologic defects, and endocrinopathy syndrome def: "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. (DO)" [PMID:18439547 "DO"] synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [] synonym: "ANES" EXACT [] synonym: "ANE syndrome" EXACT [] synonym: "RBM28-related condition" EXACT [] xref: DOID:9003428 xref: MESH:C567425 xref: MIM:612079 xref: MONDO:0012794 xref: ORDO:157954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-03-29T21:33:11Z [Term] id: DOID:0112245 name: focal segmental glomerulosclerosis 3 alt_id: DOID:9000237 def: "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. (DO)" [PMID:12764198 "DO"] synonym: "CD2AP-related condition" EXACT [] synonym: "focal segmental glomerulosclerosis 3, susceptibility to" RELATED [] synonym: "FSGS3" EXACT [] xref: MIM:607832 xref: MONDO:0011917 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: mtutaj creation_date: 2021-03-29T21:36:11Z [Term] id: DOID:0112246 name: glutaric acidemia type 3 alt_id: DOID:9004214 alt_id: MIM:231690 def: "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. (DO)" [PMID:23893049 "DO"] synonym: "GA3" EXACT [] synonym: "GA III" EXACT [] synonym: "glutaric aciduria 3" EXACT [] synonym: "Glutaric Aciduria III" EXACT [] synonym: "glutaric aciduria type 3" EXACT [] synonym: "Glutaryl-CoA Oxidase Deficiency" EXACT [] synonym: "SUGCT-RELATED CONDITION" EXACT [] xref: GARD:12469 xref: MESH:C562818 xref: ORDO:35706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009132 ! Glutaric Aciduria is_a: DOID:906 ! peroxisomal disease created_by: mtutaj creation_date: 2021-03-29T21:40:11Z [Term] id: DOID:0112247 name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder alt_id: DOID:9003115 def: "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK536784/ "DO", PMID:27479907 "DO", PMID:29021403 "DO"] synonym: "CDK13-Related CHDFIDD" EXACT [] synonym: "CDK13-RELATED CONDITION" EXACT [] synonym: "CDK13-Related Disorder" EXACT [] synonym: "CHDFIDD" EXACT [] xref: MIM:617360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-03-29T21:44:11Z [Term] id: DOID:0112248 name: 17-beta hydroxysteroid dehydrogenase 3 deficiency alt_id: DOID:9005168 def: "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. (DO)" [https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/ "DO", PMID:11158067 "DO", PMID:8550739 "DO"] synonym: "17-alpha ketosteroid reductase deficiency of testis" EXACT [] synonym: "17-beta-hydroxysteroid dehydrogenase deficiency" EXACT [] synonym: "17-Beta Hydroxysteroid Dehydrogenase III Deficiency" EXACT [] synonym: "17-Hydroxysteroid Dehydrogenase Deficiency" EXACT [] synonym: "17-ketoreductase deficiency" EXACT [] synonym: "17-ketosteroidreductase deficiency" EXACT [] synonym: "17-Ketosteroid Reductase Deficiency Of Testis" EXACT [] synonym: "17-Ksr Deficiency" EXACT [] synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [] synonym: "HSD17B3-RELATED CONDITION" EXACT [] synonym: "Male pseudohermaphroditism with gynecomastia" EXACT [] synonym: "neutral 17-beta-hydroxysteroid oxidoreductase deficiency" EXACT [] synonym: "PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY" NARROW [] synonym: "TESTOSTERONE 17-BETA-DEHYDROGENASE DEFICIENCY" RELATED [] xref: GARD:5659 xref: MESH:C537805 xref: MIM:264300 xref: MONDO:0009916 xref: NCI:C120203 xref: ORDO:752 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12698 ! gynecomastia is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:3765 ! pseudohermaphroditism is_a: DOID:9003766 ! 46, XY Disorders of Sex Development created_by: mtutaj creation_date: 2021-03-29T21:54:11Z [Term] id: DOID:0112249 name: GAPO syndrome alt_id: DOID:9008322 def: "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. (DO)" [PMID:25045128 "DO", PMID:6507471 "DO"] synonym: "ANTXR1-related condition" BROAD [] synonym: "GAPOS" EXACT [] synonym: "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [] synonym: "Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy" EXACT [] synonym: "Odontotrichomelic Syndrome" EXACT [] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [] xref: MESH:C535642 xref: MIM:230740 xref: MONDO:0009263 xref: ORDO:2067 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-03-29T21:57:11Z [Term] id: DOID:0112250 name: Gaucher's disease type IIIC alt_id: DOID:9005892 alt_id: DOID:9007825 def: "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. (DO)" [PMID:10636167 "DO"] synonym: "cardiovascular Gaucher disease" EXACT [] synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT [] synonym: "Gaucher disease type 3C" EXACT [] synonym: "Gaucher disease type IIIc" EXACT [] synonym: "Gaucher-like disease" EXACT [] synonym: "GD3C" EXACT [] synonym: "pseudo Gaucher disease" RELATED [] xref: MESH:C537675 xref: MESH:C565553 xref: MIM:231005 xref: MONDO:0009268 xref: ORDO:2072 is_a: DOID:0110959 ! Gaucher's disease type III created_by: mtutaj creation_date: 2021-03-29T22:00:11Z [Term] id: DOID:0112251 name: Ghosal hematodiaphyseal syndrome alt_id: DOID:9003776 alt_id: MIM:231095 def: "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. (DO)" [https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/ "DO", PMID:18264100 "DO", PMID:3385529 "DO"] synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [] synonym: "GHDD" EXACT [] synonym: "Ghosal Hematodiaphyseal Dysplasia" EXACT [] synonym: "Ghosal Syndrome" EXACT [] synonym: "TBXAS1-RELATED CONDITION" EXACT [] xref: GARD:10297 xref: MESH:C565551 xref: ORDO:1802 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000300 ! Refractory Anemia created_by: mtutaj creation_date: 2021-03-29T21:03:11Z [Term] id: DOID:0112252 name: congenital nonspherocytic hemolytic anemia 6 alt_id: DOID:9006583 def: "A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (DO)" [PMID:5476481 "DO", PMID:659603 "DO", PMID:8896573 "DO"] synonym: "CNSHA6" EXACT [] synonym: "glutathione synthetase deficiency of erythrocytes" EXACT [] synonym: "glutathione synthetase deficiency without 5-oxoprolinuria" EXACT [] synonym: "GSSDE" EXACT [] synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [] synonym: "hemolytic anemia due to glutathione synthetase deficiency of erythrocytes" EXACT [] xref: MESH:C565545 xref: MIM:231900 xref: MONDO:0009284 xref: ORDO:289849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080699 ! glutathione synthetase deficiency is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2021-03-29T21:06:11Z [Term] id: DOID:0112253 name: combined cellular and humoral immune defects with granulomas alt_id: DOID:9008188 alt_id: MIM:233650 def: "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)" [PMID:18463379 "DO"] synonym: "CCHIDG" EXACT [] synonym: "CID due to RAG 1/2 deficiency" EXACT [] synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [] synonym: "combined immunodeficiency with granulomatosis" EXACT [] synonym: "COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS" EXACT [] xref: GARD:13587 xref: MESH:C567115 xref: ORDO:157949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:3265 ! chronic granulomatous disease created_by: mtutaj creation_date: 2021-03-29T21:09:11Z [Term] id: DOID:0112254 name: hepatic venoocclusive disease with immunodeficiency alt_id: DOID:9008664 alt_id: MIM:235550 def: "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. (DO)" [https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/ "DO", PMID:16648851 "DO"] synonym: "Familial Veno-Occlusive Disease with Immunodeficiency" EXACT [] synonym: "hepatic veno-occlusive disease-immunodeficiency syndrome" EXACT [] synonym: "Hepatic Veno-Occlusive Disease with Immunodeficiency" EXACT [] synonym: "Veno-Occlusive Disease and Immunodeficiency Syndrome" EXACT [] synonym: "VODI" EXACT [] xref: GARD:10083 xref: MESH:C537257 xref: ORDO:79124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080177 ! hepatic veno-occlusive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-03-29T21:13:11Z [Term] id: DOID:0112255 name: homocystinuria-megaloblastic anemia cblE type alt_id: DOID:9005758 def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. (DO)" [PMID:3384945 "DO"] synonym: "functional methionine synthase deficiency type cblE" EXACT [] synonym: "HMAE" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE" EXACT [] synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type" EXACT [] synonym: "Methylcobalamin Deficiency, CblE Type" EXACT [] synonym: "Vitamin B12-Responsive Homocystinuria, CblE Type" EXACT [] xref: MESH:C565510 xref: MIM:236270 xref: MONDO:0009354 xref: NCI:C142173 xref: ORDO:2169 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009103 ! Homocystinuria-Megaloblastic Anemia created_by: mtutaj creation_date: 2021-03-29T21:17:11Z [Term] id: DOID:0112256 name: homocystinuria-megaloblastic anemia cblG type def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. (DO)" [PMID:3384945 "DO", PMID:8968737 "DO"] synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" EXACT [] synonym: "methylcobalamin deficiency, cblG type" EXACT [] xref: GARD:3577 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009103 ! Homocystinuria-Megaloblastic Anemia created_by: mtutaj creation_date: 2021-03-29T21:20:11Z [Term] id: DOID:0112257 name: hydroxykynureninuria alt_id: DOID:9002475 alt_id: MIM:236800 def: "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. (DO)" [PMID:17334708 "DO"] synonym: "KYNU-RELATED CONDITION" BROAD [] synonym: "kynureninase deficiency" EXACT [] synonym: "KYNURENINASE DEFICIENCY, PARTIAL" EXACT [] synonym: "xanthurenic aciduria" EXACT [] xref: GARD:10039 xref: MESH:C536081 xref: ORDO:79155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2021-03-29T22:30:11Z [Term] id: DOID:0112258 name: N-acetylglutamate synthase deficiency alt_id: DOID:9005654 def: "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. (DO)" [PMID:12594532 "DO", PMID:3139931 "DO"] synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT [] synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" EXACT [] synonym: "N-Acetyl Glutamate Synthetase Deficiency" EXACT [] synonym: "N-acetylglutamate synthetase deficiency" EXACT [] synonym: "NAGSD" EXACT [] synonym: "NAGS deficiency" EXACT [] synonym: "NAG synthetase deficiency" EXACT [] xref: GARD:7158 xref: MESH:C536109 xref: MIM:237310 xref: MONDO:0009377 xref: NCI:C129307 xref: ORDO:927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9267 ! urea cycle disorder created_by: mtutaj creation_date: 2021-03-29T22:34:11Z [Term] id: DOID:0112259 name: Leydig cell hypoplasia alt_id: DOID:9001157 alt_id: MIM:238320 def: "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/ "DO", PMID:7719343 "DO"] synonym: "46,XY Disorder of Sex Development Due To LH Defects" EXACT [] synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [] synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [] synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [] synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [] synonym: "Leydig Cell Agenesis" EXACT [] synonym: "Leydig Cell Hypoplasia with Male Pseudohermaphroditism" EXACT [] synonym: "LHCGR-RELATED CONDITION" BROAD [] synonym: "LH Resistance Due To LH Receptor Deactivation" EXACT [] synonym: "LUTEINIZING HORMONE RESISTANCE, FEMALE" NARROW [] synonym: "Male Hypergonadotropic Hypogonadism Due To LHCGR Defect" EXACT [] xref: GARD:3244 xref: MESH:C562567 xref: ORDO:755 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3765 ! pseudohermaphroditism is_a: DOID:9003766 ! 46, XY Disorders of Sex Development created_by: mtutaj creation_date: 2021-03-29T22:42:11Z [Term] id: DOID:0112260 name: Leydig cell hypoplasia type I def: "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [PMID:10714363 "DO", PMID:11041448 "DO"] synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [] synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [] synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [] synonym: "46,XY DSD due to complete LH resistance" EXACT [] synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [] synonym: "Leydig Cell Hypoplasia, Complete" EXACT [] synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [] synonym: "Leydig Cell Hypoplasia, Type 1" EXACT [] synonym: "LEYDIG HYPOPLASIA, TYPE I" EXACT [] xref: ORDO:96265 is_a: DOID:0112259 ! Leydig cell hypoplasia created_by: mtutaj creation_date: 2021-03-29T23:32:11Z [Term] id: DOID:0112261 name: Leydig cell hypoplasia type II def: "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [PMID:11041448 "DO"] synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT [] synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT [] synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [] synonym: "46,XY DSD due to partial LH resistance" EXACT [] synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [] synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to partial LH resistance" EXACT [] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [] synonym: "LEYDIG CELL HYPOPLASIA, PARTIAL" EXACT [] xref: ORDO:96266 is_a: DOID:0112259 ! Leydig cell hypoplasia created_by: mtutaj creation_date: 2021-03-29T23:36:11Z [Term] id: DOID:0112262 name: leucine-sensitive hypoglycemia of infancy alt_id: DOID:9004440 def: "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. (DO)" [PMID:15356046 "DO"] synonym: "leucine-induced hypoglycemia" EXACT [] synonym: "LIH" EXACT [] xref: EFO:0006856 xref: GARD:9915 xref: MESH:C537150 xref: MIM:240800 xref: MONDO:0009415 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9993 ! hypoglycemia created_by: mtutaj creation_date: 2021-03-29T23:41:11Z [Term] id: DOID:0112263 name: hypoinsulinemic hypoglycemia with hemihypertrophy alt_id: DOID:9001032 def: "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. (DO)" [PMID:21979934 "DO"] synonym: "HIHGHH" EXACT [] synonym: "hypoinsulinemic hypoglycemia and body hemihypertrophy" EXACT [] synonym: "HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY" EXACT [] xref: MIM:240900 xref: ORDO:293964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006378 ! Facial Hemihypertrophy is_a: DOID:9993 ! hypoglycemia created_by: mtutaj creation_date: 2021-03-29T23:45:11Z [Term] id: DOID:0112264 name: Woodhouse-Sakati syndrome alt_id: DOID:9007524 def: "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. (DO)" [https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/ "DO", PMID:19026396 "DO", PMID:6876115 "DO"] synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [] synonym: "diabetes-hypogonadism-hearing loss-intellectual disability syndrome" EXACT [] synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome" EXACT [] synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" EXACT [] synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia" EXACT [] synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, and alopecia" EXACT [] synonym: "WDSKS" EXACT [] synonym: "WSS" EXACT [] xref: GARD:5592 xref: MESH:C536742 xref: MIM:241080 xref: MONDO:0009419 xref: ORDO:3464 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:679 ! basal ganglia disease is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9351 ! diabetes mellitus is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-03-29T23:49:11Z [Term] id: DOID:0112265 name: iminoglycinuria alt_id: DOID:9007948 alt_id: MIM:242600 def: "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. (DO)" [PMID:19033659 "DO"] synonym: "SLC36A2-RELATED CONDITION" BROAD [] xref: GARD:8424 xref: MESH:C536285 xref: ORDO:42062 is_a: DOID:0080578 ! digenic disease is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2021-03-29T23:53:11Z [Term] id: DOID:0112266 name: nephrotic syndrome type 23 alt_id: DOID:9005998 def: "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. (DO)" [PMID:31472902 "DO"] synonym: "KIRREL1-RELATED CONDITION" EXACT [] synonym: "NPHS23" EXACT [] xref: MIM:619201 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-03-29T23:56:11Z [Term] id: DOID:0112267 name: nephrotic syndrome type 21 alt_id: DOID:9001780 def: "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. (DO)" [PMID:29058690 "DO"] synonym: "AVIL-RELATED CONDITION" EXACT [] synonym: "NPHS21" EXACT [] xref: MIM:618594 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-03-29T23:59:11Z [Term] id: DOID:0112268 name: nephrotic syndrome type 22 alt_id: DOID:9006110 def: "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. (DO)" [PMID:33523862 "DO"] synonym: "NOS1AP-RELATED CONDITION" EXACT [] synonym: "NPHS22" EXACT [] xref: MIM:619155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-03-30T00:03:11Z [Term] id: DOID:0112269 name: primary ovarian insufficiency 18 alt_id: DOID:9002167 def: "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)" [PMID:33508233 "DO"] synonym: "C14ORF39-RELATED DISORDER" BROAD [] synonym: "POF18" EXACT [] synonym: "premature ovarian failure 18" EXACT [] xref: MIM:619203 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-03-30T07:58:11Z [Term] id: DOID:0112270 name: spermatogenic failure 52 alt_id: DOID:9008964 def: "A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)" [PMID:33508233 "DO"] synonym: "C14ORF39-RELATED DISORDER" BROAD [] synonym: "SPGF52" EXACT [] xref: MIM:619202 xref: MONDO:0030938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2021-03-30T08:01:11Z [Term] id: DOID:0112271 name: spermatogenic failure 49 alt_id: DOID:9003200 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. (DO)" [PMID:32791035 "DO"] synonym: "CFAP58-RELATED DISORDER" EXACT [] synonym: "SPGF49" EXACT [] synonym: "SPGF98" EXACT [] xref: MIM:619144 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-03-30T08:06:11Z [Term] id: DOID:0112272 name: spermatogenic failure 50 alt_id: DOID:9006198 def: "A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. (DO)" [PMID:30042186 "DO"] synonym: "SPGF50" EXACT [] xref: MIM:619145 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2021-03-30T08:09:11Z [Term] id: DOID:0112273 name: spermatogenic failure 51 alt_id: DOID:9008842 def: "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. (DO)" [PMID:32161152 "DO"] synonym: "CFAP91-related condition" EXACT [] synonym: "SPGF51" EXACT [] xref: MIM:619177 xref: MONDO:0030926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-03-30T08:12:11Z [Term] id: DOID:0112274 name: X-linked spermatogenic failure 3 alt_id: DOID:9007466 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. (DO)" [PMID:33472045 "DO"] synonym: "SPGFX3" EXACT [] xref: MIM:301059 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:0112275 name: developmental and epileptic encephalopathy 93 alt_id: DOID:9008555 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. (DO)" [PMID:29668857 "DO"] synonym: "ATP6V1A-related condition" BROAD [] synonym: "DEE93" EXACT [] synonym: "IECEE3" EXACT [] synonym: "infantile or early childhood epileptic encephalopathy 3" EXACT [] xref: MIM:618012 xref: MONDO:0020632 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-04-29T22:14:36Z [Term] id: DOID:0112276 name: neurodevelopmental disorder with involuntary movements alt_id: DOID:9001978 def: "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. (DO)" [PMID:27068059 "DO", PMID:28357411 "DO"] synonym: "GNAO1-RELATED CONDITION" BROAD [] synonym: "NEDIM" EXACT [] xref: MIM:617493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:480 ! movement disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2021-04-29T22:16:35Z [Term] id: DOID:0112277 name: immunodeficiency 79 def: "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. (DO)" [PMID:31781092 "DO", PMID:33471124 "DO"] synonym: "CD4-RELATED CONDITION" BROAD [] synonym: "IMD79" EXACT [] xref: MIM:619238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2021-04-29T22:19:01Z [Term] id: DOID:0112278 name: primary ovarian insufficiency 19 alt_id: DOID:9000665 def: "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. (DO)" [PMID:32845237 "DO"] synonym: "POF19" EXACT [] synonym: "POI19" EXACT [] synonym: "premature ovarian failure 19" EXACT [] xref: MIM:619245 xref: MONDO:0030985 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-04-29T22:22:42Z [Term] id: DOID:0112279 name: spermatogenic failure 53 alt_id: DOID:9008411 def: "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. (DO)" [PMID:33626338 "DO"] synonym: "SPGF53" EXACT [] xref: MIM:619258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-04-29T22:25:15Z [Term] id: DOID:0112280 name: spondyloepiphyseal dysplasia def: "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. (DO)" [https://emedicine.medscape.com/article/1260836-overview "DO", PMID:16080123 "DO"] synonym: "SED" EXACT [] xref: GARD:7687 xref: MONDO:0016761 xref: ORDO:253 is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2021-04-29T17:38:06Z [Term] id: DOID:0112281 name: spondyloepiphyseal dysplasia Stanescu type alt_id: DOID:9004463 def: "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)" [PMID:26183434 "DO", PMID:6430256 "DO", PMID:9592900 "DO"] synonym: "SED, STANESCU TYPE" EXACT [] synonym: "SEDSTN" EXACT [] synonym: "Stanescu type of spondyloepiphyseal dysplasia" EXACT [] xref: MIM:616583 xref: ORDO:459051 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:28:17Z [Term] id: DOID:0112282 name: spondyloepiphyseal dysplasia Kimberley type alt_id: DOID:9002341 def: "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (DO)" [PMID:16080123 "DO", PMID:1978986 "DO"] synonym: "SEDK" EXACT [] xref: MESH:C564252 xref: MIM:608361 xref: MONDO:0012019 xref: ORDO:93283 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:30:13Z [Term] id: DOID:0112283 name: spondyloepiphyseal dysplasia Kondo-Fu type alt_id: DOID:9003246 def: "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. (DO)" [PMID:30046013 "DO"] synonym: "MBTPS1-RELATED CONDITION" EXACT [] synonym: "SEDKF" EXACT [] synonym: "SED with elevated blood lysosomal enzymes" EXACT [] xref: EFO:0010168 xref: MIM:618392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:32:04Z [Term] id: DOID:0112284 name: spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. (DO)" [https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/ "DO", PMID:3213464 "DO"] synonym: "SEDT" EXACT [] synonym: "SED tarda" EXACT [] xref: MONDO:0019667 xref: ORDO:93284 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T19:04:40Z [Term] id: DOID:0112285 name: autosomal dominant spondyloepiphyseal dysplasia tarda alt_id: DOID:9007036 def: "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. (DO)" [PMID:1353665 "DO", PMID:3213464 "DO"] xref: GARD:10624 xref: MESH:C566658 xref: MIM:184100 xref: MONDO:0008474 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda created_by: mtutaj creation_date: 2021-04-29T22:34:15Z [Term] id: DOID:0112286 name: spondyloepiphyseal dysplasia with punctate corneal dystrophy alt_id: DOID:9000649 def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. (DO)" [PMID:414988 "DO"] xref: MESH:C566660 xref: MIM:183850 xref: MONDO:0008470 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:2566 ! corneal dystrophy created_by: mtutaj creation_date: 2021-04-29T22:36:28Z [Term] id: DOID:0112287 name: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech alt_id: DOID:9005310 def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. (DO)" [PMID:17515304 "DO"] synonym: "Fantasy Island Syndrome" EXACT [] synonym: "SED-BDS" EXACT [] synonym: "SED-brachydactyly and distinctive speech" EXACT [] synonym: "spondyloepiphyseal dysplasia, Cantu type" EXACT [] synonym: "Tattoo Dysplasia" EXACT [] xref: GARD:10629 xref: MESH:C567128 xref: MIM:611717 xref: MONDO:0012716 xref: ORDO:163654 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:38:37Z [Term] id: DOID:0112288 name: spondyloepiphyseal dysplasia Nishimura type alt_id: DOID:9007564 def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. (DO)" [PMID:30804514 "DO"] synonym: "SEDN" EXACT [] synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA MIR140 TYPE NISHIMURA" EXACT [] xref: MIM:618618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:41:05Z [Term] id: DOID:0112289 name: spondyloepiphyseal dysplasia tarda with characteristic facies alt_id: DOID:9008185 alt_id: MIM:600093 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. (DO)" [PMID:8298734 "DO"] xref: MESH:C564003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2021-04-29T22:42:51Z [Term] id: DOID:0112290 name: spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis alt_id: DOID:9001252 def: "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. (DO)" [PMID:32533184 "DO", PMID:33668384 "DO"] synonym: "NMNAT1-RELATED RETINOPATHY" BROAD [] synonym: "SHILCA" EXACT [] synonym: "SHILCA Syndrome" EXACT [] xref: MIM:619260 xref: MONDO:0031007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:14791 ! Leber congenital amaurosis is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2021-04-29T22:44:47Z [Term] id: DOID:0112291 name: autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type alt_id: DOID:9000095 alt_id: MIM:609223 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. (DO)" [PMID:14755466 "DO"] xref: MESH:C563772 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda created_by: mtutaj creation_date: 2021-04-29T22:48:28Z [Term] id: DOID:0112292 name: spondyloepiphyseal dysplasia tarda with impaired intellectual development alt_id: DOID:9005685 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. (DO)" [PMID:3612708 "DO"] synonym: "spondyloepiphyseal dysplasia tarda, Kohn type" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" EXACT [] xref: MESH:C564796 xref: MIM:271620 xref: MONDO:0010073 xref: ORDO:163665 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2021-04-29T22:50:42Z [Term] id: DOID:0112293 name: autosomal recessive spondyloepiphyseal dysplasia tarda alt_id: DOID:9008360 alt_id: MIM:271600 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. (DO)" [PMID:19994087 "DO"] xref: MESH:C564797 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda created_by: mtutaj creation_date: 2021-04-29T22:53:26Z [Term] id: DOID:0112294 name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development alt_id: DOID:9002773 def: "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. (DO)" [PMID:9557884 "DO"] synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [] synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT [] xref: MESH:C566515 xref: MIM:602611 xref: MONDO:0011261 xref: ORDO:163649 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2021-04-29T22:56:04Z [Term] id: DOID:0112295 name: spondylometaphyseal dysplasia alt_id: DOID:9007642 def: "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. (DO)" [PMID:16752352 "DO"] synonym: "SMD" EXACT [] synonym: "spondylometaphyseal dysplasia (Smd)" EXACT [] synonym: "spondylometaphyseal dysplasias" EXACT [] xref: MIM:PS184255 xref: MONDO:0016763 xref: ORDO:254 is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2021-04-29T22:09:44Z [Term] id: DOID:0112296 name: spondylometaphyseal dysplasia Algerian type alt_id: DOID:9000592 def: "A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)" [PMID:23653587 "DO", PMID:3368247 "DO"] synonym: "SMDALG" EXACT [] synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [] synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [] xref: GARD:504 xref: MESH:C535794 xref: MIM:184253 xref: MONDO:0008478 xref: ORDO:93316 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:00:08Z [Term] id: DOID:0112297 name: spondylometaphyseal dysplasia corner fracture type alt_id: DOID:9000546 alt_id: MIM:184255 def: "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. (DO)" [PMID:2343127 "DO", PMID:29100092 "DO"] synonym: "FN1-RELATED CONDITION" BROAD [] synonym: "SMDCF" EXACT [] synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [] xref: GARD:4991 xref: MESH:C535793 xref: ORDO:93315 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:9001547 ! Tibial Fractures is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2021-04-29T23:01:47Z [Term] id: DOID:0112298 name: spondylometaphyseal dysplasia Sedaghatian type alt_id: DOID:9003961 def: "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. (DO)" [PMID:24706940 "DO"] synonym: "GPX4-related condition" BROAD [] synonym: "Lethal Metaphyseal Dysplasia" EXACT [] synonym: "Metaphyseal Chondrodysplasia, Congenital Lethal" EXACT [] synonym: "Sedaghatian Chondrodysplasia" EXACT [] synonym: "SMDS" EXACT [] xref: GARD:4993 xref: MESH:C535798 xref: MIM:250220 xref: MONDO:0009593 xref: ORDO:93317 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:03:20Z [Term] id: DOID:0112299 name: axial spondylometaphyseal dysplasia alt_id: DOID:9006983 def: "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. (DO)" [PMID:21910225 "DO", PMID:26167768 "DO"] synonym: "CFAP410-related condition" BROAD [] synonym: "SMDAX" EXACT [] synonym: "SMD, axial" EXACT [] synonym: "spondylometaphyseal dysplasia, axial" EXACT [] xref: GARD:8720 xref: MESH:C535795 xref: MIM:602271 xref: MONDO:0011211 xref: ORDO:168549 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:05:06Z [Term] id: DOID:0112300 name: spondylometaphyseal dysplasia with cone-rod dystrophy alt_id: DOID:9005400 def: "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. (DO)" [PMID:15326626 "DO", PMID:24387990 "DO"] synonym: "PCYT1A-RELATED CONDITION" BROAD [] synonym: "SMD-CRD" EXACT [] synonym: "SMDCRD" EXACT [] synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT [] xref: GARD:10647 xref: MESH:C563825 xref: MIM:608940 xref: MONDO:0012160 xref: ORDO:85167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-04-29T23:06:40Z [Term] id: DOID:0112301 name: spondylometaphyseal dysplasia type A4 alt_id: DOID:9005008 def: "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. (DO)" [PMID:1870931 "DO", PMID:9637426 "DO"] synonym: "SMDA4" EXACT [] xref: GARD:458 xref: MESH:C563803 xref: MIM:609052 xref: MONDO:0012185 xref: ORDO:168555 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:08:21Z [Term] id: DOID:0112302 name: spondylometaphyseal dysplasia East African type alt_id: DOID:9006984 def: "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. (DO)" [PMID:12457408 "DO"] xref: GARD:4992 xref: MESH:C535796 xref: MIM:611702 xref: MONDO:0012713 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:09:43Z [Term] id: DOID:0112303 name: spondylometaphyseal dysplasia with corneal dystrophy alt_id: DOID:9006773 def: "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. (DO)" [PMID:29122926 "DO"] synonym: "PLCB3-RELATED CONDITION" EXACT [] synonym: "SMDCD" EXACT [] xref: MIM:618961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:2566 ! corneal dystrophy created_by: mtutaj creation_date: 2021-04-29T23:11:21Z [Term] id: DOID:0112304 name: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type alt_id: DOID:9005899 alt_id: MIM:613320 def: "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. (DO)" [PMID:24786642 "DO"] synonym: "Chondrodysplasia, Megarbane-Dagher-Melki Type" EXACT [] synonym: "Megarbane-Dagher-Melike type chondrodysplasia" EXACT [] synonym: "Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia" EXACT [] synonym: "PAM16-RELATED CONDITION" EXACT [] synonym: "SMDMDM" EXACT [] synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type" EXACT [] xref: MESH:C567644 xref: ORDO:401979 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-04-29T23:12:45Z [Term] id: DOID:0112305 name: spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism alt_id: DOID:9006430 alt_id: MIM:607543 def: "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. (DO)" [PMID:12503112 "DO"] synonym: "SMD With Bowed Forearms And Facial Dysmorphism" EXACT [] synonym: "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" EXACT [] xref: GARD:8719 xref: MESH:C535791 xref: ORDO:168552 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:15:01Z [Term] id: DOID:0112306 name: Mahvash disease def: "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. (DO)" [PMID:29702528 "DO"] synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [] synonym: "GCGR-RELATED CONDITION" EXACT [] synonym: "GCGR-related hyperglucagonemia" EXACT [] synonym: "MVAH" EXACT [] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [] xref: GARD:10460 xref: MIM:619290 xref: ORDO:438274 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1428 ! endocrine pancreas disease created_by: mtutaj creation_date: 2021-04-29T23:16:55Z [Term] id: DOID:0112307 name: sarcosinemia alt_id: DOID:9005413 def: "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. (DO)" [PMID:22825317 "DO", PMID:5936868 "DO"] synonym: "deficiency of sarcosin dehydrogenase complex" EXACT [] synonym: "deficiency of sarcosine dehydrogenase complex" EXACT [] synonym: "demethylation defect of N-methylglycine" EXACT [] synonym: "hypersarcosinemia" EXACT [] synonym: "SARCOS" EXACT [] synonym: "SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY" EXACT [] synonym: "SARD deficiency" EXACT [] synonym: "SARDHD" EXACT [] synonym: "SARDH deficiency" EXACT [] synonym: "SARDH-related condition" BROAD [] xref: GARD:158 xref: MESH:C537236 xref: MIM:268900 xref: MONDO:0010008 xref: ORDO:3129 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2021-04-29T23:18:44Z [Term] id: DOID:0112308 name: central precocious puberty def: "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. (DO)" [PMID:23738509 "DO", PMID:30086862 "DO"] synonym: "gonadotropin-dependant precocious puberty" EXACT [] xref: EFO:0009029 xref: ICD10CM:E22.8 xref: NCI:C113217 xref: ORDO:759 is_a: DOID:9007284 ! Precocious Puberty created_by: mtutaj creation_date: 2021-06-03T21:57:17Z [Term] id: DOID:0112309 name: central precocious puberty 2 alt_id: DOID:9005385 def: "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. (DO)" [PMID:23738509 "DO"] synonym: "CPPB2" EXACT [] synonym: "MKRN3-RELATED CONDITION" EXACT [] xref: MIM:615346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112308 ! central precocious puberty created_by: mtutaj creation_date: 2021-06-03T22:01:09Z [Term] id: DOID:0112310 name: central precocious puberty 1 alt_id: DOID:9006905 alt_id: MIM:176400 def: "A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. (DO)" [PMID:18272894 "DO"] synonym: "CPPB1" EXACT [] synonym: "KISS1R-RELATED CONDITION" BROAD [] xref: MESH:C562787 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112308 ! central precocious puberty created_by: mtutaj creation_date: 2021-06-03T22:04:10Z [Term] id: DOID:0112311 name: male infertility due to acephalic spermatozoa def: "A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. (DO)" [PMID:27640305 "DO"] synonym: "acephalic spermatozoa syndrome" EXACT [] xref: MONDO:0035153 xref: ORDO:529970 is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-10-12T14:17:38Z [Term] id: DOID:0112312 name: male infertility due to globozoospermia alt_id: DOID:9000296 alt_id: DOID:9001850 def: "A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. (DO)" [PMID:3338587 "DO"] synonym: "globozoospermia" EXACT [] synonym: "globozoospermias" EXACT [] synonym: "globozoospermia syndrome" EXACT [] synonym: "male infertility due to round-headed spermatozoa" EXACT [] xref: GARD:12502 xref: NCI:C158500 xref: ORDO:171709 is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:9002321 ! Teratozoospermia created_by: mtutaj creation_date: 2021-10-12T16:22:12Z [Term] id: DOID:0112313 name: brain small vessel disease alt_id: DOID:9007269 def: "A brain disease characterized by abnormalities in the small blood vessels in the brain. (DO)" [PMID:16598045 "DO"] synonym: "brain small vessel diseases" EXACT [] synonym: "BSVD" EXACT [] synonym: "cerebral microangiopathies" EXACT [] synonym: "cerebral microangiopathy" EXACT [] synonym: "cerebral small vessel disease" EXACT [] synonym: "cerebral small vessel diseases" EXACT [] synonym: "COL4-RELATED CEREBRAL SMALL VESSEL DISEASE" NARROW [] xref: EFO:0008493 xref: MESH:D059345 xref: MIM:PS175780 is_a: DOID:6713 ! cerebrovascular disease created_by: mtutaj creation_date: 2021-10-12T16:24:37Z [Term] id: DOID:0112314 name: autosomal dominant brain small vessel disease 2A alt_id: DOID:9007357 def: "A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. (DO)" [PMID:22209246 "DO"] synonym: "ACQUIRED PORENCEPHALY" RELATED [] synonym: "brain small vessel disease 2" RELATED [] synonym: "BSVD2" EXACT [] synonym: "COL4A2-related condition" BROAD [] synonym: "COL4A2-related disorder" BROAD [] synonym: "Gould syndrome 2" EXACT [] synonym: "POREN2" EXACT [] synonym: "porencephaly 2" EXACT [] xref: MIM:614483 xref: MONDO:0013773 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060263 ! porencephaly is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2021-10-12T16:47:59Z [Term] id: DOID:0112315 name: brain small vessel disease 3 alt_id: DOID:9007013 def: "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. (DO)" [PMID:30412317 "DO"] synonym: "BSVD3" EXACT [] synonym: "COLGALT1-RELATED CONDITION" EXACT [] xref: MIM:618360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2021-10-12T16:50:25Z [Term] id: DOID:0112316 name: methemoglobinemia and ambiguous genitalia alt_id: DOID:9005696 alt_id: MIM:250790 def: "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. (DO)" [PMID:20080843 "DO", PMID:22170710 "DO"] synonym: "CYB5A-RELATED CONDITION" EXACT [] synonym: "METAG" EXACT [] synonym: "methemoglobinemia due to deficiency of cytochrome B5" EXACT [] synonym: "methemoglobinemia type IV" EXACT [] synonym: "pure isolated 17,20-lyase deficiency" EXACT [] xref: MESH:C567102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10783 ! methemoglobinemia is_a: DOID:1923 ! disorder of sexual development created_by: mtutaj creation_date: 2021-10-12T16:52:59Z [Term] id: DOID:0112317 name: Schindler disease def: "A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [PMID:3149698 "DO"] synonym: "Alpha-N-Acetylgalactosaminidase Deficiency" EXACT [] synonym: "Alpha-Naga Deficiency" EXACT [] synonym: "Naga Deficiency" EXACT [] synonym: "NAGA-RELATED DISORDER" NARROW [] xref: ORDO:3137 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3211 ! lysosomal storage disease created_by: mtutaj creation_date: 2021-10-12T16:57:08Z [Term] id: DOID:0112318 name: Schindler disease type 1 alt_id: DOID:9008896 alt_id: MIM:609241 def: "A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [PMID:2889023 "DO"] synonym: "Alpha-Galactosidase B Deficiency" EXACT [] synonym: "Alpha-Galnac Deficiency, Schindler Type" EXACT [] synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" EXACT [] synonym: "Alpha-N-Acetylgalactosaminidase Deficiency, Type I" EXACT [] synonym: "Angiokeratoma Corporis Diffusum-Glycopeptiduria" EXACT [] synonym: "Galb Deficiency" EXACT [] synonym: "Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum" EXACT [] synonym: "NAGA deficiency type 1" EXACT [] synonym: "Naga Deficiency, Type I" EXACT [] synonym: "Neuroaxonal dystrophy, Schindler type" EXACT [] synonym: "Neuronal Axonal Dystrophy, Schindler Type" EXACT [] synonym: "Schindler Disease, Type I" EXACT [] xref: GARD:116 xref: MESH:C536631 xref: ORDO:79279 is_a: DOID:0112317 ! Schindler disease is_a: DOID:2367 ! neuroaxonal dystrophy created_by: mtutaj creation_date: 2021-10-12T17:24:35Z [Term] id: DOID:0112319 name: Kanzaki disease def: "A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. (DO)" [PMID:2564952 "DO"] synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" EXACT [] synonym: "Alpha-N-acetylgalactosaminidase deficiency type 2" EXACT [] synonym: "alpha-N-Acetylgalactosaminidase Deficiency, Type II" EXACT [] synonym: "NAGA deficiency type 2" EXACT [] synonym: "NAGA Deficiency, Type II" EXACT [] synonym: "Schindler disease, type 2" EXACT [] synonym: "Schindler Disease, Type II" EXACT [] xref: GARD:9161 xref: MIM:609242 xref: ORDO:79280 is_a: DOID:0112317 ! Schindler disease created_by: mtutaj creation_date: 2021-10-12T17:31:08Z [Term] id: DOID:0112320 name: Schindler disease type 3 def: "A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [PMID:8071745 "DO"] synonym: "alpha-N-acetylgalactosaminidase deficiency type 3" EXACT [] synonym: "Alpha-N-Acetylgalactosaminidase Deficiency, Type III" EXACT [] synonym: "NAGA deficiency type 3" EXACT [] synonym: "NAGA DEFICIENCY, TYPE III" EXACT [] synonym: "SCHINDLER DISEASE, TYPE III" EXACT [] xref: GARD:3903 xref: ORDO:79281 is_a: DOID:0112317 ! Schindler disease created_by: mtutaj creation_date: 2021-10-12T17:35:58Z [Term] id: DOID:0112321 name: alacrima, achalasia, and impaired intellectual development syndrome alt_id: DOID:9004427 def: "A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. (DO)" [PMID:24035193 "DO"] synonym: "AAMR" EXACT [] synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT [] xref: MIM:615510 xref: MONDO:0014219 xref: NCI:C202544 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:5212 ! congenital disorder of glycosylation is_a: DOID:9004034 ! Alacrima is_a: DOID:9005110 ! Familial Esophageal Achalasia is_a: DOID:9006811 ! Congenital Alacrima created_by: mtutaj creation_date: 2021-10-12T17:41:08Z [Term] id: DOID:0112322 name: pontocerebellar hypoplasia type 1 alt_id: DOID:9009228 def: "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. (DO)" [https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ "DO", PMID:21749694 "DO", PMID:29656927 "DO"] synonym: "Norman disease" EXACT [] synonym: "PCH1" EXACT [] xref: GARD:10704 xref: MESH:C548069 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T14:30:30Z [Term] id: DOID:0112323 name: pontocerebellar hypoplasia type 1D alt_id: DOID:9009227 def: "A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (DO)" [PMID:29727687 "DO", PMID:30690203 "DO"] synonym: "EXOSC9-RELATED CONDITION" EXACT [] synonym: "PCH1D" EXACT [] xref: MIM:618065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T14:59:03Z [Term] id: DOID:0112324 name: pontocerebellar hypoplasia type 11 alt_id: DOID:9003995 def: "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. (DO)" [PMID:28823706 "DO"] synonym: "PCH11" EXACT [] synonym: "TBC1D23-related condition" BROAD [] xref: MIM:617695 xref: MONDO:0054669 xref: ORDO:611247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:01:03Z [Term] id: DOID:0112325 name: pontocerebellar hypoplasia type 14 alt_id: DOID:9001507 def: "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. (DO)" [PMID:33220177 "DO"] synonym: "PCH14" EXACT [] xref: MIM:619301 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:03:29Z [Term] id: DOID:0112326 name: pontocerebellar hypoplasia type 15 alt_id: DOID:9005060 def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. (DO)" [PMID:33220177 "DO"] synonym: "PCH15" EXACT [] xref: MIM:619302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:05:01Z [Term] id: DOID:0112327 name: pontocerebellar hypoplasia type 12 alt_id: DOID:9004840 def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. (DO)" [PMID:30089828 "DO"] synonym: "COASY-related condition" BROAD [] synonym: "COASY-related pontocerebellar hypoplasia" EXACT [] synonym: "PCH12" EXACT [] xref: MIM:618266 xref: MONDO:0032643 xref: ORDO:611256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:07:18Z [Term] id: DOID:0112328 name: pontocerebellar hypoplasia type 2 alt_id: DOID:9003707 def: "A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. (DO)" [https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ "DO"] synonym: "PCH2" EXACT [] xref: GARD:10705 xref: MESH:C548070 xref: MONDO:0016759 xref: ORDO:2524 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T14:33:36Z [Term] id: DOID:0112329 name: pontocerebellar hypoplasia type 2F alt_id: DOID:9004573 def: "A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. (DO)" [PMID:27392077 "DO"] synonym: "PCH2F" EXACT [] xref: MIM:617026 xref: MONDO:0014874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: mtutaj creation_date: 2021-11-16T15:10:14Z [Term] id: DOID:0112330 name: pontocerebellar hypoplasia type 1E alt_id: DOID:9005567 def: "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (DO)" [PMID:26168012 "DO", PMID:28653766 "DO"] synonym: "PCH1E" EXACT [] xref: MIM:619303 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T15:12:14Z [Term] id: DOID:0112331 name: pontocerebellar hypoplasia type 1F alt_id: DOID:9004539 def: "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. (DO)" [PMID:33463720 "DO"] synonym: "PCH1F" EXACT [] xref: MIM:619304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T15:13:46Z [Term] id: DOID:0112332 name: pontocerebellar hypoplasia type 13 alt_id: DOID:9001590 def: "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. (DO)" [PMID:31207318 "DO"] synonym: "PCH13" EXACT [] synonym: "VPS51-RELATED CONDITION" EXACT [] xref: EFO:0010636 xref: MIM:618606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:15:19Z [Term] id: DOID:0112333 name: pontocerebellar hypoplasia type 16 alt_id: DOID:9007990 def: "A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. (DO)" [PMID:33168985 "DO", PMID:33257696 "DO"] synonym: "MINPP1-RELATED CONDITION" BROAD [] synonym: "PCH16" EXACT [] xref: MIM:619527 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:16:58Z [Term] id: DOID:0112334 name: pontocerebellar hypoplasia type 1C alt_id: DOID:9006688 def: "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. (DO)" [PMID:24989451 "DO"] synonym: "EXOSC8-RELATED CONDITION" EXACT [] synonym: "HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA" EXACT [] synonym: "PCH1C" EXACT [] xref: MIM:616081 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T15:18:17Z [Term] id: DOID:0112335 name: spermatogenic failure 54 alt_id: DOID:9001569 def: "A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. (DO)" [PMID:32503832 "DO"] synonym: "SPGF54" EXACT [] xref: MIM:619379 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:19:56Z [Term] id: DOID:0112336 name: spermatogenic failure 56 alt_id: DOID:9003560 def: "A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. (DO)" [PMID:34237282 "DO"] synonym: "DNAH10-RELATED CONDITION" EXACT [] synonym: "SPGF56" EXACT [] xref: MIM:619515 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:22:02Z [Term] id: DOID:0112337 name: spermatogenic failure 55 alt_id: DOID:9008489 def: "A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. (DO)" [PMID:28548327 "DO"] synonym: "SPAG17-RELATED CONDITION" EXACT [] synonym: "SPGF55" EXACT [] xref: MIM:619380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:23:19Z [Term] id: DOID:0112338 name: spermatogenic failure 57 alt_id: DOID:9007053 def: "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. (DO)" [PMID:34347949 "DO"] synonym: "MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION" BROAD [] synonym: "SPGF57" EXACT [] xref: MIM:619528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:24:41Z [Term] id: DOID:0112339 name: Tatton-Brown-Rahman syndrome alt_id: DOID:9007831 def: "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. (DO)" [PMID:24614070 "DO", PMID:34315901 "DO"] synonym: "DNMT3A overgrowth syndrome" EXACT [] synonym: "DOS" EXACT [] synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT [] synonym: "TBRS" EXACT [] xref: MIM:615879 xref: ORDO:404443 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006084 ! Gigantism is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2022-03-07T10:43:52Z [Term] id: DOID:0112340 name: craniotubular dysplasia Ikegawa type def: "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. (DO)" [PMID:33824347 "DO"] synonym: "CTDI" EXACT [] synonym: "TMEM53-RELATED CRANIOTUBULAR DYSPLASIA" EXACT [] xref: MIM:619727 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080032 ! craniodiaphyseal dysplasia created_by: mtutaj creation_date: 2022-03-07T10:49:09Z [Term] id: DOID:0112341 name: hereditary spastic paraplegia 80 alt_id: DOID:9000479 def: "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. (DO)" [PMID:30929741 "DO"] synonym: "autosomal dominant spastic paraplegia 80" EXACT [] synonym: "SPG80" EXACT [] synonym: "UBAP1-RELATED CONDITION" EXACT [] xref: MIM:618418 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:51:25Z [Term] id: DOID:0112342 name: hereditary spastic paraplegia 86 alt_id: DOID:9000731 def: "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. (DO)" [PMID:34489854 "DO", PMID:34866177 "DO"] synonym: "spastic paraplegia 86 autosomal recessive" EXACT [] synonym: "SPG86" EXACT [] xref: MIM:619735 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:54:24Z [Term] id: DOID:0112343 name: hereditary spastic paraplegia 82 alt_id: DOID:9003993 def: "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. (DO)" [PMID:31637422 "DO"] synonym: "spastic paraplegia 82 autosomal recessive" EXACT [] synonym: "SPG82" EXACT [] xref: MIM:618770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:56:53Z [Term] id: DOID:0112344 name: hereditary spastic paraplegia 79B alt_id: DOID:9002985 def: "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)" [PMID:28007905 "DO"] synonym: "autosomal recessive spastic paraplegia 79" RELATED [] synonym: "autosomal recessive spastic paraplegia 79B" EXACT [] synonym: "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" EXACT [] synonym: "NDGOA" EXACT [] synonym: "neurodegeneration with optic atrophy, childhood-onset" EXACT [] synonym: "SPG79" RELATED [] synonym: "SPG79B" EXACT [] xref: MIM:615491 xref: ORDO:352654 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:58:55Z [Term] id: DOID:0112345 name: hereditary spastic paraplegia 85 alt_id: DOID:9002197 def: "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. (DO)" [PMID:31636353 "DO"] synonym: "RNF170-RELATED CONDITION" BROAD [] synonym: "spastic paraplegia 85 autosomal recessive" EXACT [] synonym: "SPG85" EXACT [] xref: MIM:619686 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:00:45Z [Term] id: DOID:0112346 name: hereditary spastic paraplegia 83 alt_id: DOID:9006133 def: "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. (DO)" [PMID:32707086 "DO"] synonym: "spastic paraplegia 83 autosomal recessive" EXACT [] synonym: "SPG83" EXACT [] xref: MIM:619027 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:02:39Z [Term] id: DOID:0112347 name: hereditary spastic paraplegia 84 alt_id: DOID:9000072 def: "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. (DO)" [PMID:34415322 "DO"] synonym: "spastic paraplegia 84 autosomal recessive" EXACT [] synonym: "SPG84" EXACT [] xref: EFO:0020858 xref: MIM:619621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:04:06Z [Term] id: DOID:0112348 name: hereditary spastic paraplegia 78 alt_id: DOID:9003368 def: "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. (DO)" [PMID:28137957 "DO"] synonym: "ATP13A2-RELATED CONDITION" BROAD [] synonym: "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78" EXACT [] synonym: "spastic paraplegia 78 autosomal recessive" EXACT [] synonym: "SPG78" EXACT [] xref: MIM:617225 xref: ORDO:513436 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:05:29Z [Term] id: DOID:0112349 name: hereditary spastic paraplegia 81 alt_id: DOID:9005550 def: "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. (DO)" [PMID:28052917 "DO", PMID:29500230 "DO"] synonym: "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" EXACT [] synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [] synonym: "spastic paraplegia 81 autosomal recessive" EXACT [] synonym: "SPG81" EXACT [] xref: MIM:618768 xref: ORDO:506353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:07:23Z [Term] id: DOID:0112350 name: spermatogenic failure 61 alt_id: DOID:9003991 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. (DO)" [PMID:31125047 "DO", PMID:31682730 "DO"] synonym: "SPGF61" EXACT [] synonym: "STAG3-RELATED CONDITION" BROAD [] xref: MIM:619672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:08:57Z [Term] id: DOID:0112351 name: spermatogenic failure 62 alt_id: DOID:9000031 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. (DO)" [PMID:31125047 "DO"] synonym: "SPGF62" EXACT [] xref: MIM:619673 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:12:31Z [Term] id: DOID:0112352 name: spermatogenic failure 58 alt_id: DOID:9005122 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. (DO)" [PMID:33689014 "DO"] synonym: "MMAF" EXACT [] synonym: "MULTIPLE MORPHOLOGICAL ANOMALIES OF SPERM FLAGELLA" EXACT [] synonym: "SPGF58" EXACT [] xref: MIM:619585 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:14:03Z [Term] id: DOID:0112353 name: spermatogenic failure 64 alt_id: DOID:9000302 def: "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. (DO)" [PMID:30878252 "DO", PMID:34595750 "DO"] synonym: "SPGF64" EXACT [] xref: MIM:619696 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:16:36Z [Term] id: DOID:0112354 name: spermatogenic failure 65 alt_id: DOID:9003804 def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. (DO)" [PMID:34932939 "DO"] synonym: "DNHD1-RELATED CONDITION" EXACT [] synonym: "SPGF65" EXACT [] xref: MIM:619712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:17:35Z [Term] id: DOID:0112355 name: spermatogenic failure 60 alt_id: DOID:9000091 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. (DO)" [PMID:32741963 "DO"] synonym: "SPGF 60" EXACT [] synonym: "SPGF60" EXACT [] xref: MIM:619646 xref: MONDO:0030493 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:18:49Z [Term] id: DOID:0112356 name: spermatogenic failure 63 alt_id: DOID:9002940 def: "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. (DO)" [PMID:32111475 "DO"] synonym: "SPGF63" EXACT [] xref: MIM:619689 xref: MONDO:0030515 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:20:36Z [Term] id: DOID:0112357 name: spermatogenic failure 59 alt_id: DOID:9002386 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. (DO)" [PMID:33211200 "DO"] synonym: "SPGF59" EXACT [] xref: MIM:619645 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:22:02Z [Term] id: DOID:0112358 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 alt_id: DOID:9005035 def: "A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. (DO)" [PMID:33308444 "DO"] synonym: "SSFSC2" EXACT [] xref: MIM:619184 xref: MONDO:0030953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004675 ! Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies created_by: mtutaj creation_date: 2022-04-28T16:56:25Z [Term] id: DOID:0112359 name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay alt_id: DOID:9006401 def: "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (DO)" [PMID:28566479 "DO", PMID:29036646 "DO"] synonym: "CAKUTHED" EXACT [] synonym: "PBX1-related condition" BROAD [] synonym: "PBX1-RELATED INTELLECTUAL DISABILITY AND PLEIOTROPIC DEVELOPMENTAL DEFECTS" NARROW [] xref: MIM:617641 xref: MONDO:0060549 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:18 ! urinary system disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2022-04-28T17:06:04Z [Term] id: DOID:0112360 name: spondylocostal dysostosis 6 alt_id: DOID:9007515 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. (DO)" [PMID:25343988 "DO"] synonym: "RIPPLY2-RELATED CONDITION" EXACT [] synonym: "SCDO6" EXACT [] synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT [] xref: MIM:616566 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:47:47Z [Term] id: DOID:0112361 name: spondylocostal dysostosis 3 alt_id: DOID:9008439 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. (DO)" [PMID:16385447 "DO"] synonym: "LFNG-related condition" BROAD [] synonym: "SCDO3" EXACT [] synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT [] xref: MIM:609813 xref: MONDO:0012349 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:50:44Z [Term] id: DOID:0112362 name: spondylocostal dysostosis 2 alt_id: DOID:9001037 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. (DO)" [PMID:15122512 "DO"] synonym: "MESP2-RELATED CONDITION" EXACT [] synonym: "SCDO2" EXACT [] synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT [] synonym: "spondylocostal dysostosis type 2" EXACT [] xref: MIM:608681 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:52:45Z [Term] id: DOID:0112363 name: spondylocostal dysostosis 5 alt_id: DOID:9005408 def: "A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)" [PMID:23335591 "DO", PMID:25564734 "DO"] synonym: "congenital scoliosis with or without rib anomalies" EXACT [] synonym: "SCDO5" EXACT [] synonym: "SPONDYLOCOSTAL DYSPLASIA" RELATED [] synonym: "spondylothoracic dysostosis" EXACT [] synonym: "TACS" EXACT [] synonym: "TBX6-associated congenital scoliosis" EXACT [] synonym: "TBX6-RELATED CONDITION" EXACT [] xref: MIM:122600 xref: MONDO:0007389 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050739 ! autosomal genetic disease created_by: mtutaj creation_date: 2022-04-28T18:55:10Z [Term] id: DOID:0112364 name: spondylocostal dysostosis 4 alt_id: DOID:9008362 def: "A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. (DO)" [PMID:18775957 "DO"] synonym: "HES7-RELATED CONDITION" EXACT [] synonym: "SCDO4" EXACT [] synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [] xref: MIM:613686 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:57:17Z [Term] id: DOID:0112365 name: spondylocostal dysostosis 1 alt_id: DOID:9007004 alt_id: MIM:277300 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. (DO)" [PMID:10742114 "DO"] synonym: "autosomal recessive spondylocostal dysostosis 1" EXACT [] synonym: "costovertebral dysplasia" EXACT [] synonym: "DLL3-RELATED CONDITION" EXACT [] synonym: "DLL3-related disorder" EXACT [] synonym: "Jarcho-Levin syndrome" EXACT [] synonym: "SCDO1" EXACT [] synonym: "spondylocostal dysplasia, recessive form" EXACT [] synonym: "spondylothoracic dysostosis" EXACT [] xref: MESH:C537565 is_a: DOID:225 ! syndrome is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009073 ! Diaphragmatic Hernia created_by: mtutaj creation_date: 2022-04-28T18:59:07Z [Term] id: DOID:0112367 name: Coffin-Siris syndrome 8 alt_id: DOID:9002142 def: "A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. (DO)" [PMID:30580808 "DO"] synonym: "CSS8" EXACT [] synonym: "SMARCC2-RELATED BAFOPATHY" EXACT [] synonym: "SMARCC2-RELATED CONDITION" EXACT [] xref: MIM:618362 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-02T23:15:08Z [Term] id: DOID:0112368 name: Coffin-Siris syndrome 5 alt_id: DOID:9009053 def: "A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (DO)" [PMID:22426308 "DO", PMID:23906836 "DO"] synonym: "CSS5" EXACT [] xref: MIM:616938 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-02T23:17:26Z [Term] id: DOID:0112369 name: Coffin-Siris syndrome 7 alt_id: DOID:9009178 def: "A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. (DO)" [PMID:29429572 "DO"] synonym: "CSS7" EXACT [] synonym: "DPF2-related condition" BROAD [] xref: MIM:618027 xref: MONDO:0054831 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T07:59:31Z [Term] id: DOID:0112370 name: Coffin-Siris syndrome 12 alt_id: DOID:9003485 def: "A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. (DO)" [PMID:33232675 "DO"] synonym: "BICRA-RELATED CONDITION" EXACT [] synonym: "CSS12" EXACT [] xref: MIM:619325 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T08:02:29Z [Term] id: DOID:0112371 name: Coffin-Siris syndrome 10 alt_id: DOID:9001894 def: "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. (DO)" [PMID:30661772 "DO"] synonym: "CSS10" EXACT [] synonym: "IDDSDF" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES" EXACT [] synonym: "SOX4-RELATED CONDITION" EXACT [] xref: MIM:618506 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T08:04:02Z [Term] id: DOID:0112372 name: Coffin-Siris syndrome 11 alt_id: DOID:9006260 def: "A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. (DO)" [PMID:30879640 "DO"] synonym: "CSS11" EXACT [] xref: MIM:618779 xref: MONDO:0032912 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T08:05:39Z [Term] id: DOID:0112373 name: autosomal dominant auditory neuropathy 3 alt_id: DOID:9002849 def: "An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. (DO)" [PMID:34050020 "DO"] synonym: "AUNA3" EXACT [] xref: MIM:619832 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy created_by: mtutaj creation_date: 2022-06-03T08:07:27Z [Term] id: DOID:0112374 name: muscular dystrophy-dystroglycanopathy def: "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. (DO)" [PMID:19299310 "DO"] comment: On 2022-06-02, DOID:0050588 [muscular dystrophy-dystroglycanopathy] has been renamed to [muscular dystrophy-dystroglycanopathy type B1] -- thank you DO :-( synonym: "CMD due to dystroglycanopathy" EXACT [] synonym: "congenital muscular dystrophy due to dystroglycanopathy" EXACT [] synonym: "MDDG" EXACT [] xref: MONDO:0018276 xref: ORDO:370953 is_a: DOID:0050557 ! congenital muscular dystrophy created_by: mtutaj creation_date: 2022-06-02T19:28:16Z [Term] id: DOID:0112375 name: muscular dystrophy-dystroglycanopathy type B def: "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. (DO)" [PMID:15792865 "DO", PMID:17878207 "DO"] synonym: "MDDGB" EXACT [] xref: MIM:PS613155 is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy created_by: mtutaj creation_date: 2022-06-02T19:35:43Z [Term] id: DOID:0112376 name: muscular dystrophy-dystroglycanopathy type B15 alt_id: DOID:9001076 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. (DO)" [PMID:31469168 "DO"] synonym: "congenital muscular dystrophy, DPM3-related" EXACT [] synonym: "MDDGB15" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15" EXACT [] xref: MIM:618992 xref: MONDO:0033556 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B created_by: mtutaj creation_date: 2022-06-03T09:09:25Z [Term] id: DOID:0112377 name: muscular dystrophy-dystroglycanopathy type B14 alt_id: DOID:9000748 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. (DO)" [PMID:23768512 "DO"] synonym: "congenital muscular dystrophy, GMPPB-related" EXACT [] synonym: "MDDGB14" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" EXACT [] xref: MIM:615351 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2022-06-03T09:11:18Z [Term] id: DOID:0112378 name: muscular dystrophy-dystroglycanopathy type B3 alt_id: DOID:9008630 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. (DO)" [PMID:19067344 "DO", PMID:19299310 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B3" EXACT [] synonym: "congenital muscular dystrophy, POMGNT1-related" EXACT [] synonym: "MDDGB3" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3" EXACT [] xref: MIM:613151 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2022-06-03T09:15:28Z [Term] id: DOID:0112379 name: muscular dystrophy-dystroglycanopathy type B4 alt_id: DOID:9005845 def: "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. (DO)" [PMID:17878207 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy without impaired intellectual development, type B4" EXACT [] synonym: "congenital muscular dystrophy, FKTN-related" EXACT [] synonym: "MDDGB4" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" EXACT [] xref: MIM:613152 xref: MONDO:0013156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B created_by: mtutaj creation_date: 2022-06-03T09:45:53Z [Term] id: DOID:0112380 name: muscular dystrophy-dystroglycanopathy type B2 alt_id: DOID:9005669 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)" [PMID:17634419 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2" EXACT [] synonym: "congenital muscular dystrophy, POMT2-related" EXACT [] synonym: "MDDGB2" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2" EXACT [] xref: MIM:613156 xref: NCI:C126690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2022-06-03T09:49:42Z [Term] id: DOID:0112381 name: muscular dystrophy-dystroglycanopathy type C12 alt_id: DOID:9006042 def: "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. (DO)" [PMID:24925318 "DO"] synonym: "LGMD due to POMK deficiency" EXACT [] synonym: "Limb-girdle muscular dystrophy due to POMK deficiency" EXACT [] synonym: "MDDGC12" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED" EXACT [] xref: EFO:0010955 xref: MIM:616094 xref: ORDO:445110 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy created_by: mtutaj creation_date: 2022-06-03T09:51:37Z [Term] id: DOID:0112382 name: muscular dystrophy-dystroglycanopathy type C8 alt_id: DOID:9001671 def: "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. (DO)" [PMID:27066570 "DO"] synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy 24" EXACT [] synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24" EXACT [] synonym: "LGMDR24" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy (type C8)" EXACT [] synonym: "MDDGC8" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED" EXACT [] xref: MIM:618135 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy created_by: mtutaj creation_date: 2022-06-03T09:56:53Z [Term] id: DOID:0112383 name: KINSSHIP syndrome alt_id: DOID:9001233 def: "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (DO)" [PMID:18616733 "DO", PMID:33961779 "DO"] synonym: "AFF3-RELATED CONDITION" EXACT [] synonym: "horseshoe KIdney, Nievergelt/Savarirayan mesomelic dysplasia, Seizures, Hypertrichosis, impaired Intellectual development, Pulmonary involvement" EXACT [] synonym: "KINS" EXACT [] synonym: "MESOMELIC DYSPLASIA, AFF3-RELATED" EXACT [] synonym: "MESOMELIC DYSPLASIA, STEICHEN-GERSDORF TYPE" EXACT [] xref: MIM:619297 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:9008086 ! Developmental Disabilities is_a: DOID:9009006 ! Mesomelic Dysplasia created_by: mtutaj creation_date: 2022-06-03T10:27:42Z [Term] id: DOID:070355 name: multisystem proteinopathy def: "A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. (DO)" [https://n.neurology.org/content/85/8/658 "DO"] is_a: DOID:231 ! motor neuron disease [Term] id: DOID:100 name: intestinal infectious disease def: "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. (DO)" [http://en.wikipedia.org/wiki/Intestine "DO"] synonym: "bacterial enteritis" EXACT [] xref: ICD10CM:A00-A09 xref: ICD9CM:001-009.99 xref: RDO:9004384 is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10003 name: sensorineural hearing loss def: "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)" [https://medlineplus.gov/ency/article/003291.htm "DO"] synonym: "autosomal dominant deafness with peripheral neuropathy" NARROW [] synonym: "bilateral sensorineural hearing impairment" NARROW [] synonym: "central hearing loss" EXACT [] synonym: "cochlear hearing loss" EXACT [] synonym: "CONGENITAL SENSORINEURAL HEARING IMPAIRMENT" NARROW [] synonym: "perceptive deafness" EXACT [] synonym: "perceptive hearing loss" EXACT [] synonym: "perceptive hearing loss or deafness" EXACT [] synonym: "progressive sensorineural hearing impairment" NARROW [] synonym: "sensorineural deafness" EXACT [] synonym: "sensorineural hearing loss disorder" EXACT [] synonym: "sensory hearing loss" EXACT [] xref: EFO:1001176 xref: ICD10CM:H90.5 xref: ICD9CM:389.1 xref: MESH:D006319 xref: NCI:C26739 xref: NCI:C34662 is_a: DOID:2952 ! inner ear disease is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:10011 name: thyroid lymphoma def: "A thyroid gland cancer that has_material_basis_in lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK544282/ "DO"] xref: NCI:C5265 is_a: DOID:0060058 ! lymphoma is_a: DOID:1781 ! thyroid cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10016 name: multiple endocrine neoplasia type 2B alt_id: MIM:162300 def: "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. (DO)" [http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b "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_2b_men_2b.html "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO", PMID:15965261 "DO"] synonym: "MEA 2b" EXACT [] synonym: "MEA IIb" EXACT [] synonym: "MEN 2b" EXACT [] synonym: "MEN2b" EXACT [] synonym: "MEN 3" EXACT [] synonym: "MEN3" NARROW [] synonym: "MEN IIb" EXACT [] synonym: "MEN III" EXACT [] synonym: "MEN type IIB" EXACT [] synonym: "MUCOSAL NEUROMA SYNDROME" NARROW [] synonym: "mucosal neuroma syndromes" EXACT [] synonym: "mucosal neuromata with endocrine tumors" EXACT [] synonym: "multiple endocrine neoplasia, type 3" EXACT [] synonym: "Multiple Endocrine Neoplasia, Type IIb" EXACT [] synonym: "MULTIPLE ENDOCRINE NEOPLASIA, TYPE III" NARROW [] synonym: "multiple endocrine neoplasms type 2B" EXACT [] synonym: "Wagenmann Froboese syndrome" EXACT [] xref: ICD10CM:E31.23 xref: ICD9CM:258.03 xref: MESH:D018814 xref: NCI:C3227 xref: ORDO:247709 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:10017 name: multiple endocrine neoplasia type 1 alt_id: MIM:131100 def: "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. (DO)" [http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 "DO", http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm "DO", PMID:25509899 "DO"] synonym: "MEA 1" EXACT [] synonym: "MEA I" EXACT [] synonym: "MEN 1" EXACT [] synonym: "MEN1" EXACT [] synonym: "MEN1-RELATED CONDITION" EXACT [] synonym: "MEN I" EXACT [] synonym: "MEN type I" EXACT [] synonym: "multiple endocrine neoplasia type I" EXACT [] synonym: "multiple endocrine neoplasms type 1" EXACT [] synonym: "multiple endocrine neoplasms type I" EXACT [] synonym: "Wermer's syndrome" EXACT [] synonym: "Wermer syndrome" EXACT [] synonym: "Wermer syndrome MEN1 somatic mutations" NARROW [] xref: GARD:3829 xref: ICD10CM:E31.21 xref: ICD9CM:258.01 xref: MESH:D018761 xref: NCI:C3225 xref: ORDO:652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:1002 name: endometritis def: "An endometrial disease that is characterized by inflammation of the endometrium. (DO)" [PMID:7511354 "DO"] synonym: "endomyometritis" EXACT [] xref: EFO:1001312 xref: MESH:D004716 xref: NCI:C26764 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:1005 ! endometrial disease is_a: DOID:345 ! uterine disease [Term] id: DOID:10020 name: ampulla of Vater cancer def: "A duodenum cancer that is located_in the ampulla of Vater. (DO)" [PMID:25485917 "DO"] synonym: "malignant tumour of ampulla of Vater" EXACT [] xref: ICD10CM:C24.1 xref: ICD9CM:156.2 xref: NCI:C3536 is_a: DOID:10021 ! duodenum cancer is_a: DOID:4606 ! bile duct cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:10021 name: duodenum cancer def: "A small intestine cancer that is located_in the beginning section of the small intestine. (DO)" [http://en.wikipedia.org/wiki/Duodenal_cancer "DO"] synonym: "cancer of duodenum" EXACT [] synonym: "duodenal cancer" EXACT [] xref: ICD10CM:C17.0 xref: ICD9CM:152.0 xref: NCI:C4803 xref: NCI:C9328 is_a: DOID:10154 ! small intestine cancer is_a: DOID:9000256 ! Duodenal Neoplasms created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:10022 name: ampulla of Vater benign neoplasm def: "A duodenal benign neoplasm that is located_in the ampulla of Vater. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/ "DO"] synonym: "tumor of the ampulla of Vater" EXACT [] xref: NCI:C4443 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:1737 ! duodenal benign neoplasm is_a: DOID:4138 ! bile duct disease [Term] id: DOID:10024 name: migraine with aura alt_id: MIM:609179 alt_id: MIM:609670 def: "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO", http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 "DO"] synonym: "acute onset aura migraine" EXACT [] synonym: "basilar artery migraine" EXACT [] synonym: "basilar migraine" EXACT [] synonym: "basilar migraines" EXACT [] synonym: "basilar type migraine" EXACT [] synonym: "Classical Migraine" EXACT [] synonym: "Classic Migraine" EXACT [] synonym: "Complicated Migraine" EXACT [] synonym: "Hemiplegic-Ophthalmoplegic Migraine" EXACT [] synonym: "MGR13" RELATED [] synonym: "MGR7" RELATED [] synonym: "MGR9" RELATED [] synonym: "Migraine Aura without Headache" EXACT [] synonym: "Migraine with Acute Onset Aura" EXACT [] synonym: "migraine with auras" EXACT [] synonym: "migraine with aura, susceptibility to, 7" RELATED [] synonym: "migraine with aura, susceptibility to, 9" RELATED [] synonym: "migraine with prolonged aura" EXACT [] synonym: "migraine with typical aura" EXACT [] synonym: "prolonged aura migraine" EXACT [] synonym: "typical aura without headache" EXACT [] xref: EFO:0005295 xref: ICD10CM:G43.1 xref: ICD9CM:346.0 xref: MESH:D020325 xref: MONDO:0005475 xref: NCI:C117005 is_a: DOID:6364 ! migraine [Term] id: DOID:10027 name: tabes dorsalis alt_id: DOID:9001841 def: "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO", http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm "DO"] synonym: "Locomotor Ataxia" EXACT [] synonym: "Locomotor Ataxias" EXACT [] synonym: "Myelosyphilis" EXACT [] synonym: "posterior spinal sclerosis" EXACT [] synonym: "Spinal Cord Syphilis" EXACT [] synonym: "Spinal Meningovascular Syphilis" EXACT [] synonym: "Syphilitic Meningomyelitis" EXACT [] synonym: "Syphilitic Myelopathy (tabes dorsalis)" EXACT [] synonym: "tabes dorsalis - neurosyphilis" EXACT [] synonym: "Tabes Spinalis" EXACT [] synonym: "Tabetic Neurosyphilis" EXACT [] xref: EFO:0007505 xref: GARD:8730 xref: ICD10CM:A52.11 xref: ICD9CM:094.0 xref: MESH:C536776 xref: MESH:D013606 xref: MONDO:0005977 xref: NCI:C35057 is_a: DOID:319 ! spinal cord disease is_a: DOID:9001414 ! Neurosyphilis is_a: DOID:9988 ! tertiary neurosyphilis [Term] id: DOID:1003 name: pelvic inflammatory disease def: "A female reproductive system disease that is characterized by an infection of the female reproductive organs. (DO)" [PMID:25992748 "DO"] synonym: "adnexitis" EXACT [] synonym: "inflammatory pelvic diseases" EXACT [] synonym: "PID" EXACT [] xref: EFO:1001388 xref: ICD10CM:N73.9 xref: ICD9CM:614.9 xref: MESH:D000292 xref: MONDO:0000922 xref: NCI:C3889 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9000129 ! Pelvic Infection is_a: DOID:9003261 ! Adnexal Diseases [Term] id: DOID:10030 name: pulmonary interstitial emphysema def: "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. (DO)" [https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us "DO", https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html "DO"] synonym: "interstitial emphysema" EXACT [] xref: ICD10CM:J98.2 xref: ICD9CM:518.1 xref: NCI:C34571 is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema [Term] id: DOID:10031 name: compensatory emphysema def: "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. (DO)" [https://en.wikipedia.org/wiki/Pneumatosis "DO", https://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27 "DO"] xref: ICD10CM:J98.3 xref: ICD9CM:518.2 is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema [Term] id: DOID:10032 name: hyperlucent lung def: "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT. (DO)" [https://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/ "DO"] synonym: "Hyperlucent Lungs" EXACT [] synonym: "Hyperlucent Thorax" EXACT [] synonym: "MacLeod Syndrome" EXACT [] synonym: "Swyer James Syndrome" EXACT [] synonym: "Unilateral Hyperlucent Lung" EXACT [] synonym: "Unilateral Hyperlucent Lungs" EXACT [] xref: MESH:D019568 is_a: DOID:850 ! lung disease is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema [Term] id: DOID:10033 name: cycloplegia def: "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. (DO)" [https://en.wikipedia.org/wiki/Cycloplegia "DO"] synonym: "ciliary muscle paresis" EXACT [] synonym: "cycloplegic paralysis of accommodation" EXACT [] synonym: "paresis of accommodation" EXACT [] xref: EFO:0005758 xref: ICD10CM:H52.52 xref: ICD9CM:367.51 is_a: DOID:10034 ! eye accommodation disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10034 name: eye accommodation disease def: "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image. (DO)" [PMID:20582770 "DO"] xref: ICD10CM:H52.5 xref: ICD9CM:367.5 xref: MONDO:0000926 is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10035 name: asymptomatic neurosyphilis def: "A tertiary neurosyphilis that results_in mild meningitis. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] xref: ICD10CM:A52.2 xref: ICD9CM:094.3 xref: RDO:9002434 is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10039 name: late congenital syphilis def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. (DO)" [http://en.wikipedia.org/wiki/Late_congenital_syphilis "DO", http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"] synonym: "juvenile neurosyphilis" EXACT [] xref: EFO:0007339 xref: ICD10CM:A50.40 xref: ICD10CM:A50.5 xref: ICD9CM:090.4 xref: ICD9CM:090.5 xref: MONDO:0005821 is_a: DOID:9856 ! congenital syphilis is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10040 name: malignant eyelid melanoma def: "A skin melanoma that arises from the upper or lower eyelid. (DO)" [https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid "DO"] xref: NCI:C4358 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:2173 ! eyelid benign neoplasm is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10041 name: dysplastic nevus syndrome def: "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome "DO"] synonym: "B K mole syndrome" EXACT [] synonym: "dysplastic nevi" EXACT [] synonym: "dysplastic nevus" EXACT [] synonym: "familial atypical multiple mole-melanoma" EXACT [] synonym: "FAMMM" EXACT [] synonym: "FAMM syndrome" EXACT [] xref: EFO:0004199 xref: GARD:9281 xref: MESH:D004416 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9002969 ! Nevus is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:10044 name: balloon cell malignant melanoma def: "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. (DO)" [PMID:27984232 "DO"] xref: NCI:C4227 is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10047 name: nodular malignant melanoma def: "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. (DO)" [http://en.wikipedia.org/wiki/Nodular_melanoma "DO", http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/ "DO"] synonym: "nodular melanoma" EXACT [] xref: EFO:0008515 xref: GARD:9961 xref: MONDO:0000930 xref: NCI:C4225 is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1005 name: endometrial disease def: "A uterine disease that is located_in the endometrium. (DO)" [PMID:25100707 "DO"] synonym: "endometrial diseases" EXACT [] xref: NCI:C3504 is_a: DOID:345 ! uterine disease [Term] id: DOID:10054 name: skin amelanotic melanoma def: "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. (DO)" [https://dermnetnz.org/topics/amelanotic-melanoma/ "DO"] synonym: "skin amelanotic malignant melanoma" EXACT [] xref: EFO:0002894 xref: NCI:C4633 is_a: DOID:4359 ! amelanotic melanoma is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10069 name: subglottis benign neoplasm def: "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427 "DO"] synonym: "subglottic tumor" EXACT [] xref: NCI:C4426 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10070 name: larynx leiomyoma def: "A laryngeal benign neoplasm that derives_from smooth muscle cells. (DO)" [PMID:20737370 "DO"] xref: NCI:C6027 is_a: DOID:127 ! leiomyoma is_a: DOID:2598 ! laryngeal benign neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10071 name: larynx squamous papilloma def: "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562327/ "DO"] synonym: "Laryngeal Squamous Cell Papilloma" EXACT [] xref: NCI:C7742 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10073 name: syphilitic meningitis def: "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord. (DO)" [https://medlineplus.gov/ency/article/000724.htm "DO"] synonym: "meningeal syphilis" EXACT [] synonym: "syphilitic aseptic meningitis" EXACT [] xref: GARD:8731 xref: ICD9CM:094.2 xref: MESH:C536775 is_a: DOID:9001414 ! Neurosyphilis is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:10074 name: hymenolepiasis def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. (DO)" [http://en.wikipedia.org/wiki/Hymenolepiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm "DO"] synonym: "dwarf tapeworm infection" EXACT [] synonym: "Hymenolepiases" EXACT [] synonym: "Hymenolepis Infection" EXACT [] synonym: "Hymenolepis Infections" EXACT [] synonym: "hymenolepis infectious disease" EXACT [] xref: EFO:0007317 xref: GARD:2787 xref: ICD10CM:B71.0 xref: ICD9CM:123.6 xref: MESH:D006925 xref: NCI:C84768 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:10075 name: diphyllobothriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. (DO)" [http://en.wikipedia.org/wiki/Diphyllobothrium "DO", http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm "DO"] synonym: "Diphyllobothriases" EXACT [] synonym: "Diphyllobothrium infection" EXACT [] synonym: "fish tapeworm" EXACT [] xref: EFO:0007238 xref: GARD:942 xref: ICD10CM:B70.0 xref: ICD9CM:123.4 xref: MESH:D004169 xref: NCI:C128391 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:10079 name: cysticercosis def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. (DO)" [http://en.wikipedia.org/wiki/Cysticercosis "DO"] synonym: "cysticercoses" EXACT [] synonym: "intestinal taenia solium infection" EXACT [] synonym: "pork tapeworm infection" EXACT [] synonym: "tapeworm infection intestinal taenia solum" EXACT [] synonym: "tenia solium infectious disease" EXACT [] xref: EFO:0007231 xref: GARD:8194 xref: ICD10CM:B69 xref: ICD9CM:123.1 xref: MESH:D003551 xref: NCI:C34520 is_a: DOID:0050596 ! taeniasis is_a: DOID:114 ! heart disease is_a: DOID:5614 ! eye disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:10080 name: sparganosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. (DO)" [http://en.wikipedia.org/wiki/Sparganosis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm "DO"] synonym: "infection by Sparganum" EXACT [] synonym: "sparganoses" EXACT [] xref: EFO:0007488 xref: ICD10CM:B70.1 xref: ICD9CM:123.5 xref: MESH:D013031 xref: NCI:C35030 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:10075 ! diphyllobothriasis is_a: DOID:2952 ! inner ear disease is_a: DOID:3463 ! breast disease is_a: DOID:850 ! lung disease is_a: DOID:936 ! brain disease [Term] id: DOID:10081 name: syphilitic encephalitis def: "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum. (DO)" [https://link.springer.com/article/10.1007/s10072-017-3109-0 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/ "DO"] xref: ICD9CM:094.81 is_a: DOID:9003824 ! Infectious Encephalitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10087 name: gastric leiomyoma def: "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. (DO)" [https://radiopaedia.org/articles/gastric-leiomyoma?lang=us "DO"] synonym: "leiomyoma of the stomach" EXACT [] xref: NCI:C3876 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10095 name: intracranial abscess def: "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. (DO)" [https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm "DO"] xref: ICD9CM:324.0 xref: NCI:C34734 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:10112 name: sleeping sickness def: "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. (DO)" [http://en.wikipedia.org/wiki/African_trypanosomiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm "DO", http://www.who.int/mediacentre/factsheets/fs259/en/ "DO"] synonym: "African sleeping sickness" EXACT [] synonym: "African trypanosomiasis" EXACT [] synonym: "human African trypanosomiasis" EXACT [] synonym: "Nagana" EXACT [] xref: EFO:0005225 xref: GARD:7826 xref: ICD10CM:B56 xref: ICD9CM:086.5 xref: MESH:D014353 xref: NCI:C84541 xref: ORDO:3385 is_a: DOID:10113 ! trypanosomiasis [Term] id: DOID:10113 name: trypanosomiasis def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. (DO)" [http://en.wikipedia.org/wiki/Trypanosomiasis "DO"] synonym: "Trypanosomiases" EXACT [] xref: ICD10CM:B57.2 xref: ICD9CM:086 xref: MESH:D014352 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9007293 ! Euglenozoa Infections [Term] id: DOID:10122 name: hyperpigmentation of eyelid alt_id: MIM:145100 def: "An eyelid disease that is characterized by dark eyelids. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/ "DO"] synonym: "dark eyelids" EXACT [] synonym: "dyspigmentation of eyelid" EXACT [] xref: EFO:1000711 xref: ICD10CM:H02.71 xref: ICD9CM:374.52 xref: MESH:C562400 is_a: DOID:530 ! eyelid disease is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:10123 name: pigmentation disease def: "A skin disease that is characterized by discoloration of the skin. (DO)" [https://medlineplus.gov/skinpigmentationdisorders.html "DO"] synonym: "Ito Syndrome" EXACT [] synonym: "Pigmentation Disorder" EXACT [] synonym: "Pigmentation Disorders" EXACT [] synonym: "Schamberg's disease" EXACT [] synonym: "Schamberg disease" EXACT [] synonym: "Schambergs disease" EXACT [] xref: EFO:1000755 xref: ICD9CM:709.09 xref: MESH:D010859 xref: MIM:PS227220 xref: MONDO:0019288 is_a: DOID:37 ! skin disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:10124 name: corneal disease def: "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731 "DO"] synonym: "corneal diseases" EXACT [] xref: EFO:0009464 xref: ICD10CM:H18.9 xref: ICD9CM:371.9 xref: MESH:D003316 xref: NCI:C26731 is_a: DOID:5614 ! eye disease [Term] id: DOID:10125 name: acute hydrops keratoconus def: "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. (DO)" [https://en.wikipedia.org/wiki/Corneal_hydrops "DO", https://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm "DO"] xref: ICD9CM:371.62 is_a: DOID:10126 ! keratoconus created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10126 name: keratoconus def: "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)" [http://en.wikipedia.org/wiki/Keratoconus "DO", http://ghr.nlm.nih.gov/glossary=keratoconus "DO"] synonym: "conical cornea" EXACT [] xref: EFO:0004223 xref: GARD:6824 xref: ICD10CM:H18.6 xref: ICD9CM:371.6 xref: MESH:D007640 xref: MIM:PS148300 xref: MONDO:0015486 xref: NCI:C26806 xref: ORDO:156071 is_a: DOID:10124 ! corneal disease [Term] id: DOID:10127 name: cerebral artery occlusion def: "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. (DO)" [PMID:8584085 "DO"] xref: ICD9CM:434 is_a: DOID:3527 ! cerebral arterial disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:10128 name: venous insufficiency def: "A vein disease that is characterized by impaired flow of blood through the veins. (DO)" [http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm "DO"] synonym: "peripheral venous insufficiency" EXACT [] synonym: "Venous Insufficiencies" EXACT [] xref: ICD9CM:459.81 xref: MESH:D014689 xref: NCI:C127822 is_a: DOID:866 ! vein disease [Term] id: DOID:10131 name: psychologic vaginismus def: "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. (DO)" [https://my.clevelandclinic.org/health/diseases/15723-vaginismus "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113 "DO"] synonym: "functional vaginismus" EXACT [] synonym: "non-organic vaginismus" EXACT [] synonym: "psychogenic vaginismus" EXACT [] synonym: "vaginismus" EXACT [] xref: ICD10CM:F52.5 xref: ICD9CM:306.51 xref: MESH:D052065 xref: MONDO:0000946 xref: NCI:C35113 is_a: DOID:10132 ! psychosexual disorder is_a: DOID:121 ! vaginal disease is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:10132 name: psychosexual disorder def: "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin. (DO)" [https://en.wikipedia.org/wiki/Psychosexual_disorder "DO"] synonym: "psychological sexual dysfunction" EXACT [] synonym: "psychological sexual dysfunctions" EXACT [] synonym: "psychosexual disorders" EXACT [] synonym: "psychosexual dysfunction" EXACT [] synonym: "psychosexual dysfunctions" EXACT [] xref: ICD9CM:302.79 is_a: DOID:0060043 ! sexual health disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10138 name: xerophthalmia def: "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. (DO)" [https://www.nature.com/articles/eye201417 "DO", https://www.ncbi.nlm.nih.gov/books/NBK431094/ "DO"] synonym: "conjunctival xerosis" EXACT [] synonym: "Xerophthalmias" EXACT [] xref: ICD10CM:E50.7 xref: ICD9CM:375.15 xref: MESH:D014985 xref: NCI:C34503 is_a: DOID:10140 ! dry eye syndrome is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:10139 name: conjunctival degeneration xref: ICD10CM:H11.10 xref: ICD9CM:372.50 is_a: DOID:4251 ! conjunctival disease is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10140 name: dry eye syndrome def: "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. (DO)" [PMID:29498987 "DO"] synonym: "dry eye disease" EXACT [] synonym: "dry eye syndromes" EXACT [] synonym: "tear film insufficiency" EXACT [] xref: EFO:1000906 xref: ICD10CM:H04.12 xref: MESH:D015352 xref: MONDO:0006733 xref: NCI:C34553 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:10146 name: thymus lymphoma def: "A thymus cancer that arises from the thymus. (DO)" [PMID:12063471 "DO"] synonym: "lymphoma of thymus" EXACT [] synonym: "primary thymic lymphoma" EXACT [] synonym: "thymic lymphoma" EXACT [] xref: EFO:1000054 xref: NCI:C134997 xref: NCI:C6451 is_a: DOID:0060058 ! lymphoma is_a: DOID:3277 ! thymus cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10149 name: long bones of lower limb cancer def: "A bone cancer that is manifested in the long bones of the lower limb. (DO)" [http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm "DO"] synonym: "malignant neoplasm of long bones of leg" EXACT [] xref: ICD10CM:C40.2 xref: ICD9CM:170.7 xref: MONDO:0000952 is_a: DOID:184 ! bone cancer [Term] id: DOID:10151 name: malignant neoplasm of short bones of lower limb def: "A bone cancer that is located in the short bones of lower limbs. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/ "DO"] synonym: "cancer of short bone of lower limb" EXACT [] synonym: "malignant neoplasm of short bone of lower limb" EXACT [] synonym: "malignant neoplasm of short bones of leg" EXACT [] xref: ICD10CM:C40.3 xref: ICD9CM:170.8 xref: MONDO:0000953 is_a: DOID:10149 ! long bones of lower limb cancer [Term] id: DOID:10152 name: Meckel's diverticulum cancer def: "An ileum cancer originating from Meckel's diverticulum. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6582065/ "DO"] synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [] synonym: "Meckel diverticulum cancer" EXACT [] xref: ICD9CM:152.3 is_a: DOID:10153 ! ileum cancer [Term] id: DOID:10153 name: ileum cancer def: "A small intestine cancer that is located_in the ileum. (DO)" [http://en.wikipedia.org/wiki/Ileum "DO"] synonym: "cancer of ileum" EXACT [] synonym: "cancer of the ileum" EXACT [] synonym: "ileal cancer" EXACT [] synonym: "ileal cancers" EXACT [] synonym: "ileum cancers" EXACT [] synonym: "malignant neoplasm of ileum" EXACT [] xref: ICD10CM:C17.2 xref: ICD9CM:152.2 is_a: DOID:10154 ! small intestine cancer is_a: DOID:9000670 ! Ileal Neoplasms [Term] id: DOID:10154 name: small intestine cancer def: "An intestinal cancer that is located_in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Small_intestine "DO"] synonym: "malignant small intestine neoplasm" EXACT [] xref: GARD:9385 xref: ICD10CM:C17 xref: ICD9CM:152.9 xref: MONDO:0000956 xref: NCI:C7523 is_a: DOID:10155 ! intestinal cancer created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:10155 name: intestinal cancer def: "A gastrointestinal system cancer that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Intestine "DO"] synonym: "intestinal cancers" EXACT [] synonym: "intestines cancer" EXACT [] synonym: "malignant intestinal tumors" EXACT [] synonym: "malignant neoplasm of intestine" EXACT [] xref: EFO:0007330 xref: ICD10CM:C26.0 xref: ICD9CM:159.0 xref: NCI:C4572 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9002245 ! Intestinal Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10156 name: benign ileal neoplasm def: "A small intestine benign neoplasm that affects the wall of the ileum. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130 "DO"] is_a: DOID:7505 ! small intestine benign neoplasm is_a: DOID:9000670 ! Ileal Neoplasms [Term] id: DOID:10159 name: osteonecrosis def: "An ischemic bone disease that results_in necrosis located_in bone. (DO)" [http://en.wikipedia.org/wiki/Avascular_necrosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm "DO"] synonym: "aseptic necrosis" EXACT [] synonym: "aseptic necrosis of bone" EXACT [] synonym: "avascular necrosis of bone" EXACT [] synonym: "bone aseptic necrosis" EXACT [] synonym: "bone avascular necrosis" EXACT [] synonym: "bone necroses" EXACT [] synonym: "bone necrosis" EXACT [] synonym: "Kienbock's Disease" NARROW [] synonym: "Kienbock Disease" NARROW [] synonym: "Kienboeck's disease" NARROW [] synonym: "Kienboeck Disease" NARROW [] synonym: "Kienboecks disease" NARROW [] synonym: "osteonecroses" EXACT [] xref: EFO:0004259 xref: ICD10CM:M87 xref: ICD10CM:M87.9 xref: ICD9CM:732.3 xref: ICD9CM:733.41 xref: ICD9CM:733.42 xref: ICD9CM:733.43 xref: ICD9CM:733.44 xref: MESH:D010020 xref: MIM:PS608805 xref: MONDO:0005380 xref: NCI:C34404 xref: NCI:C34841 xref: NCI:C34880 xref: NCI:C35226 xref: NCI:C35517 is_a: DOID:0080008 ! ischemic bone disease is_a: DOID:9005749 ! Necrosis [Term] id: DOID:10174 name: lacrimal passage granuloma synonym: "granuloma of lacrimal passages" EXACT [] xref: ICD10CM:H04.81 xref: ICD9CM:375.81 xref: MONDO:0000957 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease is_a: DOID:9002019 ! Granuloma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10175 name: optic papillitis def: "An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. (DO)" [https://en.wikipedia.org/wiki/Optic_papillitis "DO"] synonym: "papillitis" EXACT [] xref: EFO:1001074 xref: ICD10CM:H35.81 xref: ICD10CM:H47.1 xref: ICD10CM:H47.11 xref: ICD9CM:362.83 xref: ICD9CM:377.0 xref: ICD9CM:377.01 is_a: DOID:1210 ! optic neuritis is_a: DOID:146 ! papilledema [Term] id: DOID:10176 name: neuroretinitis def: "An eye disease that is characterized by inflammation of the retina. (DO)" [https://eyewiki.aao.org/Neuroretinitis "DO"] synonym: "juxtapapillary focal retinitis and retinochoroiditis" EXACT [] synonym: "papilloretinitis" EXACT [] is_a: DOID:3612 ! retinitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10177 name: malignant hypertensive renal disease xref: RDO:9002843 is_a: DOID:1073 ! renal hypertension is_a: DOID:10824 ! malignant hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10183 name: endobronchial lipoma def: "A lipoma that is located within the lumen of a bronchus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/ "DO"] xref: NCI:C5063 is_a: DOID:3315 ! lipoma is_a: DOID:3906 ! bronchial benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10184 name: spindle cell lipoma def: "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. (DO)" [http://en.wikipedia.org/wiki/Lipoma "DO"] xref: ICDO:8857/0 xref: NCI:C4254 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10187 name: esophageal lipoma def: "A lipoma located in the esophagus. (DO)" [https://radiopaedia.org/articles/oesophageal-lipoma?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/ "DO"] synonym: "lipoma of esophagus" EXACT [] xref: NCI:C5701 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:9000117 ! Esophageal Neoplasms created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10188 name: skin lipoma def: "A skin benign neoplasm that derives_from fat cells. (DO)" [PMID:23600336 "DO"] synonym: "cutaneous lipoma" EXACT [] synonym: "cutaneous lipomatous tumor" EXACT [] synonym: "lipoma of face" EXACT [] synonym: "lipoma of skin" EXACT [] xref: ICD9CM:214.0 xref: NCI:C4616 xref: NCI:C5566 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1019 name: osteomyelitis def: "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. (DO)" [http://en.wikipedia.org/wiki/Osteomyelitis "DO", http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx "DO", http://www.mayoclinic.com/health/osteomyelitis/DS00759 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm "DO"] synonym: "osteomyelitides" EXACT [] xref: EFO:0003102 xref: GARD:7286 xref: ICD9CM:730.1 xref: MESH:D010019 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1564 ! fungal infectious disease is_a: DOID:3342 ! bone inflammation disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9007047 ! Infectious Bone Diseases [Term] id: DOID:10190 name: liver lipoma def: "A lipoma located in the liver. (DO)" [https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us "DO"] synonym: "hepatic lipoma" EXACT [] synonym: "lipoma of the liver" EXACT [] xref: NCI:C5750 is_a: DOID:3315 ! lipoma is_a: DOID:916 ! liver benign neoplasm created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:10192 name: pleomorphic lipoma def: "A lipoma that is characterized by floret giant cells with overlapping nuclei. (DO)" [http://en.wikipedia.org/wiki/Pleomorphic_lipoma "DO"] synonym: "pleomorphic lipomas" EXACT [] xref: ICDO:8854/0 xref: NCI:C3703 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10193 name: conventional lipoma def: "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. (DO)" [PMID:26857660 "DO"] synonym: "classic type lipoma" EXACT [] xref: NCI:C27530 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10194 name: kidney lipoma def: "A lipoma that is located in the kidney. (DO)" [https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470 "DO"] synonym: "lipoma of kidney" EXACT [] xref: NCI:C5101 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10195 name: pleural lipoma def: "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. (DO)" [PMID:29222220 "DO"] synonym: "lipoma of pleura" EXACT [] xref: NCI:C6644 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:9000315 ! Pleural Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10199 name: breast lipoma def: "A breast benign neoplasm that is composed of lipocytes. (DO)" [https://en.wikipedia.org/wiki/Benign_tumor "DO"] synonym: "lipoma of breast" EXACT [] xref: NCI:C4647 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10200 name: chest wall lipoma def: "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. (DO)" [PMID:23919840 "DO"] synonym: "lipoma of the chest wall" EXACT [] xref: MONDO:0000971 xref: NCI:C6719 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10201 name: gallbladder lipoma def: "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. (DO)" [https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1 "DO"] synonym: "lipoma of the gallbladder" EXACT [] xref: NCI:C5835 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10203 name: external ear lipoma def: "An auditory system benign neoplasm that is located in the external ear. (DO)" [https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf "DO"] synonym: "external auditory meatus lipoma" EXACT [] synonym: "lipoma of external auditory meatus" EXACT [] synonym: "lipoma of the external ear" EXACT [] xref: NCI:C4618 is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10205 name: axillary lipoma def: "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. (DO)" [http://en.wikipedia.org/wiki/Axilla "DO", http://en.wikipedia.org/wiki/Lipoma "DO"] synonym: "lipoma of axilla" EXACT [] xref: NCI:C35419 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10206 name: lipoma of spermatic cord def: "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/ "DO"] synonym: "spermatic cord lipoma" EXACT [] xref: ICD9CM:214.4 xref: NCI:C3606 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:10207 ! paratesticular lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10207 name: paratesticular lipoma def: "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. (DO)" [PMID:11103506 "DO"] xref: NCI:C6384 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10208 name: chondroid lipoma def: "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. (DO)" [http://en.wikipedia.org/wiki/Lipoma "DO"] xref: ICDO:8862/0 xref: MONDO:0000977 xref: NCI:C6503 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10209 name: extrahepatic bile duct lipoma def: "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer "DO"] synonym: "Lipoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5854] xref: NCI:C5854 xref: RDO:9003931 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:4138 ! bile duct disease is_a: DOID:9002936 ! Bile Duct Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10211 name: cholelithiasis def: "Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." [MESH:D002769] synonym: "Cholelithiases" EXACT [] xref: EFO:0004799 xref: ICD9CM:574.5 xref: MESH:D002769 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:1022 name: pinta disease alt_id: DOID:9004242 def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. (DO)" [PMID:26304920 "DO"] synonym: "endemic treponematosis caused by Treponema carateum" EXACT [] synonym: "pinta" EXACT [] xref: EFO:1001396 xref: GARD:7397 xref: ICD10CM:A67.0 xref: ICD10CM:A67.1 xref: ICD10CM:A67.2 xref: ICD10CM:A67.3 xref: ICD10CM:A67.9 xref: ICD9CM:103 xref: ICD9CM:103.0 xref: ICD9CM:103.1 xref: ICD9CM:103.2 xref: ICD9CM:103.3 xref: MESH:C531782 xref: MESH:D010874 xref: MONDO:0000979 xref: NCI:C85011 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9000746 ! Treponemal Infections is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:10223 name: dermatomyositis def: "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. (DO)" [http://en.wikipedia.org/wiki/Dermatomyositis "DO", http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis "DO"] synonym: "dermatopolymyositis" EXACT [] synonym: "polymyositis-dermatomyositis" EXACT [] synonym: "polymyositis with skin involvement" EXACT [] synonym: "sclerodermatomyositis" NARROW [] xref: EFO:0000398 xref: EFO:1001995 xref: GARD:6263 xref: ICD10CM:M33 xref: ICD9CM:710.3 xref: MESH:D003882 xref: MONDO:0016367 xref: NCI:C26744 xref: ORDO:221 is_a: DOID:0080745 ! polymyositis is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:1023 name: borderline leprosy def: "A leprosy that results in small numerous red irregularly shaped plaques. (DO)" [http://en.wikipedia.org/wiki/Borderline_leprosy "DO"] synonym: "Borderline Leprosies" EXACT [] synonym: "borderline or dimorphous leprosy" EXACT [] synonym: "Dimorphous Leprosies" EXACT [] synonym: "Dimorphous Leprosy" EXACT [] synonym: "midborderline leprosy" EXACT [] xref: EFO:0001055 xref: ICD10CM:A30.3 xref: ICD9CM:030.3 xref: MESH:D015439 is_a: DOID:9001594 ! Paucibacillary Leprosy [Term] id: DOID:10230 name: aortic atherosclerosis def: "An atherosclerosis of the aorta. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK218744/ "DO"] synonym: "atherosclerosis of aorta" EXACT [] xref: ICD10CM:I70.0 xref: ICD9CM:440.0 xref: MONDO:0000980 is_a: DOID:1936 ! atherosclerosis is_a: DOID:520 ! aortic disease created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:10234 name: histoplasmosis pericarditis synonym: "histoplasmosis with pericarditis" EXACT [] xref: ICD9CM:115.93 is_a: DOID:1731 ! histoplasmosis is_a: DOID:1787 ! pericarditis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10235 name: Brown's tendon sheath syndrome def: "A mechanical strabismus that is characterized by impairment of eye movements. (DO)" [https://rarediseases.org/rare-diseases/brown-syndrome/ "DO"] synonym: "Brown's sheath syndrome" EXACT [] synonym: "Brown tendon sheath syndrome" EXACT [] synonym: "tendon sheath syndrome of Brown" EXACT [] xref: GARD:5963 xref: ICD10CM:H50.61 xref: ICD9CM:378.61 is_a: DOID:9306 ! mechanical strabismus [Term] id: DOID:10236 name: exhibitionism def: "A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. (DO)" [https://www.britannica.com/topic/exhibitionism "DO"] synonym: "exhibitionisms" EXACT [] xref: ICD10CM:F65.2 xref: ICD9CM:302.4 xref: MESH:D005084 xref: NCI:C94352 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:1024 name: leprosy def: "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. (DO)" [http://en.wikipedia.org/wiki/Leprosy "DO"] synonym: "Hansen's disease" EXACT [] synonym: "Hansen disease" EXACT [] synonym: "Leprosies" EXACT [] synonym: "leprosy, early-onset, susceptibility to" NARROW [] synonym: "LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "leprosy, protection against" RELATED [] synonym: "leprosy, susceptibility to, 1" RELATED [] synonym: "leprosy, susceptibility to, 2" RELATED [] synonym: "leprosy, susceptibility to, 3" RELATED [] synonym: "leprosy, susceptibility to, 4" RELATED [] synonym: "leprosy, susceptibility to, 5" RELATED [] synonym: "leprosy, susceptibility to, 6" RELATED [] synonym: "LPRS1" RELATED [] synonym: "LPRS2" RELATED [] synonym: "LPRS3" RELATED [] synonym: "LPRS4" RELATED [] synonym: "LPRS5" RELATED [] synonym: "LPRS6" RELATED [] synonym: "susceptibility to leprosy and multibacillary leprosy" RELATED [] synonym: "TLR1-RELATED CONDITION" EXACT [] xref: EFO:0001054 xref: GARD:6886 xref: ICD10CM:A30 xref: ICD9CM:030 xref: MESH:D007918 xref: MIM:246300 xref: MIM:607572 xref: MIM:609888 xref: MIM:610988 xref: MIM:613223 xref: MIM:613407 xref: MONDO:0005124 xref: NCI:C84824 xref: ORDO:548 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:2519 ! testicular disease is_a: DOID:5614 ! eye disease is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9001415 ! Mycobacterium Infections is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10241 name: thalassemia def: "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. (DO)" [https://www.genome.gov/Genetic-Disorders/Thalassemia "DO", PMID:11283697 "DO"] synonym: "hemoglobin J (Baltimore)" RELATED [] synonym: "hemoglobin Karatsu" RELATED [] synonym: "Hemoglobin Pylos" RELATED [] synonym: "hemoglobin Riyadh" RELATED [] synonym: "HEMOGLOBIN SUAN-DOK" RELATED [] synonym: "hemoglobin Tunis-Bizerte" RELATED [] synonym: "sickle-cell thalassemia with crisis" EXACT [] synonym: "sickle-cell thalassemia without crisis" EXACT [] synonym: "thalassemia Hb-S disease with crisis" EXACT [] synonym: "thalassemia Hb-S disease without crisis" EXACT [] synonym: "thalassemias" EXACT [] xref: EFO:1001996 xref: GARD:7756 xref: ICD10CM:D56 xref: ICD9CM:282.4 xref: MESH:D013789 xref: MONDO:0000984 xref: NCI:C35069 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11252 ! microcytic anemia is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:10242 name: ehrlichiosis def: "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ehrlichiosis "DO"] synonym: "Ehrlichioses" EXACT [] synonym: "human ehrlichiosis" EXACT [] xref: GARD:2092 xref: ICD10CM:A77.4 xref: ICD9CM:082.4 xref: MESH:D016873 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9008029 ! Anaplasmataceae Infections [Term] id: DOID:10247 name: pleurisy def: "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. (DO)" [http://en.wikipedia.org/wiki/Pleurisy "DO", http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2 "DO"] synonym: "pleurisies" EXACT [] synonym: "pleuritides" EXACT [] synonym: "pleuritis" EXACT [] xref: EFO:1001825 xref: ICD10CM:R09.1 xref: ICD9CM:511.8 xref: MESH:D010998 xref: NCI:C26860 is_a: DOID:1532 ! pleural disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:1025 name: tuberculoid leprosy def: "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. (DO)" [http://en.wikipedia.org/wiki/Tuberculoid_leprosy "DO"] synonym: "macular leprosies" EXACT [] synonym: "Macular Leprosy" EXACT [] synonym: "Neural Leprosies" EXACT [] synonym: "Neural Leprosy" EXACT [] synonym: "smooth leprosy" EXACT [] synonym: "tuberculoid leprosies" EXACT [] synonym: "type T leprosy" EXACT [] xref: EFO:0001056 xref: ICD10CM:A30.1 xref: ICD9CM:030.1 xref: MESH:D015441 is_a: DOID:9001594 ! Paucibacillary Leprosy [Term] id: DOID:10250 name: louping ill def: "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC4811648/ "DO", PMID:15606630 "DO", PMID:1753132 "DO"] xref: EFO:0007348 xref: ICD10CM:A84.89 xref: ICD9CM:063.1 xref: MESH:D008146 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:10254 name: strawberry gallbladder synonym: "cholesterolosis of gallbladder" EXACT [] xref: ICD10CM:K82.4 xref: ICD9CM:575.6 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:10261 name: otorrhea def: "An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. (DO)" [https://medlineplus.gov/ency/article/003042.htm "DO"] synonym: "discharging ear" EXACT [] xref: ICD10CM:H92.1 xref: ICD9CM:388.6 xref: NCI:C35199 is_a: DOID:2742 ! auditory system disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10264 name: mumps def: "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. (DO)" [https://medlineplus.gov/ency/article/001557.htm "DO", https://www.cdc.gov/mumps/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK534785/ "DO"] synonym: "epidemic parotitis" EXACT [] synonym: "mumps virus infectious disease" EXACT [] xref: EFO:0007383 xref: GARD:7116 xref: ICD10CM:B26 xref: ICD9CM:072 xref: MESH:D009107 xref: MONDO:0000989 xref: NCI:C29888 is_a: DOID:10301 ! parotitis is_a: DOID:9002710 ! Rubulavirus Infections [Term] id: DOID:10266 name: subendocardial infarction acute myocardial infarction synonym: "acute subendocardial myocardial infarction" EXACT [] xref: ICD9CM:410.7 xref: MONDO:0000990 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10272 name: left bundle branch hemiblock synonym: "left bundle branch block" EXACT [] xref: ICD10CM:I44.60 xref: ICD9CM:426.2 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9003912 ! Bundle-Branch Block created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10273 name: heart conduction disease def: "A cardiovascular system disease that involves the heart's electrical conduction system. (DO)" [http://en.wikipedia.org/wiki/Conduction_system_of_the_heart "DO"] synonym: "conduction system disorder" EXACT [] synonym: "heart rhythm disease" EXACT [] xref: EFO:0005137 xref: ICD9CM:426.6 is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10283 name: prostate cancer def: "A male reproductive organ cancer that is located_in the prostate. (DO)" [http://www.cancer.gov/dictionary?CdrID=445079 "DO", https://www.genome.gov/Genetic-Disorders/Prostate-Cancer "DO"] synonym: "cancer of prostate" EXACT [] synonym: "cancer of the prostate" EXACT [] synonym: "CYP3A4 PROMOTER POLYMORPHISM, Cyp3a4-v" RELATED [] synonym: "familial prostate cancer" NARROW [] synonym: "GEN1-related condition" BROAD [] synonym: "GEN1-RELATED PROSTATE CANCER" NARROW [] synonym: "malignant tumor of prostate" EXACT [] synonym: "malignant tumor of the prostate" EXACT [] synonym: "NGP - new growth of prostate" RELATED [] synonym: "prostate cancer, progression and metastasis of" NARROW [] synonym: "prostate cancers" EXACT [] synonym: "prostate cancer, susceptibility to" RELATED [] synonym: "prostate cancer, susceptibility to, in African Americans" RELATED [] synonym: "prostatic cancer" EXACT [] synonym: "tumor of the prostate" EXACT [] xref: EFO:0000196 xref: ICD10CM:C61 xref: ICD9CM:185 xref: MIM:176807 xref: MONDO:0008315 xref: NCI:C3343 xref: NCI:C7378 xref: ORDO:1331 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9002304 ! Prostatic Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:10286 name: prostate carcinoma def: "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "carcinoma of prostate" EXACT [] synonym: "metastatic prostate carcinoma" NARROW [] xref: EFO:0001663 xref: NCI:C128122 xref: NCI:C4863 is_a: DOID:10283 ! prostate cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:10287 name: prostate squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the prostate. (DO)" [PMID:23877521 "DO"] synonym: "squamous cell carcinoma of prostate" RELATED [] synonym: "squamous cell carcinoma of the prostate" EXACT [NCI2004_11_17:C5536] xref: NCI:C5536 xref: RDO:9001822 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:10289 name: prostate malignant phyllodes tumor def: "A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. (DO)" [https://www.hindawi.com/journals/jo/2009/241270/ "DO"] synonym: "malignant phyllodes neoplasm of the prostate" EXACT [] synonym: "malignant phyllodes tumor of prostate" EXACT [] synonym: "phyllodes tumor of the prostate" EXACT [] xref: MESH:C549759 xref: NCI:C5531 is_a: DOID:10283 ! prostate cancer is_a: DOID:9004240 ! Phyllodes Tumor [Term] id: DOID:1029 name: familial periodic paralysis def: "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html "DO", https://www.ninds.nih.gov/health-information/disorders/familial-periodic-paralyses "DO"] synonym: "familial periodic paralyses" EXACT [] synonym: "normokalemic periodic paralyses" EXACT [] synonym: "normokalemic periodic paralysis" EXACT [] xref: GARD:6422 xref: MESH:D010245 xref: NCI:C84709 is_a: DOID:0080000 ! muscular disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:10290 name: prostate lymphoma def: "A prostate cancer that affects lymphocytes and arises from the prostate gland. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/ "DO"] synonym: "lymphoma of prostate" EXACT [] synonym: "lymphoma of the prostate" EXACT [] xref: NCI:C5533 is_a: DOID:0060058 ! lymphoma is_a: DOID:10283 ! prostate cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:10293 name: monocular esotropia def: "An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. (DO)" [https://en.wikipedia.org/wiki/Esotropia "DO"] xref: ICD10CM:H50.01 xref: ICD9CM:378.01 is_a: DOID:9840 ! esotropia created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10300 name: Raynaud disease def: "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. (DO)" [https://medlineplus.gov/raynaudsdisease.html "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/raynauds-phenomenon "DO"] synonym: "hereditary cold fingers" EXACT [] synonym: "Raynaud's disease" EXACT [] synonym: "Raynaud's syndrome" EXACT [] synonym: "Raynaud phenomenon" EXACT [] synonym: "Raynauds disease" EXACT [] xref: EFO:1001145 xref: ICD10CM:I73.0 xref: MESH:D011928 xref: MIM:179600 xref: MONDO:0008364 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:10301 name: parotitis def: "A parotid disease characterized by the inflammation of one or both parotid glands. (DO)" [http://en.wikipedia.org/wiki/Parotitis "DO"] synonym: "parotiditides" EXACT [] synonym: "parotiditis" EXACT [] synonym: "parotitides" EXACT [] xref: EFO:0007423 xref: ICD10CM:K11.2 xref: MESH:D010309 xref: NCI:C114281 is_a: DOID:10302 ! parotid disease is_a: DOID:10303 ! sialadenitis [Term] id: DOID:10302 name: parotid disease def: "A salivary gland disease that is located in the parotid gland. (DO)" [https://www.mayoclinic.org/diseases-conditions/parotid-tumor/cdc-20388269 "DO"] synonym: "parotid diseases" EXACT [] xref: EFO:0007422 xref: MESH:D010305 xref: MONDO:0005899 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:10303 name: sialadenitis def: "A salivary gland disease that is characterized as an infection of the salivary glands. (DO)" [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis "DO"] synonym: "chronic sialadenitides" EXACT [] synonym: "Chronic Sialadenitis" EXACT [] synonym: "irradiation-induced sialadenitides" EXACT [] synonym: "Irradiation Induced Sialadenitis" EXACT [] synonym: "Salivary Gland Adenitides" EXACT [] synonym: "Salivary Gland Adenitis" EXACT [] synonym: "Salivary Gland Inflammation" EXACT [] synonym: "Salivary Gland Inflammations" EXACT [] synonym: "Sialadenitides" EXACT [] synonym: "Sialitides" EXACT [] synonym: "Sialitis" EXACT [] synonym: "sialoadenitides" EXACT [] synonym: "sialoadenitis" EXACT [] xref: EFO:1001179 xref: GARD:7638 xref: ICD10CM:K11.20 xref: ICD9CM:527.2 xref: MESH:D012793 xref: NCI:C115165 xref: NCI:C26882 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:10310 name: viral meningitis def: "A meningitis that has_material_basis_in a viral infection. (DO)" [https://en.wikipedia.org/wiki/Viral_meningitis "DO"] synonym: "viral meningitides" EXACT [] xref: EFO:1001236 xref: ICD10CM:A87 xref: ICD9CM:047.9 xref: MESH:D008587 xref: NCI:C118298 is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9471 ! meningitis [Term] id: DOID:10314 name: endocarditis def: "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. (DO)" [http://en.wikipedia.org/wiki/Endocarditis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ "DO"] synonym: "endocarditides" EXACT [] xref: EFO:0000465 xref: ICD10CM:I33.9 xref: ICD9CM:421.9 xref: MESH:D004696 xref: NCI:C34582 xref: NCI:C35432 is_a: DOID:0050825 ! endocardium disease is_a: DOID:114 ! heart disease [Term] id: DOID:10316 name: pneumoconiosis def: "An interstitial lung disease that is caused by the inhalation of dust. (DO)" [http://en.wikipedia.org/wiki/Pneumoconiosis "DO"] synonym: "pneumoconioses" EXACT [] xref: ICD10CM:J64 xref: ICD9CM:505 xref: MESH:D011009 xref: MONDO:0015926 xref: NCI:C26861 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9000310 ! Lung Injury is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:10319 name: mixed mineral dust pneumoconiosis def: "A pneumoconiosis caused by the inhalation of mixed mineral dust particles. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/ "DO"] xref: MONDO:0001000 xref: NCI:C27559 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10320 name: asbestosis def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers. (DO)" [http://en.wikipedia.org/wiki/Asbestosis "DO"] synonym: "Asbestoses" EXACT [] synonym: "Idiopathic Interstitial Pneumonitis - from Asbestos Exposure" EXACT [] synonym: "Pulmonary Fibrosis - from Asbestos Exposure" EXACT [] xref: EFO:0007153 xref: GARD:5852 xref: ICD10CM:J61 xref: ICD9CM:501 xref: MESH:D001195 xref: NCI:C84573 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10321 name: baritosis def: "A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. (DO)" [https://rarediseases.info.nih.gov/diseases/8371/baritosis "DO"] synonym: "deposition of barium in the lungs" EXACT [] synonym: "inhalation of barytes" EXACT [] xref: GARD:8371 xref: MESH:C537080 xref: NCI:C34410 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10322 name: berylliosis def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. (DO)" [http://en.wikipedia.org/wiki/Berylliosis "DO"] synonym: "beryllioses" EXACT [] synonym: "beryllium disease" EXACT [] synonym: "beryllium poisoning" EXACT [] xref: EFO:0007168 xref: ICD10CM:J63.2 xref: MESH:D001607 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10323 name: byssinosis def: "A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/ "DO"] synonym: "Brown Lung" EXACT [] synonym: "Brown Lung Disease" EXACT [] synonym: "Brown Lung Diseases" EXACT [] synonym: "Brown Lungs" EXACT [] synonym: "Byssinoses" EXACT [] synonym: "cotton mill fever" EXACT [] synonym: "flax-dressers' disease" EXACT [] synonym: "stripper's asthma" EXACT [] xref: EFO:1000851 xref: GARD:5976 xref: ICD10CM:J66.0 xref: MESH:D002095 xref: NCI:C84605 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10324 name: anthracosilicosis def: "A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/ "DO"] synonym: "anthracosilicoses" EXACT [] xref: EFO:1000813 xref: ICD10CM:J60 xref: MESH:D000874 xref: NCI:C34389 is_a: DOID:10325 ! silicosis is_a: DOID:10327 ! anthracosis [Term] id: DOID:10325 name: silicosis def: "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. (DO)" [http://en.wikipedia.org/wiki/Silicosis "DO"] synonym: "pneumoconiosis due to silicates" EXACT [] synonym: "silica pneumoconiosis" EXACT [] synonym: "silicoses" EXACT [] synonym: "silicotic fibrosis of lung" EXACT [] xref: EFO:0007485 xref: GARD:7647 xref: ICD10CM:J62.8 xref: ICD9CM:502 xref: MESH:D012829 xref: MONDO:0005960 xref: NCI:C3369 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10326 name: Caplan's syndrome def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis. (DO)" [http://en.wikipedia.org/wiki/Caplan%27s_syndrome "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm "DO"] synonym: "Caplan's disease" EXACT [] synonym: "Caplans syndrome" EXACT [] synonym: "Caplan syndrome" EXACT [] synonym: "Caplan syndromes" EXACT [] synonym: "rheumatoid pneumoconiosis" EXACT [] xref: EFO:0007192 xref: MESH:D002205 is_a: DOID:10316 ! pneumoconiosis is_a: DOID:225 ! syndrome is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:10327 name: anthracosis def: "A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/ "DO"] synonym: "anthracoses" EXACT [] synonym: "Black Lung" EXACT [] synonym: "Black Lung Disease" EXACT [] synonym: "black lung diseases" EXACT [] synonym: "Black Lungs" EXACT [] synonym: "Coal Miner's Lung" EXACT [] synonym: "Coal Miner's Lungs" EXACT [] synonym: "coal miner's pneumoconiosis" EXACT [] synonym: "Coal Miner Lung" EXACT [] synonym: "Coal Miners Lung" EXACT [] synonym: "Coal Worker's Pneumoconioses" EXACT [] synonym: "Coalworker's Pneumoconioses" EXACT [] synonym: "Coal Worker's Pneumoconiosis" EXACT [] synonym: "coalworker's pneumoconiosis" EXACT [] synonym: "Coal Worker Pneumoconiosis" EXACT [] synonym: "Coalworker Pneumoconiosis" EXACT [] synonym: "coal workers' lung" EXACT [] synonym: "Coal Workers Pneumoconiosis" EXACT [] synonym: "coalworkers pneumoconiosis" EXACT [] synonym: "melanoedema" EXACT [] xref: EFO:1000814 xref: ICD9CM:500 xref: MESH:D055008 xref: NCI:C34390 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10328 name: siderosis def: "A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes. (DO)" [https://en.wikipedia.org/wiki/Siderosis "DO"] synonym: "pulmonary siderosis" EXACT [] synonym: "sideroses" EXACT [] xref: GARD:7645 xref: ICD10CM:J63.4 xref: MESH:D012806 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10329 name: pulmonary talcosis def: "A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. (DO)" [https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26 "DO", https://radiopaedia.org/articles/talcosis-1 "DO", PMID:34390717 "DO", PMID:34401315 "DO"] synonym: "pneumoconiosis due to talc" EXACT [] synonym: "talcosis" EXACT [] synonym: "talc pneumoconiosis" EXACT [] xref: ICD10CM:J62.0 xref: NCI:C27026 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10330 name: slate pneumoconiosis def: "A pneumoconiosis that is caused by exposure to slate dust. (DO)" [https://academic.oup.com/occmed/article/67/1/20/2420658 "DO", PMID:7426466 "DO"] synonym: "schistosis" EXACT [] xref: MONDO:0001004 xref: NCI:C35397 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10331 name: kaolin pneumoconiosis def: "A pneumoconiosis that is caused by inhalation of kaolin dust. (DO)" [https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext "DO"] synonym: "kaolinosis" EXACT [] xref: GARD:8355 xref: NCI:C35315 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10337 name: glaucomatous atrophy of optic disc def: "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma. (DO)" [https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/ "DO"] synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT [] xref: ICD10CM:H47.23 xref: ICD9CM:377.14 is_a: DOID:1279 ! ocular motility disease is_a: DOID:1686 ! glaucoma is_a: DOID:5723 ! optic atrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10341 name: chronic meningitis xref: ICD10CM:G03.1 xref: ICD9CM:322.2 is_a: DOID:9471 ! meningitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10348 name: blepharophimosis def: "An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (DO)" [https://en.wikipedia.org/wiki/Blepharophimosis "DO"] synonym: "blepharophimoses" EXACT [] xref: GARD:5932 xref: ICD10CM:H02.52 xref: ICD9CM:374.46 xref: MESH:D016569 is_a: DOID:0080015 ! physical disorder is_a: DOID:530 ! eyelid disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:10349 name: solitary cyst of breast def: "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. (DO)" [PMID:14223874 "DO"] synonym: "solitary cyst of the breast" EXACT [] xref: ICD10CM:N60.0 xref: ICD10CM:N60.09 xref: ICD9CM:610.0 xref: NCI:C3378 is_a: DOID:10350 ! breast cyst [Term] id: DOID:1035 name: aggressive NK-cell leukemia def: "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. (DO)" [https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/ "DO"] synonym: "aggressive NK-cell leukaemia" EXACT [] synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [] synonym: "natural killer cell leukaemia" EXACT [] synonym: "natural killer cell leukemia" EXACT [] xref: ICD10CM:C94.8 xref: ICDO:9948/3 xref: MONDO:0019470 xref: NCI:C8647 is_a: DOID:0050687 ! cell type cancer is_a: DOID:1037 ! lymphoid leukemia is_a: DOID:9500 ! leukocyte disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10350 name: breast cyst def: "A breast benign neoplasm that is characterized by a fluid-filled sac. (DO)" [https://en.wikipedia.org/wiki/Breast_cyst "DO"] synonym: "breast cysts" EXACT [] synonym: "cyst of the breast" EXACT [] xref: EFO:1000848 xref: MESH:D047688 xref: NCI:C5315 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:9007583 ! Cysts [Term] id: DOID:10352 name: breast fibroadenosis def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://en.wikipedia.org/wiki/Fibrosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1 "DO"] synonym: "fibroadenosis of breast" EXACT [] xref: ICD10CM:N60.2 xref: ICD9CM:610.2 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:10353 name: fibrosclerosis of breast def: "A non-proliferative fibrocystic change of the breast that contains scar tissue. (DO)" [https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast "DO"] synonym: "breast fibrosis" EXACT [] synonym: "fibrosis of the breast" EXACT [] xref: EFO:1000145 xref: ICD10CM:N60.3 xref: ICD9CM:610.3 xref: MONDO:0006118 xref: NCI:C3660 is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast [Term] id: DOID:10354 name: breast fibrocystic disease def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. (DO)" [PMID:3511705 "DO"] synonym: "benign breast disease" EXACT [] synonym: "Breast Cystic Disease" EXACT [] synonym: "Breast Cystic Diseases" EXACT [] synonym: "Breast Dysplasia" EXACT [] synonym: "Breast Fibrocystic Change" EXACT [] synonym: "Breast Fibrocystic Changes" EXACT [] synonym: "Chronic Cystic Mastitis" EXACT [] synonym: "Cystic Disease of Breast" EXACT [] synonym: "Diffuse cystic mastopathy" EXACT [] synonym: "Fibrocystic Changes of Breast" EXACT [] synonym: "Fibrocystic Disease of Breast" EXACT [] synonym: "fibrocystic mastopathy" EXACT [] synonym: "mammary dysplasia" EXACT [] xref: EFO:0003014 xref: ICD10CM:N60.1 xref: ICD9CM:610.1 xref: MESH:D005348 xref: NCI:C3039 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1036 name: chronic leukemia def: "A leukemia that develops slowly. (DO)" [http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html "DO"] synonym: "adult chronic leukemia" RELATED [] xref: NCI:C3483 is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:10361 name: eosinophilic meningitis def: "A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. (DO)" [PMID:31972289 "DO"] xref: ICD9CM:322.1 xref: NCI:C128374 is_a: DOID:10341 ! chronic meningitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10366 name: epididymis cancer def: "A male reproductive organ cancer that is located in the epididymis. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/ "DO"] synonym: "malignant epididymal tumor" EXACT [] synonym: "malignant neoplasm of epididymis" EXACT [] synonym: "malignant tumor of epididymis" EXACT [] xref: ICD10CM:C63.0 xref: ICD9CM:187.5 xref: MONDO:0001016 xref: NCI:C3558 is_a: DOID:0080373 ! epididymis disease is_a: DOID:3856 ! male reproductive organ cancer created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10368 name: epididymis adenocarcinoma def: "An epididymis cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the epididymis" EXACT [] xref: NCI:C39957 is_a: DOID:10366 ! epididymis cancer is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:1037 name: lymphoid leukemia alt_id: DOID:10747 def: "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. (DO)" [http://www.cancer.gov/dictionary?CdrID=616067 "DO"] synonym: "lymphoblastic leukaemia" EXACT [] synonym: "lymphocytic leukaemia" EXACT [] synonym: "lymphocytic leukemia" EXACT [] synonym: "lymphocytic leukemias" EXACT [] synonym: "lymphoid leukemias" EXACT [] xref: EFO:0004289 xref: ICD10CM:C91 xref: ICD9CM:204 xref: ICDO:9820/3 xref: MESH:D007945 xref: MONDO:0005402 xref: NCI:C7539 is_a: DOID:0060058 ! lymphoma is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10371 name: yaws def: "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions. (DO)" [http://en.wikipedia.org/wiki/Yaws "DO", http://www.who.int/mediacentre/factsheets/fs316/en/ "DO"] synonym: "bouba" EXACT [] synonym: "frambesia" EXACT [] synonym: "frambesias" EXACT [] synonym: "frambesia tropica" EXACT [] synonym: "frambesia tropicas" EXACT [] synonym: "frambosie" EXACT [] synonym: "polypapilloma tropicum" EXACT [] synonym: "thymosis" EXACT [] xref: EFO:0007548 xref: GARD:7913 xref: ICD10CM:A66 xref: ICD9CM:102 xref: MESH:D015001 xref: MONDO:0006019 xref: NCI:C41353 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:0080001 ! bone disease is_a: DOID:9000746 ! Treponemal Infections is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:10375 name: strabismic amblyopia def: "An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye. (DO)" [https://aapos.org/glossary/amblyopia "DO", PMID:25051925 "DO"] synonym: "suppression amblyopia" EXACT [] synonym: "suppression amblyopias" EXACT [] xref: ICD10CM:H53.03 xref: ICD9CM:368.01 is_a: DOID:10376 ! amblyopia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:10376 name: amblyopia def: "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. (DO)" [https://en.wikipedia.org/wiki/Amblyopia "DO", https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye "DO"] synonym: "amblyopias" EXACT [] synonym: "Anisometropic Amblyopia" EXACT [] synonym: "anisometropic amblyopias" EXACT [] synonym: "Developmental Amblyopia" EXACT [] synonym: "Developmental Amblyopias" EXACT [] synonym: "lazy eye" EXACT [] synonym: "lazy eyes" EXACT [] xref: ICD10CM:H53.00 xref: ICD9CM:368.00 xref: MESH:D000550 xref: MONDO:0001020 xref: NCI:C118764 is_a: DOID:5614 ! eye disease is_a: DOID:9000343 ! Vision Disorders is_a: DOID:936 ! brain disease [Term] id: DOID:10377 name: refractive amblyopia def: "An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s). (DO)" [https://aapos.org/glossary/amblyopia "DO"] synonym: "ametropic amblyopia" EXACT [] xref: ICD10CM:H53.02 xref: ICD9CM:368.03 is_a: DOID:10376 ! amblyopia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:10378 name: deprivation amblyopia def: "An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar. (DO)" [https://aapos.org/glossary/amblyopia "DO"] synonym: "disuse amblyopia" EXACT [] synonym: "pattern-deprivation amblyopia" EXACT [] synonym: "stimulus deprivation-induced amblyopia" EXACT [] synonym: "stimulus deprivation-induced amblyopias" EXACT [] xref: ICD10CM:H53.01 xref: ICD9CM:368.02 is_a: DOID:10376 ! amblyopia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10383 name: amyotrophic neuralgia def: "A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. (DO)" [https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/ "DO"] synonym: "amyotrophic neuralgias" EXACT [] synonym: "hereditary neuralgic amyotrophies" EXACT [] synonym: "hereditary neuralgic amyotrophy" EXACT [] synonym: "hereditary neuralgic amyotrophy (HNA)" EXACT [] synonym: "neuralgic amyotrophies" EXACT [] synonym: "neuralgic amyotrophy" EXACT [] xref: ICD9CM:353.5 xref: MONDO:0008076 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3690 ! brachial plexus neuropathy is_a: DOID:9005968 ! Neuralgia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1039 name: prolymphocytic leukemia def: "A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. (DO)" [https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias "DO"] synonym: "PLL" EXACT [] synonym: "Prolymphocytic leukaemia" EXACT [] synonym: "prolymphocytic leukemias" EXACT [] xref: ICDO:9832/3 xref: MESH:D015463 xref: NCI:C3181 is_a: DOID:1037 ! lymphoid leukemia is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:10393 name: secondary hypertrophic osteoarthropathy def: "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" [MESH:D010005] synonym: "Clubbed Finger" EXACT [] synonym: "Clubbed Fingers" EXACT [] synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [SNOMEDCT_2005_07_31:203357004] synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [] synonym: "Marie Bamberger Disease" EXACT [] synonym: "Secondary Hypertrophic Osteoarthropathies" EXACT [] xref: EFO:1001174 xref: ICD9CM:731.2 xref: MESH:D010005 xref: RDO:0006249 is_a: DOID:3342 ! bone inflammation disease is_a: DOID:381 ! arthropathy [Term] id: DOID:10398 name: pneumonic plague def: "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. (DO)" [https://en.wikipedia.org/wiki/Pneumonic_plague "DO"] synonym: "pneumonic plagues" EXACT [] synonym: "primary pneumonic plague" EXACT [] synonym: "secondary pneumonic plague" EXACT [] xref: ICD10CM:A20.2 xref: ICD9CM:020.3 xref: ICD9CM:020.4 xref: ICD9CM:020.5 is_a: DOID:3482 ! plague is_a: DOID:850 ! lung disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10399 name: seminal vesicle chronic gonorrhea synonym: "Gonococcal seminal vesiculitis, chronic" EXACT [ICD9CM_2006:098.34] xref: ICD9CM:098.34 xref: RDO:9004910 is_a: DOID:10400 ! gonococcal seminal vesiculitis created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:104 name: bacterial infectious disease def: "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. (DO)" [http://en.wikipedia.org/wiki/Pathogenic_bacteria "DO"] synonym: "bacterial infection" EXACT [] synonym: "bacterial infections" EXACT [] xref: EFO:0000771 xref: ICD10CM:A49.9 xref: MESH:D001424 xref: MONDO:0005113 xref: NCI:C2890 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:1040 name: chronic lymphocytic leukemia def: "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. (DO)" [http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia "DO", http://www.cancer.gov/dictionary?cdrid=346545 "DO"] synonym: "B-cell chronic lymphocytic leukaemia" EXACT [] synonym: "B-cell chronic lymphoid leukemia" RELATED [] synonym: "chronic lymphatic leukaemia" EXACT [] synonym: "chronic lymphatic leukemia" EXACT [] synonym: "chronic lymphocytic leukaemia" EXACT [] synonym: "chronic lymphoid leukemia" EXACT [] synonym: "CLL" EXACT [] synonym: "lymphoplasmacytic leukaemia" EXACT [] synonym: "lymphoplasmacytic leukemia" EXACT [] xref: EFO:0000095 xref: EFO:0000169 xref: GARD:6104 xref: ICD10CM:C91.10 xref: ICD9CM:204.1 xref: NCI:C3163 xref: ORDO:67038 is_a: DOID:0060058 ! lymphoma is_a: DOID:1037 ! lymphoid leukemia created_by: rgd creation_date: 2016-07-12T00:00:00Z [Term] id: DOID:10400 name: gonococcal seminal vesiculitis synonym: "gonorrhea of seminal vesicle" EXACT [] is_a: DOID:7551 ! gonorrhea is_a: DOID:9365 ! vesiculitis created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:10423 name: acute pericementitis synonym: "acute periodontitis" EXACT [] xref: ICD9CM:523.33 xref: NCI:C34354 is_a: DOID:824 ! periodontitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10426 name: Klippel-Feil syndrome alt_id: MESH:C536887 alt_id: MESH:C536888 def: "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (DO)" [http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome "DO", http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm "DO", http://www.wheelessonline.com/ortho/klippel_feil_syndrome "DO"] synonym: "autosomal dominant Klippel-Feil syndrome" EXACT [] synonym: "autosomal recessive Klippel-Feil syndrome" EXACT [] synonym: "cervical fusion syndrome" EXACT [] synonym: "cervical vertebral fusion, autosomal dominant" EXACT [] synonym: "Cervical vertebral fusion, autosomal recessive" EXACT [] synonym: "congenital dystrophia brevicollis" EXACT [] synonym: "congenital synostosis of cervical vertebrae" EXACT [] synonym: "Dystrophia Brevicollis Congenita" EXACT [] synonym: "KFS" EXACT [] synonym: "Kfs, Autosomal Recessive" EXACT [] synonym: "Klippel-Feil and Turner syndrome" EXACT [] synonym: "Klippel-Feil deformity, deafness and facial asymmetry" EXACT [] synonym: "Klippel-Feil sequence" EXACT [] synonym: "vertebral cervical fusion syndrome" EXACT [] xref: GARD:10280 xref: ICD10CM:Q76.1 xref: ICD9CM:756.16 xref: MESH:D007714 xref: MIM:PS118100 xref: NCI:C98967 xref: ORDO:2345 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:10428 name: stable condition keratoconus xref: ICD10CM:H18.61 xref: ICD9CM:371.61 xref: RDO:9004354 is_a: DOID:10126 ! keratoconus created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10435 name: purulent acute otitis media def: "A suppurative otitis media with sudden onset and a short course. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false "DO"] xref: ICD9CM:382.02 is_a: DOID:11506 ! suppurative otitis media is_a: DOID:9000955 ! Acute Otitis Media created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10439 name: Mooren's ulcer def: "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. (DO)" [https://eyewiki.aao.org/Mooren%27s_Ulcer "DO"] synonym: "Mooren ulcer" EXACT [] xref: ICD10CM:H16.05 xref: ICD9CM:370.07 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10440 name: mycotic corneal ulcer def: "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. (DO)" [https://eyewiki.aao.org/Fungal_Keratitis "DO"] xref: ICD10CM:H16.06 xref: ICD9CM:370.05 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10441 name: marginal corneal ulcer def: "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. (DO)" [https://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate "DO"] xref: ICD10CM:H16.04 xref: ICD9CM:370.01 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10442 name: hypopyon ulcer xref: ICD10CM:H16.03 xref: ICD9CM:370.04 xref: RDO:9003091 is_a: DOID:10443 ! hypopyon created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10443 name: hypopyon xref: ICD10CM:H20.05 xref: ICD9CM:364.05 xref: MONDO:0001036 xref: NCI:C50593 is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10444 name: ring corneal ulcer def: "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. (DO)" [PMID:16693254 "DO"] xref: ICD10CM:H16.02 xref: ICD9CM:370.02 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10445 name: perforated corneal ulcer def: "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. (DO)" [https://www.aao.org/eyenet/article/corneal-perforations "DO"] xref: ICD10CM:H16.07 xref: ICD9CM:370.06 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10456 name: tonsillitis def: "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. (DO)" [http://en.wikipedia.org/wiki/Tonsillitis "DO", https://www.merriam-webster.com/dictionary/tonsillitis#medicalDictionary "DO"] synonym: "chronic tonsillitis" EXACT [] synonym: "throat infection - tonsillitis" EXACT [] synonym: "Tonsillitides" EXACT [] xref: ICD10CM:J35.01 xref: ICD9CM:474.00 xref: MESH:D014069 xref: NCI:C116006 is_a: DOID:2275 ! pharyngitis is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10457 name: Legionnaires' disease def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. (DO)" [http://en.wikipedia.org/wiki/Legionellosis "DO"] synonym: "infection by Legionella pneumophilia" EXACT [] synonym: "legionella" EXACT [] synonym: "legionella pneumonia" EXACT [] synonym: "Legionella pneumophila Infection" EXACT [] synonym: "Legionella pneumophila Infections" EXACT [] synonym: "legionnaire's disease" EXACT [] synonym: "legionnaire disease" EXACT [] synonym: "Legionnaire disease, susceptibility to" RELATED [] xref: EFO:0007343 xref: ICD10CM:A48.1 xref: ICD9CM:482.84 xref: MESH:D007877 xref: MIM:608556 xref: MONDO:0005824 xref: NCI:C128339 is_a: DOID:10458 ! legionellosis is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:10458 name: legionellosis def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. (DO)" [http://en.wikipedia.org/wiki/Legionellosis "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm "DO"] synonym: "legionella infection" EXACT [] synonym: "legionelloses" EXACT [] xref: EFO:0007342 xref: MESH:D007876 xref: NCI:C128334 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:10459 name: common cold def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. (DO)" [https://medlineplus.gov/commoncold.html "DO", https://www.merriam-webster.com/dictionary/common%20cold#medicalDictionary "DO"] synonym: "acute coryza" EXACT [] synonym: "acute nasopharyngitis" EXACT [] synonym: "acute rhinitis" EXACT [] synonym: "Acute viral rhinopharyngitis" EXACT [] synonym: "Catarrh" EXACT [] synonym: "Catarrhs" EXACT [] synonym: "Common Colds" EXACT [] synonym: "rhino-sinusitis" RELATED [] xref: EFO:0007214 xref: ICD9CM:460 xref: MESH:D003139 xref: MONDO:0005709 xref: NCI:C34500 xref: NCI:C78599 is_a: DOID:9006549 ! Enterovirus Infections is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10460 name: nasopharyngitis def: "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. (DO)" [http://medical-dictionary.thefreedictionary.com/nasopharyngitis "DO", http://www.merriam-webster.com/medical/nasopharyngitis "DO"] synonym: "chronic nasopharyngitis" EXACT [] synonym: "nasopharyngitides" EXACT [] xref: ICD10CM:J00 xref: ICD10CM:J31.1 xref: ICD9CM:472.2 xref: MESH:D009304 xref: NCI:C34837 is_a: DOID:2275 ! pharyngitis is_a: DOID:9561 ! nasopharyngeal disease [Term] id: DOID:10461 name: dentin caries synonym: "compound dental caries" EXACT [] synonym: "dental caries extending into dentine" EXACT [] xref: ICD10CM:K02 xref: ICD9CM:521.02 is_a: DOID:216 ! dental caries created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10471 name: patellar tendinitis synonym: "patellar tendonitis" EXACT [] xref: ICD10CM:M76.5 xref: ICD10CM:M76.50 xref: ICD9CM:726.64 xref: MONDO:0001042 is_a: DOID:971 ! tendinitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10480 name: diaphragmatic eventration def: "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." [MESH:D003965] synonym: "Diaphragm Eventration" EXACT [] synonym: "Eventration of Diaphragm" EXACT [] xref: EFO:1000898 xref: ICD10CM:Q79.1 xref: MESH:D003965 xref: NCI:C98912 is_a: DOID:10481 ! diaphragm disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10481 name: diaphragm disease def: "A muscular disease that is located_in the diaphragm. (DO)" [http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm "DO"] xref: EFO:0007233 xref: ICD10CM:J98.6 xref: ICD9CM:519.4 is_a: DOID:0080000 ! muscular disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10485 name: esophageal atresia def: "Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA." [MESH:D004933] synonym: "congenital atresia of esophagus" EXACT [] synonym: "congenital imperforate esophagus" EXACT [] synonym: "Esophageal Atresias" EXACT [] synonym: "imperforate esophagus" EXACT [] synonym: "oesophageal atresia" EXACT [] xref: GARD:6381 xref: ICD10CM:Q39.0 xref: MESH:D004933 xref: NCI:C87072 is_a: DOID:6050 ! esophageal disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10486 name: intestinal atresia def: "Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)" [MESH:D007409] synonym: "apple peel intestinal atresia" EXACT [] synonym: "Apple Peel Small Bowel Syndrome" EXACT [] synonym: "Apple Peel Syndrome" EXACT [] synonym: "Apple Peel Syndromes" EXACT [] synonym: "Congenital Intestinal Atresia" EXACT [] synonym: "Congenital Intestinal Atresias" EXACT [] synonym: "Familial Apple Peel Jejunal Atresia" EXACT [] synonym: "jejunal atresia" EXACT [] xref: ICD10CM:Q41.1 xref: MESH:D007409 xref: MIM:243600 xref: MONDO:0001045 xref: NCI:C84790 is_a: DOID:5295 ! intestinal disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10487 name: Hirschsprung's disease alt_id: MIM:142623 alt_id: MIM:600155 alt_id: MIM:600156 alt_id: MIM:606874 alt_id: MIM:606875 alt_id: MIM:608462 alt_id: MIM:611644 alt_id: MIM:613711 alt_id: MIM:613712 def: "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)" [http://en.wikipedia.org/wiki/Hirschsprung%27s_disease "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm "DO", http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease "DO"] synonym: "aganglionic megacolon" EXACT [] synonym: "colonic aganglionosis" EXACT [] synonym: "congenital intestinal aganglionosis" EXACT [] synonym: "congenital megacolon" EXACT [] synonym: "CSMD3-ASSOCIATED HIRSCHSPRUNG DISEASE" NARROW [] synonym: "EDN3-related condition" BROAD [] synonym: "GDNF-related condition" BROAD [] synonym: "Hirschsprung disease" EXACT [] synonym: "Hirschsprung disease, dominant" NARROW [] synonym: "Hirschsprung disease, protection against" RELATED [] synonym: "Hirschsprung disease, recessive" NARROW [] synonym: "Hirschsprung Disease, Susceptibility to, 1" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 2" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 3" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 4" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 5" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 6" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 7" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 8" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 9" RELATED [] synonym: "Hirschsprungs disease" EXACT [] synonym: "HSCR" EXACT [] synonym: "HSCR1" EXACT [] synonym: "HSCR2" EXACT [] synonym: "HSCR3" EXACT [] synonym: "HSCR4" EXACT [] synonym: "HSCR5" EXACT [] synonym: "HSCR6" EXACT [] synonym: "HSCR7" EXACT [] synonym: "HSCR8" EXACT [] synonym: "HSCR9" EXACT [] synonym: "macrocolon" EXACT [] synonym: "MGC" EXACT [] synonym: "pelvirectal achalasia" EXACT [] synonym: "rectosigmoid aganglionosis" EXACT [] synonym: "rectosigmoid colon aganglionosis" EXACT [] synonym: "total colonic aganglionosis" EXACT [] xref: GARD:6660 xref: ICD10CM:Q43.1 xref: MESH:D006627 xref: MIM:PS142623 xref: MONDO:0018309 xref: NCI:C34700 xref: ORDO:388 is_a: DOID:11372 ! megacolon is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10488 name: imperforate anus alt_id: MIM:207500 alt_id: MIM:301800 def: "A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME." [MESH:D001006] synonym: "anal atresia" EXACT [] synonym: "anal atresias" EXACT [] synonym: "congenital atresia of anus" EXACT [] synonym: "congenital or infantile occlusion of anus" EXACT [] xref: GARD:6769 xref: ICD10CM:Q42.3 xref: MESH:D001006 xref: NCI:C84784 is_a: DOID:0080015 ! physical disorder is_a: DOID:3128 ! anus disease is_a: DOID:9001471 ! Anorectal Malformations [Term] id: DOID:10493 name: adrenal cortical hypofunction alt_id: DOID:9008329 synonym: "Adrenal Cortical Insufficiency" EXACT [NCI2004_11_17:C27150] synonym: "Adrenocortical Insufficiency" EXACT [] synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:267483004] xref: EFO:0009491 xref: ICD9CM:255.4 xref: MIM:184757 xref: NCI:C26691 xref: RDO:9000796 xref: RDO:9004277 is_a: DOID:3952 ! adrenal cortex disease is_a: DOID:9008622 ! Adrenal Insufficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:10499 name: orbital granuloma xref: ICD10CM:H05.11 xref: ICD9CM:376.11 xref: MONDO:0001048 xref: NCI:C3653 is_a: DOID:1397 ! chronic orbital inflammation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10507 name: Dressler's syndrome def: "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. (DO)" [http://en.wikipedia.org/wiki/Dressler%27s_syndrome "DO", http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307 "DO"] synonym: "Donath-Landsteiner hemolytic anemia" EXACT [] synonym: "Donath-Landsteiner syndrome" EXACT [] synonym: "Dressler syndrome" EXACT [] synonym: "Harley syndrome" EXACT [] synonym: "immune hemolytic anemia, paroxysmal cold" EXACT [] synonym: "postmyocardial infarction syndrome" EXACT [] xref: ICD10CM:I24.1 xref: ICD9CM:411.0 xref: MESH:C538618 is_a: DOID:1787 ! pericarditis is_a: DOID:718 ! autoimmune hemolytic anemia [Term] id: DOID:10516 name: malignant otitis externa def: "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. (DO)" [http://www.merck.com/mmhe/sec19/ch219/ch219c.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm "DO"] xref: ICD10CM:H60.2 xref: ICD9CM:380.14 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10518 name: beach ear def: "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. (DO)" [http://en.wikipedia.org/wiki/Otitis_externa "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm "DO"] synonym: "acute bacterial inflammation of external ear" EXACT [] synonym: "acute otitis externa, diffuse" EXACT [] synonym: "acute swimmer's ear" EXACT [] synonym: "acute swimmers' ear" EXACT [] synonym: "tank ear" EXACT [] xref: ICD9CM:380.12 xref: MONDO:0001051 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10519 name: chronic fungal otitis externa def: "A otomycosis which is persistent and long-lasting or recurrent. (DO)" [http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf "DO"] synonym: "chronic mycotic otitis externa" EXACT [] xref: ICD9CM:380.15 xref: MONDO:0001052 is_a: DOID:0050147 ! otomycosis is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:10520 name: acute infection of pinna def: "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. (DO)" [http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false "DO"] xref: ICD9CM:380.11 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10525 name: double pterygium def: "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/ "DO"] xref: ICD9CM:372.44 is_a: DOID:0002116 ! pterygium created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10526 name: conjunctival pterygium def: "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"] synonym: "web eye" EXACT [] is_a: DOID:0002116 ! pterygium is_a: DOID:10139 ! conjunctival degeneration created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10533 name: viral pneumonia def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO"] synonym: "viral pneumonias" EXACT [] xref: EFO:0007541 xref: ICD10CM:J12.9 xref: ICD9CM:480 xref: MESH:D011024 is_a: DOID:552 ! pneumonia is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10534 name: stomach cancer def: "A gastrointestinal system cancer that is located_in the stomach. (DO)" [http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer "DO", http://en.wikipedia.org/wiki/Stomach "DO"] synonym: "cancer of stomach" EXACT [] synonym: "cancer of the stomach" EXACT [] synonym: "familial diffuse gastric cancer and cleft lip with or without cleft palate" NARROW [] synonym: "gastric cancer" EXACT [] synonym: "gastric cancers" EXACT [] synonym: "IL1B-related condition" BROAD [] synonym: "intestinal gastric cancer" NARROW [] synonym: "MUTYH-related condition" BROAD [1] synonym: "stomach cancers" EXACT [] xref: EFO:0003897 xref: GARD:7704 xref: ICD10CM:C16 xref: ICD10CM:C16.2 xref: ICD10CM:C16.5 xref: ICD10CM:C16.6 xref: ICD9CM:151 xref: ICD9CM:151.4 xref: ICD9CM:151.5 xref: ICD9CM:151.6 xref: MIM:613659 xref: MONDO:0001056 xref: NCI:C3387 xref: NCI:C9331 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9000217 ! Stomach Neoplasms [Term] id: DOID:10536 name: malignant gastric granular cell tumor synonym: "malignant gastric granular cell tumour" EXACT [] synonym: "malignant granular cell tumor of stomach" EXACT [] synonym: "malignant granular cell tumour of stomach" EXACT [] xref: NCI:C5484 is_a: DOID:10534 ! stomach cancer is_a: DOID:9008863 ! Malignant Granular Cell Tumor created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10538 name: gastric fundus cancer def: "A stomach cancer that is located_in the gastric fundus. (DO)" [https://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html "DO"] synonym: "Ca fundus - stomach" EXACT [] synonym: "malignant neoplasm of fundus of stomach" EXACT [] synonym: "malignant tumor of fundus of stomach" EXACT [] xref: ICD10CM:C16.1 xref: ICD9CM:151.3 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10540 name: gastric lymphoma synonym: "familial primary gastric lymphoma" EXACT [] synonym: "lymphoma of the stomach" EXACT [] synonym: "primary gastric lymphoma" EXACT [] xref: GARD:6485 xref: MESH:C535648 xref: NCI:C4636 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:10534 ! stomach cancer [Term] id: DOID:10541 name: microinvasive gastric cancer synonym: "early gastric cancer" EXACT [SNOMEDCT_2005_07_31:276809004] synonym: "Surface gastric cancer" EXACT [NCI2004_11_17:C27131] xref: NCI:C27131 xref: RDO:9002468 is_a: DOID:3717 ! gastric adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10544 name: pylorus cancer synonym: "Ca pylorus - stomach" EXACT [] synonym: "malignant neoplasm of prepylorus" NARROW [] synonym: "malignant neoplasm of pylorus of stomach" EXACT [] synonym: "malignant tumor of pylorus" EXACT [] xref: ICD10CM:C16.4 xref: ICD9CM:151.1 xref: NCI:C188051 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10547 name: pyloric antrum cancer synonym: "malignant neoplasm of antrum of stomach" EXACT [] synonym: "malignant tumor of pyloric antrum" EXACT [] xref: ICD10CM:C16.3 xref: ICD9CM:151.2 is_a: DOID:10544 ! pylorus cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10548 name: cardia cancer def: "A cancer located_in the gastric cardia. (DO)" [PMID:33758614 "DO"] synonym: "Ca cardia - stomach" EXACT [] synonym: "malignant neoplasm of cardia of stomach" EXACT [] xref: ICD10CM:C16.0 xref: ICD9CM:151.0 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10550 name: acute eustachian salpingitis def: "A otosalpingitis with a sudden onset and a short course. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"] synonym: "acute eustachian tube salpingitis" EXACT [SNOMEDCT_2005_07_31:194268005] xref: ICD10CM:H68.01 xref: ICD9CM:381.51 xref: RDO:9003843 is_a: DOID:2000 ! otosalpingitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10554 name: meningoencephalitis def: "A central nervous system disease that involves encephalitis which occurs along with meningitis. (DO)" [http://en.wikipedia.org/wiki/Encephalitis "DO"] synonym: "Cerebromeningitides" EXACT [] synonym: "Cerebromeningitis" EXACT [] synonym: "Encephalomeningitides" EXACT [] synonym: "Encephalomeningitis" EXACT [] synonym: "Meningoencephalitides" EXACT [] xref: EFO:0007364 xref: ICD10CM:A69.22 xref: MESH:D008590 xref: NCI:C34813 is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9471 ! meningitis is_a: DOID:9588 ! encephalitis [Term] id: DOID:10556 name: supine hypotensive syndrome def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. (DO)" [PMID:22537582 "DO", PMID:8164943 "DO"] synonym: "antepartum maternal hypotension syndrome" EXACT [] synonym: "postpartum maternal hypotension syndrome" EXACT [] xref: ICD9CM:669.20 xref: MONDO:0001065 is_a: DOID:178 ! vascular disease is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1056 name: oculocerebrorenal syndrome def: "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (DO)" [https://ghr.nlm.nih.gov/condition/lowe-syndrome "DO", MIM:309000 "DO"] synonym: "cerebro oculo renal syndrome" EXACT [] synonym: "cerebrooculorenal syndrome" EXACT [] synonym: "Lowe Bickel syndrome" EXACT [] synonym: "Lowe disease" EXACT [] synonym: "Lowe Oculocerebrorenal Syndrome" EXACT [] synonym: "Lowe Syndrome" EXACT [] synonym: "Lowe Terrey MacLachlan Syndrome" EXACT [] synonym: "OCRL" EXACT [] synonym: "OCRL1" EXACT [] synonym: "oculocerebrorenal dystrophy" EXACT [] synonym: "oculocerebrorenal syndrome of Lowe" EXACT [] synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" EXACT [] synonym: "renal oculocerebrodystrophy" EXACT [] xref: GARD:3295 xref: ICD10CM:E72.03 xref: MESH:D009800 xref: MIM:309000 xref: MONDO:0010645 xref: NCI:C84940 xref: ORDO:534 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005730 ! Amino Acid Transport Disorders, Inborn is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:10567 name: late yaws def: "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. (DO)" [https://www.who.int/neglected_diseases/diseases/yaws/en/ "DO"] synonym: "gummata and ulcers due to yaws" EXACT [] synonym: "gummata of yaws" EXACT [] synonym: "gummatous frambeside" EXACT [] synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [] synonym: "nodular late yaws" EXACT [] synonym: "ulcers of yaws" EXACT [] synonym: "yaws gummata and ulcers" EXACT [] xref: ICD10CM:A66.1 xref: ICD10CM:A66.4 xref: ICD9CM:102.1 xref: ICD9CM:102.4 xref: NCI:C41354 is_a: DOID:10371 ! yaws created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10568 name: early yaws def: "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. (DO)" [http://www.who.int/mediacentre/factsheets/fs316/en/ "DO"] synonym: "bone and joint lesions due to yaws" EXACT [] synonym: "bone and joint yaws lesion" EXACT [] synonym: "chancre of yaws" EXACT [] synonym: "initial frambesial ulcer" EXACT [] synonym: "initial lesions of yaws" EXACT [] synonym: "initial or primary frambesia" EXACT [] synonym: "primary frambesia" EXACT [] xref: ICD10CM:A66.0 xref: ICD10CM:A66.6 xref: ICD9CM:102.0 xref: ICD9CM:102.6 xref: NCI:C41352 is_a: DOID:10371 ! yaws created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10573 name: osteomalacia def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteomalacia "DO", http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx "DO", http://www.mayoclinic.com/health/osteomalacia/DS00935 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm "DO", http://www.wheelessonline.com/ortho/osteomalacia "DO"] synonym: "adult rickets" EXACT [] xref: EFO:1002027 xref: GARD:7285 xref: ICD9CM:268.2 xref: MESH:D010018 xref: NCI:C26838 is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:10609 ! rickets [Term] id: DOID:10575 name: calcium metabolism disease def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128] synonym: "calcium metabolism disorder" EXACT [] synonym: "calcium metabolism disorders" EXACT [] xref: EFO:0005769 xref: ICD9CM:275.4 xref: MESH:D002128 xref: MONDO:0005557 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:10579 name: leukodystrophy def: "A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)" [http://en.wikipedia.org/wiki/Leukodystrophy "DO"] synonym: "CST3-RELATED LEUKODYSTROPHY" NARROW [] synonym: "POLR-RELATED LEUKODYSTROPHY" NARROW [] xref: GARD:6895 xref: ICD9CM:330.0 xref: MIM:PS221820 xref: NCI:C61253 is_a: DOID:1443 ! cerebral degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10581 name: metachromatic leukodystrophy def: "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)" [http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "DO"] synonym: "ARSA deficiency" EXACT [] synonym: "arylsulfatase A deficiency" EXACT [] synonym: "Arylsulfatase A Deficiency Disease" EXACT [] synonym: "Arylsulfatase A Pseudodeficiency" RELATED [] synonym: "ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE" RELATED [] synonym: "Cerebral sclerosis, Diffuse, Metachromatic Form" EXACT [] synonym: "cerebroside sulfatase deficiency" EXACT [] synonym: "CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY" NARROW [] synonym: "Cerebroside Sulphatase Deficiency Disease" EXACT [] synonym: "deficiency of cerebroside-sulfatase" EXACT [] synonym: "Greenfield's Disease" EXACT [] synonym: "Greenfield Disease" EXACT [] synonym: "Infant Metachromatic Leukodystrophies" EXACT [] synonym: "Infant Metachromatic Leukodystrophy" EXACT [] synonym: "Infant-Type Metachromatic Leukodystrophies" EXACT [] synonym: "Infant-Type Metachromatic Leukodystrophy" EXACT [] synonym: "Juvenile Metachromatic Leukodystrophies" EXACT [] synonym: "Juvenile-Type Metachromatic Leukodystrophies" EXACT [] synonym: "Juvenile-Type Metachromatic Leukodystrophy" EXACT [] synonym: "Metachromatic Leukodystrophies" EXACT [] synonym: "metachromatic leukodystrophies, adult" NARROW [] synonym: "metachromatic leukodystrophies, adult-type" NARROW [] synonym: "metachromatic leukodystrophy, adult" NARROW [] synonym: "metachromatic leukodystrophy, adult-type" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, JUVENILE" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, MILD" NARROW [] synonym: "metachromatic leukodystrophy, severe" NARROW [] synonym: "metachromatic leukodystrophy, variant" NARROW [] synonym: "metachromatic leukoencephalopathy" EXACT [] synonym: "MLD" EXACT [] synonym: "Scholz cerebral sclerosis" EXACT [] synonym: "sulfatide lipidosis" EXACT [] synonym: "sulfatide lipoidosis" EXACT [] xref: GARD:3230 xref: ICD10CM:E75.25 xref: MESH:D007966 xref: MIM:250100 xref: MONDO:0018868 xref: NCI:C61251 xref: ORDO:512 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9002902 ! Sulfatidosis is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:10582 name: Refsum disease def: "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (DO)" [https://en.wikipedia.org/wiki/Refsum_disease "DO", https://medlineplus.gov/genetics/condition/refsum-disease/ "DO", https://rarediseases.org/rare-diseases/refsum-disease/ "DO", PMID:30578512 "DO"] synonym: "Adult Refsum Disease" EXACT [] synonym: "Classic Refsum Disease" EXACT [] synonym: "Hemeralopia Heredoataxia Polyneuritiformis" EXACT [] synonym: "Hereditary Motor And Sensory Neuropathy Iv" EXACT [] synonym: "Hereditary Motor and Sensory Neuropathy Type IV" EXACT [] synonym: "Heredopathia Atactica Polyneuritiformis" EXACT [] synonym: "HMSN 4" EXACT [] synonym: "HMSN4" EXACT [] synonym: "HMSN IV" EXACT [] synonym: "HMSN Type IV" EXACT [] synonym: "HSMN IV" EXACT [] synonym: "PHYH-related condition" BROAD [] synonym: "Phytanic Acid Oxidase Deficiency" EXACT [] synonym: "Phytanic Acid Storage Disease" EXACT [] synonym: "Refsum's disease" EXACT [] synonym: "Refsum's Syndrome" EXACT [] synonym: "Refsum Disease, Phytanic Acid Oxidase Deficiency" EXACT [] synonym: "Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency" EXACT [] synonym: "Refsums disease" EXACT [] synonym: "Refsums Syndrome" EXACT [] synonym: "Refsum Syndrome" EXACT [] synonym: "Refsum Thiebaut Syndrome" EXACT [] xref: GARD:5691 xref: ICD10CM:G60.1 xref: ICD9CM:356.3 xref: MESH:D012035 xref: MIM:266500 xref: MONDO:0009958 xref: NCI:C85043 xref: ORDO:773 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:10584 name: retinitis pigmentosa def: "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)" [http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO", http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "DO", https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa "DO"] synonym: "autosomal dominant retinitis pigmentosa" NARROW [] synonym: "autosomal recessive retinitis pigmentosa" NARROW [] synonym: "pericentral pigmentary retinopathy" EXACT [] synonym: "pigmentary retinopathies" EXACT [] synonym: "pigmentary retinopathy" EXACT [] synonym: "progressive retinal atrophy, type 3" NARROW [] synonym: "retinitis pigmentosa, dominant" NARROW [] synonym: "retinitis pigmentosa, dominant/recessive" NARROW [] synonym: "retinitis pigmentosa, recessive" NARROW [] synonym: "RETINITIS PIGMENTOSA WITH MACULAR INVOLVEMENT" NARROW [] synonym: "RP" EXACT [] synonym: "syndromic retinitis pigmentosa" NARROW [] synonym: "syndromic RP" NARROW [] synonym: "tapetoretinal degeneration" EXACT [] synonym: "tapetoretinal degenerations" EXACT [] xref: EFO:0020026 xref: EFO:0020028 xref: GARD:5694 xref: ICD10CM:H35.52 xref: MESH:D012174 xref: MIM:268000 xref: MIM:PS268000 xref: MONDO:0019200 xref: NCI:C85045 xref: OMIA:001455 xref: OMIA:001918 xref: ORDO:791 is_a: DOID:8466 ! retinal degeneration is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:10587 name: Krabbe disease alt_id: MIM:245200 alt_id: OMIA:000578 def: "An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses." [MESH:D007965] synonym: "beta galactocerebrosidase deficiency" EXACT [] synonym: "classic globoid cell leukodystrophy" EXACT [] synonym: "Diffuse Globoid Body Sclerosis" EXACT [] synonym: "Early Onset Globoid Cell Leukodystrophy" EXACT [] synonym: "galactocerebrosidase deficiencies" EXACT [] synonym: "Galactocerebrosidase Deficiency" EXACT [] synonym: "Galactosylceramidase Deficiency Disease" EXACT [] synonym: "galactosylceramidase deficiency diseases" EXACT [] synonym: "galactosylceramide beta-galactosidase deficiencies" EXACT [] synonym: "Galactosylceramide beta Galactosidase Deficiency" EXACT [] synonym: "Galactosylceramide beta Galactosidase Deficiency Disease" EXACT [] synonym: "galactosylceramide-beta-galactosidase deficiency diseases" EXACT [] synonym: "Galactosylceramide Lipidosis" EXACT [] synonym: "Galactosylcerebrosidase Deficiency" EXACT [] synonym: "Galactosylsphingosine Lipidosis" EXACT [] synonym: "GALC Deficiencies" EXACT [] synonym: "GALC Deficiency" EXACT [] synonym: "GCL" EXACT [] synonym: "GLD" EXACT [] synonym: "Globoid Cell Leukodystrophies" EXACT [] synonym: "Globoid Cell Leukodystrophy" EXACT [] synonym: "Globoid Cell Leukoencephalopathies" EXACT [] synonym: "Globoid Cell Leukoencephalopathy" EXACT [] synonym: "Globoid Leukodystrophies" EXACT [] synonym: "Globoid Leukodystrophy" EXACT [] synonym: "Infantile Globoid Cell Leukodystrophy" EXACT [] synonym: "Krabbe's Disease" EXACT [] synonym: "Krabbe's leukodystrophy" EXACT [] synonym: "Krabbe Leukodystrophy" EXACT [] synonym: "Krabbes disease" EXACT [] synonym: "Krabbes leukodystrophy" EXACT [] synonym: "late onset globoid cell leukodystrophy" EXACT [] synonym: "psychosine lipidosis" EXACT [] xref: GARD:6844 xref: ICD10CM:E75.23 xref: MESH:D007965 xref: NCI:C133088 xref: NCI:C61254 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:10588 name: adrenoleukodystrophy def: "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (DO)" [http://en.wikipedia.org/wiki/Adrenoleukodystrophy "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy "DO"] synonym: "ABCD1-RELATED CONDITION" BROAD [] synonym: "Addison disease and cerebral sclerosis" EXACT [] synonym: "adrenomyeloneuropathy" RELATED [] synonym: "ALD" EXACT [] synonym: "ALD (adrenoleukodystrophy)" EXACT [] synonym: "AMN" RELATED [] synonym: "Bronze Schilder disease" EXACT [] synonym: "diffuse sclerosis" EXACT [] synonym: "Encephalitis periaxialis concentrica" EXACT [] synonym: "Encephalitis periaxialis, Schilder's" EXACT [] synonym: "melanodermic leukodystrophies" EXACT [] synonym: "melanodermic leukodystrophy" EXACT [] synonym: "Schilder Addison Complex" EXACT [] synonym: "Siemerling Creutzfeldt disease" EXACT [] synonym: "sudanophilic cerebral sclerosis" EXACT [] synonym: "X-ALD" EXACT [] synonym: "X-ALD (X-linked adrenoleukodystrophy)" EXACT [] synonym: "X-linked adrenoleukodystrophy" EXACT [] synonym: "X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY" NARROW [] xref: ICD10CM:E71.52 xref: MESH:D000326 xref: MIM:300100 xref: MONDO:0018544 xref: NCI:C61252 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:1059 name: intellectual disability def: "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)" [http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU "DO", https://en.wikipedia.org/wiki/Intellectual_disability "DO"] synonym: "autosomal recessive non-syndromic intellectual disability" NARROW [] synonym: "CLIP1-RELATED CONDITION" NARROW [] synonym: "CLIP1-RELATED INTELLECTUAL DISABILITY" NARROW [] synonym: "DNHD1-RELATED INTELLECTUAL DISABILITY" NARROW [] synonym: "idiocy" EXACT [] synonym: "intellectual deficiency" EXACT [] synonym: "intellectual deficiency, moderate" NARROW [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER" EXACT [] synonym: "Intellectual Development Disorder" EXACT [] synonym: "intellectual development disorders" EXACT [] synonym: "Intellectual Disabilities" EXACT [] synonym: "INTELLECTUAL DISABILITY (MODERATE)" NARROW [] synonym: "intellectual disability, dominant" NARROW [] synonym: "Intellectual disability, mild" NARROW [] synonym: "INTELLECTUAL DISABILITY, PROFOUND" NARROW [] synonym: "INTELLECTUAL DISABILITY, RECESSIVE" NARROW [] synonym: "INTELLECTUAL DISABILITY, SEVERE" NARROW [] synonym: "Intellectual disability syndrome" NARROW [] synonym: "intellectual disability with severe speech impairment" NARROW [] synonym: "INTELLECTUAL FUNCTIONING DISABILITY" EXACT [] synonym: "mental deficiencies" EXACT [] synonym: "mental deficiency" EXACT [] synonym: "mental retardation" EXACT [] synonym: "psychosocial mental retardation" NARROW [] synonym: "psychosocial mental retardations" NARROW [] synonym: "RFX3-RELATED INTELLECTUAL DISABILITY" NARROW [] synonym: "severe intellectual deficiency" NARROW [] synonym: "syndromic intellectual disability" NARROW [] synonym: "TCF7L2-RELATED INTELLECTUAL DISABILITY" NARROW [] xref: EFO:0003847 xref: MESH:D008607 xref: NCI:C84392 xref: NCI:C97250 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9002320 ! Neurobehavioral Manifestations is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:10590 name: mild pre-eclampsia def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. (DO)" [https://www.britannica.com/science/mild-preeclampsia "DO"] xref: ICD9CM:642.40 is_a: DOID:10591 ! pre-eclampsia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10591 name: pre-eclampsia def: "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. (DO)" [http://en.wikipedia.org/wiki/Pre-eclampsia "DO", http://ghr.nlm.nih.gov/condition/preeclampsia "DO", PMID:24400024 "DO"] synonym: "edema proteinuria hypertension gestosis" EXACT [] synonym: "EPH complex" EXACT [] synonym: "EPH Gestosis" EXACT [] synonym: "EPOXIDE HYDROLASE POLYMORPHISM" RELATED [] synonym: "gestational hypertension" EXACT [] synonym: "HELLP" RELATED [] synonym: "HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT" RELATED [] synonym: "hypertension induced by pregnancy" EXACT [] synonym: "PEE" EXACT [] synonym: "Preeclampsia" EXACT [] synonym: "preeclampsia/eclampsia" EXACT [] synonym: "preeclampsia, susceptibility to" RELATED [] synonym: "pregnancy associated hypertension" EXACT [] synonym: "proteinuric hypertension of pregnancy" EXACT [] xref: EFO:0000668 xref: ICD10CM:O14 xref: MESH:D011225 xref: MIM:PS189800 xref: MONDO:0005081 xref: NCI:C34943 xref: NCI:C85021 xref: ORDO:275555 is_a: DOID:9001650 ! Pregnancy-Induced Hypertension [Term] id: DOID:10593 name: idiopathic progressive polyneuropathy xref: ICD9CM:356.4 is_a: DOID:1389 ! polyneuropathy created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10595 name: Charcot-Marie-Tooth disease alt_id: MIM:180800 def: "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)" [https://www.genome.gov/11009201 "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "DO"] synonym: "Charcot Marie disease" EXACT [] synonym: "Charcot Marie Tooth hereditary neuropathy" EXACT [] synonym: "Charcot Marie Tooth muscular atrophy" EXACT [] synonym: "Charcot Marie Tooth syndrome" EXACT [] synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [] synonym: "hereditary areflexic dystasia" EXACT [] synonym: "hereditary areflexic dystasias" EXACT [] synonym: "peroneal muscular atrophies" EXACT [] synonym: "peroneal muscular atrophy" EXACT [] synonym: "Roussy Levy disease" EXACT [] synonym: "Roussy Levy hereditary areflexic dystasia" EXACT [] synonym: "Roussy Levy syndrome" EXACT [] xref: EFO:0004148 xref: GARD:6034 xref: ICD9CM:356.1 xref: MESH:D002607 xref: MIM:PS118220 xref: MONDO:0015626 xref: NCI:C75467 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:106 name: pleural tuberculosis def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. (DO)" [PMID:17426219 "DO"] synonym: "Pearly disease" EXACT [] synonym: "pleural tuberculoses" EXACT [] synonym: "tuberculosis of pleura" EXACT [] synonym: "tuberculous pleurisy" EXACT [] synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [] synonym: "tuberculous pleuritis" EXACT [] xref: EFO:0007446 xref: ICD10CM:A15.6 xref: ICD9CM:010.1 xref: ICD9CM:012.0 xref: MESH:D014396 xref: MONDO:0005922 xref: NCI:C26898 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:1205 ! allergic disease is_a: DOID:1532 ! pleural disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:1060 name: Hartnup disease alt_id: MIM:234500 def: "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. (DO)" [https://www.merriam-webster.com/medical/Hartnup "DO"] synonym: "aminoaciduria, Hartnup type" EXACT [] synonym: "deficiency of tryptophan oxygenase" EXACT [] synonym: "Hartnup disorder" EXACT [] synonym: "HND" EXACT [] synonym: "neutral 1 amino acid transport defect" EXACT [] synonym: "neutral amino acids transport disorder" EXACT [] synonym: "Neutral Amino Acid Transport Defect" EXACT [] synonym: "neutral amino acid transport disorder" EXACT [] synonym: "SLC6A19-RELATED CONDITION" EXACT [] xref: GARD:6569 xref: ICD10CM:E72.02 xref: MESH:D006250 xref: NCI:C84748 xref: ORDO:2116 is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005730 ! Amino Acid Transport Disorders, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:10600 name: chronic tic disorder def: "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO"] synonym: "chronic motor or vocal tic disorder" EXACT [] xref: ICD10CM:F95.1 xref: ICD9CM:307.22 xref: NCI:C116768 is_a: DOID:2769 ! tic disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:10603 name: glucose intolerance def: "A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION." [MESH:D018149] synonym: "glucose intolerances" EXACT [] synonym: "glucose malabsorption" EXACT [] synonym: "impaired glucose tolerance" EXACT [] synonym: "impaired glucose tolerances" EXACT [] synonym: "malabsorption of glucose" EXACT [] xref: ICD10CM:R73.03 xref: MESH:D018149 xref: NCI:C34646 is_a: DOID:4195 ! hyperglycemia [Term] id: DOID:10604 name: lactose intolerance def: "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. (DO)" [https://medlineplus.gov/genetics/condition/lactose-intolerance/ "DO"] synonym: "alactasia" EXACT [] synonym: "Dairy Product Intolerance" EXACT [] synonym: "Hypolactasia" EXACT [] synonym: "Lactose Malabsorption" EXACT [] synonym: "LM - lactose malabsorption" EXACT [] synonym: "milk sugar intolerance" EXACT [] xref: EFO:1000062 xref: ICD10CM:E73 xref: MESH:D007787 xref: NCI:C3154 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10605 name: short bowel syndrome alt_id: MESH:D012778 def: "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. (DO)" [https://rarediseases.org/rare-diseases/short-bowel-syndrome/ "DO"] synonym: "acquired short bowel syndrome" RELATED [] synonym: "CLMP-RELATED CONDITION" EXACT [] synonym: "congenital short bowel syndrome" EXACT [] synonym: "congenital short bowel syndrome 1" EXACT [] synonym: "CONGENITAL SHORT BOWEL SYNDROME, AUTOSOMAL RECESSIVE" EXACT [] synonym: "CSBS" EXACT [] synonym: "short gut syndrome" EXACT [] xref: MIM:615237 xref: NCI:C99059 is_a: DOID:5295 ! intestinal disease is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10606 name: blind loop syndrome def: "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. (DO)" [https://en.wikipedia.org/wiki/Blind_loop_syndrome "DO", PMID:20572300 "DO"] synonym: "bacterial overgrowth syndrome" EXACT [] synonym: "stagnant loop syndrome" EXACT [] xref: EFO:0007175 xref: ICD10CM:K90.2 xref: ICD9CM:579.2 xref: MESH:D001765 xref: MONDO:0005673 xref: NCI:C34431 is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10607 name: tropical sprue def: "A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency." [MESH:D013182] synonym: "Idiopathic Tropical Malabsorption Syndrome" EXACT [] synonym: "tropical steatorrhea" EXACT [] xref: GARD:7824 xref: ICD10CM:K90.1 xref: ICD9CM:579.1 xref: MESH:D013182 xref: NCI:C45428 is_a: DOID:5295 ! intestinal disease is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10608 name: celiac disease alt_id: MIM:212750 alt_id: MIM:607202 alt_id: MIM:609753 alt_id: MIM:609754 alt_id: MIM:609755 alt_id: MIM:611598 alt_id: MIM:612005 alt_id: MIM:612006 alt_id: MIM:612007 alt_id: MIM:612008 alt_id: MIM:612009 alt_id: MIM:612010 alt_id: MIM:612011 def: "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Coeliac_disease "DO", http://www.celiac.org/ "DO", http://www.mayoclinic.com/health/celiac-disease/DS00319 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease "DO"] synonym: "AIS5" NARROW [] synonym: "CELIAC1" RELATED [] synonym: "CELIAC10" RELATED [] synonym: "CELIAC11" RELATED [] synonym: "CELIAC12" RELATED [] synonym: "CELIAC13" RELATED [] synonym: "CELIAC2" RELATED [] synonym: "CELIAC3" RELATED [] synonym: "CELIAC4" RELATED [] synonym: "CELIAC5" RELATED [] synonym: "CELIAC6" RELATED [] synonym: "CELIAC7" RELATED [] synonym: "CELIAC8" RELATED [] synonym: "CELIAC9" RELATED [] synonym: "celiac disease, susceptibility to, 1" RELATED [] synonym: "celiac disease, susceptibility to, 10" RELATED [] synonym: "celiac disease, susceptibility to, 11" RELATED [] synonym: "celiac disease, susceptibility to, 12" RELATED [] synonym: "celiac disease, susceptibility to, 13" RELATED [] synonym: "celiac disease, susceptibility to, 2" RELATED [] synonym: "celiac disease, susceptibility to, 3" RELATED [] synonym: "celiac disease, susceptibility to, 4" RELATED [] synonym: "celiac disease, susceptibility to, 5" RELATED [] synonym: "celiac disease, susceptibility to, 6" RELATED [] synonym: "celiac disease, susceptibility to, 7" RELATED [] synonym: "celiac disease, susceptibility to, 8" RELATED [] synonym: "celiac disease, susceptibility to, 9" RELATED [] synonym: "celiac sprue" EXACT [] synonym: "celiac sprue, susceptibility to, 1" RELATED [] synonym: "coeliac disease" EXACT [] synonym: "Gluten Enteropathies" EXACT [] synonym: "Gluten Enteropathy" EXACT [] synonym: "Gluten-Sensitive Enteropathies" EXACT [] synonym: "gluten-sensitive enteropathy" EXACT [] synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED [] synonym: "GSES" EXACT [] synonym: "idiopathic steatorrhea" EXACT [] synonym: "nontropical sprue" EXACT [] synonym: "sprue" EXACT [] xref: EFO:0001060 xref: GARD:11998 xref: ICD10CM:K90.0 xref: ICD9CM:579.0 xref: MESH:D002446 xref: MIM:PS212750 xref: NCI:C26714 xref: ORDO:555 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10609 name: rickets def: "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. (DO)" [http://en.wikipedia.org/wiki/Rickets "DO", http://www.mayoclinic.com/health/rickets/DS00813 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm "DO", http://www.umm.edu/ency/article/000344.htm "DO", https://en.wikipedia.org/wiki/Rickets#Types "DO", PMID:26365554 "DO"] synonym: "active rickets" EXACT [SNOMEDCT_2005_07_31:190640006] synonym: "rachitides" EXACT [] synonym: "rachitis" EXACT [] synonym: "vitamin D hydroxylation-deficient rickets" EXACT [] xref: EFO:0005583 xref: GARD:5700 xref: ICD10CM:E55.0 xref: MESH:D012279 xref: NCI:C26878 xref: ORDO:289157 is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9006359 ! Vitamin D Deficiency [Term] id: DOID:10610 name: pancreatic steatorrhea synonym: "pancreatic steatorrhoea" EXACT [] xref: ICD10CM:K90.3 xref: ICD9CM:579.4 xref: MONDO:0001079 is_a: DOID:26 ! pancreas disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10611 name: protein-losing enteropathy alt_id: MIM:226300 def: "Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE." [MESH:D011504] synonym: "CD55-RELATED CONDITION" EXACT [] synonym: "CHAPLE" EXACT [] synonym: "COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY" EXACT [] synonym: "Exudative Enteropathies" EXACT [] synonym: "Exudative Enteropathy" EXACT [] synonym: "idiopathic hypercatabolic hypoproteinemia" EXACT [] synonym: "idiopathic hypercatabolic hypoproteinemias" EXACT [] synonym: "protein-losing enteropathies" EXACT [] xref: MESH:D011504 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10612 name: allergic urticaria def: "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. (DO)" [https://www.aafp.org/afp/2017/0601/p717.html "DO"] xref: EFO:1000669 xref: ICD10CM:L50.0 xref: ICD9CM:708.0 is_a: DOID:1205 ! allergic disease is_a: DOID:1555 ! urticaria created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10615 name: acute gonococcal cervicitis def: "An acute cervicitis that is caused by gonorrhea. (DO)" [https://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814 "DO"] synonym: "acute gonorrhea of cervix" EXACT [] synonym: "gonococcal cervicitis" EXACT [] xref: ICD9CM:098.15 xref: MONDO:0001080 is_a: DOID:10616 ! acute cervicitis is_a: DOID:7551 ! gonorrhea created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10616 name: acute cervicitis def: "A cervicitis that is characterized by onset within the past 1 - 3 days. (DO)" [PMID:23606387 "DO"] xref: NCI:C27056 is_a: DOID:2568 ! cervicitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10619 name: lymph node cancer def: "A lymphatic system cancer that is located_in the lymph node. (DO)" [https://www.mountsinai.org/health-library/special-topic/cancer-and-lymph-nodes "DO"] synonym: "lymph node neoplasm" EXACT [] xref: GARD:6932 xref: MONDO:0001082 xref: NCI:C35497 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:9942 ! lymph node disease [Term] id: DOID:1062 name: Fanconi syndrome def: "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (DO)" [http://en.wikipedia.org/wiki/Fanconi_syndrome "DO", http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm "DO"] synonym: "adult Fanconi anemia" EXACT [] synonym: "adult Fanconi syndrome" EXACT [] synonym: "congenital Fanconi syndrome" EXACT [] synonym: "De Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "deToni Fanconi syndrome" EXACT [] synonym: "Fanconi-de-Toni syndrome" EXACT [] synonym: "Fanconi Renotubular Syndrome" EXACT [] synonym: "Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance" EXACT [] synonym: "Fanconi Syndrome without Cystinosis" EXACT [] synonym: "FRTS" EXACT [] synonym: "Hepatic Glycogenosis with Amino Aciduria and Glucosuria" EXACT [] synonym: "Hepatic Glycogenosis with Fanconi Nephropathy" EXACT [] synonym: "Hepatorenal Glycogenosis with Renal Fanconi Syndrome" EXACT [] synonym: "Idiopathic De Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "Lignac Fanconi Syndrome" EXACT [] synonym: "Luder Sheldon Syndrome" EXACT [] synonym: "Neonatal De Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "Primary Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "proximal renal tubular dysfunction" EXACT [] synonym: "pseudo phlorizin diabetes" EXACT [] synonym: "renal Fanconi syndrome" EXACT [] synonym: "RFS" EXACT [] synonym: "Toni-Debre-Fanconi syndrome" EXACT [] xref: GARD:9118 xref: MESH:D005198 xref: MIM:PS134600 xref: NCI:C3034 xref: NCI:C4377 xref: ORDO:3337 is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:10627 name: primary optic atrophy xref: ICD10CM:H47.21 xref: ICD9CM:377.11 xref: RDO:9003215 is_a: DOID:5723 ! optic atrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10629 name: microphthalmia def: "An eye disease where one or both eyeballs are abnormally small. (DO)" [http://en.wikipedia.org/wiki/Microphthalmia "DO", http://ghr.nlm.nih.gov/condition/microphthalmia "DO"] synonym: "anophthalmia/microphthalmia" EXACT [] synonym: "BILATERAL MICROPHTHALMOS" NARROW [] synonym: "COMPLEX MICROPHTHALMIA" NARROW [] synonym: "microphthalmos" EXACT [] synonym: "simple microphthalmos" NARROW [] synonym: "UNILATERAL MICROPHTHALMOS" NARROW [] xref: EFO:0005569 xref: GARD:12085 xref: ICD10CM:Q11.2 xref: ICD9CM:743.1 xref: MESH:D008850 xref: MIM:PS251600 xref: MONDO:0021129 xref: NCI:C98989 is_a: DOID:5614 ! eye disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:1063 name: interstitial nephritis def: "Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction." [MESH:D009395] synonym: "interstitial nephritides" EXACT [] synonym: "renal tubulo-interstitial disease" EXACT [] synonym: "tubulointerstitial nephritides" EXACT [] synonym: "tubulointerstitial nephritis" EXACT [] xref: ICD10CM:N12 xref: MESH:D009395 xref: NCI:C26834 is_a: DOID:10952 ! nephritis [Term] id: DOID:10631 name: partial optic atrophy xref: ICD9CM:377.15 is_a: DOID:5723 ! optic atrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10632 name: Wolfram syndrome def: "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. (DO)" [http://en.wikipedia.org/wiki/Wolfram_syndrome "DO"] synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" EXACT [] synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness" EXACT [] synonym: "DIDMOAD" EXACT [] synonym: "DIDMOAD syndrome" EXACT [] synonym: "DIDMOADUD" EXACT [] synonym: "WFS" EXACT [] xref: GARD:7898 xref: MESH:D014929 xref: NCI:C35133 xref: ORDO:3463 is_a: DOID:9005165 ! Deaf-Blind Disorders is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9409 ! diabetes insipidus is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:1064 name: cystinosis alt_id: MIM:219800 def: "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. (DO)" [http://ghr.nlm.nih.gov/condition/cystinosis "DO", https://en.wikipedia.org/wiki/Cystinosis "DO", PMID:12110740 "DO"] synonym: "CTNS" EXACT [] synonym: "cystine diatheses" EXACT [] synonym: "Cystine Diathesis" EXACT [] synonym: "Cystine Disease" EXACT [] synonym: "cystine diseases" EXACT [] synonym: "Cystine Storage Disease" EXACT [] synonym: "Cystine Storage Diseases" EXACT [] synonym: "Cystinoses" EXACT [] synonym: "CYSTINOSIS, ATYPICAL NEPHROPATHIC" NARROW [] synonym: "Defect of Cystinosin" EXACT [] synonym: "defect of lysosomal cystine transport protein" EXACT [] synonym: "nephropathic cystinoses" EXACT [] synonym: "nephropathic cystinosis" EXACT [] xref: GARD:6236 xref: MESH:D003554 xref: NCI:C129932 xref: NCI:C2976 xref: ORDO:213 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:10646 name: schizotypal personality disorder def: "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. (DO)" [http://en.wikipedia.org/wiki/Schizotypal_personality_disorder "DO"] synonym: "Borderline Schizophrenia" EXACT [] synonym: "borderline schizophrenias" EXACT [] synonym: "Incipient Schizophrenia" EXACT [] synonym: "Incipient Schizophrenias" EXACT [] synonym: "Latent Schizophrenia" EXACT [] synonym: "Latent Schizophrenias" EXACT [] synonym: "Pseudoneurotic Schizophrenia" EXACT [] synonym: "Pseudoneurotic Schizophrenias" EXACT [] synonym: "Pseudopsychopathic Schizophrenia" EXACT [] synonym: "Pseudopsychopathic Schizophrenias" EXACT [] synonym: "schizotypal personality disorders" EXACT [] xref: ICD10CM:F21 xref: ICD9CM:301.22 xref: MESH:D012569 xref: NCI:C92632 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10648 name: acute inferoposterior infarction xref: ICD9CM:410.30 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10649 name: acute inferolateral myocardial infarction xref: ICD9CM:410.20 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10651 name: acute anterolateral myocardial infarction xref: ICD9CM:410.0 xref: MONDO:0001090 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10652 name: Alzheimer's disease def: "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)" [http://en.wikipedia.org/wiki/Alzheimer%27s_disease "DO", http://www.merriam-webster.com/medical/alzheimer%27s%20disease "DO", http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet "DO"] synonym: "acute confusional senile dementia" EXACT [] synonym: "AD" EXACT [] synonym: "alpha-2-macroglobulin polymorphism" RELATED [] synonym: "Alzheimer dementia (AD)" EXACT [] synonym: "Alzheimer disease" EXACT [] synonym: "Alzheimer disease, association with" RELATED [] synonym: "Alzheimer disease, early-onset, susceptibility to" RELATED [] synonym: "Alzheimer disease, late-onset, susceptibility to" RELATED [] synonym: "ALZHEIMER DISEASE, PROTECTION AGAINST" RELATED [] synonym: "Alzheimer Disease, Susceptibility To" RELATED [] synonym: "Alzheimer Sclerosis" EXACT [] synonym: "Alzheimers dementia" EXACT [] synonym: "Alzheimer Syndrome" EXACT [] synonym: "Alzheimer Type Dementia" EXACT [] synonym: "Alzheimer Type Dementia (ATD)" EXACT [] synonym: "Alzheimer Type Senile Dementia" EXACT [] synonym: "Early Onset Alzheimer Disease" NARROW [] synonym: "EARLY-ONSET FAMILIAL ALZHEIMER DISEASE" NARROW [] synonym: "familial Alzheimer disease" NARROW [] synonym: "Familial Alzheimer Disease (FAD)" NARROW [] synonym: "Focal Onset Alzheimer's Disease" NARROW [] synonym: "late-onset Alzheimer disease" NARROW [] synonym: "late-onset Alzheimers disease" NARROW [] synonym: "presenile Alzheimer dementia" NARROW [] synonym: "presenile and senile dementia" NARROW [] synonym: "presenile dementia" NARROW [] synonym: "primary senile degenerative dementia" EXACT [] synonym: "SDAT" EXACT [] synonym: "senile dementia" EXACT [] synonym: "transferrin variant C1/C2" RELATED [] xref: EFO:0000249 xref: EFO:1001870 xref: GARD:10254 xref: ICD9CM:331.0 xref: MESH:D000544 xref: MIM:502500 xref: MONDO:0004975 xref: NCI:C2866 is_a: DOID:1307 ! dementia is_a: DOID:680 ! tauopathy [Term] id: DOID:10655 name: lipoma of colon synonym: "colonic lipoma" EXACT [] xref: NCI:C5493 xref: RDO:9004391 is_a: DOID:4118 ! colon neuroendocrine neoplasm is_a: DOID:6460 ! large intestine lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10656 name: colon leiomyoma synonym: "colonic leiomyoma" EXACT [] xref: MONDO:0001092 xref: NCI:C5492 is_a: DOID:5143 ! large bowel leiomyoma is_a: DOID:5353 ! colonic disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10657 name: colonic lymphangioma synonym: "lymphangioma of colon" EXACT [] xref: MONDO:0001093 xref: NCI:C5500 is_a: DOID:1475 ! lymphangioma is_a: DOID:235 ! colonic benign neoplasm created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:1066 name: residual stage of open angle glaucoma synonym: "open-angle glaucoma residual stage" EXACT [] xref: ICD10CM:H40.15 xref: ICD9CM:365.15 is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:9007746 ! Glaucoma 1, Open Angle, O created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10660 name: mediastinum neuroblastoma def: "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=45418 "DO"] synonym: "neuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6628] xref: EFO:1000367 xref: NCI:C6628 xref: RDO:9002771 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10661 name: mediastinum ganglioneuroblastoma synonym: "ganglioneuroblastoma of mediastinum" EXACT [] xref: NCI:C6627 is_a: DOID:10660 ! mediastinum neuroblastoma is_a: DOID:4163 ! ganglioneuroblastoma is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1067 name: open-angle glaucoma def: "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. (DO)" [http://en.wikipedia.org/wiki/Glaucoma "DO", http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html "DO"] synonym: "compensated glaucoma" EXACT [] synonym: "compensative glaucoma" EXACT [1] synonym: "Glaucoma Simplex" EXACT [] synonym: "Open Angle Glaucomas" EXACT [] synonym: "Pigmentary Glaucoma" NARROW [] synonym: "Pigmentary Glaucomas" NARROW [] synonym: "simple glaucoma" EXACT [1] synonym: "wide-angle glaucoma" EXACT [] xref: EFO:0004190 xref: EFO:0021425 xref: ICD10CM:H40.1 xref: ICD9CM:365.1 xref: MESH:D005902 xref: MONDO:0005338 xref: NCI:C34641 is_a: DOID:1686 ! glaucoma [Term] id: DOID:1068 name: juvenile glaucoma alt_id: MIM:137750 def: "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. (DO)" [https://eyewiki.aao.org/Juvenile_open_angle_glaucoma "DO", https://ghr.nlm.nih.gov/condition/early-onset-glaucoma "DO"] synonym: "Glaucoma 1, Open Angle, A" EXACT [] synonym: "GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE" NARROW [] synonym: "GLAUCOMA 1, OPEN ANGLE, A, DIGENIC" NARROW [] synonym: "glaucoma of childhood" EXACT [] synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1" NARROW [] synonym: "GLC1A" EXACT [] synonym: "GLC1L" NARROW [] synonym: "JOAG1 GLAUCOMA 1, OPEN ANGLE, L" NARROW [] synonym: "MYOC-RELATED CONDITION" EXACT [] synonym: "MYOC-related disorders" BROAD [] xref: MESH:C564234 xref: ORDO:98977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1070 ! primary open angle glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10685 name: separation anxiety disorder def: "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. (DO)" [http://en.wikipedia.org/wiki/Separation_anxiety_disorder "DO"] synonym: "separation anxiety" EXACT [] xref: EFO:1001916 xref: MESH:D001010 is_a: DOID:2030 ! anxiety disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:10686 name: lactocele def: "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. (DO)" [https://en.wikipedia.org/wiki/Galactocele "DO"] synonym: "galactocele" EXACT [] synonym: "galactocoele" EXACT [] synonym: "galactocoele of childhood" EXACT [] synonym: "lacteal cyst" EXACT [] xref: ICD10CM:N64.89 xref: ICD9CM:611.5 xref: MESH:C535998 xref: MONDO:0001099 xref: NCI:C3515 is_a: DOID:10350 ! breast cyst [Term] id: DOID:10688 name: hypertrophy of breast def: "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. (DO)" [https://en.wikipedia.org/wiki/Breast_hypertrophy "DO"] synonym: "breasts enlarged" EXACT [] synonym: "large breast" EXACT [] xref: ICD9CM:611.1 xref: NCI:C3125 is_a: DOID:3463 ! breast disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10690 name: mastitis def: "A breast disease characterized by painful infection of the breast tissue. (DO)" [PMID:25940456 "DO"] synonym: "breast inflammation" EXACT [] synonym: "inflammatory breast disease" EXACT [] synonym: "inflammatory disease of breast" EXACT [] xref: EFO:1001034 xref: MESH:D008413 xref: NCI:C53662 is_a: DOID:3463 ! breast disease is_a: DOID:9001791 ! Puerperal Disorders [Term] id: DOID:10691 name: fat necrosis of breast def: "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html "DO"] synonym: "breast fat necrosis" EXACT [] xref: ICD10CM:N64.1 xref: ICD9CM:611.3 xref: NCI:C3661 is_a: DOID:3463 ! breast disease is_a: DOID:9007691 ! Fat Necrosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10697 name: chronic endophthalmitis xref: ICD9CM:360.03 xref: RDO:9003026 is_a: DOID:9724 ! purulent endophthalmitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10699 name: paragonimiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm "DO"] synonym: "Infection by Paragonimus" EXACT [] synonym: "lung fluke disease" EXACT [] synonym: "lung fluke infection" EXACT [] synonym: "Paragonimus westermani Infection" EXACT [] synonym: "pulmonary paragonimiasis" EXACT [] xref: EFO:0007418 xref: GARD:9815 xref: ICD10CM:B66.4 xref: ICD9CM:121.2 xref: MESH:D010237 xref: MONDO:0005895 xref: NCI:C84995 is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:9004459 ! Trematode Infections is_a: DOID:936 ! brain disease [Term] id: DOID:1070 name: primary open angle glaucoma def: "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/ "DO"] synonym: "chronic simple glaucoma" EXACT [] synonym: "POAG" EXACT [] synonym: "primary open angle glaucoma, ADAMTS10-related" NARROW [] synonym: "primary open angle glaucoma, adult-onset" NARROW [] xref: ICD10CM:H40.11 xref: ICD9CM:365.11 xref: MESH:C562750 xref: MIM:137760 xref: NCI:C35394 xref: OMIA:001870 xref: OMIA:001976 is_a: DOID:1067 ! open-angle glaucoma [Term] id: DOID:10718 name: giardiasis def: "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia duodenalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. (DO)" [http://en.wikipedia.org/wiki/Giardiasis "DO", http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm "DO"] synonym: "beaver feaver" EXACT [] synonym: "giardiases" EXACT [] synonym: "infection by Giardia lamblia" EXACT [] synonym: "lambliases" EXACT [] synonym: "lambliasis" EXACT [] xref: ICD10CM:A07.1 xref: ICD9CM:007.1 xref: MESH:D005873 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9002892 ! Parasitic Intestinal Diseases [Term] id: DOID:10719 name: toxic diffuse goiter xref: EFO:0004237 xref: GARD:6549 xref: ICD9CM:242.00 xref: RDO:9003954 is_a: DOID:7998 ! hyperthyroidism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1073 name: renal hypertension def: "Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN." [MESH:D006977] synonym: "renal hypertensions" EXACT [] xref: EFO:1002039 xref: MESH:D006977 xref: NCI:C3121 is_a: DOID:11130 ! secondary hypertension is_a: DOID:557 ! kidney disease [Term] id: DOID:1074 name: kidney failure def: "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. (DO)" [http://en.wikipedia.org/wiki/Renal_failure "DO", http://www.nlm.nih.gov/medlineplus/kidneyfailure.html "DO"] synonym: "kidney failures" EXACT [] synonym: "kidney insufficiency" EXACT [] synonym: "Renal Failure" EXACT [] synonym: "Renal Failures" EXACT [] synonym: "Renal Insufficiencies" EXACT [] synonym: "renal insufficiency" EXACT [] synonym: "renal unsufficiency" EXACT [] xref: EFO:1002048 xref: ICD10CM:N19 xref: ICD9CM:586 xref: MESH:D051437 xref: MONDO:0001106 xref: NCI:C4376 is_a: DOID:557 ! kidney disease [Term] id: DOID:10742 name: cerebral lipidosis xref: ICD9CM:330.1 is_a: DOID:1443 ! cerebral degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10744 name: broad ligament malignant neoplasm def: "A uterine adnexa cancer that is located_in the broad ligament. (DO)" [PMID:26140828 "DO"] synonym: "malignant neoplasm of broad ligament of uterus" EXACT [] xref: ICD10CM:C57.1 xref: ICD9CM:183.3 xref: NCI:C179934 is_a: DOID:11747 ! uterine adnexa cancer created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10754 name: otitis media alt_id: MIM:166760 def: "A otitis which involves inflammation of the middle ear. (DO)" [http://en.wikipedia.org/wiki/Otitis_media "DO"] synonym: "A2ML1-RELATED CONDITION" EXACT [] synonym: "COME/ROM" EXACT [] synonym: "FAMILIAL OTITIS MEDIA" NARROW [] synonym: "Middle Ear Inflammation" EXACT [] synonym: "Nonsyndromic otitis media" NARROW [] synonym: "OMS" EXACT [] synonym: "OTITIS MEDIA, CHRONIC/RECURRENT" NARROW [] synonym: "OTITIS MEDIA, SUSCEPTIBILITY TO" RELATED [] synonym: "SUSCEPTIBILITY TO NONSYNDROMIC OTITIS MEDIA" RELATED [] xref: EFO:0004992 xref: ICD10CM:H66.9 xref: ICD9CM:382.9 xref: MESH:D010033 xref: NCI:C34885 is_a: DOID:5100 ! middle ear disease is_a: DOID:9007481 ! Otitis [Term] id: DOID:10755 name: petrositis def: "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. (DO)" [http://medical-dictionary.thefreedictionary.com/petrositis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm "DO"] synonym: "acute petrositis" EXACT [] synonym: "chronic petrositis" EXACT [] synonym: "Gradenigo's Syndrome" EXACT [] synonym: "Gradenigo Lannois syndrome" EXACT [] synonym: "Gradenigos Syndrome" EXACT [] synonym: "Gradenigo Syndrome" EXACT [] synonym: "inflammation of petrous bone" RELATED [] synonym: "petrositides" EXACT [] synonym: "petrous apicitides" EXACT [] synonym: "petrous apicitis" EXACT [] xref: ICD10CM:H70.2 xref: ICD10CM:H70.21 xref: ICD10CM:H70.22 xref: ICD9CM:383.2 xref: ICD9CM:383.21 xref: ICD9CM:383.22 xref: MESH:D059270 xref: MONDO:0001109 is_a: DOID:1019 ! osteomyelitis is_a: DOID:10754 ! otitis media [Term] id: DOID:1076 name: chronic pyelonephritis xref: ICD10CM:N11 xref: ICD10CM:N11.9 xref: ICD9CM:590.0 xref: MONDO:0001110 xref: NCI:C123216 is_a: DOID:11400 ! pyelonephritis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10762 name: portal hypertension def: "Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN." [MESH:D006975] synonym: "Cruveilhier Baumgarten Syndrome" EXACT [] synonym: "NCPH" EXACT [] xref: EFO:0000666 xref: GARD:8229 xref: ICD10CM:K76.6 xref: ICD9CM:572.3 xref: MESH:D006975 xref: MIM:PS617068 xref: NCI:C3119 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:10763 name: hypertension def: "An artery disease characterized by chronic elevated blood pressure in the arteries. (DO)" [https://en.wikipedia.org/wiki/Hypertension "DO", PMID:24352797 "DO"] synonym: "high blood pressure" EXACT [] synonym: "high blood pressures" EXACT [] synonym: "HTN" EXACT [] synonym: "hyperpiesia" EXACT [] synonym: "hypertensive disease" RELATED [] synonym: "increased aldosterone to renin ratio" RELATED [] synonym: "vascular hypertensive disorder" EXACT [] xref: EFO:0000537 xref: ICD9CM:401-405.99 xref: MESH:D006973 xref: NCI:C3117 is_a: DOID:0050828 ! artery disease [Term] id: DOID:10772 name: thrombotic thrombocytopenic purpura def: "An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE." [MESH:D011697] synonym: "ADAMTS13-related condition" BROAD [] synonym: "congenital microangiopathic hemolytic anemia" EXACT [] synonym: "congenital thrombotic thrombocytopenic purpura" EXACT [] synonym: "deficiency of Upshaw factor" EXACT [] synonym: "familial thrombotic microangiopathy" EXACT [] synonym: "Familial Thrombotic Thrombocytopenia Purpura" EXACT [] synonym: "Familial Thrombotic Thrombocytopenic Purpura" EXACT [] synonym: "familial thrombotic thrombocytopenic purpura / haemolytic uraemic syndrome" NARROW [] synonym: "familial TTP/HUS" NARROW [] synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [] synonym: "hereditary thrombotic thrombocytopenic purpura, infantile- or adult-onset" EXACT [] synonym: "microangiopathic hemolytic anemia" EXACT [] synonym: "Moschcowitz's syndrome" EXACT [] synonym: "Moschcowitz disease" EXACT [] synonym: "Moschkowitz disease" EXACT [] synonym: "thrombotic thrombocytopenic purpura, adult onset" NARROW [] synonym: "thrombotic thrombocytopenic purpura, chronic relapsing" NARROW [] synonym: "thrombotic thrombopenic purpura" EXACT [] synonym: "TTP" EXACT [] synonym: "Upshaw-Schulman syndrome" EXACT [] synonym: "USS" EXACT [] xref: GARD:9430 xref: ICD10CM:M31.19 xref: MESH:D011697 xref: MIM:274150 xref: MONDO:0010122 xref: NCI:C78797 is_a: DOID:2452 ! thrombophilia is_a: DOID:9005876 ! Thrombocytopenic Purpura [Term] id: DOID:10773 name: bubonic plague alt_id: DOID:0050068 def: "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. (DO)" [https://en.wikipedia.org/wiki/Bubonic_plague "DO"] synonym: "black death" EXACT [] synonym: "pestis minor" EXACT [] xref: GARD:183 xref: ICD10CM:A20.0 xref: ICD9CM:020.0 is_a: DOID:3482 ! plague is_a: DOID:9942 ! lymph node disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10778 name: fiedler's myocarditis synonym: "fiedler myocarditis" EXACT [] synonym: "idiopathic myocarditis" EXACT [] synonym: "isolated (Fiedler's) myocarditis" EXACT [] xref: ICD10CM:I40.1 xref: ICD9CM:422.91 is_a: DOID:3951 ! acute myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10779 name: septic myocarditis def: "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. (DO)" [PMID:27574633 "DO"] xref: ICD10CM:I40.0 xref: ICD9CM:422.92 is_a: DOID:3951 ! acute myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10780 name: primary polycythemia def: "A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. (DO)" [https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia "DO"] synonym: "familial erythrocytosis" EXACT [] synonym: "familiar polycythemia" EXACT [] synonym: "HEMOGLOBIN JOHNSTOWN" RELATED [] synonym: "HEMOGLOBIN NEW MEXICO" RELATED [] synonym: "primary polycythemias" EXACT [] xref: ICD9CM:289.6 xref: MIM:PS133100 xref: NCI:C26955 xref: RDO:9002589 is_a: DOID:8432 ! polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:10782 name: mesenteric lymphadenitis def: "INFLAMMATION of LYMPH NODES in the MESENTERY." [MESH:D008640] synonym: "mesenteric adenitis" EXACT [] synonym: "mesenteric lymphadenitides" EXACT [] xref: ICD10CM:I88.0 xref: ICD9CM:289.2 xref: MESH:D008640 xref: NCI:C26830 is_a: DOID:1602 ! lymphadenitis is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:10783 name: methemoglobinemia def: "The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)" [MESH:D008708] synonym: "HEMOGLOBIN TUBINGEN" RELATED [] synonym: "methemoglobinemias" EXACT [] xref: ICD10CM:D74 xref: ICD9CM:289.7 xref: MESH:D008708 xref: NCI:C34817 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:10784 name: Queensland tick typhus def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Australian tick typhus" EXACT [] synonym: "North Queensland tick typhus" EXACT [] synonym: "Rickettsia australis spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:10787 name: premature menopause def: "An ovarian dysfunction that is the loss of normal ovarian function before age 40. (DO)" [PMID:26316242 "DO"] synonym: "menopause praecox" EXACT [] xref: EFO:0009005 xref: ICD10CM:E28.31 xref: ICD9CM:256.31 xref: MESH:D008594 xref: MONDO:0001119 xref: NCI:C80099 is_a: DOID:1414 ! ovarian dysfunction [Term] id: DOID:1079 name: setariasis def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. (DO)" [http://www.jstor.org/stable/pdfplus/3277411.pdf "DO"] synonym: "infectious disease by Setaria" EXACT [] synonym: "setariases" EXACT [] xref: EFO:0007482 xref: MESH:D012719 xref: MONDO:0005957 is_a: DOID:1080 ! filariasis is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:10790 name: chronic frontal sinusitis def: "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] xref: ICD10CM:J32.1 xref: ICD9CM:473.1 xref: NCI:C34473 is_a: DOID:10791 ! frontal sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10791 name: frontal sinusitis def: "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO", http://www3.niaid.nih.gov/topics/sinusitis/overview.htm "DO"] synonym: "frontal sinusitides" EXACT [] xref: MESH:D015522 xref: NCI:C34626 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:10792 name: chronic maxillary sinusitis def: "A maxillary sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "chronic antritis" EXACT [] xref: ICD9CM:473.0 xref: NCI:C34477 is_a: DOID:2051 ! maxillary sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10793 name: chronic sphenoidal sinusitis def: "A sphenoid sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "Sphenoidal sinus-chr." EXACT [SNOMEDCT_2005_07_31:266384001] xref: ICD10CM:J32.3 xref: ICD9CM:473.3 xref: NCI:C34480 xref: RDO:9003990 is_a: DOID:10794 ! sphenoid sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10794 name: sphenoid sinusitis def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "Sphenoidal Sinusitides" EXACT [] synonym: "Sphenoidal Sinusitis" EXACT [] synonym: "Sphenoid Sinusitides" EXACT [] xref: EFO:0007489 xref: MESH:D015524 xref: NCI:C35031 is_a: DOID:0050127 ! sinusitis is_a: DOID:0080001 ! bone disease [Term] id: DOID:1080 name: filariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. (DO)" [http://en.wikipedia.org/wiki/Filariasis "DO"] synonym: "disease due to superfamily Filarioidea" EXACT [] synonym: "elaeophoriases" EXACT [] synonym: "elaeophoriasis" EXACT [] synonym: "Filariases" EXACT [] synonym: "filarioidea infection" EXACT [] synonym: "filarioidea infections" EXACT [] xref: ICD10CM:B74 xref: ICD9CM:125.9 xref: MESH:D005368 xref: NCI:C34611 is_a: DOID:37 ! skin disease is_a: DOID:75 ! lymphatic system disease is_a: DOID:9003105 ! Spirurida Infections [Term] id: DOID:10802 name: acute gonococcal epididymo-orchitis synonym: "gonococcal epididymo-orchitis" EXACT [] xref: ICD9CM:098.13 is_a: DOID:7551 ! gonorrhea is_a: DOID:9401 ! epididymo-orchitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10808 name: gastric ulcer def: "Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)." [MESH:D013276] synonym: "acute gastric ulcer with haemorrhage and perforation" EXACT [] synonym: "acute gastric ulcer with hemorrhage and obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage, with obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage, with perforation AND with obstruction" EXACT [] synonym: "acute gastric ulcer without hemorrhage and without perforation" EXACT [] synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] synonym: "acute gastric ulcer with perforation" EXACT [] synonym: "acute gastric ulcer with perforation AND obstruction" EXACT [] synonym: "acute gastric ulcer with perforation, with obstruction" EXACT [] synonym: "bleeding acute gastric ulcer" EXACT [] synonym: "chronic gastric ulcer without hemorrhage AND without perforation" EXACT [] synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction" EXACT [] synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" EXACT [] synonym: "gastric ulcers" EXACT [] synonym: "Stomach Ulcer" EXACT [] synonym: "stomach ulcers" EXACT [] xref: EFO:0009454 xref: ICD10CM:K25 xref: ICD9CM:531 xref: MESH:D013276 xref: NCI:C3388 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:1081 name: mansonelliasis def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. (DO)" [http://en.wikipedia.org/wiki/Mansonelliasis "DO"] synonym: "Acanthocheilonema perstans Infection" EXACT [] synonym: "Acanthocheilonema perstans infections" EXACT [] synonym: "Dipetalonema perstans Infection" EXACT [] synonym: "Dipetalonema perstans Infections" EXACT [] synonym: "Mansonella perstans Infection" EXACT [] synonym: "Mansonella perstans Infections" EXACT [] synonym: "Mansonelliases" EXACT [] synonym: "Mansonelloses" EXACT [] synonym: "mansonellosis" EXACT [] xref: EFO:0007357 xref: GARD:8216 xref: ICD10CM:B74.4 xref: MESH:D008368 xref: NCI:C84882 is_a: DOID:1080 ! filariasis [Term] id: DOID:10810 name: tibialis tendinitis xref: ICD9CM:726.72 is_a: DOID:971 ! tendinitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10811 name: nasal cavity cancer def: "A respiratory system cancer that is located_in the nasal cavity. (DO)" [http://en.wikipedia.org/wiki/Nasal_cavity "DO"] synonym: "malignant neoplasm of nasal cavities" EXACT [] synonym: "malignant tumor of the nasal cavity" EXACT [] xref: ICD10CM:C30.0 xref: ICD9CM:160.0 xref: MONDO:0001128 xref: NCI:C4918 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:2163 ! nasal cavity disease is_a: DOID:9006040 ! Sinonasal Neoplasms created_by: rgd creation_date: 2017-09-26T00:00:00Z [Term] id: DOID:10812 name: nasal cavity olfactory neuroblastoma synonym: "olfactory neuroblastoma of the nasal cavity" EXACT [] xref: NCI:C7604 is_a: DOID:10811 ! nasal cavity cancer is_a: DOID:369 ! olfactory neuroblastoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10813 name: nasal cavity lymphoma synonym: "lymphoma of nasal cavity" EXACT [] synonym: "lymphoma of the nasal cavity" EXACT [] xref: NCI:C6074 is_a: DOID:0060058 ! lymphoma is_a: DOID:10811 ! nasal cavity cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10816 name: duodenum adenocarcinoma def: "A duodenum cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of duodenum" EXACT [] synonym: "duodenal adenocarcinoma" EXACT [] xref: EFO:1000223 xref: MONDO:0006186 xref: NCI:C7889 is_a: DOID:10021 ! duodenum cancer is_a: DOID:4906 ! small intestine adenocarcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:10817 name: sexual sadism def: "A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious." [MESH:D012448] synonym: "sadism" EXACT [] synonym: "sexual sadism disorder" EXACT [] xref: ICD10CM:F65.52 xref: ICD9CM:302.84 xref: MESH:D012448 xref: MONDO:0001132 xref: NCI:C94358 is_a: DOID:0060043 ! sexual health disorder is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:1082 name: dirofilariasis def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. (DO)" [https://en.wikipedia.org/wiki/Dirofilariasis "DO"] synonym: "Dirofilaria infectious disease" EXACT [] synonym: "Dirofilariases" EXACT [] synonym: "Heartworm Disease" EXACT [] synonym: "infection by Dirofilaria" EXACT [] xref: EFO:0007239 xref: GARD:11908 xref: ICD10CM:B74.8 xref: MESH:D004184 is_a: DOID:1080 ! filariasis is_a: DOID:850 ! lung disease is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:10823 name: malignant essential hypertension synonym: "accelerated essential hypertension" EXACT [] xref: ICD9CM:401.0 xref: NCI:C34802 is_a: DOID:10824 ! malignant hypertension is_a: DOID:10825 ! essential hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10824 name: malignant hypertension def: "A hypertension that is characterized by rapid onset of extremely high blood pressure. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118 "DO"] xref: EFO:1001031 xref: MESH:D006974 xref: NCI:C3118 is_a: DOID:10763 ! hypertension [Term] id: DOID:10825 name: essential hypertension def: "A hypertension with no known cause. It is the most common type of hypertension. (DO)" [http://en.wikipedia.org/wiki/Essential_hypertension "DO", http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html "DO"] synonym: "AGT-related condition" BROAD [] synonym: "CYP3A5-related condition" BROAD [] synonym: "ECE1-related condition" BROAD [] synonym: "EHT" EXACT [] synonym: "essential hypertension, body mass-related" NARROW [] synonym: "essential hypertension, genetic" NARROW [] synonym: "essential hypertension, kidney function-related" NARROW [] synonym: "essential hypertension, susceptibility to" RELATED [] synonym: "essential hypertension, susceptibility to, 1" RELATED [] synonym: "essential hypertension, susceptibility to, 2" RELATED [] synonym: "essential hypertension, susceptibility to, 3" RELATED [] synonym: "essential hypertension, susceptibility to, 4" RELATED [] synonym: "essential hypertension, susceptibility to, 5" RELATED [] synonym: "essential hypertension, susceptibility to, 6" RELATED [] synonym: "essential hypertension, susceptibility to, 7" RELATED [] synonym: "essential hypertension, susceptibility to, 8" RELATED [] synonym: "GNB3 polymorphism" BROAD [] synonym: "GNB3-related ccondition" BROAD [] synonym: "Hypertension, salt-sensitive essential, susceptibility to" RELATED [] synonym: "HYT1" RELATED [] synonym: "HYT2" RELATED [] synonym: "HYT3" RELATED [] synonym: "HYT4" RELATED [] synonym: "HYT5" RELATED [] synonym: "HYT6" RELATED [] synonym: "HYT7" RELATED [] synonym: "HYT8" RELATED [] synonym: "idiopathic hypertension" EXACT [] synonym: "primary hypertension" EXACT [] xref: EFO:1002032 xref: ICD10CM:I10 xref: ICD9CM:401 xref: MESH:D000075222 xref: MIM:145500 xref: MIM:603918 xref: MIM:604329 xref: MIM:607329 xref: MIM:608742 xref: MIM:610261 xref: MIM:610262 xref: MIM:610948 xref: MIM:611014 xref: MONDO:0001134 xref: NCI:C3478 xref: ORDO:243761 is_a: DOID:10763 ! hypertension [Term] id: DOID:10834 name: voyeurism def: "A paraphilia characterized by repetitive looking at unsuspecting people, usually strangers, who are either naked, in the act of disrobing, or engaging in sexual activity, as the method for achieving sexual excitement." [MESH:D014843] synonym: "Voyeurisms" EXACT [] xref: ICD10CM:F65.3 xref: ICD9CM:302.82 xref: MESH:D014843 xref: NCI:C94360 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:10835 name: chylocele of tunica vaginalis xref: ICD9CM:608.84 xref: MONDO:0001136 is_a: DOID:2519 ! testicular disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:10841 name: Eastern equine encephalitis def: "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. (DO)" [http://www.cdc.gov/EasternEquineEncephalitis/index.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK557692/ "DO"] synonym: "EEE" RELATED [] synonym: "neuroinvasive Eastern equine encephalitis virus infection" EXACT [] xref: EFO:0007242 xref: GARD:10821 xref: ICD10CM:A83.2 xref: ICD9CM:062.2 xref: MESH:D020242 xref: MONDO:0005736 xref: ORDO:83594 is_a: DOID:9002578 ! Equine Encephalomyelitis is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:10842 name: Murray Valley encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC5324805/ "DO", https://www.health.nsw.gov.au/Infectious/factsheets/Pages/murray-valley-encephalitis.aspx "DO", PMID:13007862 "DO"] synonym: "Australian encephalitis" EXACT [] synonym: "Australian X disease" EXACT [] xref: ICD10CM:A83.4 xref: ICD9CM:062.4 is_a: DOID:646 ! viral encephalitis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10843 name: Western equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. (DO)" [https://www.cdc.gov/wee/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK470228/ "DO"] synonym: "WEE" RELATED [] xref: EFO:0007546 xref: GARD:7888 xref: ICD10CM:A83.1 xref: ICD9CM:062.1 xref: MESH:D020241 xref: NCI:C85227 is_a: DOID:9002578 ! Equine Encephalomyelitis [Term] id: DOID:10844 name: Japanese encephalitis def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. (DO)" [https://www.cdc.gov/japanese-encephalitis/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK470423/ "DO", https://www.who.int/news-room/fact-sheets/detail/japanese-encephalitis "DO"] synonym: "Japanese B Encephalitis" EXACT [] synonym: "Japanese B Viral Encephalitis" EXACT [] xref: EFO:0007332 xref: GARD:6797 xref: ICD10CM:A83.0 xref: ICD9CM:062.0 xref: MESH:D004672 xref: NCI:C34577 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:10845 name: St. Louis encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. (DO)" [https://www.cdc.gov/sle/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK470426/ "DO"] synonym: "neuroinvasive St. Louis encephalitis virus infection" EXACT [] synonym: "Saint Louis Encephalitis" EXACT [] synonym: "St. Louis Meningoencephalitides" EXACT [] synonym: "St. Louis Meningoencephalitis" EXACT [] synonym: "St. Louis Viral Encephalitis" EXACT [] synonym: "Type C Lethargic Encephalitis" EXACT [] xref: EFO:0007495 xref: ICD10CM:A83.3 xref: ICD9CM:062.3 xref: MESH:D004674 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:10846 name: angiodysplasia of intestine xref: ICD9CM:569.84 xref: MONDO:0001138 is_a: DOID:2494 ! angiodysplasia is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10849 name: sexual masochism def: "Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism." [MESH:D008398] synonym: "masochism" EXACT [] synonym: "masochisms" EXACT [] synonym: "sexual masochisms" EXACT [] xref: ICD10CM:F65.51 xref: ICD9CM:302.83 xref: MESH:D008398 xref: NCI:C94356 is_a: DOID:0060043 ! sexual health disorder is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:1085 name: Edwards syndrome def: "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. (DO)" [https://ghr.nlm.nih.gov/condition/trisomy-18 "DO"] synonym: "complete trisomy 18 syndrome" EXACT [] synonym: "E3 trisomy" EXACT [] synonym: "mosaic trisomy 18 syndrome" EXACT [] synonym: "trisomy 18" EXACT [] synonym: "trisomy 18 syndrome" EXACT [] synonym: "trisomy E syndrome" EXACT [] xref: ICD9CM:758.2 xref: MESH:D000073842 xref: NCI:C101362 xref: NCI:C36626 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:10852 name: middle ear cholesterol granuloma def: "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. (DO)" [http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/16354369 "DO"] synonym: "cholesterin granuloma" EXACT [] synonym: "cholesterin granuloma of middle ear" EXACT [] xref: NCI:C3655 is_a: DOID:10754 ! otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10854 name: salivary gland disease def: "A mouth disease located_in the salivary gland. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html "DO"] synonym: "non-neoplastic salivary gland disease" EXACT [] synonym: "salivary gland diseases" EXACT [] xref: EFO:0008581 xref: ICD9CM:527.8 xref: MESH:D012466 is_a: DOID:403 ! mouth disease [Term] id: DOID:10863 name: paralytic squint synonym: "incomitant dissociation" EXACT [] synonym: "paralytic strabismus" EXACT [] xref: EFO:0009678 xref: ICD10CM:H49 xref: ICD9CM:378.5 xref: MONDO:0001143 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10864 name: partial third-nerve palsy synonym: "partial third-nerve palsies" EXACT [] synonym: "Third nerve palsy with pupil sparing" EXACT [SNOMEDCT_2005_07_31:194118007] synonym: "Third or oculomotor nerve palsy, partial" EXACT [ICD9CM_2006:378.51] xref: ICD9CM:378.51 is_a: DOID:10863 ! paralytic squint is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:10865 name: abducens nerve palsy alt_id: DOID:9002293 def: "A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. (DO)" [https://www.aapos.org/glossary/sixth-nerve-palsy "DO", https://www.ncbi.nlm.nih.gov/books/NBK482177/ "DO", PMID:35356946 "DO"] synonym: "6th nerve palsies" EXACT [] synonym: "6th Nerve Palsy" EXACT [] synonym: "abducens nerve disease" EXACT [] synonym: "abducens nerve disorder" EXACT [] synonym: "Abducens Nerve Palsies" EXACT [] synonym: "abducens nerve weakness" EXACT [] synonym: "Abducens Palsy" EXACT [] synonym: "Abducens Palsy, Childhood, Benign Recurrent" EXACT [] synonym: "Benign Recurrent Abducens Palsy, Children" EXACT [] synonym: "Benign Recurrent Abducens Palsy of Childhood" EXACT [] synonym: "Cranial Nerve VI Diseases" EXACT [] synonym: "Cranial Nerve VI Palsy" EXACT [] synonym: "disorder of abducent nerve" EXACT [] synonym: "Lateral rectus muscle denervation paresis" EXACT [] synonym: "lateral rectus muscle innervation disorder" EXACT [] synonym: "Lateral Rectus Palsies" EXACT [] synonym: "Lateral Rectus Palsy" EXACT [] synonym: "Nerve Palsies, VI" EXACT [] synonym: "Sixth Cranial Nerve Diseases" EXACT [] synonym: "sixth cranial nerve disorder" EXACT [] synonym: "Sixth Cranial Nerve Disorders" EXACT [] synonym: "Sixth Cranial Nerve Palsy" EXACT [] synonym: "Sixth Nerve Palsies" EXACT [] synonym: "Sixth Nerve Palsy" EXACT [] synonym: "VI Nerve Palsy" EXACT [] synonym: "VIth cranial nerve diseases" EXACT [] synonym: "VIth nerve disorder" EXACT [] synonym: "VIth nerve paralysis" EXACT [] xref: GARD:9482 xref: MESH:D020434 xref: MIM:100200 xref: MONDO:0007033 xref: NCI:C27592 xref: NCI:C27593 is_a: DOID:3817 ! cranial nerve palsy [Term] id: DOID:10866 name: total third-nerve palsy synonym: "Third nerve palsy with pupil involved" EXACT [SNOMEDCT_2005_07_31:194119004] synonym: "Third or oculomotor nerve palsy, total" EXACT [ICD9CM_2006:378.52] synonym: "total oculomotor nerve palsy" EXACT [] synonym: "total third-nerve palsies" EXACT [] xref: ICD9CM:378.52 is_a: DOID:10863 ! paralytic squint is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:10869 name: fourth cranial nerve palsy alt_id: MIM:136480 synonym: "familial congenital fourth cranial nerve palsy" EXACT [] synonym: "familial congenital trochlear nerve palsy" EXACT [] synonym: "fourth nerve palsies" EXACT [] synonym: "fourth nerve palsy" EXACT [] synonym: "fourth or trochlear nerve palsy" EXACT [] synonym: "Strabismus from Superior Oblique Palsy" EXACT [] synonym: "Superior Oblique Oculomotor Palsy, Familial Congenital" EXACT [] synonym: "trochlear nerve palsies" EXACT [] synonym: "trochlear nerve palsy" EXACT [] xref: MESH:C565007 is_a: DOID:10863 ! paralytic squint is_a: DOID:13864 ! trochlear nerve disease is_a: DOID:3817 ! cranial nerve palsy [Term] id: DOID:10871 name: age related macular degeneration def: "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. (DO)" [http://en.wikipedia.org/wiki/Macular_degeneration "DO"] synonym: "age related maculopathies" EXACT [] synonym: "age related maculopathy" EXACT [] synonym: "senile macular degeneration" EXACT [] synonym: "senile macular retinal degeneration" EXACT [] xref: EFO:0001365 xref: ICD10CM:H35.30 xref: ICD9CM:362.50 xref: MIM:PS603075 xref: MONDO:0005150 xref: NCI:C84391 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2007 ! degeneration of macula and posterior pole created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:10873 name: Kuhnt-Junius degeneration def: "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [MESH:D057135] synonym: "exudative age-related macular degeneration" EXACT [] synonym: "Exudative Macular Degeneration" EXACT [] synonym: "Exudative senile macular degeneration of retina" EXACT [ICD9CM_2006:362.52] synonym: "Neovascular Age-Related Macular Degeneration" EXACT [] synonym: "Senile macular degeneration, wet" EXACT [MTHICD9_2006:362.52] synonym: "Wet Macular Degeneration" EXACT [] synonym: "Wet Macular Degenerations" EXACT [] synonym: "Wet senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:16018000] xref: EFO:0004683 xref: ICD10CM:H35.32 xref: ICD9CM:362.52 xref: MESH:D057135 xref: RDO:0007784 is_a: DOID:2007 ! degeneration of macula and posterior pole is_a: DOID:4448 ! macular degeneration [Term] id: DOID:1088 name: meningocele def: "A spina bifida that is characterized by herniation of the meninges between the vertebrae. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida#Meningocele "DO"] synonym: "Acquired Meningocele" EXACT [] synonym: "acquired meningoceles" EXACT [] synonym: "herniation of meninges" EXACT [] synonym: "Meningeal Herniation" EXACT [] synonym: "meningeal herniations" EXACT [] synonym: "Meninges Herniation" EXACT [] synonym: "meninges herniations" EXACT [] synonym: "Meningoceles" EXACT [] synonym: "rudimentary meningocele" EXACT [] synonym: "rudimentary meningoceles" EXACT [] synonym: "traumatic meningocele" EXACT [] synonym: "traumatic meningoceles" EXACT [] xref: MESH:D008588 is_a: DOID:0080016 ! spina bifida is_a: DOID:1283 ! enterocele [Term] id: DOID:10880 name: iliac vein thrombophlebitis synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT [] xref: ICD10CM:I80.21 xref: ICD9CM:451.81 is_a: DOID:3875 ! thrombophlebitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10881 name: hand, foot and mouth disease def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. (DO)" [https://www.cdc.gov/hand-foot-mouth/about/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK431082/ "DO"] synonym: "Hand, Foot, Mouth Disease" EXACT [] synonym: "HFMD" EXACT [] synonym: "vesicular stomatitis and exanthem" EXACT [] xref: EFO:0007294 xref: ICD10CM:B08.4 xref: ICD9CM:074.3 xref: MESH:D006232 xref: MONDO:0005779 xref: NCI:C128439 is_a: DOID:9000220 ! Coxsackievirus Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10882 name: epidemic pleurodynia def: "A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. (DO)" [https://en.wikipedia.org/wiki/Bornholm_disease "DO", https://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia "DO", PMID:30364740 "DO"] synonym: "Bamble disease" EXACT [] synonym: "Bornholm disease" EXACT [] synonym: "devil's grip" EXACT [] synonym: "epidemic myalgia" EXACT [] synonym: "epidemic myositis" EXACT [] synonym: "epidemic pleurisy" EXACT [] synonym: "Epidemic Pleurodynias" EXACT [] xref: EFO:0007259 xref: ICD10CM:B33.0 xref: ICD9CM:074.1 xref: MESH:D011000 xref: MONDO:0005751 is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000220 ! Coxsackievirus Infections [Term] id: DOID:10883 name: herpangina def: "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. (DO)" [http://en.wikipedia.org/wiki/Herpangina "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK507792/ "DO"] synonym: "herpanginas" EXACT [] synonym: "vesicular pharyngitis" EXACT [] xref: EFO:0007306 xref: ICD10CM:B08.5 xref: ICD9CM:074.0 xref: MESH:D006557 is_a: DOID:10456 ! tonsillitis is_a: DOID:403 ! mouth disease is_a: DOID:9000220 ! Coxsackievirus Infections is_a: DOID:9006823 ! Echovirus Infections [Term] id: DOID:10887 name: lepromatous leprosy def: "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. (DO)" [https://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext "DO"] synonym: "cutaneous leprosies" EXACT [] synonym: "Cutaneous Leprosy" EXACT [] synonym: "lepromatous leprosies" EXACT [] synonym: "nodular leprosies" EXACT [] synonym: "nodular leprosy" EXACT [] synonym: "type L leprosy" EXACT [] xref: EFO:0001057 xref: ICD10CM:A30.5 xref: ICD9CM:030.0 xref: MESH:D015440 is_a: DOID:1024 ! leprosy [Term] id: DOID:1089 name: tethered spinal cord syndrome synonym: "occult spinal dysraphism" EXACT [] synonym: "occult spinal dysraphisms" EXACT [] synonym: "occult spinal dysraphism sequence" EXACT [] synonym: "tethered cord syndrome" EXACT [] synonym: "tethered cord syndromes" EXACT [] xref: EFO:1001210 xref: GARD:4018 xref: NCI:C99080 is_a: DOID:0080073 ! spina bifida occulta is_a: DOID:225 ! syndrome is_a: DOID:319 ! spinal cord disease created_by: rgd creation_date: 2017-12-11T00:00:00Z [Term] id: DOID:10892 name: hypospadias def: "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. (DO)" [http://en.wikipedia.org/wiki/Hypospadias "DO", http://ghr.nlm.nih.gov/glossary=hypospadias "DO"] synonym: "familial hypospadias" EXACT [] synonym: "hypospadia" EXACT [] xref: EFO:0004209 xref: ICD10CM:Q54 xref: MESH:D007021 xref: MIM:PS300633 xref: NCI:C40341 xref: ORDO:440 is_a: DOID:0080015 ! physical disorder is_a: DOID:1529 ! penile disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:10907 name: microcephaly def: "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)" [https://en.wikipedia.org/wiki/Microcephaly "DO"] synonym: "Classical primary microcephaly" NARROW [] synonym: "Congenital microcephaly" EXACT [] synonym: "Microcephalies" EXACT [] synonym: "microcephalus" EXACT [] synonym: "microencephaly" EXACT [] synonym: "PRIMARY MICROCEPHALY, RECESSIVE" NARROW [] synonym: "PROGRESSIVE MICROCEPHALY" NARROW [] synonym: "Severe Congenital Microcephalies" EXACT [] synonym: "Severe Congenital Microcephaly" EXACT [] xref: GARD:3603 xref: GARD:7038 xref: ICD10CM:Q02 xref: ICD9CM:742.1 xref: MESH:D008831 xref: NCI:C85874 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9005611 ! Malformations of Cortical Development, Group I is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:10908 name: hydrocephalus alt_id: MIM:236600 alt_id: MIM:236635 def: "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. (DO)" [http://en.wikipedia.org/wiki/Hydrocephalus "DO", http://ghr.nlm.nih.gov/glossary=hydrocephalus "DO", http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956 "DO"] synonym: "aqueductal stenoses" EXACT [] synonym: "aqueductal stenosis" EXACT [] synonym: "CCDC88C-RELATED CONDITION" BROAD [] synonym: "cerebral ventriculomegalies" EXACT [] synonym: "Cerebral Ventriculomegaly" EXACT [] synonym: "Congenital Hydrocephalus" EXACT [] synonym: "fetal cerebral ventriculomegalies" EXACT [] synonym: "fetal cerebral ventriculomegaly" EXACT [] synonym: "HYC1" EXACT [] synonym: "hydrocephalus ex vacuo" EXACT [] synonym: "hydrocephalus ex-vacuos" EXACT [] synonym: "hydrocephalus, X-linked" EXACT [] synonym: "hydrocephaly" EXACT [] synonym: "nonsyndromic hydrocephalus, autosomal recessive" EXACT [OMIM:236600] synonym: "nonsyndromic hydrocephalus, autosomal recessive 1" EXACT [] synonym: "post traumatic hydrocephalus" EXACT [] synonym: "SEVERE HYDROCEPHALUS" NARROW [] synonym: "ventriculomegaly" EXACT [] xref: GARD:6682 xref: ICD10CM:G91 xref: MESH:D006849 xref: MIM:PS236600 xref: NCI:C3111 xref: NCI:C98876 xref: ORDO:2182 xref: ORDO:2185 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:1091 name: tooth disease def: "A mouth disease located_in the teeth. (DO)" [https://medlineplus.gov/toothdisorders.html "DO"] synonym: "teeth disease" EXACT [] synonym: "tooth diseases" EXACT [] xref: EFO:1001216 xref: MESH:D014076 xref: MONDO:0006999 is_a: DOID:403 ! mouth disease is_a: DOID:9001349 ! Stomatognathic Diseases [Term] id: DOID:10913 name: benign essential hypertension xref: ICD9CM:401.1 xref: NCI:C3656 is_a: DOID:10825 ! essential hypertension created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10914 name: amnestic disorder def: "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO", http://www.minddisorders.com/A-Br/Amnestic-disorders.html "DO"] synonym: "amnesia" EXACT [] synonym: "Amnesia Memory Loss" EXACT [] synonym: "amnesias" EXACT [] synonym: "Amnestic State" EXACT [] synonym: "amnestic states" EXACT [] synonym: "amnestic syndrome" EXACT [] synonym: "Global Amnesia" EXACT [] synonym: "global amnesias" EXACT [] synonym: "Hysterical Amnesia" EXACT [] synonym: "Hysterical Amnesias" EXACT [] synonym: "Korsakoff's psychosis or syndrome" EXACT [] synonym: "Tactile Amnesia" EXACT [] synonym: "Tactile Amnesias" EXACT [] synonym: "temporary amnesia" EXACT [] synonym: "temporary amnesias" EXACT [] xref: EFO:1001454 xref: ICD10CM:R41.3 xref: ICD9CM:294.0 xref: MESH:D000647 xref: NCI:C2867 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9008023 ! Memory Disorders [Term] id: DOID:10915 name: Wernicke-Korsakoff syndrome alt_id: MIM:277730 def: "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. (DO)" [https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome "DO"] synonym: "ALCOHOL-INDUCED ENCEPHALOPATHY" EXACT [] synonym: "Korsakoff's psychosis" EXACT [] synonym: "Korsakoff's syndrome" EXACT [] synonym: "Korsakoff psychoses" EXACT [] synonym: "Korsakoff Psychosis" EXACT [] synonym: "Korsakoff syndrome" EXACT [] synonym: "Korsakov's psychosis" EXACT [] synonym: "Korsakov psychosis" EXACT [] synonym: "transketolase defect" EXACT [] synonym: "Wernicke-Korsakoff syndromes" EXACT [] xref: EFO:1001242 xref: MESH:D020915 xref: NCI:C35764 xref: NCI:C84803 is_a: DOID:0070313 ! thiamine deficiency disease is_a: DOID:9008023 ! Memory Disorders is_a: DOID:9008602 ! Alcohol Amnestic Disorder [Term] id: DOID:10921 name: Siberian tick typhus def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "manchurian typhus" EXACT [] synonym: "North Asian tick fever" EXACT [] synonym: "North Asian tick typhus" EXACT [] synonym: "Rickettsia sibirica spotted fever" EXACT [] xref: ICD10CM:A77.2 xref: ICD9CM:082.2 xref: MESH:D000073605 is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:10923 name: sickle cell anemia def: "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. (DO)" [https://en.wikipedia.org/wiki/Sickle_cell_disease "DO", https://ghr.nlm.nih.gov/condition/sickle-cell-disease "DO", https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease "DO"] synonym: "drepanocytosis" EXACT [] synonym: "HbS disease" EXACT [] synonym: "HbSS disease" EXACT [] synonym: "Hb-SS disease without crisis" EXACT [] synonym: "hemoglobi Korle-Bu" RELATED [] synonym: "hemoglobin Chori" RELATED [] synonym: "hemoglobin D (Iran)" RELATED [] synonym: "hemoglobin Quebec-Chori" RELATED [] synonym: "hemoglobin Rockford" RELATED [] synonym: "hemoglobin S disease" EXACT [] synonym: "hemoglobin S diseases" EXACT [] synonym: "hemoglobin S disease without crisis" EXACT [] synonym: "homozygous sickle cell disease" EXACT [] synonym: "sickle-cell/Hb-C disease without crisis" EXACT [] synonym: "sickle cell anaemia" EXACT [] synonym: "sickle cell anemias" EXACT [] synonym: "sickling disorder due to hemoglobin S" EXACT [] xref: EFO:0000697 xref: GARD:8614 xref: MESH:D000755 xref: MONDO:0011382 xref: NCI:C34383 xref: ORDO:232 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081445 ! sickle cell disease [Term] id: DOID:10927 name: gastrojejunal ulcer synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage AND perforation" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with perforation" EXACT [] synonym: "acute gastrojejunal ulcer with perforation AND obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [] synonym: "chronic gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] xref: ICD10CM:K28.0 xref: ICD9CM:534.0 is_a: DOID:750 ! peptic ulcer disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10930 name: borderline personality disorder def: "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. (DO)" [http://en.wikipedia.org/wiki/Borderline_personality_disorder "DO"] synonym: "Borderline Personality Disorders" EXACT [] xref: EFO:0005429 xref: ICD10CM:F60.3 xref: ICD9CM:301.83 xref: MESH:D001883 xref: NCI:C92633 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10931 name: dependent personality disorder def: "A personality disorder that is characterized by a pervasive psychological dependence on other people. (DO)" [http://en.wikipedia.org/wiki/Dependent_personality_disorder "DO"] synonym: "dependent personality disorders" EXACT [] synonym: "passive dependent personality" EXACT [] xref: ICD10CM:F60.7 xref: ICD9CM:301.6 xref: MESH:D003859 xref: NCI:C92637 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10932 name: obsessive-compulsive personality disorder def: "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. (DO)" [http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder "DO"] synonym: "Anankastic personality disorder" RELATED [SNOMEDCT_2005_07_31:191762008] synonym: "compulsive personalities" EXACT [] synonym: "Compulsive Personality" EXACT [] synonym: "compulsive personality disorder" EXACT [] synonym: "Compulsive Personality Disorders" EXACT [] synonym: "obsessional personality" RELATED [] synonym: "Obsessive-Compulsive Personalities" EXACT [] synonym: "obsessive-compulsive personality" EXACT [] synonym: "OCPD" EXACT [] xref: ICD10CM:F60.5 xref: ICD9CM:301.4 xref: MESH:D003193 xref: NCI:C92638 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10933 name: obsessive-compulsive disorder def: "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). (DO)" [https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml "DO"] synonym: "anancastic neurosis" EXACT [] synonym: "anankastic personality" EXACT [] synonym: "obsessive-compulsive disorder, protection against" RELATED [] synonym: "obsessive-compulsive disorders" EXACT [] synonym: "obsessive-compulsive disorder, susceptibility to" RELATED [] synonym: "obsessive-compulsive neuroses" EXACT [] synonym: "obsessive-compulsive neurosis" EXACT [] synonym: "OCD" EXACT [] synonym: "SLC6A4-related condition" BROAD [] xref: EFO:0004242 xref: ICD10CM:F42 xref: ICD9CM:300.3 xref: MESH:D009771 xref: MIM:164230 xref: MONDO:0008114 xref: NCI:C88411 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:10934 name: multiple personality disorder def: "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. (DO)" [http://en.wikipedia.org/wiki/Dissociative_identity_disorder "DO"] synonym: "Dissociative Identity Disorder" EXACT [] synonym: "dual personalities" EXACT [] synonym: "Dual Personality" EXACT [] synonym: "Multiple Identity Disorder" EXACT [] synonym: "multiple identity disorders" EXACT [] synonym: "Multiple Personalities" EXACT [] synonym: "Multiple Personality" EXACT [] synonym: "Multiple Personality Disorders" EXACT [] xref: ICD10CM:F44.81 xref: ICD9CM:300.14 xref: MESH:D009105 xref: NCI:C94330 is_a: DOID:10935 ! dissociative disorder [Term] id: DOID:10935 name: dissociative disorder def: "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). (DO)" [https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215 "DO"] synonym: "dissociation" EXACT [] synonym: "dissociative disease" EXACT [] synonym: "dissociative disorders" EXACT [] synonym: "Dissociative Hysteria" EXACT [] synonym: "dissociative hysterias" EXACT [] synonym: "Dissociative Reaction" EXACT [] synonym: "dissociative reactions" EXACT [] synonym: "fugue" EXACT [] xref: ICD10CM:F44.9 xref: ICD9CM:300.15 xref: ICD9CM:300.9 xref: MESH:D004213 xref: NCI:C92197 is_a: DOID:150 ! disease of mental health [Term] id: DOID:10936 name: schizoid personality disorder def: "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. (DO)" [http://en.wikipedia.org/wiki/Schizoid_personality_disorder "DO"] synonym: "schizoid personalities" EXACT [] synonym: "Schizoid Personality" EXACT [] synonym: "schizoid personality disorders" EXACT [] xref: ICD10CM:F60.1 xref: ICD9CM:301.2 xref: MESH:D012557 xref: NCI:C92631 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10937 name: impulse control disorder def: "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. (DO)" [https://en.wikipedia.org/wiki/Impulse_control_disorder "DO"] synonym: "disruptive, impulse control, and conduct disorders" EXACT [] xref: ICD10CM:F63.9 xref: ICD9CM:312.30 xref: MESH:D007174 xref: MONDO:0001162 xref: NCI:C34723 is_a: DOID:150 ! disease of mental health [Term] id: DOID:10938 name: paranoid personality disorder def: "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. (DO)" [http://en.wikipedia.org/wiki/Paranoid_personality_disorder "DO"] synonym: "paranoid personalities" EXACT [] synonym: "paranoid personality" EXACT [] synonym: "paranoid personality disorders" EXACT [] xref: ICD10CM:F60.0 xref: ICD9CM:301.0 xref: MESH:D010260 xref: NCI:C92630 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10939 name: antisocial personality disorder def: "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. (DO)" [http://en.wikipedia.org/wiki/Antisocial_personality_disorder "DO"] synonym: "antisocial behavior" EXACT [] synonym: "Antisocial Behavior Following Childhood Maltreatment, Susceptibility To" EXACT [] synonym: "Antisocial Personalities" EXACT [] synonym: "Antisocial Personality" EXACT [] synonym: "Antisocial Personality Disorders" EXACT [] synonym: "asocial personality" EXACT [] synonym: "dissocial personality disorder" EXACT [] synonym: "Dyssocial Behavior" EXACT [] synonym: "Dyssocial Behaviors" EXACT [] synonym: "psychopath.personality" EXACT [] synonym: "Psychopathic Personalities" EXACT [] synonym: "Psychopathic Personality" EXACT [] synonym: "psychopathic personality disorder" EXACT [] synonym: "Sociopathic Personalities" EXACT [] synonym: "Sociopathic Personality" EXACT [] xref: EFO:0004890 xref: ICD10CM:F60.2 xref: ICD9CM:301.7 xref: MESH:D000987 xref: NCI:C88413 is_a: DOID:1510 ! personality disorder [Term] id: DOID:1094 name: attention deficit hyperactivity disorder def: "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. (DO)" [http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder "DO", https://www.genome.gov/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder "DO"] synonym: "ADHD" EXACT [] synonym: "ADHD1" RELATED [] synonym: "ADHD2" RELATED [] synonym: "ADHD3" RELATED [] synonym: "ADHD4" RELATED [] synonym: "ADHD5" RELATED [] synonym: "ADHD6" RELATED [] synonym: "attention deficit disorder" EXACT [] synonym: "attention deficit disorders" EXACT [] synonym: "attention deficit disorder with hyperactivity" EXACT [] synonym: "attention deficit hyperactivity disorders" EXACT [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 1" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 2" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 3" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 4" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 5" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 6" RELATED [] synonym: "DOPAMINE RECEPTOR D4 POLYMORPHISM" RELATED [] synonym: "DRD4-RELATED CONDITION" RELATED [] synonym: "DRD5-RELATED CONDITION" RELATED [] synonym: "hyperactivity disorder" NARROW [] synonym: "hyperactivity of childhood" EXACT [] synonym: "hyperkinetic disorder" EXACT [] synonym: "hyperkinetic syndrome" EXACT [] synonym: "minimal brain dysfunction" EXACT [] synonym: "tryptophan 5-monooxygenase deficiency" NARROW [] xref: EFO:0003888 xref: MESH:D001289 xref: MIM:143465 xref: MIM:608903 xref: MIM:608904 xref: MIM:608905 xref: MIM:608906 xref: MIM:612311 xref: MIM:612312 xref: MONDO:0007743 xref: NCI:C35092 xref: NCI:C97160 is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders [Term] id: DOID:10941 name: intracranial aneurysm def: "Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)" [MESH:D002532] synonym: "Anterior Cerebral Artery Aneurysm" EXACT [] synonym: "Anterior Communicating Artery Aneurysm" EXACT [] synonym: "Basilar Artery Aneurysm" EXACT [] synonym: "basilar artery aneurysms" EXACT [] synonym: "Berry Aneurysm" EXACT [] synonym: "Berry Aneurysms" EXACT [] synonym: "Brain Aneurysm" EXACT [] synonym: "Brain Aneurysms" EXACT [] synonym: "Cerebral Aneurysm" EXACT [] synonym: "Cerebral Aneurysms" EXACT [] synonym: "Giant Intracranial Aneurysm" EXACT [] synonym: "Giant Intracranial Aneurysms" EXACT [] synonym: "Intracranial Aneurysms" EXACT [] synonym: "Intracranial Mycotic Aneurysm" EXACT [] synonym: "Intracranial Mycotic Aneurysms" EXACT [] synonym: "Middle Cerebral Artery Aneurysm" EXACT [] synonym: "Posterior Cerebral Artery Aneurysm" EXACT [] synonym: "posterior communicating artery aneurysm" EXACT [] xref: EFO:0003870 xref: MESH:D002532 xref: NCI:C34458 is_a: DOID:13089 ! intracranial arterial disease is_a: DOID:3527 ! cerebral arterial disease is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:10944 name: tongue disease def: "A mouth disease located_in the tongue. (DO)" [https://medlineplus.gov/tonguedisorders.html "DO"] synonym: "microglossia" EXACT [] synonym: "microglossias" EXACT [] synonym: "tongue diseases" EXACT [] xref: ICD10CM:K14 xref: ICD9CM:529.9 xref: MESH:D014060 xref: MONDO:0001165 xref: NCI:C173793 is_a: DOID:403 ! mouth disease [Term] id: DOID:10952 name: nephritis def: "A kidney disease that is characterized by an inflammation of the kidneys. (DO)" [https://en.wikipedia.org/wiki/Nephritis "DO"] synonym: "nephritides" EXACT [] xref: EFO:1002050 xref: ICD10CM:N05 xref: MESH:D009393 xref: NCI:C26833 is_a: DOID:557 ! kidney disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:10955 name: strongyloidiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. (DO)" [http://en.wikipedia.org/wiki/Strongyloidiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm "DO"] synonym: "anguilluliases" EXACT [] synonym: "anguilluliasis" EXACT [] synonym: "disseminated strongyloidiasis" EXACT [] synonym: "infection by strongyloides" EXACT [] synonym: "strongyloidiases" EXACT [] xref: EFO:0007501 xref: GARD:8195 xref: ICD10CM:B78 xref: ICD9CM:127.2 xref: MESH:D013322 xref: NCI:C128398 is_a: DOID:9000928 ! Central Nervous System Helminthiasis is_a: DOID:9001455 ! Intestinal Helminthiasis is_a: DOID:9003369 ! Strongylida Infections is_a: DOID:9003947 ! Parasitic Lung Diseases is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:10963 name: cholesteatoma of attic xref: EFO:1000676 xref: ICD10CM:H71.0 xref: ICD9CM:385.31 xref: RDO:9003800 is_a: DOID:10964 ! cholesteatoma of middle ear created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10964 name: cholesteatoma of middle ear def: "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR." [MESH:D018424] synonym: "aural cholesteatoma" EXACT [] synonym: "aural cholesteatomas" EXACT [] synonym: "cholesteatoma of middle ear and/or mastoid" EXACT [] synonym: "cholesteatoma of middle ear and mastoid" EXACT [] synonym: "cholesteatoma of the middle ear" EXACT [] synonym: "epidermosis of ear" EXACT [] synonym: "epidermosis of middle ear" EXACT [] synonym: "middle ear cholesteatoma" EXACT [] synonym: "middle ear cholesteatomas" EXACT [] xref: EFO:1000678 xref: ICD10CM:H71 xref: ICD9CM:385.3 xref: ICD9CM:385.32 xref: MESH:D018424 xref: NCI:C3654 is_a: DOID:5100 ! middle ear disease is_a: DOID:869 ! cholesteatoma [Term] id: DOID:10965 name: spastic diplegia def: "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. (DO)" [https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy "DO"] synonym: "cerebral spastic infantile paralysis" EXACT [] synonym: "infantile diplegic cerebral palsy" EXACT [] synonym: "infantile spastic cerebral palsy" EXACT [] synonym: "Little's disease" EXACT [] synonym: "Littles disease" EXACT [] synonym: "spastic diplegias" EXACT [] synonym: "spastic diplegic cerebral palsy" EXACT [] xref: ICD10CM:G80.1 xref: ICD9CM:343.0 xref: NCI:C34781 is_a: DOID:0050669 ! spastic cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10966 name: lipoid nephrosis def: "A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." [MESH:D009402] synonym: "Glomerulopathies, Minimal Change" EXACT [] synonym: "Idiopathic Minimal Change Nephrotic Syndrome" EXACT [] synonym: "Lipoid Nephroses" EXACT [] synonym: "Minimal Change Disease" EXACT [] synonym: "Minimal Change Diseases" EXACT [] synonym: "Minimal Change Glomerulonephritides" EXACT [] synonym: "Minimal Change Glomerulonephritis" EXACT [] synonym: "Minimal Change Glomerulopathy" EXACT [] synonym: "Minimal Change Nephropathies" EXACT [] synonym: "Minimal Change Nephropathy" EXACT [] synonym: "Minimal Change Nephrotic Syndrome" EXACT [] synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [] synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [] xref: EFO:1001020 xref: MESH:D009402 xref: NCI:C34844 xref: NCI:C35540 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:2527 ! nephrosis is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:10967 name: spastic hemiplegia def: "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. (DO)" [https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/ "DO"] synonym: "congenital hemiplegia" EXACT [] synonym: "hemiplegic cerebral palsy" EXACT [] synonym: "hemiplegic infantile cerebral palsy" EXACT [] synonym: "spastic hemiplegic cerebral palsy" EXACT [] xref: GARD:10448 xref: ICD9CM:343.1 is_a: DOID:0050669 ! spastic cerebral palsy is_a: DOID:10969 ! hemiplegia created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10968 name: spastic monoplegia def: "A spastic cerebral palsy that affects only one limb. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO"] synonym: "monoplegic cerebral palsies" EXACT [] synonym: "monoplegic cerebral palsy" EXACT [] synonym: "monoplegic infantile cerebral palsy" EXACT [] synonym: "spastic monoplegic cerebral palsy" EXACT [] xref: GARD:10446 xref: ICD9CM:343.3 is_a: DOID:0050669 ! spastic cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10969 name: hemiplegia def: "A central nervous system disease that is characterized by the complete paralysis of half of the body. (DO)" [https://en.wikipedia.org/wiki/Hemiparesis "DO"] synonym: "crossed hemiplegia" EXACT [] synonym: "crossed hemiplegias" EXACT [] synonym: "Flaccid Hemiplegia" EXACT [] synonym: "flaccid hemiplegias" EXACT [] synonym: "HEMIPLEGIA/HEMIPARESIS" BROAD [] synonym: "Hemiplegias" EXACT [] synonym: "Infantile Hemiplegia" EXACT [] synonym: "Infantile Hemiplegias" EXACT [] synonym: "Monoplegia" EXACT [] synonym: "Monoplegias" EXACT [] synonym: "Post-Ictal Hemiplegia" EXACT [] synonym: "post-ictal hemiplegias" EXACT [] synonym: "postnatal infantile hemiplegia" EXACT [] synonym: "transient hemiplegia" EXACT [] synonym: "transient hemiplegias" EXACT [] xref: EFO:0009453 xref: GARD:6583 xref: ICD9CM:343.4 xref: MESH:D006429 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:10970 name: spastic quadriplegic cerebral palsy def: "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. (DO)" [https://cerebralpalsygroup.com/cerebral-palsy/spastic/ "DO"] synonym: "inherited congenital spastic quadriplegia" EXACT [] synonym: "inherited congenital spastic tetraplegia" EXACT [] synonym: "quadriplegic infantile cerebral palsy" EXACT [] synonym: "spastic quadriplegia" EXACT [] synonym: "tetraplegic infantile cerebral palsy" EXACT [] xref: GARD:10447 xref: ICD9CM:343.2 xref: MIM:PS612900 xref: ORDO:210141 is_a: DOID:0050669 ! spastic cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10971 name: acute salpingo-oophoritis synonym: "acute salpingitis and oophoritis" EXACT [] xref: ICD10CM:N70.03 xref: ICD9CM:614.0 is_a: DOID:10972 ! salpingo-oophoritis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10972 name: salpingo-oophoritis synonym: "salpingitis/oophoritis" EXACT [] synonym: "tubo-ovarian inflammatory disease" EXACT [] xref: ICD10CM:N70 xref: ICD9CM:614.2 xref: NCI:C171201 is_a: DOID:10974 ! oophoritis is_a: DOID:5733 ! salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10973 name: acute salpingitis xref: ICD10CM:N70.01 xref: MONDO:0001173 xref: NCI:C40120 is_a: DOID:5733 ! salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10974 name: oophoritis def: "An ovarian disease that is characterized by inflammation of the ovary. (DO)" [https://en.wikipedia.org/wiki/Oophoritis "DO"] synonym: "oophoritides" EXACT [] xref: EFO:1001071 xref: ICD10CM:N70.92 xref: MESH:D009869 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:1100 ! ovarian disease [Term] id: DOID:10976 name: membranous glomerulonephritis alt_id: MIM:614692 def: "A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." [MESH:D015433] synonym: "CONGENITAL MEMBRANOUS NEPHROPATHY DUE TO FETOMATERNAL ANTI-NEUTRAL ENDOPEPTIDASE ALLOIMMUNIZATION" EXACT [] synonym: "Extramembranous Glomerulopathy" EXACT [] synonym: "Heymann Nephritis" EXACT [] synonym: "idiopathic membranous glomerulonephritides" EXACT [] synonym: "Idiopathic Membranous Glomerulonephritis" EXACT [] synonym: "Idiopathic Membranous Nephropathy" EXACT [] synonym: "MBNP" EXACT [] synonym: "Membranous Glomerulonephritides" EXACT [] synonym: "Membranous Glomerulonephropathy" EXACT [] synonym: "membranous glomerulopathy" EXACT [] synonym: "membranous nephropathy" EXACT [] synonym: "membranous nephropathy, susceptibility to" RELATED [] xref: EFO:0004254 xref: ICD10CM:N03.2 xref: MESH:D015433 xref: NCI:C34645 is_a: DOID:2921 ! glomerulonephritis is_a: DOID:417 ! autoimmune disease [Term] id: DOID:1098 name: hemolytic disease of the fetus def: "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK557423/ "DO"] synonym: "alloimmune HDFN" EXACT [] synonym: "BLOOD GROUP--KIDD SYSTEM" RELATED [] synonym: "EF - erythroblastosis foetalis" EXACT [] synonym: "Erythroblastosis Fetali" EXACT [] synonym: "Erythroblastosis Fetalis" EXACT [] synonym: "fetal erythroblastosis" EXACT [] synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [] synonym: "hemolytic disease of newborn" EXACT [] synonym: "hemolytic disease of the fetus and newborn" EXACT [] synonym: "KELL K/K BLOOD GROUP POLYMORPHISM" RELATED [] synonym: "newborn hemolytic disease" EXACT [] synonym: "newborn hemolytic diseases" EXACT [] synonym: "Radin blood group" RELATED [] synonym: "rhesus isoimmunisation of the newborn" EXACT [] xref: EFO:1000937 xref: ICD10CM:P55 xref: ICD9CM:773 xref: MESH:D004899 xref: MONDO:0006760 xref: NCI:C101304 is_a: DOID:11252 ! microcytic anemia is_a: DOID:2914 ! immune system disease is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:10983 name: Alport syndrome def: "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. (DO)" [http://en.wikipedia.org/wiki/Alport_syndrome "DO"] synonym: "Alport's syndrome" EXACT [] synonym: "congenital hereditary hematuria" EXACT [] synonym: "DISEASE OF GLOMERULAR BASEMENT MEMBRANE" EXACT [] synonym: "familial nephritis" EXACT [] synonym: "hematuria nephropathy deafness syndrome" EXACT [] synonym: "Hematuric Hereditary Nephritis" EXACT [] synonym: "Hemorrhagic Familial Nephritis" EXACT [] synonym: "hemorrhagic hereditary nephritis" EXACT [] synonym: "hereditary familial congenital hemorrhagic nephritis" EXACT [] synonym: "hereditary hematuria syndrome" EXACT [] synonym: "hereditary interstitial pyelonephritis" EXACT [] synonym: "hereditary nephritis" BROAD [] xref: EFO:0004128 xref: GARD:5785 xref: MESH:D009394 xref: MIM:PS301050 xref: NCI:C34842 xref: ORDO:63 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10952 ! nephritis is_a: DOID:225 ! syndrome is_a: DOID:854 ! collagen disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:10986 name: discitis def: "A cartilage disease that is characterized by an infection of the intervertebral disc space. (DO)" [https://medlineplus.gov/ency/article/000993.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK541047 "DO"] synonym: "diskitis" EXACT [1] synonym: "spondylodiscitis" EXACT [1] synonym: "spondylodiskitis" EXACT [1] xref: EFO:1000900 xref: ICD10CM:M46.4 xref: MESH:D015299 xref: MONDO:8000000 is_a: DOID:1222 ! cartilage disease is_a: DOID:6590 ! spondylitis [Term] id: DOID:10989 name: conjunctival vascular disease synonym: "Conjunctival vascular abnormality" EXACT [SNOMEDCT_2005_07_31:193900004] synonym: "vascular abnormalities of conjunctiva" EXACT [ICD9CM_2006:372.74] xref: ICD10CM:H11.41 xref: ICD9CM:372.74 xref: NCI:C35116 xref: RDO:9003824 is_a: DOID:4251 ! conjunctival disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1099 name: alpha thalassemia def: "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. (DO)" [http://en.wikipedia.org/wiki/Alpha_Thalassemia "DO"] synonym: "alpha thalassaemia" EXACT [] synonym: "alpha-thalassemia and related diseases" EXACT [] synonym: "ALPHA-THALASSEMIA, HMONG TYPE" NARROW [] synonym: "alpha-Thalassemias" EXACT [] synonym: "ALPHA-THALASSEMIA, ZF TYPE" NARROW [] synonym: "A-Thalassemia" EXACT [] synonym: "HEMOGLOBIN CHAROLLES" RELATED [] synonym: "Hemoglobin Constant Spring" RELATED [] synonym: "HEMOGLOBIN KENITRA" RELATED [] synonym: "HEMOGLOBIN KOYA DORA" RELATED [] synonym: "hemoglobin Manukau" RELATED [] synonym: "hemoglobin New York" RELATED [] synonym: "hemoglobin Petah Tikva" RELATED [] synonym: "hemoglobin Prato" RELATED [] synonym: "hemoglobin Quong Sze" RELATED [] xref: GARD:621 xref: ICD9CM:282.43 xref: MESH:D017085 xref: MIM:604131 xref: NCI:C34368 is_a: DOID:10241 ! thalassemia [Term] id: DOID:10991 name: basal ganglia cerebrovascular disease def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS)." [MESH:D020144] synonym: "Basal Ganglia Vascular Disease" EXACT [] synonym: "basal ganglia vascular diseases" EXACT [] synonym: "Lenticulostriate Vascular Disease" EXACT [] synonym: "Lenticulostriate Vascular Diseases" EXACT [] synonym: "Lenticulostriate Vasculopathies" EXACT [] synonym: "Lenticulostriate Vasculopathy" EXACT [] xref: EFO:1000640 xref: MESH:D020144 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:10992 name: acute hemorrhagic leukoencephalitis def: "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. (DO)" [http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis "DO"] synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [] synonym: "acute hemorrhagic encephalomyelitis" EXACT [] synonym: "acute necrotizing hemorrhagic encephalomyelitis" EXACT [] synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [] synonym: "AHL" EXACT [] synonym: "Hemorrhagic Necrotizing Encephalomyelitis" EXACT [] synonym: "Hurst's disease" EXACT [] synonym: "Hurst disease" EXACT [] synonym: "Hurst syndrome" EXACT [] synonym: "subacute hemorrhagic leukoencephalitis" EXACT [] synonym: "Weston-Hurst syndrome" EXACT [] xref: EFO:0007132 xref: GARD:8629 xref: MESH:D004684 xref: MIM:606752 xref: MONDO:0011716 xref: NCI:C84535 is_a: DOID:639 ! acute disseminated encephalomyelitis is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS [Term] id: DOID:10993 name: postinfectious encephalitis def: "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. (DO)" [https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136 "DO"] synonym: "postinfective encephalitis" EXACT [] synonym: "secondary encephalitis" EXACT [] xref: MONDO:0020068 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9588 ! encephalitis created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:10997 name: immature cataract def: "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] synonym: "incipient cataract" EXACT [] synonym: "incipient senile cataract" EXACT [] synonym: "water clefts" EXACT [] xref: ICD10CM:H25.09 xref: RDO:9004348 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:110 name: lens disease def: "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. (DO)" [https://en.wikipedia.org/wiki/Lens_(anatomy) "DO"] synonym: "lens diseases" EXACT [] xref: EFO:0009674 xref: ICD10CM:H27.9 xref: MESH:D007905 xref: NCI:C26812 is_a: DOID:5614 ! eye disease [Term] id: DOID:1100 name: ovarian disease def: "A female reproductive system disease that is located_in the ovary. (DO)" [https://medlineplus.gov/ovariandisorders.html "DO"] synonym: "ovarian diseases" EXACT [] xref: EFO:0005771 xref: MESH:D010049 xref: NCI:C26841 is_a: DOID:2277 ! gonadal disease is_a: DOID:9003261 ! Adnexal Diseases [Term] id: DOID:11014 name: anorectal stricture synonym: "stenosis of rectum and anus" EXACT [] xref: ICD10CM:K62.4 is_a: DOID:3128 ! anus disease is_a: DOID:9001471 ! Anorectal Malformations [Term] id: DOID:11028 name: pseudopterygium xref: ICD9CM:372.52 is_a: DOID:10124 ! corneal disease is_a: DOID:10139 ! conjunctival degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11029 name: pinguecula def: "A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." [MESH:D059407] synonym: "Pingueculas" EXACT [] xref: EFO:1001824 xref: ICD10CM:H11.15 xref: ICD9CM:372.51 xref: MESH:D059407 xref: NCI:C129468 is_a: DOID:10139 ! conjunctival degeneration is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:11030 name: corneal edema def: "An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." [MESH:D015715] synonym: "corneal edemas" EXACT [] synonym: "corneal oedema" EXACT [] xref: EFO:1000879 xref: ICD10CM:H18.20 xref: ICD9CM:371.2 xref: MESH:D015715 xref: NCI:C50508 is_a: DOID:10124 ! corneal disease [Term] id: DOID:11031 name: bullous keratopathy def: "A blister-like swelling of the cornea." [] xref: ICD10CM:H18.1 xref: ICD9CM:371.23 xref: NCI:C26970 is_a: DOID:11030 ! corneal edema is_a: DOID:2283 ! keratopathy [Term] id: DOID:11032 name: secondary corneal edema xref: ICD10CM:H18.23 xref: ICD9CM:371.22 xref: MONDO:0001181 is_a: DOID:11030 ! corneal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11033 name: idiopathic corneal edema xref: ICD10CM:H18.22 xref: ICD9CM:371.21 xref: RDO:9004443 is_a: DOID:11030 ! corneal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11034 name: contact lens corneal edema def: "Corneal edema due to wearing of contact lenses. (ICD-9)" [] xref: ICD9CM:371.24 is_a: DOID:11030 ! corneal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11036 name: chronic rapidly progressive glomerulonephritis synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [] xref: ICD9CM:582.4 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11037 name: dissociative amnesia def: "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. (DO)" [https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia "DO"] synonym: "dissociative amnesias" EXACT [] synonym: "psychogenic amnesia" EXACT [] xref: ICD10CM:F44.0 xref: ICD9CM:300.12 xref: NCI:C94328 is_a: DOID:10914 ! amnestic disorder is_a: DOID:10935 ! dissociative disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11038 name: depersonalization disorder def: "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. (DO)" [http://en.wikipedia.org/wiki/Depersonalization_disorder "DO"] synonym: "neurotic derealization" EXACT [] xref: GARD:6260 xref: ICD9CM:300.6 xref: MESH:D003861 xref: NCI:C94331 is_a: DOID:10935 ! dissociative disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11042 name: Felty's syndrome def: "An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia. (DO)" [http://en.wikipedia.org/wiki/Felty%27s_syndrome "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm "DO"] synonym: "familial Felty's syndrome" NARROW [] synonym: "familial Felty syndrome" NARROW [] synonym: "Feltys Syndrome" EXACT [] synonym: "Felty syndrome" EXACT [] synonym: "rheumatoid arthritis, splenomegaly and neutropenia" EXACT [] synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [] xref: EFO:0007269 xref: GARD:8234 xref: ICD10CM:M05.0 xref: ICD9CM:714.1 xref: MESH:D005258 xref: MIM:134750 xref: MONDO:0007603 xref: NCI:C84712 is_a: DOID:1227 ! neutropenia is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:7148 ! rheumatoid arthritis is_a: DOID:9002720 ! Splenomegaly [Term] id: DOID:11044 name: gastroschisis def: "A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." [MESH:D020139] synonym: "congenital fissure of the abdominal cavity" EXACT [] synonym: "gastroschises" EXACT [] xref: EFO:1000949 xref: GARD:8661 xref: ICD10CM:Q79.3 xref: ICD9CM:756.73 xref: MESH:D020139 xref: MIM:230750 xref: MONDO:0009264 xref: NCI:C84725 is_a: DOID:0080015 ! physical disorder is_a: DOID:9004681 ! Abdominal Hernia is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:11049 name: meconium aspiration syndrome def: "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. (DO)" [PMID:27206687 "DO"] synonym: "meconium aspiration" EXACT [] synonym: "meconium inhalation" EXACT [] synonym: "neonatal aspiration of meconium" EXACT [] xref: EFO:1001037 xref: GARD:10494 xref: ICD10CM:P24.0 xref: ICD10CM:P24.00 xref: ICD10CM:P24.01 xref: MESH:D008471 xref: NCI:C87093 is_a: DOID:225 ! syndrome is_a: DOID:9000310 ! Lung Injury is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:11054 name: urinary bladder cancer alt_id: MIM:109800 def: "An urinary system cancer that results_in malignant growth located_in the urinary bladder. (DO)" [http://en.wikipedia.org/wiki/Bladder_cancer "DO"] synonym: "bladder cancer" EXACT [] synonym: "bladder cancers" EXACT [] synonym: "BLADDER CANCER, TRANSITIONAL CELL, SOMATIC" NARROW [] synonym: "cancer of bladder" EXACT [] synonym: "cancer of the bladder" EXACT [] synonym: "malignant tumor of urinary bladder" EXACT [] synonym: "tumor of the bladder" EXACT [] xref: GARD:12210 xref: ICD10CM:C67 xref: ICD9CM:188 xref: MESH:D001749 xref: MONDO:0001187 xref: NCI:C2901 xref: NCI:C9334 is_a: DOID:3996 ! urinary system cancer is_a: DOID:9009116 ! Urinary Bladder Neoplasm [Term] id: DOID:11055 name: pasteurellosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. (DO)" [http://en.wikipedia.org/wiki/Pasteurellosis "DO"] synonym: "pasteurella infection" EXACT [] synonym: "pasteurella infections" EXACT [] synonym: "pasteurella infectious disease" EXACT [] synonym: "pasteurelloses" EXACT [] xref: EFO:0007424 xref: ICD10CM:A28.0 xref: ICD9CM:027.2 xref: MESH:D010326 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008746 ! Pasteurellaceae Infections [Term] id: DOID:1106 name: esophagus lymphoma synonym: "lymphoma of esophagus" EXACT [] synonym: "lymphoma of oesophagus" EXACT [] synonym: "oesophagus lymphoma" EXACT [] xref: NCI:C5687 is_a: DOID:0060058 ! lymphoma is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:11060 name: placenta praevia def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. (DO)" [http://en.wikipedia.org/wiki/Placenta_previa "DO"] synonym: "placenta previa" EXACT [] xref: EFO:0007442 xref: ICD10CM:O44 xref: MESH:D010923 xref: NCI:C26858 is_a: DOID:780 ! placenta disease is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:1107 name: esophageal carcinoma def: "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Esophageal_cancer "DO"] synonym: "cancer of esophagus" EXACT [] synonym: "cancer of oesophagus" EXACT [] synonym: "carcinoma of esophagus" EXACT [] synonym: "carcinoma of oesophagus" EXACT [] synonym: "esophageal carcinoma, somatic" EXACT [] xref: EFO:0002916 xref: NCI:C3513 xref: ORDO:70482 is_a: DOID:305 ! carcinoma is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:11076 name: Brucella suis brucellosis def: "A brucellosis that involves an infection caused by Brucella suis in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. (DO)" [http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm "DO"] is_a: DOID:11077 ! brucellosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11077 name: brucellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO"] synonym: "brucelloses" EXACT [] synonym: "Cyprus fever" EXACT [] synonym: "Cyprus fevers" EXACT [] synonym: "Gibraltar fever" RELATED [] synonym: "Malta fever" EXACT [] synonym: "Maltese fever" EXACT [] synonym: "Mediterranean fever" RELATED [] synonym: "pulmonary brucelloses" EXACT [] synonym: "pulmonary brucellosis" EXACT [] synonym: "rock fever" EXACT [] synonym: "rock fevers" EXACT [] synonym: "undulant fever" EXACT [] xref: EFO:0007185 xref: GARD:5966 xref: ICD10CM:A23 xref: ICD9CM:023 xref: MESH:D002006 xref: NCI:C84602 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:11079 name: leech infestation def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. (DO)" [http://en.wikipedia.org/wiki/Leech "DO", http://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057 "DO"] synonym: "hirudiniasis" EXACT [] synonym: "leeches" EXACT [] xref: ICD10CM:B88.3 xref: ICD9CM:134.2 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:1108 name: esophagus melanoma synonym: "esophageal melanoma" EXACT [] synonym: "melanoma of esophagus" EXACT [] synonym: "melanoma of oesophagus" EXACT [] synonym: "oesophagus melanoma" EXACT [] xref: MONDO:0001192 xref: NCI:C5707 is_a: DOID:1909 ! melanoma is_a: DOID:5784 ! esophageal neuroendocrine tumor created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:11080 name: myiasis def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. (DO)" [http://en.wikipedia.org/wiki/Myiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] synonym: "infestation by fly larvae" EXACT [] synonym: "infestation by maggots" EXACT [] synonym: "Maggot Infestation" EXACT [] synonym: "Maggot Infestations" EXACT [] synonym: "Myiases" EXACT [] xref: EFO:0007389 xref: ICD10CM:B87 xref: ICD9CM:134.0 xref: MESH:D009198 xref: NCI:C128400 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:11086 name: chorioretinal scar xref: ICD10CM:H31.0 xref: ICD9CM:363.3 is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11088 name: asphyxia neonatorum def: "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. (DO)" [https://en.wikipedia.org/wiki/Perinatal_asphyxia "DO"] synonym: "asphyxia in liveborn infant" EXACT [] synonym: "birth asphyxia" EXACT [] synonym: "postnatal asphyxia" EXACT [] xref: EFO:1000824 xref: GARD:5857 xref: ICD10CM:P84 xref: ICD9CM:768.9 xref: MESH:D001238 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9001041 ! Asphyxia is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:11100 name: Q fever def: "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. (DO)" [http://en.wikipedia.org/wiki/Q_fever "DO", http://www.cdc.gov/qfever/symptoms/index.html "DO", PMID:15021054 "DO"] synonym: "Acute Q Fever" EXACT [] synonym: "Acute Q Fevers" EXACT [] synonym: "Chronic Q Fever" EXACT [] synonym: "Chronic Q Fevers" EXACT [] synonym: "Coxiella burnetii Fever" EXACT [] synonym: "Coxiella burnetii Fevers" EXACT [] synonym: "Coxiella burnetii Infection" EXACT [] synonym: "Coxiella burnetii Infections" EXACT [] synonym: "Coxiella burnetii Vector Borne Disease" EXACT [] synonym: "infection due to Coxiella burnetii" EXACT [] synonym: "Q Fevers" EXACT [] synonym: "Query Fever" EXACT [] synonym: "Query Fevers" EXACT [] xref: EFO:0005224 xref: GARD:7515 xref: ICD10CM:A78 xref: ICD9CM:083.0 xref: MESH:D011778 xref: NCI:C34970 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:11101 name: trench fever def: "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. (DO)" [http://en.wikipedia.org/wiki/Trench_fever "DO"] synonym: "His-Werner disease" EXACT [] synonym: "Quintan fever" EXACT [] synonym: "shin bone fever" EXACT [] synonym: "tibialgic fever" EXACT [] synonym: "trench fevers" EXACT [] synonym: "Wolhynian fever" EXACT [] xref: EFO:0007519 xref: ICD10CM:A79.0 xref: ICD9CM:083.1 xref: MESH:D014205 is_a: DOID:11102 ! bartonellosis [Term] id: DOID:11102 name: bartonellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. (DO)" [https://en.wikipedia.org/wiki/Bartonellosis "DO"] synonym: "Bartonella Infection" EXACT [] synonym: "Bartonella infections" EXACT [] synonym: "Bartonella infectious disease" EXACT [] synonym: "bartonelliasis" EXACT [] synonym: "bartonelloses" EXACT [] synonym: "Rochalimaea infection" EXACT [] synonym: "Rochalimaea infections" EXACT [] synonym: "verruga peruana" EXACT [] xref: EFO:0007166 xref: ICD10CM:A44 xref: ICD9CM:088.0 xref: MESH:D001474 xref: NCI:C84586 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003175 ! Bartonellaceae Infections [Term] id: DOID:11103 name: rickettsialpox def: "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia akari spotted fever" EXACT [] synonym: "Vesicular rickettsiosis" EXACT [] xref: ICD10CM:A79.1 xref: ICD9CM:083.2 xref: MONDO:0019360 is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11104 name: spotted fever def: "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "spotted fever group rickettsial disease" EXACT [] xref: EFO:1002047 xref: GARD:4998 xref: ICD10CM:A77.9 xref: ICD9CM:082.0 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9007347 ! Rickettsia Infections created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:11105 name: fundus albipunctatus alt_id: MIM:136880 def: "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)" [http://www.omim.org/entry/136880 "DO"] synonym: "FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE" NARROW [] synonym: "pigmentary retinal dystrophy" EXACT [] synonym: "RETINITIS PUNCTATA ALBESCENS" NARROW [] synonym: "RETINITIS PUNCTATA ALBESCENS, AUTOSOMAL DOMINANT" NARROW [] xref: MESH:C562733 is_a: DOID:5679 ! retinal disease is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:11111 name: hydronephrosis def: "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine. (DO)" [https://my.clevelandclinic.org/health/diseases/15417-hydronephrosis "DO", PMID:39690090 "DO"] synonym: "hydronephroses" EXACT [] xref: EFO:0005562 xref: ICD10CM:N13.30 xref: ICD9CM:591 xref: MESH:D006869 xref: MONDO:0005510 xref: NCI:C26796 is_a: DOID:5200 ! urinary tract obstruction is_a: DOID:557 ! kidney disease [Term] id: DOID:11119 name: Gilles de la Tourette syndrome def: "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO", http://en.wikipedia.org/wiki/Tourette%27s_disorder "DO"] synonym: "chronic motor and vocal tic disorder" EXACT [] synonym: "combined multiple motor and vocal tic disorder" EXACT [] synonym: "Gilles de la Tourette's disease" EXACT [] synonym: "Gilles De La Tourette's Syndrome" EXACT [] synonym: "GTS" EXACT [] synonym: "Guinon's disease" EXACT [] synonym: "HDC-RELATED CONDITION" EXACT [] synonym: "motor-verbal tic disorder" EXACT [] synonym: "psychogenic tics" EXACT [] synonym: "Tourette's Disease" EXACT [] synonym: "Tourette's disorder" EXACT [] synonym: "Tourette's syndrome" EXACT [] synonym: "Tourette Disease" EXACT [] synonym: "Tourette Disorder" EXACT [] synonym: "TOURETTE DISORDER CHRONIC MOTOR TICS" NARROW [] synonym: "Tourettes Disease" EXACT [] synonym: "Tourette syndrome" EXACT [] synonym: "TS" EXACT [] xref: EFO:0004895 xref: GARD:7783 xref: ICD10CM:F95.2 xref: ICD9CM:307.23 xref: MESH:D005879 xref: MIM:137580 xref: MONDO:0007661 xref: NCI:C35078 is_a: DOID:225 ! syndrome is_a: DOID:2769 ! tic disorder is_a: DOID:679 ! basal ganglia disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:11120 name: psychologic dyspareunia def: "Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female." [MESH:D004414] synonym: "dyspareunia" EXACT [] synonym: "non-organic dyspareunia" EXACT [] synonym: "psychogenic dyspareunia" EXACT [] xref: ICD10CM:F52.6 xref: ICD9CM:302.76 xref: MESH:D004414 xref: MONDO:0001196 is_a: DOID:10132 ! psychosexual disorder is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:11121 name: pulpitis def: "A dental pulp disease characterized by inflammation. (DO)" [https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms "DO", https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis "DO"] synonym: "endodontic inflammation" EXACT [] synonym: "endodontic inflammations" EXACT [] synonym: "pulpitides" EXACT [] xref: EFO:1001139 xref: ICD10CM:K04.0 xref: ICD9CM:522.0 xref: MESH:D011671 xref: NCI:C52595 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:11123 name: IgA vasculitis def: "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. (DO)" [https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura "DO"] synonym: "allergic purpura" EXACT [] synonym: "Anaphylactoid Purpura" EXACT [] synonym: "autoimmune purpura" EXACT [] synonym: "Hemorrhagic Vasculitis" EXACT [] synonym: "Henoch Purpura" EXACT [] synonym: "Henoch-Schoenlein purpura" EXACT [] synonym: "Henoch-Schoenlein purpura nephritis" NARROW [] synonym: "Henoch-Scholein purpura" EXACT [] synonym: "Henoch Schonlein Purpura" EXACT [] synonym: "Henoch Schonlein Purpuras" EXACT [] synonym: "Henoch-Schönlein purpura" EXACT [] synonym: "HSP" EXACT [] synonym: "IgAV" EXACT [] synonym: "immunoglobulin A vasculitis" EXACT [] synonym: "Nonthrombocytopenic Purpura" EXACT [] synonym: "Nonthrombopenic Purpura" EXACT [] synonym: "Purpura Hemorrhagica" EXACT [] synonym: "rheumatoid purpura" EXACT [] xref: EFO:1000965 xref: GARD:8204 xref: ICD10CM:D69.0 xref: ICD9CM:287.0 xref: MESH:D011695 xref: MONDO:0019167 xref: NCI:C34963 xref: ORDO:761 is_a: DOID:3326 ! purpura is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9809 ! hypersensitivity vasculitis [Term] id: DOID:11125 name: qualitative platelet defect synonym: "qualitative platelet deficiency" EXACT [] xref: ICD9CM:287.1 xref: MONDO:0001197 is_a: DOID:2218 ! blood platelet disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11126 name: acquired thrombocytopenia synonym: "secondary thrombocytopenia" EXACT [] xref: ICD10CM:D69.5 xref: ICD9CM:287.4 xref: RDO:9002307 is_a: DOID:1588 ! thrombocytopenia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11129 name: dislocation of ear ossicle synonym: "dislocation of ear ossicles" EXACT [] xref: ICD9CM:385.23 xref: MONDO:0001199 is_a: DOID:5100 ! middle ear disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11130 name: secondary hypertension xref: EFO:1002034 xref: ICD10CM:I15 xref: ICD9CM:405 xref: MONDO:0001200 xref: NCI:C3657 is_a: DOID:10763 ! hypertension created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:11132 name: prostatic hypertrophy alt_id: MIM:600082 def: "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." [MESH:D011470] synonym: "benign prostatic hyperplasia" EXACT [] synonym: "benign prostatic hypertrophy" EXACT [] synonym: "prostatic hyperplasia" EXACT [] xref: EFO:0000284 xref: MESH:D011470 xref: NCI:C2897 is_a: DOID:47 ! prostate disease [Term] id: DOID:11133 name: prostatic cyst synonym: "cyst of prostate" EXACT [] xref: ICD10CM:N42.83 xref: ICD9CM:600.3 xref: MONDO:0001202 is_a: DOID:11132 ! prostatic hypertrophy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11134 name: prolapse of lacrimal gland synonym: "dislocation of lacrimal gland" EXACT [] xref: ICD10CM:H04.16 xref: ICD9CM:375.16 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:9006649 ! Prolapse created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1114 name: esophagus sarcoma def: "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO", PMID:1658495 "DO"] synonym: "esophageal sarcoma" EXACT [] xref: NCI:C5341 is_a: DOID:1115 ! sarcoma is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11148 name: hypersecretion glaucoma def: "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants "DO", https://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904 "DO"] xref: ICD10CM:H40.82 xref: ICD9CM:365.81 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11149 name: aqueous misdirection def: "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. (DO)" [https://eyewiki.aao.org/Aqueous_misdirection "DO"] xref: ICD10CM:H40.83 xref: ICD9CM:365.83 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:1115 name: sarcoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)" [http://cancergenome.nih.gov/cancersselected/Sarcoma "DO", http://en.wikipedia.org/wiki/Sarcoma "DO", http://www.cancer.gov/dictionary?CdrID=45562 "DO"] synonym: "connective and soft tissue neoplasm" EXACT [] synonym: "sarcomas" EXACT [] synonym: "soft tissue sarcoma" NARROW [] synonym: "soft tissue sarcomas" NARROW [] synonym: "tumor of soft tissue and skeleton" EXACT [] xref: EFO:0000691 xref: EFO:1001968 xref: ICD9CM:171.9 xref: ICDO:8800/3 xref: MESH:D012509 xref: MONDO:0005089 xref: NCI:C128195 xref: NCI:C132276 xref: NCI:C21603 xref: NCI:C60505 xref: NCI:C9118 xref: NCI:C9306 is_a: DOID:0050687 ! cell type cancer is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:11151 name: cholecystolithiasis def: "Presence or formation of GALLSTONES in the GALLBLADDER." [MESH:D041761] xref: EFO:1000864 xref: MESH:D041761 xref: MONDO:0006698 xref: NCI:C34443 is_a: DOID:10211 ! cholelithiasis [Term] id: DOID:11153 name: miliaria rubra def: "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. (DO)" [https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] synonym: "prickly heat" EXACT [] xref: EFO:1000735 xref: ICD10CM:L74.0 xref: ICD9CM:705.1 is_a: DOID:1382 ! miliaria [Term] id: DOID:11155 name: hypohidrosis def: "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. (DO)" [https://en.wikipedia.org/wiki/Hypohidrosis "DO"] synonym: "oligohidrosis" EXACT [] xref: EFO:1000712 xref: ICD10CM:L74.4 xref: MESH:D007007 xref: NCI:C34718 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:11156 name: anhidrosis def: "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. (DO)" [https://en.wikipedia.org/wiki/Hypohidrosis "DO", https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat "DO"] synonym: "absence of sweating" EXACT [] synonym: "adiaphoresis" EXACT [] synonym: "familial generalized anhidrosis with abnormal or absent sweat glands" NARROW [] synonym: "familial generalized anhidrosis with normal sweat glands" NARROW [] xref: EFO:1000670 xref: ICD9CM:705.0 xref: MIM:206600 xref: NCI:C34385 is_a: DOID:11155 ! hypohidrosis created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1116 name: pertussis def: "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). (DO)" [http://en.wikipedia.org/wiki/Pertussis "DO", http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800 "DO"] synonym: "pertusses" EXACT [] synonym: "respiratory Bordetella pertussis infection" EXACT [] synonym: "WC - whooping cough" EXACT [] synonym: "whooping cough" EXACT [] xref: EFO:0000650 xref: MESH:D014917 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:9007021 ! Bordetella Infections is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:11161 name: neonatal respiratory failure def: "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. (DO)" [PMID:26781405 "DO"] synonym: "respiratory failure of newborn" EXACT [] xref: ICD10CM:P28.5 xref: ICD9CM:770.84 is_a: DOID:11162 ! respiratory failure created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11162 name: respiratory failure def: "A lung disease characterized by inadequate gas exchange by the respiratory system. (DO)" [http://en.wikipedia.org/wiki/Respiratory_failure "DO"] synonym: "acute and chronic respiratory failure" EXACT [] synonym: "acute-on-chronic respiratory failure" EXACT [] synonym: "acute respiratory failure" NARROW [] synonym: "chronic respiratory failure" NARROW [] synonym: "progressive pulmonary failure" NARROW [] synonym: "Respiratory Depression" EXACT [] synonym: "Respiratory Insufficiency" EXACT [] synonym: "respiratory insufficiency/failure" EXACT [] synonym: "ventilatory depression" EXACT [] xref: EFO:0009686 xref: EFO:0009842 xref: ICD10CM:J96.0 xref: ICD9CM:518.81 xref: MESH:D012131 xref: MONDO:0021113 xref: NCI:C27043 is_a: DOID:850 ! lung disease is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:11164 name: band keratopathy synonym: "band-shaped corneal dystrophy" EXACT [] synonym: "band-shaped keratopathy" EXACT [] xref: ICD10CM:H18.42 xref: ICD9CM:371.43 xref: MESH:C562399 xref: MIM:217500 xref: MONDO:0009016 xref: NCI:C118765 is_a: DOID:1237 ! corneal degeneration is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:11165 name: common wart def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. (DO)" [http://en.wikipedia.org/wiki/Wart "DO"] xref: EFO:0009662 xref: NCI:C27087 xref: NCI:C5028 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11166 name: papillomavirus infectious disease def: "Papilloma virus infections commonly cause skin or mucous membrane growths (warts)." [] synonym: "chronic human papillomavirus infection" NARROW [] synonym: "HPV18I1" RELATED [] synonym: "HPV18I2" RELATED [] synonym: "human papilloma virus infection" NARROW [] synonym: "human papillomavirus infectious disease" NARROW [] synonym: "human papillomavirus type 18 integration site 1" RELATED [] synonym: "human papillomavirus type 18 integration site 2" RELATED [] synonym: "Papillomavirus Infection" EXACT [] synonym: "papillomavirus infections" EXACT [] synonym: "papillomavirus type 18 integration site 1" RELATED [] synonym: "papillomavirus type 18 integration site 2" RELATED [] xref: EFO:0001668 xref: EFO:0010060 xref: MESH:D030361 is_a: DOID:9000251 ! DNA Virus Infections is_a: DOID:9003373 ! Uterine Cervical Neoplasms is_a: DOID:9004886 ! Tumor Virus Infections created_by: mtutaj creation_date: 2019-10-16T08:47:32Z [Term] id: DOID:11168 name: anogenital venereal wart def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html "DO"] synonym: "anogenital human papilloma virus infectious disease" EXACT [] synonym: "anogenital warts" EXACT [] synonym: "condyloma acuminatum" EXACT [] synonym: "Condylomata Acuminata" EXACT [] synonym: "Genital Wart" EXACT [] synonym: "Genital Warts" EXACT [] synonym: "genital wart virus infectious disease" EXACT [] synonym: "Venereal Wart" EXACT [] synonym: "Venereal Warts" EXACT [] xref: EFO:0007147 xref: ICD10CM:A63.0 xref: ICD9CM:078.11 xref: MESH:D003218 xref: NCI:C2960 xref: NCI:C4820 is_a: DOID:121 ! vaginal disease is_a: DOID:1529 ! penile disease is_a: DOID:3128 ! anus disease is_a: DOID:3178 ! skin papilloma is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases [Term] id: DOID:11175 name: enophthalmos def: "Recession of the eyeball into the orbit." [MESH:D015841] xref: ICD10CM:H05.4 xref: ICD9CM:376.5 xref: MESH:D015841 xref: NCI:C79552 is_a: DOID:930 ! orbital disease [Term] id: DOID:11177 name: total internal ophthalmoplegia xref: ICD9CM:367.52 is_a: DOID:10034 ! eye accommodation disease is_a: DOID:238 ! pupil disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11180 name: non-suppurative otitis media def: "A otitis media which involves transudation of fluid in the middle ear without pus formation. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 "DO"] synonym: "nonsuppurative otitis media" EXACT [] xref: ICD10CM:H65 xref: ICD9CM:381.4 is_a: DOID:10754 ! otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11181 name: serous glue ear def: "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. (DO)" [http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion "DO"] xref: ICD10CM:H65.2 xref: ICD9CM:381.1 xref: MONDO:0001213 is_a: DOID:11180 ! non-suppurative otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11184 name: acute conjunctivitis xref: ICD10CM:H10.02 xref: ICD9CM:372.03 is_a: DOID:6195 ! conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11186 name: allescheriosis def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. (DO)" [PMID:934264 "DO"] synonym: "petriellidosis" EXACT [] xref: ICD10CM:B48.2 xref: ICD9CM:117.6 is_a: DOID:0050292 ! primary systemic mycosis created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:11189 name: pulp degeneration xref: ICD10CM:K04.2 xref: ICD9CM:522.2 xref: NCI:C34962 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:11190 name: pseudomembranous conjunctivitis def: "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. (DO)" [http://bjo.bmj.com/content/55/5/312.full.pdf "DO", PMID:9400798 "DO"] xref: ICD10CM:H10.22 xref: ICD9CM:372.04 xref: NCI:C35196 xref: RDO:9003079 is_a: DOID:11184 ! acute conjunctivitis is_a: DOID:6195 ! conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11193 name: syndactyly def: "A synostosis that results_in the fusion of two or more digits. (DO)" [http://en.wikipedia.org/wiki/Syndactyly "DO", http://www.hmc.psu.edu/healthinfo/pq/poly.htm "DO", http://www.wheelessonline.com/ortho/syndactyly "DO"] synonym: "non-syndromic syndactyly" NARROW [] synonym: "polysyndactyly" EXACT [] synonym: "symphalangism" EXACT [] synonym: "symphalangy" EXACT [] synonym: "syndactylia" EXACT [] synonym: "syndactylias" EXACT [] synonym: "webbing of digits" EXACT [] xref: GARD:13181 xref: ICD10CM:Q70 xref: ICD9CM:755.1 xref: MESH:D013576 xref: MONDO:0021002 xref: NCI:C125597 xref: NCI:C87125 xref: ORDO:90025 is_a: DOID:11971 ! synostosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:11195 name: acute laryngopharyngitis def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx. (DO)" [https://www.merriam-webster.com/medical/laryngopharyngitis "DO"] xref: ICD10CM:J06.0 xref: ICD9CM:465.0 xref: RDO:9004967 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:11197 name: serous conjunctivitis except viral def: "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. (DO)" [https://www.aafp.org/afp/1998/0215/p735.html "DO"] xref: ICD10CM:H10.23 xref: ICD9CM:372.01 is_a: DOID:11184 ! acute conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11198 name: DiGeorge syndrome alt_id: MIM:188400 def: "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome "DO", https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome "DO"] synonym: "22q11.2 deletion syndrome" EXACT [] synonym: "22q11.2DS" EXACT [] synonym: "autosomal dominant Opitz G Bbb syndrome" EXACT [] synonym: "CATCH22" NARROW [] synonym: "CHROMOSOME 22q11.2 DELETION SYNDROME" EXACT [] synonym: "DGCR" NARROW [] synonym: "DGS" EXACT [] synonym: "DiGeorge's syndrome" EXACT [] synonym: "DiGeorge Anomaly" EXACT [] synonym: "DiGeorge Sequence" EXACT [] synonym: "Familial Third and Fourth Pharyngeal Pouch Syndrome" EXACT [] synonym: "hypoplasia of thymus and parathyroids" EXACT [] synonym: "pharyngeal pouch syndrome" EXACT [] synonym: "Sedlackova syndrome" EXACT [] synonym: "third and fourth pharyngeal pouch syndrome" NARROW [] synonym: "thymic aplasia syndrome" EXACT [] xref: GARD:10299 xref: ICD10CM:D82.1 xref: ICD9CM:279.11 xref: MESH:D004062 xref: NCI:C2989 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001460 ! 22q11 Deletion Syndrome [Term] id: DOID:11199 name: hypoparathyroidism def: "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. (DO)" [http://en.wikipedia.org/wiki/Hypoparathyroidism "DO", http://ghr.nlm.nih.gov/glossary=hypoparathyroidism "DO", http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956 "DO"] synonym: "idiopathic hypoparathyroidism" EXACT [] xref: EFO:0009451 xref: GARD:6733 xref: ICD10CM:E20 xref: ICD9CM:252.1 xref: MESH:D007011 xref: NCI:C78350 xref: ORDO:2238 is_a: DOID:11201 ! parathyroid gland disease [Term] id: DOID:112 name: esophageal varix def: "Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL)." [MESH:D004932] synonym: "Bleeding esophageal varices" EXACT [SNOMEDCT_2005_07_31:17709002] synonym: "Bleeding oesophageal varices" EXACT [SNOMEDCT_2005_07_31:236067006] synonym: "Esophageal and Gastric Varices" EXACT [] synonym: "esophageal varices" EXACT [] synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [] synonym: "esophageal varices with bleeding" EXACT [] synonym: "esophageal varices with bleeding in disease EC" EXACT [] synonym: "esophageal varices without bleeding" EXACT [] synonym: "esophageal varices without mention of bleeding" EXACT [] synonym: "gastric varices" EXACT [] synonym: "Gastric Varix" EXACT [] xref: EFO:0009545 xref: GARD:6384 xref: ICD10CM:I85.01 xref: ICD9CM:456.0 xref: ICD9CM:456.2 xref: ICD9CM:456.20 xref: MESH:D004932 xref: MONDO:0001221 xref: NCI:C53506 xref: NCI:C78282 is_a: DOID:10762 ! portal hypertension is_a: DOID:6050 ! esophageal disease is_a: DOID:866 ! vein disease [Term] id: DOID:11200 name: T cell deficiency alt_id: DOID:613 def: "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. (DO)" [https://en.wikipedia.org/wiki/T_cell_deficiency "DO", PMID:18755723 "DO"] synonym: "T-cell Immunodeficiency" EXACT [] synonym: "T-lymphocyte deficiency" EXACT [] synonym: "T-lymphocyte immunodeficiency" EXACT [] xref: NCI:C27145 xref: NCI:C27872 is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11201 name: parathyroid gland disease def: "An endocrine system disease that is located_in the parathyroid gland. (DO)" [http://en.wikipedia.org/wiki/Parathyroid_disease "DO"] synonym: "disease of parathyroid glands" EXACT [] synonym: "Parathyroid Disease" EXACT [] synonym: "parathyroid diseases" EXACT [] synonym: "Parathyroid Disorder" EXACT [] synonym: "parathyroid disorders" EXACT [] xref: EFO:0005754 xref: ICD10CM:E21.5 xref: ICD9CM:252.9 xref: MESH:D010279 xref: NCI:C26844 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:11202 name: primary hyperparathyroidism def: "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. (DO)" [https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/ "DO"] synonym: "familial benign hypercalcemia" EXACT [SNOMEDCT_2005_07_31:190868007] synonym: "familial primary hyperparathyroidism" EXACT [] synonym: "primary hyperparathyroidisms" EXACT [] xref: EFO:0002620 xref: EFO:0008519 xref: GARD:8612 xref: ICD10CM:E21.0 xref: ICD9CM:252.01 xref: MESH:D049950 xref: NCI:C48280 xref: ORDO:99878 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:11203 name: Angelucci's syndrome synonym: "acute atopic conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193863004] synonym: "Angelucci syndrome" EXACT [] xref: ICD10CM:H10.1 xref: ICD9CM:372.05 xref: NCI:C34353 xref: RDO:9002737 is_a: DOID:11204 ! allergic conjunctivitis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11204 name: allergic conjunctivitis def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. (DO)" [http://en.wikipedia.org/wiki/Allergic_conjunctivitis "DO"] synonym: "Allergic Conjunctivitides" EXACT [] synonym: "Atopic Conjunctivitides" EXACT [] synonym: "Atopic Conjunctivitis" EXACT [] xref: EFO:0007141 xref: MESH:D003233 xref: NCI:C34506 is_a: DOID:2475 ! chronic conjunctivitis is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:11206 name: opioid abuse def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Opioid "DO"] synonym: "opioid use disorder" EXACT [] synonym: "OUD" EXACT [] xref: EFO:0010702 xref: ICD10CM:F11.1 xref: ICD9CM:305.5 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11211 name: buphthalmos alt_id: MIM:231300 def: "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"] synonym: "BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET" NARROW [] synonym: "congenital glaucoma" BROAD [] synonym: "CYP1B1-RELATED CONDITION" BROAD [] synonym: "CYP1B1-RELATED DISORDER" BROAD [] synonym: "GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC" NARROW [] synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET" NARROW [] synonym: "GLC3" EXACT [] synonym: "GLC3A" EXACT [] synonym: "primary congenital glaucoma 3, A" EXACT [] synonym: "primary congenital glaucoma 3A" EXACT [] synonym: "simple buphthalmos" EXACT [] xref: ICD9CM:743.21 xref: MESH:C565547 xref: NCI:C148260 is_a: DOID:0050593 ! primary congenital glaucoma is_a: DOID:11212 ! hydrophthalmos [Term] id: DOID:11212 name: hydrophthalmos def: "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"] xref: EFO:1000968 xref: ICD10CM:Q15.0 xref: MESH:D006871 xref: NCI:C50648 is_a: DOID:0050593 ! primary congenital glaucoma is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:11213 name: acute contagious conjunctivitis def: "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. (DO)" [https://www.aafp.org/afp/1998/0215/p735.html "DO"] synonym: "contagious opthalmia" EXACT [] synonym: "pink eye" EXACT [] synonym: "pinkeye" EXACT [] xref: MONDO:0001226 xref: NCI:C35704 is_a: DOID:11184 ! acute conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11217 name: chronic tympanitis xref: ICD10CM:H73.1 xref: ICD9CM:384.1 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:11219 name: conjunctival folliculosis def: "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. (DO)" [https://www.ajo.com/article/S0002-9394(21)90838-9/abstract "DO"] synonym: "acute follicular conjunctivitis" EXACT [] xref: ICD10CM:H10.01 xref: ICD9CM:372.02 xref: MONDO:0001228 is_a: DOID:11184 ! acute conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11223 name: small intestine diverticulitis synonym: "Diverticulosis of small intestine with hemorrhage" EXACT [] xref: RDO:9003925 is_a: DOID:7475 ! diverticulitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11227 name: acute hemorrhagic conjunctivitis def: "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. (DO)" [https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis "DO"] synonym: "acute hemorrhagic conjunctivitides" EXACT [] synonym: "Apollo disease" EXACT [] synonym: "epidemic hemorrhagic conjunctivitis" EXACT [] xref: EFO:0007131 xref: ICD9CM:077.4 xref: MESH:D003232 xref: NCI:C34505 is_a: DOID:9000608 ! Viral Conjunctivitis is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:1123 name: spondyloarthropathy def: "Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." [MESH:D025242] synonym: "spondarthropathy" EXACT [] synonym: "spondylarthrosis" EXACT [] synonym: "spondyloarthropathies" EXACT [] xref: EFO:0000706 xref: GARD:4971 xref: MESH:D025242 is_a: DOID:381 ! arthropathy [Term] id: DOID:11230 name: acute orbital inflammation synonym: "acute inflammation of orbit" EXACT [ICD9CM_2006:376.0] xref: ICD10CM:H05.0 xref: ICD9CM:376.0 xref: RDO:9002989 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11231 name: orbital periostitis def: "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/ "DO"] xref: ICD10CM:H05.03 xref: ICD9CM:376.02 xref: RDO:9002992 is_a: DOID:11230 ! acute orbital inflammation is_a: DOID:9957 ! periostitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11232 name: orbital osteomyelitis def: "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/ "DO"] xref: ICD10CM:H05.02 xref: ICD9CM:376.03 xref: RDO:9002990 is_a: DOID:11230 ! acute orbital inflammation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11233 name: orbital tenonitis def: "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/ "DO"] synonym: "tenonitis" EXACT [] xref: ICD9CM:376.04 xref: RDO:9002994 is_a: DOID:11230 ! acute orbital inflammation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11234 name: orbital cellulitis def: "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. (DO)" [https://en.wikipedia.org/wiki/Tenonitis "DO"] synonym: "Orbital Cellulitides" EXACT [] xref: EFO:1001076 xref: ICD10CM:H05.01 xref: ICD9CM:376.01 xref: MESH:D054517 xref: NCI:C99000 is_a: DOID:11230 ! acute orbital inflammation is_a: DOID:3488 ! cellulitis is_a: DOID:930 ! orbital disease [Term] id: DOID:11235 name: adhesive otitis media def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. (DO)" [https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media "DO"] synonym: "chronic adhesive otitis media" EXACT [] xref: ICD10CM:H74.1 xref: ICD9CM:385.1 xref: RDO:9004867 is_a: DOID:10754 ! otitis media created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11239 name: appendix cancer def: "A intestinal cancer that is located_in the appendix. (DO)" [http://en.wikipedia.org/wiki/Vermiform_appendix "DO"] synonym: "appendiceal cancer" EXACT [] synonym: "cancer of appendix" EXACT [] synonym: "cancer of the appendix" EXACT [] synonym: "malignant neoplasm of appendix vermiformis" EXACT [] synonym: "malignant tumor of appendix" EXACT [] synonym: "malignant tumor of the appendix" EXACT [] xref: ICD10CM:C18.1 xref: ICD9CM:153.5 xref: NCI:C9333 is_a: DOID:10155 ! intestinal cancer is_a: DOID:11240 ! appendiceal neoplasm is_a: DOID:60000 ! appendix disease [Term] id: DOID:11240 name: appendiceal neoplasm alt_id: RDO:0004891 def: "Tumors or cancer of the APPENDIX." [MESH:D001063] synonym: "appendiceal neoplasms" EXACT [] synonym: "Appendix Adenoma" NARROW [] synonym: "appendix neoplasm" EXACT [] synonym: "Appendix Villous Adenoma" NARROW [] synonym: "neoplasm of appendix" EXACT [] xref: EFO:0003880 xref: EFO:1000089 xref: EFO:1000093 xref: MESH:D001063 xref: NCI:C4434 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:9003694 ! Cecal Neoplasms [Term] id: DOID:11241 name: appendix lymphoma synonym: "appendiceal lymphoma" EXACT [] xref: NCI:C5513 is_a: DOID:0060058 ! lymphoma is_a: DOID:11239 ! appendix cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11242 name: plethora of newborn synonym: "neonatal polycythemia" EXACT [] xref: ICD10CM:P61.1 xref: ICD9CM:776.4 xref: MONDO:0010055 xref: NCI:C27069 is_a: DOID:8432 ! polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11243 name: anemia of prematurity def: "A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. (DO)" [https://www.nature.com/articles/s41372-021-00992-0 "DO", PMID:20463861 "DO"] xref: ICD10CM:P61.2 xref: ICD9CM:776.6 xref: MONDO:0001239 xref: NCI:C97167 is_a: DOID:11244 ! neonatal anemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11244 name: neonatal anemia def: "An anemia that is characterized by a lower red blood cell count than normal in neonates. (DO)" [https://my.clevelandclinic.org/health/diseases/15698-anemia-in-newborns "DO"] synonym: "anemia neonatorum" EXACT [] synonym: "HEMOGLOBIN DARTMOUTH" RELATED [] synonym: "neonatal anaemia" EXACT [] synonym: "neonatal anemias" EXACT [] xref: MESH:D000751 xref: MONDO:0001240 is_a: DOID:2355 ! anemia is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:11245 name: transient neonatal neutropenia xref: ICD10CM:P61.5 xref: ICD9CM:776.7 xref: MONDO:0001241 is_a: DOID:1227 ! neutropenia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11246 name: DIC in newborn synonym: "Disseminated intravascular coagulation in newborn" EXACT [] xref: ICD10CM:P60 xref: ICD9CM:776.2 xref: NCI:C111856 xref: RDO:9002937 is_a: DOID:11247 ! disseminated intravascular coagulation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11247 name: disseminated intravascular coagulation def: "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS." [MESH:D004211] synonym: "Consumption Coagulopathies" EXACT [] synonym: "Consumption Coagulopathy" EXACT [] synonym: "defibrination syndrome" EXACT [] synonym: "DIC" EXACT [] synonym: "DIC with the fibrinolytic phenotype" NARROW [] synonym: "diffuse or disseminated intravascular coagulation" EXACT [] xref: ICD9CM:286.6 xref: MESH:D004211 xref: MONDO:0001243 xref: NCI:C2992 is_a: DOID:1247 ! blood coagulation disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:11249 name: vitamin K deficiency bleeding def: "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. (DO)" [https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn "DO", https://medlineplus.gov/ency/article/007320.htm "DO", https://www.cdc.gov/ncbddd/vitamink/facts.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/ "DO"] synonym: "deficiency of vitamin K" EXACT [] synonym: "hemorrhagic disease of newborn" EXACT [] synonym: "newborn hemorrhagic disease" EXACT [] synonym: "newborn hemorrhagic diseases" EXACT [] synonym: "vitamin K deficiencies" EXACT [] synonym: "vitamin K deficiency" EXACT [] synonym: "vitamin K deficiency hemorrhagic disease" EXACT [] xref: EFO:1000964 xref: ICD10CM:E56.1 xref: ICD9CM:269.0 xref: MESH:D006475 xref: MESH:D014813 xref: NCI:C99108 is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9004153 ! Infant Nutrition Disorders is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:11252 name: microcytic anemia def: "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470252/ "DO", PMID:1578956 "DO"] synonym: "Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism" EXACT [] synonym: "IRIDA" EXACT [] synonym: "Iron-Handling Disorder, Hereditary" EXACT [] synonym: "Iron-Refractory Iron Deficiency Anemia" EXACT [] synonym: "Pseudo-Iron-Deficiency Anemia" EXACT [] synonym: "TMPRSS6-RELATED CONDITION" EXACT [] xref: MESH:C562385 xref: MIM:206200 xref: MONDO:0001245 xref: NCI:C35141 is_a: DOID:2355 ! anemia [Term] id: DOID:11254 name: Brill-Zinsser disease def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. (DO)" [http://en.wikipedia.org/wiki/Epidemic_typhus "DO"] synonym: "Brill's disease" EXACT [ICD9CM_2006:081.1] synonym: "Brill disease" EXACT [] synonym: "Brills disease" EXACT [] synonym: "latent typhus" RELATED [] synonym: "recrudescent typhus" EXACT [MTHICD9_2006:081.1] synonym: "sporadic typhus" RELATED [] xref: EFO:0007182 xref: ICD10CM:A75.1 xref: ICD9CM:081.1 xref: RDO:9002599 is_a: DOID:0050480 ! epidemic typhus created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11256 name: typhus def: "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. (DO)" [https://en.wikipedia.org/wiki/Typhus "DO"] synonym: "classical typhus" RELATED [] synonym: "European typhus" RELATED [] synonym: "exanthematic typhus fever" EXACT [] synonym: "exanthematous typhus" RELATED [] synonym: "famine fever" RELATED [] synonym: "flea typhus" EXACT [] synonym: "hospital fever" RELATED [] synonym: "louse-borne [epidemic] typhus" EXACT [] synonym: "Mexican typhus" RELATED [] synonym: "Moscow typhus" EXACT [] synonym: "Petechial fever" RELATED [] synonym: "prison fever" RELATED [] synonym: "Rat flea typhus" RELATED [] synonym: "ship fever" RELATED [] synonym: "shop typhus" RELATED [] synonym: "typhus exanthematique" RELATED [] synonym: "typhus fever" EXACT [] xref: EFO:0009117 xref: GARD:7833 xref: ICD10CM:A75.0 xref: ICD10CM:A75.2 xref: ICD10CM:A75.9 xref: ICD9CM:080 xref: ICD9CM:081.0 xref: ICD9CM:081.9 xref: NCI:C84689 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9007347 ! Rickettsia Infections created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11257 name: social phobia def: "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. (DO)" [http://en.wikipedia.org/wiki/Social_phobia "DO"] synonym: "social anxiety disorder" EXACT [] synonym: "social anxiety disorders" EXACT [] synonym: "social evaluation fear" EXACT [] synonym: "social evaluation phobia" EXACT [] synonym: "social phobias" EXACT [] synonym: "sociophobia" EXACT [] synonym: "sociophobias" EXACT [] xref: EFO:1001917 xref: ICD10CM:F40.1 xref: ICD9CM:300.23 xref: MESH:D000072861 xref: NCI:C34927 is_a: DOID:591 ! phobic disorder [Term] id: DOID:11258 name: cat-scratch disease def: "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. (DO)" [http://en.wikipedia.org/wiki/Cat_scratch_disease "DO", http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# "DO"] synonym: "benign lymphoreticulosis" EXACT [] synonym: "catscratch disease" EXACT [] synonym: "cat scratch fever" EXACT [] synonym: "Debre's Syndrome" EXACT [] synonym: "Debre-Mollaret Syndrome" EXACT [] synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT [] synonym: "inoculation lymphoreticuloses" EXACT [] synonym: "Inoculation Lymphoreticulosis" EXACT [] synonym: "inoculative lymphoreticuloses" EXACT [] synonym: "inoculative lymphoreticulosis" EXACT [] xref: EFO:0007195 xref: ICD10CM:A28.1 xref: ICD9CM:078.3 xref: MESH:D002372 xref: NCI:C84620 is_a: DOID:11102 ! bartonellosis is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:11260 name: rabies def: "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs. (DO)" [http://en.wikipedia.org/wiki/Rabies "DO", https://www.cdc.gov/yellow-book/hcp/travel-associated-infections-diseases/rabies.html "DO"] synonym: "hydrophobia" EXACT [] synonym: "lyssa" EXACT [] xref: GARD:7516 xref: ICD10CM:A82 xref: ICD9CM:071 xref: MESH:D011818 xref: MONDO:0019173 xref: NCI:C28182 is_a: DOID:9008603 ! Rhabdoviridae Infections [Term] id: DOID:11262 name: ornithosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. (DO)" [http://en.wikipedia.org/wiki/Psittacosis "DO"] synonym: "ornithoses" EXACT [] synonym: "psittacoses" EXACT [] synonym: "psittacosis" EXACT [] xref: EFO:0007410 xref: ICD10CM:A70 xref: ICD9CM:073 xref: MESH:D009956 xref: NCI:C34873 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008527 ! Chlamydophila Infections [Term] id: DOID:11263 name: chlamydia def: "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. (DO)" [http://en.wikipedia.org/wiki/Chlamydia_infection "DO"] synonym: "Chlamydia Infection" EXACT [] synonym: "chlamydia infections" EXACT [] synonym: "chlamydial disease" EXACT [] synonym: "chlamydial Infection" EXACT [] synonym: "chlamydia trachomatis infectious disease" EXACT [] xref: EFO:0007205 xref: MESH:D002689 xref: MESH:D002690 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases is_a: DOID:9008090 ! Chlamydiaceae Infections created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:11265 name: trachoma def: "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. (DO)" [http://en.wikipedia.org/wiki/Trachoma "DO", http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm "DO", http://www.who.int/blindness/causes/priority/en/index2.html "DO"] synonym: "active stage trachoma" EXACT [] synonym: "Egyptian ophthalmia" EXACT [] synonym: "trachoma dubium" EXACT [] synonym: "trachomas" EXACT [] xref: GARD:10374 xref: ICD10CM:A71 xref: ICD10CM:A71.0 xref: ICD10CM:A71.1 xref: ICD9CM:076 xref: ICD9CM:076.0 xref: ICD9CM:076.1 xref: MESH:D014141 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:10124 ! corneal disease is_a: DOID:11263 ! chlamydia is_a: DOID:9700 ! bacterial conjunctivitis [Term] id: DOID:11266 name: Hantavirus hemorrhagic fever with renal syndrome def: "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. 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/Hantavirus_hemorrhagic_fever_with_renal_syndrome "DO", https://www.cdc.gov/hantavirus/about/ "DO"] synonym: "epidemic hemorrhagic fever" EXACT [] synonym: "hemorrhagic fever renal syndrome" EXACT [] synonym: "hemorrhagic fever with renal syndrome" EXACT [] synonym: "hemorrhagic nephrosonephritis" EXACT [] synonym: "hemorrhagic nephroso nephritis" EXACT [] synonym: "HFRS" EXACT [] synonym: "Puumala virus nephropathy" EXACT [] synonym: "Russian hemorrhagic fever" EXACT [] xref: EFO:0007299 xref: GARD:18689 xref: ICD10CM:A98.5 xref: ICD9CM:078.6 xref: MESH:D006480 xref: MONDO:0005784 xref: NCI:C84753 xref: ORDO:340 is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007533 ! Hantavirus Infections [Term] id: DOID:11267 name: keratomalacia synonym: "Retinol Deficiency" EXACT [] synonym: "Xerotic Keratitis" EXACT [] xref: GARD:6825 xref: ICD10CM:H18.44 xref: ICD9CM:371.45 xref: MESH:C536156 is_a: DOID:1237 ! corneal degeneration is_a: DOID:9008550 ! Vitamin A Deficiency [Term] id: DOID:11269 name: chronic apical periodontitis xref: ICD9CM:522.6 is_a: DOID:823 ! periapical periodontitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11277 name: Plummer's disease synonym: "Plummer disease" EXACT [] synonym: "toxic nodular goiter" EXACT [] xref: EFO:0009191 xref: ICD10CM:E05.2 xref: ICD9CM:242.3 xref: NCI:C35171 is_a: DOID:7998 ! hyperthyroidism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11282 name: solar retinopathy synonym: "solar retinitis" EXACT [] xref: ICD10CM:H31.02 xref: ICD9CM:363.31 is_a: DOID:11086 ! chorioretinal scar created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11283 name: peripheral scars of retina xref: ICD9CM:363.34 is_a: DOID:11086 ! chorioretinal scar created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11285 name: tick paralysis def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. (DO)" [http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm "DO", http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm "DO", PMID:10428629 "DO"] synonym: "Tick Paralyses" EXACT [] xref: EFO:0007509 xref: GARD:7771 xref: MESH:D013985 is_a: DOID:4109 ! tick infestation is_a: DOID:9007773 ! Tick Toxicoses [Term] id: DOID:11289 name: ventilation pneumonitis def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. (DO)" [http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf "DO"] synonym: "Air-conditioner and humidifier lung" EXACT [SNOMEDCT_2005_07_31:195990006] synonym: "Humidifier lung" EXACT [SNOMEDCT_2005_07_31:48347002] xref: ICD10CM:J67.7 xref: ICD9CM:495.7 xref: RDO:9002683 is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:1129 name: pituitary apoplexy def: "The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." [MESH:D010899] xref: EFO:1001108 xref: MESH:D010899 xref: MONDO:0006908 xref: NCI:C26853 is_a: DOID:1130 ! pituitary infarct is_a: DOID:9003104 ! Intracranial Hemorrhages [Term] id: DOID:11294 name: arteriovenous malformation def: "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)" [http://en.wikipedia.org/wiki/Arteriovenous_malformation "DO"] synonym: "arteriovenous hemangioma" EXACT [] synonym: "arteriovenous malformations" EXACT [] synonym: "cirsoid aneurysm" EXACT [] synonym: "racemose aneurysm" EXACT [] synonym: "racemose angioma" EXACT [] synonym: "racemose hemangioma" EXACT [] xref: ICD10CM:I77.0 xref: ICDO:9123/0 xref: MESH:D001165 xref: NCI:C2882 is_a: DOID:255 ! hemangioma is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:11295 name: retinal microaneurysm def: "Aneurysm of the MICROVASCULATURE. Charcot?Bouchard aneurysms are aneurysms of the brain vasculature which is a common cause of CEREBRAL HEMORRHAGE. Retinal microaneurysm is an early diagnostic sign of DIABETIC RETINOPATHY." [MESH:D000071071] synonym: "Charcot-Bouchard aneurysm" EXACT [] synonym: "Charcot-Bouchard aneurysms" EXACT [] synonym: "microaneurysm" EXACT [] synonym: "Microaneurysms" EXACT [] synonym: "Miliary Aneurysm" EXACT [] synonym: "Miliary Aneurysms" EXACT [] synonym: "Retinal Microaneurysms" EXACT [] xref: ICD9CM:362.14 xref: MESH:D000071071 xref: MONDO:0001257 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:11299 name: vertebral artery occlusion synonym: "occlusion and stenosis of vertebral artery" EXACT [] xref: ICD10CM:I65.0 xref: ICD9CM:433.2 xref: RDO:9004098 is_a: DOID:0050828 ! artery disease is_a: DOID:5976 ! occlusion precerebral artery created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1130 name: pituitary infarct synonym: "pituitary gland infarction" EXACT [] synonym: "pituitary infarction" EXACT [] xref: MONDO:0001259 xref: NCI:C27117 is_a: DOID:3646 ! necrosis of pituitary created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11302 name: cercarial dermatitis def: "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. (DO)" [https://en.wikipedia.org/wiki/Swimmer%27s_itch "DO", https://www.cdc.gov/parasites/swimmersitch/index.html "DO"] synonym: "cutaneous schistosomiasis" EXACT [] synonym: "sea bather's eruption" EXACT [] xref: GARD:9747 xref: ICD10CM:B65.3 xref: ICD9CM:120.3 xref: NCI:C34457 xref: RDO:9002363 is_a: DOID:1395 ! schistosomiasis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:11312 name: Mobitz type II atrioventricular block synonym: "Mobitz II atrioventricular block" EXACT [MTHICD9_2006:426.12] xref: ICD9CM:426.12 xref: NCI:C62018 xref: RDO:9003342 is_a: DOID:0050822 ! second-degree atrioventricular block created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11315 name: African histoplasmosis def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. (DO)" [http://www.cdc.gov/eid/content/13/11/1647.htm "DO"] xref: ICD9CM:115.10 xref: RDO:9002327 is_a: DOID:1731 ! histoplasmosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11316 name: histoplasmosis retinitis synonym: "histoplasmosis with retinitis" EXACT [] xref: ICD9CM:115.92 xref: RDO:9002693 is_a: DOID:3612 ! retinitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11320 name: Kyasanur forest disease def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/ "DO", https://www.cdc.gov/kyasanur/about/ "DO"] xref: GARD:8257 xref: ICD10CM:A98.2 xref: ICD9CM:065.2 xref: MESH:D007733 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:11328 name: schizophreniform disorder def: "A psychotic disorder that involves schizophrenia symptoms over time period of one month. (DO)" [http://en.wikipedia.org/wiki/Schizophreniform_disorder "DO"] synonym: "schizophreniform disorders" EXACT [] xref: ICD10CM:F20.81 xref: ICD9CM:295.4 xref: NCI:C94376 is_a: DOID:2468 ! psychotic disorder is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11329 name: ainhum alt_id: MIM:103400 def: "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. (DO)" [http://en.wikipedia.org/wiki/Ainhum "DO", https://www.merriam-webster.com/medical/ainhum "DO"] synonym: "dactylolysis spontanea" EXACT [] synonym: "spontaneous dactylolyses" EXACT [] synonym: "spontaneous dactylolysis" EXACT [] xref: GARD:9512 xref: ICD10CM:L94.6 xref: ICD9CM:136.0 xref: MESH:D000387 xref: NCI:C84544 is_a: DOID:0080011 ! bone resorption disease [Term] id: DOID:11330 name: erysipelas def: "An acute infection of the skin caused by species of STREPTOCOCCUS. This disease most frequently affects infants, young children, and the elderly. Characteristics include pink-to-red lesions that spread rapidly and are warm to the touch. The commonest site of involvement is the face." [MESH:D004886] xref: EFO:1001462 xref: GARD:6370 xref: ICD10CM:A46 xref: ICD9CM:035 xref: MESH:D004886 is_a: DOID:2723 ! dermatitis is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:11335 name: sarcoidosis alt_id: MIM:181000 alt_id: MIM:612387 alt_id: MIM:612388 def: "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. (DO)" [http://en.wikipedia.org/wiki/Sarcoidosis "DO", http://ghr.nlm.nih.gov/glossary=sarcoidosis "DO", http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956 "DO"] synonym: "Besnier Boeck disease" EXACT [] synonym: "Besnier Boeck Schaumann Syndrome" EXACT [] synonym: "Boeck's Disease" EXACT [] synonym: "Boeck's Sarcoid" EXACT [] synonym: "Boeck Disease" EXACT [] synonym: "Boeck Sarcoid" EXACT [] synonym: "Boecks Disease" EXACT [] synonym: "Boecks Sarcoid" EXACT [] synonym: "lymphogranulomatosis" EXACT [] synonym: "sarcoidoses" EXACT [] synonym: "sarcoidosis, susceptibility to, 1" RELATED [] synonym: "sarcoidosis, susceptibility to, 2" RELATED [] synonym: "sarcoidosis, susceptibility to, 3" RELATED [] synonym: "Schaumann's Syndrome" EXACT [] synonym: "Schaumann's syndromes" EXACT [] synonym: "Schaumann Disease" EXACT [] synonym: "Schaumann syndrome" EXACT [] synonym: "SS1" RELATED [] synonym: "SS2" RELATED [] synonym: "SS3" RELATED [] xref: EFO:0000690 xref: GARD:7607 xref: ICD10CM:D86 xref: ICD9CM:135 xref: MESH:D012507 xref: MONDO:0019338 xref: NCI:C34995 xref: ORDO:797 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2916 ! hypersensitivity reaction type IV disease [Term] id: DOID:11336 name: rhinoscleroma def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. (DO)" [http://en.wikipedia.org/wiki/Rhinoscleroma "DO", https://www.merriam-webster.com/medical/rhinoscleroma "DO"] synonym: "nasal scleroma" EXACT [] synonym: "nasal scleromas" EXACT [] synonym: "rhinoscleromas" EXACT [] xref: EFO:0007470 xref: ICD9CM:040.1 xref: MESH:D012226 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:2825 ! nose disease is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9003828 ! Klebsiella Infections is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:11337 name: Lemierre's syndrome def: "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. (DO)" [http://en.wikipedia.org/wiki/Fusobacterium_necrophorum "DO", https://www.merriam-webster.com/medical/necrobacillosis "DO"] synonym: "acute sore throat" RELATED [] synonym: "human necrobacillosis" EXACT [] synonym: "Lemierre's disease" EXACT [] synonym: "Lemierre disease" EXACT [] synonym: "Lemierres disease" EXACT [] synonym: "Lemierres syndrome" EXACT [] synonym: "Lemierre syndrome" EXACT [] synonym: "postanginal sepsis" EXACT [] xref: GARD:6882 xref: ICD9CM:040.3 xref: MESH:D057831 xref: MONDO:0015306 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:3875 ! thrombophlebitis is_a: DOID:9001724 ! Fusobacterium Infections is_a: DOID:9004130 ! Pharyngeal Diseases [Term] id: DOID:11338 name: tetanus alt_id: RDO:0006683 def: "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. (DO)" [http://en.wikipedia.org/wiki/Tetanus "DO"] synonym: "clostridial tetanus" EXACT [] synonym: "infection due to Clostridium tetani" EXACT [] xref: EFO:0005593 xref: GARD:5144 xref: ICD10CM:A35 xref: ICD9CM:037 xref: MESH:D013742 xref: NCI:C85185 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:11339 name: pneumocystosis def: "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm "DO", https://www.merriam-webster.com/dictionary/Pneumocystis%20carinii%20pneumonia#medicalDictionary "DO"] synonym: "Pneumocystis carinii Pneumonia" EXACT [] synonym: "Pneumocystis jirovecii pneumonia" EXACT [] synonym: "Pneumocystis pneumonia" EXACT [] synonym: "Pneumocystis Pneumonias" EXACT [] synonym: "Pneumocystoses" EXACT [] synonym: "Pneumocystosis pneumonia" EXACT [] synonym: "Pneumonia, Interstitial Plasma Cell" EXACT [] synonym: "Pneumonias, Pneumocystis carinii" EXACT [] synonym: "pulmonary pneumocystosis" EXACT [] xref: EFO:0007448 xref: GARD:4386 xref: ICD10CM:B59 xref: ICD9CM:136.3 xref: MESH:D011020 xref: NCI:C3334 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:552 ! pneumonia is_a: DOID:9005724 ! Fungal Lung Diseases is_a: DOID:9007019 ! Pneumocystis Infections [Term] id: DOID:1134 name: gingival recession def: "Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS)." [MESH:D005889] synonym: "Atrophy of Gingiva" EXACT [] synonym: "gingiva atrophies" EXACT [] synonym: "Gingiva Atrophy" EXACT [] synonym: "gingival atrophies" EXACT [] synonym: "gingival atrophy" EXACT [] synonym: "gingival recessions" EXACT [] synonym: "localized gingival recession" NARROW [] synonym: "minimal gingival recession" NARROW [] synonym: "moderate gingival recession" NARROW [] synonym: "severe gingival recession" NARROW [] xref: ICD10CM:K06.0 xref: ICD10CM:K06.01 xref: ICD9CM:523.2 xref: ICD9CM:523.24 xref: MESH:D005889 xref: MONDO:0001268 xref: NCI:C82068 is_a: DOID:1483 ! gingival disease is_a: DOID:9005858 ! Periodontal Atrophy [Term] id: DOID:11342 name: arcus senilis alt_id: MIM:107800 def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112] synonym: "Arcus Corneae" EXACT [] synonym: "arcus of cornea" EXACT [] synonym: "Corneal Arcus" EXACT [] xref: EFO:1000818 xref: ICD10CM:H18.41 xref: MESH:D001112 is_a: DOID:1237 ! corneal degeneration is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:11343 name: scleral disease def: "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717 "DO"] synonym: "sclera disease" EXACT [] synonym: "sclera diseases" EXACT [] synonym: "scleral diseases" EXACT [] xref: ICD10CM:H15 xref: MESH:D015422 xref: NCI:C79717 is_a: DOID:5614 ! eye disease [Term] id: DOID:11353 name: bladder diverticulum def: "A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK580557/ "DO", https://www.urologyhealth.org/urology-a-z/b/bladder-diverticulum "DO"] synonym: "diverticulum of bladder" EXACT [] xref: ICD10CM:N32.3 xref: ICD9CM:596.3 xref: MESH:C562406 xref: MIM:109820 xref: MONDO:0007197 xref: NCI:C160155 is_a: DOID:365 ! bladder disease is_a: DOID:9001008 ! Diverticulum [Term] id: DOID:11354 name: stone in bladder diverticulum synonym: "calculus in diverticulum of bladder" EXACT [] xref: ICD9CM:594.0 is_a: DOID:11353 ! bladder diverticulum is_a: DOID:11355 ! bladder calculus created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11355 name: bladder calculus def: "Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." [MESH:D001744] synonym: "bladder calculi" EXACT [] synonym: "Bladder Stone" EXACT [] synonym: "bladder stones" EXACT [] synonym: "Calculi of Urinary Bladder" EXACT [] synonym: "Cystolith" EXACT [] synonym: "Cystoliths" EXACT [] synonym: "Urinary Bladder Calculi" EXACT [] synonym: "Urinary Bladder Calculus" EXACT [] synonym: "Urinary Bladder Stone" EXACT [] synonym: "Urinary Bladder Stones" EXACT [] synonym: "vesical calculi" EXACT [] synonym: "vesical calculus" EXACT [] xref: EFO:1000839 xref: ICD10CM:N21.0 xref: MESH:D001744 is_a: DOID:365 ! bladder disease is_a: DOID:9590 ! lower urinary tract calculus [Term] id: DOID:11360 name: phlebotomus fever def: "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. (DO)" [http://en.wikipedia.org/wiki/Pappataci_fever "DO", https://www.britannica.com/science/pappataci-fever "DO", https://www.merriam-webster.com/dictionary/sandfly%20fever "DO"] synonym: "pappataci Fever" EXACT [] synonym: "sandfly-borne arboviral fever" EXACT [] synonym: "sandfly-borne bunyavirus fever" EXACT [] synonym: "sandfly-borne phleboviral disease" EXACT [] synonym: "sandfly Fever" EXACT [] xref: EFO:0007437 xref: ICD10CM:A93.1 xref: ICD9CM:066.0 xref: MESH:D010217 xref: MONDO:0005913 is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:11364 name: lens subluxation def: "Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS." [MESH:D007906] synonym: "Lens Dislocation" EXACT [] synonym: "Lens Dislocation and Subluxation" EXACT [] synonym: "Lens Dislocations" EXACT [] synonym: "Lens Subluxations" EXACT [] synonym: "Subluxation of lens" EXACT [ICD9CM_2006:379.32] xref: ICD10CM:H27.11 xref: ICD9CM:379.32 xref: MESH:D007906 xref: NCI:C34772 xref: RDO:0005444 is_a: DOID:110 ! lens disease [Term] id: DOID:11367 name: congenital aphakia synonym: "congenital absence of lens" EXACT [] synonym: "congenital primary aphakia" EXACT [] synonym: "CPA" EXACT [] synonym: "CPAK" EXACT [] xref: ICD10CM:Q12.3 xref: ICD9CM:743.35 xref: MESH:C537786 xref: MONDO:0012456 xref: NCI:C35172 is_a: DOID:0080015 ! physical disorder is_a: DOID:0080607 ! anterior segment dysgenesis 2 is_a: DOID:9008804 ! Aphakia [Term] id: DOID:11371 name: functional diarrhea synonym: "functional diarrhoea" EXACT [] xref: ICD10CM:K59.1 xref: ICD9CM:564.5 is_a: DOID:13250 ! diarrhea is_a: DOID:5353 ! colonic disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11372 name: megacolon def: "A colonic disease that is characterized by an abnormal dilation of the colon. (DO)" [http://en.wikipedia.org/wiki/Megacolon "DO"] synonym: "dilatation of colon" EXACT [] synonym: "megacolons" EXACT [] xref: ICD10CM:K59.39 xref: MESH:D008531 xref: NCI:C34810 is_a: DOID:5353 ! colonic disease [Term] id: DOID:11374 name: anal spasm xref: ICD10CM:K59.4 xref: ICD9CM:564.6 is_a: DOID:3128 ! anus disease [Term] id: DOID:11379 name: gnathomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm "DO"] synonym: "gnathostoma infection" EXACT [] synonym: "gnathostoma infections" EXACT [] synonym: "gnathostomiases" EXACT [] synonym: "gnathostomiasis" EXACT [] synonym: "infectious disease by gnathostoma" EXACT [] xref: EFO:0007289 xref: GARD:9286 xref: ICD10CM:B83.1 xref: ICD9CM:128.1 xref: MESH:D058429 xref: NCI:C128395 is_a: DOID:9003105 ! Spirurida Infections [Term] id: DOID:1138 name: spinal meningioma synonym: "spinal cord meningioma" EXACT [] xref: GARD:10264 xref: MONDO:0001275 xref: NCI:C6935 is_a: DOID:1140 ! spinal canal and spinal cord meningioma is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:11382 name: corneal neovascularization def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." [MESH:D016510] synonym: "Corneal Angiogenesis" EXACT [] synonym: "Corneal Neovascularizations" EXACT [] xref: EFO:1000880 xref: ICD10CM:H16.4 xref: ICD9CM:370.6 xref: MESH:D016510 xref: MONDO:0006713 is_a: DOID:10124 ! corneal disease is_a: DOID:4677 ! keratitis is_a: DOID:9002493 ! Ocular Neovascularization [Term] id: DOID:11383 name: cryptorchidism alt_id: MIM:219050 def: "A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis." [MESH:D003456] synonym: "Abdominal Cryptorchidism" EXACT [] synonym: "Bilateral Cryptorchidism" EXACT [] synonym: "Cryptorchidism, Unilateral Or Bilateral" EXACT [] synonym: "Cryptorchism" EXACT [] synonym: "Inguinal Cryptorchidism" EXACT [] synonym: "Undescended Testes" EXACT [] synonym: "undescended testicle" EXACT [] synonym: "undescended testicles" EXACT [] synonym: "Undescended Testis" EXACT [] synonym: "Unilateral Cryptorchidism" EXACT [] xref: EFO:0004562 xref: ICD10CM:Q53.9 xref: ICD9CM:752.51 xref: MESH:D003456 xref: NCI:C12326 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:2519 ! testicular disease [Term] id: DOID:11385 name: expressive language disorder def: "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. (DO)" [http://en.wikipedia.org/wiki/Expressive_language_disorder "DO"] synonym: "Developmental expressive language disorder" EXACT [SNOMEDCT_2005_07_31:268734000] xref: ICD10CM:F80.1 xref: ICD9CM:315.31 xref: NCI:C92562 xref: RDO:9003879 is_a: DOID:93 ! language disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11387 name: epidural abscess def: "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm "DO"] synonym: "cranial epidural abscess" EXACT [] synonym: "Cranial Extradural Abscess" EXACT [] synonym: "Extradural Abscess" EXACT [] synonym: "Intracranial Epidural Abscess" EXACT [] synonym: "Intracranial Extradural Abscess" EXACT [] synonym: "spinal epidural abscess" EXACT [] synonym: "spinal extradural abscess" EXACT [] xref: EFO:0007260 xref: MESH:D020802 xref: MONDO:0005752 is_a: DOID:319 ! spinal cord disease is_a: DOID:9000325 ! Abscess is_a: DOID:9006960 ! Perimeningeal Infections [Term] id: DOID:11389 name: subdural empyema def: "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. (DO)" [https://en.wikipedia.org/wiki/Subdural_empyema "DO"] synonym: "subdural abscess" EXACT [] synonym: "subdural abscess, intracranial" EXACT [] synonym: "subdural empyemas" EXACT [] xref: EFO:1001196 xref: MESH:D013354 xref: MONDO:0006984 is_a: DOID:9004425 ! Empyema is_a: DOID:9006960 ! Perimeningeal Infections [Term] id: DOID:11390 name: cerebral arteritis xref: ICD9CM:437.4 is_a: DOID:525 ! central nervous system vasculitis created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:11394 name: adult respiratory distress syndrome def: "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. (DO)" [https://www.merriam-webster.com/dictionary/adult%20respiratory%20distress%20syndrome#medicalDictionary "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/ "DO"] synonym: "Acute Respiratory Distress Syndrome" EXACT [] synonym: "adult RDS" EXACT [] synonym: "ARDS" EXACT [] synonym: "ARDSs, Human" EXACT [] synonym: "Human ARDS" EXACT [] synonym: "non-cardiogenic pulmonary edema" EXACT [] synonym: "Shock Lung" EXACT [] xref: EFO:1000637 xref: GARD:5698 xref: ICD10CM:J80 xref: MESH:D012128 xref: NCI:C3353 is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome [Term] id: DOID:11396 name: pulmonary edema def: "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. (DO)" [PMID:11357010 "DO"] synonym: "Pulmonary Edemas" EXACT [] synonym: "Wet Lung" EXACT [] synonym: "Wet Lungs" EXACT [] xref: EFO:1001134 xref: ICD10CM:J81 xref: ICD10CM:J81.1 xref: MESH:D011654 xref: MONDO:0006932 xref: NCI:C26868 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:114 name: heart disease def: "A cardiovascular system disease that involves the heart. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO"] synonym: "Abnormal cardiac atrium morphology" NARROW [] synonym: "cardiac disease" EXACT [] synonym: "cardiac diseases" EXACT [] synonym: "heart diseases" EXACT [] xref: EFO:0003777 xref: HP:0005120 xref: ICD10CM:I51.9 xref: ICD9CM:429.9 xref: MESH:D006331 xref: MONDO:0005267 xref: NCI:C3079 is_a: DOID:0060118 ! thoracic disease is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:1140 name: spinal canal and spinal cord meningioma xref: NCI:C5134 is_a: DOID:3565 ! meningioma is_a: DOID:5612 ! spinal cancer [Term] id: DOID:11400 name: pyelonephritis def: "Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." [MESH:D011704] synonym: "Necrotizing Pyelonephritis" EXACT [] synonym: "Pyelonephritis, Acute Necrotizing" EXACT [] xref: EFO:1001141 xref: ICD10CM:N16 xref: ICD9CM:590.80 xref: MESH:D011704 xref: MONDO:0006939 xref: NCI:C34965 is_a: DOID:1063 ! interstitial nephritis is_a: DOID:2744 ! pyelitis [Term] id: DOID:11401 name: xanthogranulomatous pyelonephritis def: "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." [MESH:D011705] synonym: "Xanthogranulomatous Pyelonephritides" EXACT [] xref: EFO:1001244 xref: MESH:D011705 xref: NCI:C123038 is_a: DOID:1076 ! chronic pyelonephritis is_a: DOID:11400 ! pyelonephritis [Term] id: DOID:11405 name: diphtheria def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. (DO)" [http://en.wikipedia.org/wiki/Diphtheria "DO"] synonym: "corynebacterium infection" EXACT [] synonym: "diphtherias" EXACT [] xref: EFO:0005549 xref: GARD:1875 xref: MESH:D004165 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003413 ! Corynebacterium Infections [Term] id: DOID:11406 name: choroiditis def: "Inflammation of the choroid." [MESH:D002833] synonym: "choroiditides" EXACT [] xref: GARD:6062 xref: ICD10CM:H30.9 xref: MESH:D002833 is_a: DOID:12574 ! posterior uveitis is_a: DOID:1417 ! choroid disease [Term] id: DOID:1142 name: alternating exotropia xref: ICD10CM:H50.15 xref: ICD9CM:378.15 xref: MONDO:0001281 is_a: DOID:1143 ! exotropia created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11424 name: fallopian tube endometriosis def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] synonym: "endometriosis of fallopian tube" EXACT [] xref: ICD10CM:N80.2 xref: ICD9CM:617.2 xref: NCI:C26763 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11427 name: endosalpingiosis def: "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Endosalpingiosis "DO"] xref: NCI:C179646 xref: NCI:C40121 is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11428 name: endometriosis of intestine def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/ "DO"] xref: ICD10CM:N80.5 xref: ICD9CM:617.5 xref: MONDO:0001284 is_a: DOID:289 ! endometriosis is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11429 name: endometriosis of pelvic peritoneum def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] xref: ICD10CM:N80.3 xref: ICD9CM:617.3 is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:1143 name: exotropia def: "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." [MESH:D005099] synonym: "CONCOMITANT EXOTROPIA" NARROW [] synonym: "divergent concomitant strabismus" EXACT [] synonym: "divergent strabismus" EXACT [] synonym: "exodeviation" EXACT [] synonym: "exodeviations" EXACT [] synonym: "exophoria" EXACT [] synonym: "primary exotropia" EXACT [] synonym: "secondary exotropia" EXACT [] xref: ICD10CM:H50.1 xref: ICD9CM:378.1 xref: MESH:D005099 xref: NCI:C34601 is_a: DOID:540 ! strabismus [Term] id: DOID:11430 name: endometriosis in scar of skin def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] xref: ICD10CM:N80.6 xref: ICD9CM:617.6 is_a: DOID:289 ! endometriosis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11431 name: endometriosis of rectovaginal septum and vagina def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] xref: ICD10CM:N80.4 xref: ICD9CM:617.4 is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11432 name: endometriosis of ovary def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] synonym: "ovarian endometriosis" EXACT [] xref: EFO:1000418 xref: ICD10CM:N80.1 xref: ICD9CM:617.1 xref: NCI:C27628 is_a: DOID:1100 ! ovarian disease is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11446 name: sciatic neuropathy def: "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" [MESH:D020426] synonym: "Sciatic Inflammatory Neuropathy" RELATED [] synonym: "Sciatic Nerve Disease" EXACT [] synonym: "sciatic nerve diseases" EXACT [] synonym: "Sciatic Nerve Injuries" EXACT [] synonym: "Sciatic Nerve Injury" EXACT [] synonym: "Sciatic Nerve Neuralgia-Neuritides" EXACT [] synonym: "Sciatic Nerve Neuralgia-Neuritis" EXACT [] synonym: "Sciatic Nerve Palsies" EXACT [] synonym: "Sciatic Nerve Palsy" EXACT [] synonym: "Sciatic Neuritides" EXACT [] synonym: "Sciatic Neuritis" EXACT [] synonym: "sciatic neuropathies" EXACT [] xref: EFO:1001166 xref: MESH:D020426 is_a: DOID:12528 ! lesion of sciatic nerve [Term] id: DOID:11450 name: allergic cutaneous vasculitis def: "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. (DO)" [https://medlineplus.gov/ency/article/000874.htm "DO"] synonym: "allergic cutaneous angiitides" EXACT [] synonym: "Allergic Cutaneous Angiitis" EXACT [] synonym: "allergic cutaneous vasculitides" EXACT [] synonym: "autoimmune hypersensitivity angiitis" EXACT [] synonym: "Cutaneous Leukocytoclastic Angiitides" EXACT [] synonym: "Cutaneous Leukocytoclastic Angiitis" EXACT [] synonym: "Cutaneous Leukocytoclastic Vasculitides" EXACT [] synonym: "cutaneous leukocytoclastic vasculitis" EXACT [] synonym: "hypersensitivity angiitides" EXACT [] synonym: "hypersensitivity angiitis" EXACT [] xref: MESH:D018366 is_a: DOID:37 ! skin disease is_a: DOID:9809 ! hypersensitivity vasculitis [Term] id: DOID:11452 name: perinatal jaundice due to hepatocellular damage xref: EFO:1000750 xref: ICD9CM:774.4 is_a: DOID:2383 ! neonatal jaundice created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11457 name: brain compression def: "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. (DO)" [https://en.wikipedia.org/wiki/Brain_herniation "DO"] synonym: "cerebellar compression" NARROW [] synonym: "cerebral compression" NARROW [] xref: ICD10CM:G93.5 xref: ICD9CM:348.4 is_a: DOID:9000998 ! Brain Injuries is_a: DOID:9005214 ! Anatomical Pathological Conditions is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-01-30T00:00:00Z [Term] id: DOID:11459 name: pseudotumor cerebri alt_id: MIM:243200 def: "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." [MESH:D011559] synonym: "benign intracranial hypertension" EXACT [] synonym: "idiopathic intracranial hypertension" EXACT [] xref: EFO:1001132 xref: GARD:4561 xref: ICD10CM:G93.2 xref: ICD9CM:348.2 xref: MESH:D011559 xref: NCI:C85035 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9428 ! intracranial hypertension [Term] id: DOID:11465 name: autonomic nervous system disease def: "A peripheral nervous system disease that is located_in the autonomic nervous system. (DO)" [PMID:27339825 "DO"] synonym: "ANS (autonomic nervous system) diseases" EXACT [] synonym: "ANS Disease" EXACT [] synonym: "ANS diseases" EXACT [] synonym: "Autonomic Central Nervous System Diseases" EXACT [] synonym: "Autonomic Disease" EXACT [] synonym: "Autonomic Diseases" EXACT [] synonym: "autonomic nervous system diseases" EXACT [] synonym: "autonomic nervous system disorder" EXACT [] synonym: "Autonomic Nervous System Disorders" EXACT [] synonym: "AUTONOMIC NERVOUS SYSTEM DYSFUNCTION" EXACT [] synonym: "Autonomic Peripheral Nervous System Diseases" EXACT [] synonym: "Disorders of the Autonomic Nervous System" EXACT [] synonym: "parasympathetic nervous system diseases" EXACT [] synonym: "segmental autonomic dysfunction" EXACT [] synonym: "sympathetic nervous system diseases" EXACT [] xref: EFO:0009532 xref: ICD9CM:337.1 xref: MESH:D001342 xref: MONDO:0001292 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:11472 name: subglottis cancer synonym: "Ca larynx - subglottis" EXACT [] synonym: "malignant subglottic tumor" EXACT [] synonym: "malignant tumor of subglottis" EXACT [SNOMEDCT_2005_07_31:363430007] xref: ICD10CM:C32.2 xref: ICD9CM:161.2 xref: NCI:C3546 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:11476 name: osteoporosis def: "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)" [http://en.wikipedia.org/wiki/Osteoporosis "DO", http://www.mayoclinic.com/health/osteoporosis/DS00128 "DO", http://www.niams.nih.gov/Health_Info/Bone/default.asp "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm "DO"] synonym: "age-related bone loss" EXACT [] synonym: "age-related bone losses" EXACT [] synonym: "age-related osteoporoses" EXACT [] synonym: "age related osteoporosis" EXACT [] synonym: "CALCR-RELATED CONDITION" NARROW [] synonym: "fracture, hip, susceptibility to" RELATED [] synonym: "involutional osteoporosis" EXACT [] synonym: "LRP5-RELATED PRIMARY OSTEOPOROSIS" NARROW [] synonym: "Osteoporoses" EXACT [] synonym: "OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO" RELATED [] synonym: "OSTEOPOROSIS, SUSCEPTIBILITY TO" RELATED [] synonym: "post-traumatic osteoporoses" EXACT [] synonym: "post-traumatic osteoporosis" EXACT [] synonym: "senile osteoporoses" EXACT [] synonym: "senile osteoporosis" EXACT [] synonym: "WNT1-RELATED CONDITION" BROAD [] synonym: "X-linked osteoporosis with fractures" NARROW [] xref: EFO:0003882 xref: ICD10CM:M81.0 xref: ICD9CM:733.0 xref: MESH:D010024 xref: MIM:166710 xref: MONDO:0005298 xref: NCI:C3298 is_a: DOID:0080011 ! bone resorption disease is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:1148 name: polydactyly def: "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. (DO)" [https://en.wikipedia.org/wiki/Polydactyly "DO"] synonym: "hyperdactyly" EXACT [] synonym: "polydactylia" EXACT [] synonym: "polydactylias" EXACT [] synonym: "polydactylies" EXACT [] synonym: "polydactylism" EXACT [] synonym: "supernumerary digit" RELATED [] xref: GARD:4410 xref: ICD10CM:Q69 xref: ICD9CM:755.0 xref: MESH:D017689 xref: MIM:603596 xref: MONDO:0021003 xref: NCI:C87110 is_a: DOID:0080015 ! physical disorder is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:11481 name: constrictive pericarditis def: "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." [MESH:D010494] synonym: "Constrictive Pericarditides" EXACT [] synonym: "Heart Pick's Disease" EXACT [] synonym: "Pick's Disease of Heart" EXACT [] synonym: "Pick Disease, Heart" EXACT [] synonym: "Pick Disease of Heart" EXACT [] synonym: "Picks Disease, Heart" EXACT [] xref: EFO:1000878 xref: ICD9CM:423.2 xref: MESH:D010494 xref: NCI:C78246 is_a: DOID:1787 ! pericarditis [Term] id: DOID:11482 name: hemopericardium def: "A pericardial effusion that results from blood in the pericardial sac. (DO)" [http://en.wikipedia.org/wiki/Hemopericardium "DO"] synonym: "haemopericardium" EXACT [] xref: EFO:0007298 xref: ICD9CM:423.0 xref: MONDO:0005783 xref: NCI:C111644 is_a: DOID:118 ! pericardial effusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11486 name: Horner's syndrome alt_id: MIM:143000 def: "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. (DO)" [PMID:14610154 "DO"] synonym: "Acquired Horner Syndrome" EXACT [] synonym: "Bernard's Syndrome" EXACT [] synonym: "Bernard Horner syndrome" EXACT [] synonym: "Bernards Syndrome" EXACT [] synonym: "Bernard Syndrome" EXACT [] synonym: "Bernard Syndromes" EXACT [] synonym: "Central Horner Syndrome" EXACT [] synonym: "cervical sympathetic paralysis" EXACT [] synonym: "Claude Bernard Horner Syndrome" EXACT [] synonym: "Horners Syndrome" EXACT [] synonym: "Horners Syndrome, Pupil" EXACT [] synonym: "Horner syndrome" EXACT [] synonym: "Horner Syndrome, Pupil" EXACT [] synonym: "Miosis, Innervational Defect" EXACT [] synonym: "Oculosympathetic Syndrome" EXACT [] synonym: "Oculosympathetic Syndromes" EXACT [] synonym: "Ptosis Sympathetic" EXACT [] synonym: "Pupil Horner's Syndrome" EXACT [] synonym: "Sympathetic Ocular Ophthalmoplegia" EXACT [] synonym: "Sympathetic Ocular Ophthalmoplegias" EXACT [] xref: GARD:6670 xref: ICD10CM:G90.2 xref: MESH:D006732 xref: NCI:C28155 is_a: DOID:11504 ! autonomic neuropathy is_a: DOID:225 ! syndrome is_a: DOID:9003165 ! Miosis [Term] id: DOID:11488 name: idiopathic peripheral autonomic neuropathy xref: ICD10CM:G90.0 xref: ICD9CM:337.0 is_a: DOID:11465 ! autonomic nervous system disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:11491 name: acquired night blindness def: "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. (DO)" [https://en.wikipedia.org/wiki/Nyctalopia "DO", https://en.wikipedia.org/wiki/Vitamin_A_deficiency "DO", PMID:25804276 "DO"] xref: ICD10CM:H53.62 xref: ICD9CM:368.62 is_a: DOID:5113 ! nutritional deficiency disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:115 name: cardiac tamponade def: "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. (DO)" [http://en.wikipedia.org/wiki/Cardiac_tamponade "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm "DO"] synonym: "cardiac tamponades" EXACT [] synonym: "Pericardial Tamponade" EXACT [] synonym: "pericardial tamponades" EXACT [] synonym: "Rose's tamponade" EXACT [] xref: EFO:1001285 xref: ICD10CM:I31.4 xref: ICD9CM:423.3 xref: MESH:D002305 xref: NCI:C50481 is_a: DOID:118 ! pericardial effusion [Term] id: DOID:11502 name: mitral valve insufficiency def: "Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation." [MESH:D008944] synonym: "congenital insufficiency of mitral valve" EXACT [] synonym: "congenital mitral insufficiency" EXACT [] synonym: "congenital mitral malformation" EXACT [] synonym: "congenital mitral regurgitation" EXACT [] synonym: "mitral incompetence" EXACT [] synonym: "mitral insufficiency" EXACT [] synonym: "mitral regurgitation" EXACT [] synonym: "mitral valve incompetence" EXACT [] synonym: "mitral valve regurgitation" EXACT [] xref: EFO:0009539 xref: ICD10CM:Q23.3 xref: ICD9CM:396.3 xref: ICD9CM:746.6 xref: MESH:D008944 xref: NCI:C50852 xref: NCI:C50888 is_a: DOID:61 ! mitral valve disease [Term] id: DOID:11503 name: diabetic autonomic neuropathy synonym: "diabetic autonomic neuropathies" EXACT [] xref: MONDO:0001299 xref: NCI:C27068 is_a: DOID:11504 ! autonomic neuropathy is_a: DOID:9743 ! diabetic neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11504 name: autonomic neuropathy xref: NCI:C27033 is_a: DOID:11465 ! autonomic nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11506 name: suppurative otitis media def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false "DO"] synonym: "otitis media with effusion - purulent" EXACT [] synonym: "Purulent Otitis Media" EXACT [] xref: EFO:0007503 xref: ICD10CM:H66.4 xref: ICD9CM:382.4 xref: MESH:D010035 is_a: DOID:10754 ! otitis media is_a: DOID:9005889 ! Suppuration [Term] id: DOID:11507 name: rumination disorder alt_id: MESH:D019959 def: "An eating disorder that is characterized by effortless regurgitation of most meals following consumption. (DO)" [http://en.wikipedia.org/wiki/Rumination_syndrome "DO"] synonym: "childhood eating and feeding disorders" EXACT [] synonym: "Feeding and Eating Disorders of Childhood" EXACT [] synonym: "psychogenic rumination" EXACT [] synonym: "rumination disorders" EXACT [] xref: GARD:7594 xref: ICD9CM:307.53 xref: MESH:D000079562 xref: NCI:C92567 is_a: DOID:8670 ! eating disorder [Term] id: DOID:11512 name: Budd-Chiari syndrome def: "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. (DO)" [PMID:16971261 "DO"] synonym: "BDCHS" EXACT [] synonym: "Chiari's syndrome" EXACT [] synonym: "Chiaris syndrome" EXACT [] synonym: "Chiari syndrome" EXACT [] synonym: "hepatic vein thrombosis" EXACT [] synonym: "hepatic venous outflow obstruction" EXACT [] synonym: "membranous obstruction of inferior vena cava" NARROW [] synonym: "MOVC" NARROW [] xref: EFO:1000966 xref: ICD10CM:I82.0 xref: MESH:D006502 xref: MIM:600880 xref: MONDO:0010947 is_a: DOID:225 ! syndrome is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:11514 name: fissured tongue alt_id: MESH:C564239 def: "The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE." [MESH:D014063] synonym: "congenital fissure of tongue" EXACT [] synonym: "congenital plicated tongue" EXACT [] synonym: "fissured tongues" EXACT [] synonym: "fissure of tongue" EXACT [] synonym: "Furrowed Tongue" EXACT [] synonym: "Furrowed Tongues" EXACT [] synonym: "geographic tongue and fissured tongue" EXACT [] synonym: "Lingua Plicata" EXACT [] synonym: "Lingua Plicatas" EXACT [] synonym: "plicated tongue" EXACT [] synonym: "scrotal tongue" EXACT [] synonym: "scrotal tongues" EXACT [] xref: ICD10CM:K14.5 xref: ICD9CM:529.5 xref: MESH:D014063 is_a: DOID:10944 ! tongue disease [Term] id: DOID:11516 name: hypertensive heart disease def: "A heart disease that is caused by high blood pressure. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO", http://en.wikipedia.org/wiki/Hypertensive_heart_disease "DO"] xref: ICD10CM:I11 xref: ICD9CM:402 xref: MONDO:0001302 xref: NCI:C157879 is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11518 name: abnormal pupillary function synonym: "abnormal pupillary functions" EXACT [] xref: ICD10CM:H57.09 xref: ICD9CM:379.49 is_a: DOID:238 ! pupil disease [Term] id: DOID:11520 name: benign hypertensive renal disease synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [ICD9CM_2006:403.10] xref: ICD9CM:403.1 xref: RDO:9003035 is_a: DOID:1073 ! renal hypertension created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11527 name: laryngostenosis def: "Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty depend on the degree of laryngeal narrowing." [MESH:D007829] synonym: "acquired laryngeal stenoses" EXACT [] synonym: "Acquired Laryngeal Stenosis" EXACT [] synonym: "Acquired Subglottic Stenoses" EXACT [] synonym: "Acquired Subglottic Stenosis" EXACT [] synonym: "Congenital Subglottic Stenoses" EXACT [] synonym: "Congenital Subglottic Stenosis" EXACT [] synonym: "Laryngeal Stenoses" EXACT [] synonym: "Laryngeal Stenosis" EXACT [] synonym: "laryngostenoses" EXACT [] synonym: "stenosis of larynx" EXACT [] xref: ICD10CM:J38.6 xref: ICD9CM:478.74 xref: MESH:D007829 xref: NCI:C79608 is_a: DOID:786 ! laryngeal disease is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:11541 name: recurrent corneal erosion synonym: "recurrent erosion of cornea" EXACT [] synonym: "recurrent erosion syndrome" EXACT [] xref: ICD10CM:H18.83 xref: ICD9CM:371.42 is_a: DOID:1237 ! corneal degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11543 name: corneal abscess xref: ICD10CM:H16.31 xref: ICD9CM:370.55 xref: NCI:C26969 is_a: DOID:9858 ! deep keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11547 name: corneal deposit synonym: "cornea deposits" EXACT [] xref: ICD10CM:H18.00 xref: ICD9CM:371.10 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11549 name: Adie syndrome alt_id: MESH:C531601 alt_id: MIM:103100 def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. (DO)" [http://en.wikipedia.org/wiki/Adie_syndrome "DO", http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm "DO", https://www.merriam-webster.com/medical/Adie's%20syndrome "DO"] synonym: "Adie's pupil or syndrome" EXACT [] synonym: "Adie's pupil syndrome" EXACT [] synonym: "Adie's syndrome" EXACT [] synonym: "Holmes Adie syndrome" EXACT [] synonym: "poorly reacting pupil" EXACT [] synonym: "poorly reacting pupils" EXACT [] synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" EXACT [] xref: EFO:0004126 xref: GARD:5749 xref: MESH:D000270 xref: NCI:C34357 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:562 ! third cranial nerve disease is_a: DOID:9008776 ! Tonic Pupil [Term] id: DOID:11550 name: oculomotor nerve paralysis synonym: "III nerve palsy" EXACT [] synonym: "IIIrd nerve Paralysis" EXACT [] synonym: "Third cranial nerve paralysis" EXACT [] xref: ICD10CM:H49.0 xref: NCI:C27597 is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:11552 name: Bowman's membrane folds or rupture synonym: "Bowman membrane folds or rupture" EXACT [] xref: ICD10CM:H18.31 xref: ICD9CM:371.31 xref: MONDO:0001310 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11554 name: Chandler syndrome def: "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. (DO)" [https://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome "DO"] synonym: "Chandler's syndrome" EXACT [] synonym: "Chandlers syndrome" EXACT [] synonym: "endothelial corneal dystrophy" EXACT [] synonym: "posterior membrane corneal dystrophy" EXACT [] xref: MONDO:0020369 is_a: DOID:9003072 ! Iridocorneal Endothelial Syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:11555 name: Fuchs' endothelial dystrophy def: "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. (DO)" [http://en.wikipedia.org/wiki/Fuchs%27_dystrophy "DO", http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy "DO", http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956 "DO"] synonym: "FCED" EXACT [] synonym: "Fuch's endothelial dystrophy" EXACT [] synonym: "Fuch endothelial dystrophy" EXACT [] synonym: "Fuchs atrophy" EXACT [] synonym: "Fuchs corneal dystrophy" EXACT [] synonym: "Fuchs dystrophy" EXACT [] synonym: "Fuchs endothelial corneal dystrophy" EXACT [] xref: EFO:0003946 xref: GARD:10018 xref: ICD10CM:H18.51 xref: MESH:D005642 xref: MIM:PS136800 xref: MONDO:0005321 xref: NCI:C84721 xref: ORDO:98974 is_a: DOID:0060443 ! corneal endothelial dystrophy [Term] id: DOID:11557 name: acute serous otitis media def: "A acute transudative otitis media with thin, watery and sterile effusion. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"] synonym: "acute non-suppurative otitis media - serous" EXACT [] xref: ICD10CM:H65.0 xref: ICD9CM:381.01 xref: MONDO:0001312 is_a: DOID:3697 ! acute transudative otitis media [Term] id: DOID:11558 name: acute allergic serous otitis media def: "A acute serous otitis media caused by an allergen. (DO)" [PMID:15301306 "DO"] xref: ICD9CM:381.04 is_a: DOID:11557 ! acute serous otitis media is_a: DOID:1205 ! allergic disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1156 name: chondrocalcinosis def: "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. (DO)" [http://en.wikipedia.org/wiki/Chondrocalcinosis "DO", http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx "DO", http://www.mayoclinic.com/health/pseudogout/DS00717 "DO", http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm "DO", http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp "DO"] synonym: "Calcium Pyrophosphate Deposition Disease" EXACT [] synonym: "Calcium Pyrophosphate Dihydrate Deposition" EXACT [] synonym: "chondrocalcinoses" EXACT [] synonym: "pseudogout" EXACT [] xref: ICD9CM:712.1 xref: MESH:D002805 xref: NCI:C34955 xref: ORDO:1416 is_a: DOID:848 ! arthritis is_a: DOID:9005593 ! Crystal Arthropathies [Term] id: DOID:11561 name: hypertensive retinopathy def: "Degenerative changes to the RETINA due to HYPERTENSION." [MESH:D058437] synonym: "Hypertensive Retinopathies" EXACT [] xref: EFO:1000977 xref: ICD10CM:H35.03 xref: ICD9CM:362.11 xref: MESH:D058437 xref: MONDO:0006797 xref: NCI:C3514 is_a: DOID:10763 ! hypertension is_a: DOID:5679 ! retinal disease [Term] id: DOID:11563 name: retinal vasculitis def: "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. (DO)" [https://en.wikipedia.org/wiki/Retinal_vasculitis "DO"] xref: EFO:1001156 xref: ICD10CM:H35.06 xref: ICD9CM:362.18 xref: MESH:D031300 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:865 ! vasculitis [Term] id: DOID:11569 name: neurocirculatory asthenia def: "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. (DO)" [http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/ "DO"] synonym: "cardiac neuroses" EXACT [] synonym: "cardiac neurosis" EXACT [] synonym: "cardiovascular malfunction arising from mental factors" EXACT [] synonym: "cardiovascular neurosis" EXACT [] synonym: "Da Costa's syndrome" EXACT [] synonym: "Effort Syndrome" EXACT [] synonym: "hyperkinetic heart syndrome" EXACT [] synonym: "Krishaber's disease" EXACT [] synonym: "neurocirculatory asthenias" EXACT [] xref: ICD9CM:306.2 xref: MESH:D009449 is_a: DOID:2030 ! anxiety disorder is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:11572 name: listeria meningitis def: "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. (DO)" [PMID:21877182 "DO"] synonym: "Listeria Cerebritis" EXACT [] synonym: "Listeria Meningoencephalitis" EXACT [] synonym: "Listeria monocytogenes Meningitis" EXACT [] xref: EFO:1001021 xref: MESH:D008584 xref: MONDO:0006836 is_a: DOID:11573 ! listeriosis is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:11573 name: listeriosis def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm "DO"] synonym: "infection by listeria monocytogenes" EXACT [] synonym: "Listeria Infection" EXACT [] synonym: "Listeria Infections" EXACT [] synonym: "Listerioses" EXACT [] xref: EFO:0007347 xref: ICD10CM:A32 xref: ICD9CM:027.0 xref: MESH:D008088 xref: NCI:C82994 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:11574 name: streptococcal meningitis def: "A bacterial meningitis that has_material_basis_in streptococcal bacteria. (DO)" [https://medlineplus.gov/ency/article/000607.htm "DO"] xref: ICD10CM:G00.2 xref: ICD9CM:320.2 is_a: DOID:9470 ! bacterial meningitis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:11577 name: Cauda equina syndrome def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. (DO)" [http://en.wikipedia.org/wiki/Cauda_equina_syndrome "DO"] synonym: "cauda equina syndromes" EXACT [] xref: EFO:0007196 xref: GARD:10987 xref: ICD10CM:G83.4 xref: ICD9CM:344.6 xref: MESH:D000077684 xref: NCI:C35436 is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:11581 name: phlyctenulosis synonym: "phlyctenular keratoconjunctivitis" EXACT [] synonym: "strumous ophthalmia" EXACT [] xref: ICD10CM:H16.25 xref: ICD9CM:370.31 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:11589 name: Riley-Day syndrome def: "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. (DO)" [PMID:26769677 "DO"] synonym: "dominant hereditary sensory neuropathy, type 3" EXACT [] synonym: "dominant hereditary sensory neuropathy, type III" EXACT [] synonym: "DYS" EXACT [] synonym: "ELP1-related condition" BROAD [] synonym: "familial autonomic nervous dysfunction" EXACT [] synonym: "familial dysautonomia" EXACT [] synonym: "FD" EXACT [] synonym: "hereditary and autonomic neuropathy, type III" EXACT [] synonym: "hereditary sensory and autonomic neuropathy 3" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type III" EXACT [] synonym: "hereditary sensory neuropathy type 3" EXACT [] synonym: "HSAN (hereditary sensory and autonomic neuropathy) type III" EXACT [] synonym: "HSAN 3" EXACT [] synonym: "HSAN3" EXACT [] synonym: "HSAN III" EXACT [] synonym: "HSAN type III" EXACT [] synonym: "HSN-III" EXACT [] xref: ICD10CM:G90.1 xref: MESH:D004402 xref: MIM:223900 xref: MONDO:0009131 xref: NCI:C84706 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:225 ! syndrome is_a: DOID:9003171 ! Primary Dysautonomias [Term] id: DOID:1159 name: functional gastric disease xref: ICD9CM:536.8 xref: MONDO:0001318 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11593 name: bladder lateral wall cancer synonym: "Lateral Wall of bladder" EXACT [NCI2004_11_17:C12333] synonym: "lateral wall of bladder cancer" EXACT [] synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [] xref: ICD10CM:C67.2 xref: ICD9CM:188.2 xref: NCI:C12333 xref: RDO:9001946 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11594 name: ring staphyloma xref: ICD10CM:H15.85 xref: ICD9CM:379.15 xref: MONDO:0001320 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:11595 name: scleral staphyloma synonym: "Scleral ectasia" EXACT [] is_a: DOID:11343 ! scleral disease [Term] id: DOID:11599 name: Frey syndrome def: "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. (DO)" [PMID:12269550 "DO"] synonym: "auriculotemporal nerve syndrome" EXACT [] synonym: "auriculotemporal syndrome" EXACT [] synonym: "Baillarger syndrome" EXACT [] synonym: "Frey's Syndrome" EXACT [] synonym: "gustatory hyperhidroses" EXACT [] synonym: "Gustatory Hyperhidrosis" EXACT [] synonym: "gustatory sweating" EXACT [] synonym: "salivosudoriparous syndrome" EXACT [] synonym: "von Frey's Syndrome" EXACT [] synonym: "von Freys syndrome" EXACT [] synonym: "von Frey syndrome" EXACT [] xref: EFO:1000940 xref: GARD:6467 xref: MESH:D013547 xref: MIM:144100 xref: MONDO:0007753 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:9004062 ! Hyperhidrosis [Term] id: DOID:116 name: pericardium cancer synonym: "malignant neoplasm of pericardium" EXACT [] synonym: "malignant tumor of Pericardium" EXACT [NCI2004_11_17:C4567] synonym: "Pericardial tumor" EXACT [NCI2004_11_17:C4651] xref: ICD10CM:C38.0 xref: NCI:C4567 xref: NCI:C4651 xref: RDO:9002747 is_a: DOID:0050829 ! pericardium disease is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11603 name: infant gynecomastia def: "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. (DO)" [https://www.aafp.org/afp/2012/0401/p716.html "DO", PMID:28260521 "DO"] synonym: "breast engorgement in newborn" EXACT [] synonym: "neonatal gynaecomastia" EXACT [] synonym: "newborn gynecomastia" EXACT [] xref: ICD10CM:P83.4 xref: ICD9CM:778.7 xref: NCI:C117312 is_a: DOID:12698 ! gynecomastia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11608 name: fungal meningitis def: "A meningitis that has_material_basis_in a fungal infection. (DO)" [https://en.wikipedia.org/wiki/Fungal_meningitis "DO"] synonym: "fungal meningitides" EXACT [] synonym: "fungal pachymeningitides" EXACT [] synonym: "fungal pachymeningitis" EXACT [] xref: EFO:1000942 xref: MESH:D016921 is_a: DOID:9001177 ! Central Nervous System Fungal Infections is_a: DOID:9471 ! meningitis [Term] id: DOID:11612 name: polycystic ovary syndrome alt_id: MIM:184700 def: "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. (DO)" [http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome "DO", https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome "DO", PMID:20591140 "DO", PMID:28791858 "DO"] synonym: "hyperandrogenemia" EXACT [] synonym: "Multicystic ovaries" EXACT [] synonym: "PCO" EXACT [] synonym: "PCO1" EXACT [] synonym: "PCOS" EXACT [] synonym: "PCOS1" EXACT [] synonym: "Polycystic Ovarian disease" EXACT [NCI2004_11_17:C27086] synonym: "Polycystic Ovarian Syndrome" EXACT [] synonym: "Polycystic ovaries" EXACT [] synonym: "polycystic ovary" EXACT [CSP2005:2587-6111] synonym: "Polycystic Ovary Syndrome 1" EXACT [] synonym: "POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO" RELATED [] synonym: "Sclerocystic Ovarian Degeneration" EXACT [] synonym: "Sclerocystic Ovaries" EXACT [] synonym: "Sclerocystic Ovary" EXACT [] synonym: "Sclerocystic Ovary Syndrome" EXACT [] synonym: "Stein-Leventhal synd." EXACT [] synonym: "Stein Leventhal syndrome" EXACT [] xref: EFO:0000660 xref: ICD10CM:E28.2 xref: ICD9CM:256.4 xref: MESH:D011085 xref: NCI:C26862 xref: NCI:C92847 is_a: DOID:1414 ! ovarian dysfunction is_a: DOID:225 ! syndrome is_a: DOID:5119 ! ovarian cyst [Term] id: DOID:11613 name: hyperandrogenism alt_id: RDO:0003503 def: "A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION." [MESH:D017588] synonym: "hyperandrogenization syndrome" EXACT [SNOMEDCT_2005_07_31:237793004] xref: EFO:0009006 xref: MESH:D017588 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:9002128 ! Adrenogenital Syndrome is_a: DOID:9005851 ! 46, XX Disorders of Sex Development [Term] id: DOID:11615 name: penile cancer synonym: "cancer of penis" EXACT [] synonym: "Ca penis" EXACT [SNOMEDCT_2005_07_31:154536009] synonym: "malignant neoplasm of body of penis" EXACT [] synonym: "malignant penile tumor" EXACT [] synonym: "penile Ca" EXACT [SNOMEDCT_2005_07_31:93954003] synonym: "penile cancers" EXACT [] synonym: "penis cancer" EXACT [] synonym: "penis cancers" EXACT [] xref: ICD10CM:C60 xref: ICD10CM:C60.2 xref: ICD9CM:187.3 xref: ICD9CM:187.4 xref: NCI:C7547 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9003196 ! Penile Neoplasms created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:11623 name: dental pulp necrosis def: "A dental pulp disease characterized by death of the pulp tissue. (DO)" [https://www.aae.org/specialty/wp-content/uploads/sites/2/2017/07/endodonticdiagnosisfall2013.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481543/ "DO", PMID:3867505 "DO"] synonym: "dental pulp autolyses" EXACT [] synonym: "Dental Pulp Autolysis" EXACT [] synonym: "Dental Pulp Gangrene" EXACT [] synonym: "dental pulp necroses" EXACT [] synonym: "necrosis of the pulp" EXACT [] synonym: "necrotic pulp" EXACT [] synonym: "Pulp Gangrene" EXACT [] synonym: "Pulp Gangrenes" EXACT [] synonym: "Pulp Mummification" EXACT [] synonym: "Pulp Mummifications" EXACT [] synonym: "pulp necroses" EXACT [] synonym: "pulp necrosis" EXACT [] xref: ICD10CM:K04.1 xref: ICD9CM:522.1 xref: MESH:D003790 is_a: DOID:5330 ! dental pulp disease is_a: DOID:9005749 ! Necrosis [Term] id: DOID:11624 name: penile benign neoplasm xref: EFO:1001094 xref: MONDO:0021458 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:9003196 ! Penile Neoplasms [Term] id: DOID:11629 name: pelvic muscle wasting def: "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. (DO)" [PMID:27219835 "DO"] xref: ICD10CM:N81.84 xref: ICD9CM:618.83 is_a: DOID:1284 ! prolapse of female genital organ created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:11633 name: thyroid hormone resistance syndrome def: "An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels." [MESH:D018382] synonym: "generalized resistance to thyroid hormone" EXACT [] synonym: "generalized thyroid hormone resistance" EXACT [] synonym: "GRTH" EXACT [] synonym: "GTHR" EXACT [] synonym: "Refetoff DeWind DeGroot syndrome" EXACT [] synonym: "Refetoff syndrome" EXACT [] synonym: "RESISTANCE TO THYROID HORMONE" BROAD [] synonym: "RTH" BROAD [] synonym: "THRB-RELATED CONDITION" BROAD [] synonym: "thyroid hormone resistance" EXACT [] synonym: "thyroid hormone responsiveness defect" EXACT [] synonym: "thyroid hormone unresponsiveness" EXACT [] xref: MESH:D018382 xref: NCI:C131816 xref: NCI:C85191 is_a: DOID:1459 ! hypothyroidism is_a: DOID:225 ! syndrome is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:11634 name: myxedema alt_id: MIM:255900 def: "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." [MESH:D009230] synonym: "myxedemas" EXACT [] xref: EFO:1001055 xref: MESH:D009230 xref: NCI:C34834 is_a: DOID:1459 ! hypothyroidism is_a: DOID:3141 ! mucinoses [Term] id: DOID:11637 name: accommodative spasm synonym: "spasm of accommodation" EXACT [] xref: ICD10CM:H52.53 xref: ICD9CM:367.53 is_a: DOID:10034 ! eye accommodation disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11638 name: presbyopia def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305] synonym: "presbyopias" EXACT [] xref: ICD10CM:H52.4 xref: ICD9CM:367.4 xref: MESH:D011305 is_a: DOID:10034 ! eye accommodation disease is_a: DOID:9835 ! refractive error [Term] id: DOID:11650 name: bronchopulmonary dysplasia alt_id: DOID:9001403 def: "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. (DO)" [https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia "DO"] synonym: "bronchopulmonary dysplasia of newborn" EXACT [] synonym: "bronchopulmonary dysplasias" EXACT [] synonym: "Chronic lung disease of prematurity" EXACT [] synonym: "Neonatal chronic lung disease" EXACT [] synonym: "neonatal chronic respiratory disease" EXACT [] synonym: "perinatal bronchopulmonary dysplasia" EXACT [] xref: ICD10CM:P27.1 xref: MESH:D001997 xref: MONDO:0019091 xref: NCI:C90599 is_a: DOID:9000945 ! Ventilator-Induced Lung Injury is_a: DOID:9004676 ! Premature Infant Diseases created_by: mtutaj creation_date: 2023-01-30T20:27:47Z [Term] id: DOID:11653 name: conjunctival deposit xref: ICD10CM:H11.11 xref: ICD9CM:372.56 is_a: DOID:4251 ! conjunctival disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11656 name: cicatricial pemphigoid alt_id: MIM:164185 def: "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. (DO)" [http://en.wikipedia.org/wiki/Cicatricial_pemphigoid "DO", http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html "DO"] synonym: "benign mucosal pemphigoid" EXACT [] synonym: "benign mucosal pemphigoids" EXACT [] synonym: "benign mucous membrane pemphigoid" EXACT [] synonym: "benign mucous membrane pemphigoid with ocular involvement" EXACT [] synonym: "cicatricial pemphigoid with ocular involvement" EXACT [] synonym: "localised cicatricial pemphigoid" NARROW [] synonym: "mucous membrane pemphigoid" EXACT [] synonym: "Ocular Cicatricial Pemphigoid" EXACT [] synonym: "ocular cicatricial pemphigoids" EXACT [] synonym: "ocular pemphigoid" EXACT [] synonym: "ocular pemphigus" EXACT [] synonym: "vegetating cicatricial pemphigoid" NARROW [] xref: EFO:0008610 xref: EFO:0008611 xref: EFO:0008612 xref: EFO:1000680 xref: GARD:5913 xref: ICD10CM:L12.1 xref: ICD9CM:694.6 xref: ICD9CM:694.61 xref: MESH:D010390 xref: NCI:C34907 is_a: DOID:0080841 ! pemphigoid is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:1166 name: palindromic rheumatism def: "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. (DO)" [http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm "DO", http://en.wikipedia.org/wiki/Palindromic_rheumatism "DO", http://www.palindromicrheumatism.org/ "DO", https://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism "DO", https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516 "DO"] synonym: "Hench's syndrome" EXACT [] synonym: "Hench-Rosenberg syndrome" EXACT [] synonym: "palindromic rheumatism syndrome" EXACT [] xref: GARD:7304 xref: ICD10CM:M12.3 xref: ICD10CM:M12.30 xref: ICD9CM:719.3 xref: ICD9CM:719.31 xref: MESH:C538103 is_a: DOID:225 ! syndrome is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:11661 name: blue color blindness def: "A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. (DO)" [http://www.omim.org/entry/190900 "DO", ORDO:88629 "DO", PMID:2788922 "DO"] synonym: "blue colorblindness" EXACT [] synonym: "CBT" EXACT [] synonym: "COLORBLINDNESS, TRITAN" EXACT [] synonym: "COLORBLINDNESS, TRITANOPIC" EXACT [] synonym: "OPN1SW-RELATED CONDITION" EXACT [] synonym: "tritan defect" EXACT [] synonym: "tritanopia" EXACT [] xref: ICD10CM:H53.55 xref: ICD9CM:368.53 xref: MIM:190900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13399 ! color blindness [Term] id: DOID:11664 name: nephrosclerosis def: "Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA." [MESH:D009400] synonym: "Nephroscleroses" EXACT [] synonym: "renal sclerosis" EXACT [] xref: EFO:1000041 xref: GARD:7179 xref: ICD10CM:I12 xref: ICD10CM:N26.9 xref: ICD9CM:587 xref: MESH:D009400 is_a: DOID:1073 ! renal hypertension is_a: DOID:557 ! kidney disease [Term] id: DOID:11665 name: Patau syndrome synonym: "Bartholin-Patau syndrome" EXACT [] synonym: "chromosome 13 duplication" EXACT [] synonym: "chromosome 13 trisomy syndrome" EXACT [] synonym: "Complete Trisomy 13 Syndrome" EXACT [] synonym: "D1 trisomy" EXACT [] synonym: "Patau's Syndrome" EXACT [] synonym: "trisomy 13" EXACT [] synonym: "trisomy 13 syndrome" EXACT [] xref: ICD10CM:Q91.7 xref: ICD9CM:758.1 xref: MESH:C536305 xref: MESH:D000073839 xref: NCI:C101223 xref: NCI:C36529 is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:11668 name: hypopigmentation of eyelid def: "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. (DO)" [https://en.wikipedia.org/wiki/Vitiligo "DO", https://www.aafp.org/afp/1998/0601/p2695.html "DO"] xref: EFO:1000713 xref: ICD10CM:H02.73 xref: ICD9CM:374.53 is_a: DOID:530 ! eyelid disease is_a: DOID:9005660 ! Hypopigmentation created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11669 name: hypertrichosis of eyelid xref: ICD10CM:H02.86 xref: ICD9CM:374.54 is_a: DOID:420 ! hypertrichosis is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11671 name: hypotrichosis of eyelid xref: ICD10CM:H02.72 xref: ICD9CM:374.55 is_a: DOID:4535 ! hypotrichosis is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11678 name: onchocerciasis def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm "DO"] synonym: "infection by Onchocerca volvulus" EXACT [] synonym: "Onchocerca volvulus infection" EXACT [] synonym: "Onchocerciases" EXACT [] synonym: "volvulosis" EXACT [] xref: EFO:0007402 xref: GARD:7252 xref: ICD10CM:B73 xref: ICD9CM:125.3 xref: MESH:D009855 xref: NCI:C34861 is_a: DOID:1080 ! filariasis is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:1168 name: familial hyperlipidemia def: "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood. (DO)" [https://my.clevelandclinic.org/health/diseases/21656-hyperlipidemia "DO"] synonym: "familial hyperlipoproteinemia" EXACT [] synonym: "hyperlipemia" EXACT [] synonym: "hyperlipemias" EXACT [] synonym: "hyperlipidaemia" EXACT [] synonym: "hyperlipidemia" EXACT [] synonym: "lipemia" EXACT [] synonym: "lipemias" EXACT [] synonym: "lipidemia" EXACT [] synonym: "lipidemias" EXACT [] xref: ICD10CM:E78.5 xref: MESH:D006949 xref: MONDO:0001336 xref: MONDO:0021187 xref: NCI:C34707 xref: NCI:C34709 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9003370 ! Dyslipidemias [Term] id: DOID:11684 name: melanoacanthoma xref: EFO:1000733 xref: NCI:C27548 xref: RDO:9003559 is_a: DOID:6498 ! seborrheic keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11685 name: inflamed seborrheic keratosis xref: ICD10CM:L82.0 xref: ICD9CM:702.11 is_a: DOID:6498 ! seborrheic keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11693 name: acute apical periodontitis synonym: "acute apical periodontitis of pulpal origin" EXACT [] xref: ICD10CM:K04.4 xref: ICD9CM:522.4 xref: RDO:9003073 is_a: DOID:823 ! periapical periodontitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11695 name: portal vein thrombosis def: "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (DO)" [http://en.wikipedia.org/wiki/Portal_vein_thrombosis "DO"] xref: ICD10CM:I81 xref: ICD9CM:452 xref: NCI:C78565 is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9003871 ! Venous Thrombosis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:117 name: heart cancer def: "A cardiovascular cancer located_in the heart. (DO)" [http://en.wikipedia.org/wiki/Heart_cancer "DO"] synonym: "cardiac cancer" EXACT [] synonym: "cardiac cancers" EXACT [] synonym: "heart cancers" EXACT [] synonym: "malignant cardiac tumor" EXACT [] synonym: "malignant neoplasm of heart" EXACT [] xref: GARD:2619 xref: ICD9CM:164.1 xref: MESH:D006338 xref: NCI:C3081 xref: NCI:C3548 is_a: DOID:176 ! cardiovascular cancer is_a: DOID:5093 ! thoracic cancer is_a: DOID:9006547 ! Heart Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11701 name: selective IgA deficiency disease def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. (DO)" [http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO"] synonym: "Gamma-a-globulin, selective deficiency of" EXACT [] synonym: "IGAD1" EXACT [] synonym: "Iga, selective deficiency of" EXACT [] synonym: "immunoglobulin A deficiency" EXACT [] synonym: "Immunoglobulin A Deficiency 1" EXACT [] synonym: "immunoglobulin A, selective deficiency of" EXACT [] synonym: "selective IgA immunodeficiency" EXACT [] synonym: "selective immunoglobulin A deficiency" EXACT [] xref: EFO:1001929 xref: MESH:C536290 xref: MIM:137100 xref: MONDO:0001341 xref: NCI:C123434 xref: NCI:C26964 is_a: DOID:0060025 ! immunoglobulin alpha deficiency is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:11702 name: dysgammaglobulinemia def: "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. (DO)" [http://en.wikipedia.org/wiki/Dysgammaglobulinemia "DO"] synonym: "dysgammaglobulinemias" EXACT [] xref: MESH:D004406 is_a: DOID:6025 ! selective immunoglobulin deficiency disease is_a: DOID:620 ! blood protein disease [Term] id: DOID:1171 name: hyperlipoproteinemia type V def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." [MESH:D006954] synonym: "familial hyperlipoproteinemia type 5" EXACT [] synonym: "familial hyperlipoproteinemia type V" EXACT [] synonym: "Fredrickson type V lipaemia" EXACT [] synonym: "hyperchylomicronemia late onset" EXACT [] synonym: "Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial" EXACT [] synonym: "Hyperlipemia, Combined Fat And Carbohydrate Induced" EXACT [] synonym: "hyperlipidemia type V" EXACT [] synonym: "hyperlipoproteinemias type V" EXACT [] synonym: "Hyperlipoproteinemia Type 5" EXACT [] synonym: "late-onset hyperchylomicronemias" EXACT [] synonym: "Mixed Hyperlipemia" EXACT [] synonym: "Mixed Hyperlipemias" EXACT [] xref: MESH:D006954 xref: MIM:144650 xref: MONDO:0007762 xref: NCI:C35645 is_a: DOID:1168 ! familial hyperlipidemia is_a: DOID:9006599 ! Hypertriglyceridemia is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:11712 name: lipoatrophic diabetes mellitus def: "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. (DO)" [http://en.wikipedia.org/wiki/Lipoatrophic_diabetes "DO"] synonym: "FAMILIAL PARTIAL LIPODYSTROPHY 2" EXACT [] synonym: "lipoatrophic diabetes" EXACT [] xref: EFO:0007346 xref: MESH:D003923 xref: NCI:C34537 is_a: DOID:811 ! lipodystrophy is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:11713 name: diabetic angiopathy alt_id: DOID:10182 alt_id: MIM:603933 alt_id: MIM:612623 alt_id: MIM:612624 alt_id: MIM:612628 alt_id: MIM:612633 alt_id: MIM:612634 alt_id: MIM:612635 def: "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. (DO)" [https://en.wikipedia.org/wiki/Diabetic_angiopathy "DO"] synonym: "diabetic angiopathies" EXACT [] synonym: "diabetic microangiopathies" EXACT [] synonym: "Diabetic Microangiopathy" EXACT [] synonym: "diabetic neuropathy, susceptibility to" RELATED [] synonym: "diabetic nonproliferative retinopathy, susceptibility to" RELATED [] synonym: "diabetic peripheral angiopathy" EXACT [] synonym: "diabetic proliferative retinopathy, susceptibility to" RELATED [] synonym: "diabetic retinopathy, susceptibility to" RELATED [] synonym: "diabetic vascular complication" EXACT [] synonym: "diabetic vascular complications" EXACT [] synonym: "diabetic vascular disease" EXACT [] synonym: "diabetic vascular diseases" EXACT [] synonym: "diabetic vascular disorder" EXACT [] synonym: "END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO" RELATED [] synonym: "macrovascular complications of diabetes" RELATED [] synonym: "microvascular complications of diabetes, protection against" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 1" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 2" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 3" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 4" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 5" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 6" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 7" RELATED [] synonym: "MVCD1" RELATED [] synonym: "MVCD2" RELATED [] synonym: "MVCD3" RELATED [] synonym: "MVCD4" RELATED [] synonym: "MVCD5" RELATED [] synonym: "MVCD6" RELATED [] synonym: "MVCD7" RELATED [] synonym: "SUPEROXIDE DISMUTASE 2 POLYMORPHISM" RELATED [] synonym: "VEGFA-related condition" BROAD [] xref: EFO:0010977 xref: EFO:1000896 xref: ICD9CM:250.7 xref: MESH:D003925 xref: MIM:PS603933 xref: NCI:C35610 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:11714 name: gestational diabetes def: "A diabetes mellitus that manifests during pregnancy. (DO)" [PMID:26824237 "DO"] synonym: "GDM" EXACT [] synonym: "gestational diabetes mellitus" EXACT [] synonym: "GESTATIONAL DIABETES MELLITUS UNCONTROLLED" NARROW [] synonym: "maternal gestational diabetes mellitus" EXACT [] synonym: "Pregnancy-Induced Diabetes" EXACT [] xref: EFO:0004593 xref: ICD10CM:O24.4 xref: MESH:D016640 xref: NCI:C34942 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:11716 name: prediabetes syndrome def: "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. (DO)" [PMID:26280340 "DO"] synonym: "prediabetes" EXACT [] synonym: "prediabetic state" EXACT [] synonym: "prediabetic states" EXACT [] xref: EFO:1001121 xref: MESH:D011236 xref: NCI:C122685 is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:11717 name: neonatal diabetes mellitus def: "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/ "DO"] synonym: "diabetes mellitus syndrome in newborn infant" EXACT [] synonym: "FAMILIAL MONOGENIC DIABETES" BROAD [] synonym: "neonatal diabetes" EXACT [] xref: ICD10CM:P70.2 xref: ICD9CM:775.1 xref: MONDO:0016391 xref: NCI:C99248 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9351 ! diabetes mellitus created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:11718 name: antidepressant type abuse def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Antidepressant "DO"] synonym: "antidepressant use disorder" EXACT [] xref: ICD9CM:305.8 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11719 name: oculopharyngeal muscular dystrophy def: "An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy." [MESH:D039141] synonym: "oculopharyngeal dystrophy" EXACT [] synonym: "oculopharyngeal muscular dystrophies" EXACT [] synonym: "OPMD" EXACT [] synonym: "progressive muscular dystrophy, oculopharyngeal type" EXACT [] xref: MESH:D039141 xref: MIM:PS164300 xref: MONDO:0008116 xref: NCI:C84942 is_a: DOID:929 ! myopathy of extraocular muscle is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:1172 name: hyperlipoproteinemia type IV alt_id: MIM:144600 alt_id: MIM:145750 def: "A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." [MESH:D006953] synonym: "carbohydrate inducible hyperlipemia" EXACT [] synonym: "carbohydrate inducible hyperlipemias" EXACT [] synonym: "endogenous hyperlipidaemia" EXACT [] synonym: "Familial Hyperlipoproteinemia Type 4" EXACT [] synonym: "Familial Type IV Hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IV hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IV lipidaemia" EXACT [] synonym: "Fredrickson type IV lipidemia" EXACT [] synonym: "Hyper prebeta lipoproteinemia" EXACT [] synonym: "hyperprebetalipoproteinemia" EXACT [] synonym: "type IV hyperlipoproteinemias" EXACT [] synonym: "VLDL hyperlipoproteinemia" EXACT [] xref: ICD10CM:E78.1 xref: ICD9CM:272.1 xref: MESH:D006953 xref: NCI:C34711 is_a: DOID:9006599 ! Hypertriglyceridemia is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:11720 name: distal myopathy def: "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)" [https://rarediseases.org/rare-diseases/distal-myopathy/ "DO"] synonym: "distal muscle weakness" EXACT [] synonym: "distal muscular dystrophies" EXACT [] synonym: "distal muscular dystrophy" EXACT [] synonym: "distal myopathy, early-onset, autosomal dominant" EXACT [] synonym: "distal myopathy, late hereditary" EXACT [] synonym: "distal myopathy, Markesbery Griggs type" EXACT [] xref: ICD10CM:G71.09 xref: MESH:D049310 xref: MIM:PS160500 xref: NCI:C84675 xref: ORDO:399086 xref: ORDO:399096 xref: ORDO:5448 xref: ORDO:63273 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11721 name: glycogen storage disease VII alt_id: MIM:232800 alt_id: OMIA:000421 def: "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. (DO)" [https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ "DO"] synonym: "glycogenosis 7" EXACT [] synonym: "Glycogen storage disease 7" EXACT [] synonym: "glycogen storage disease type VII" EXACT [] synonym: "GSD7" EXACT [] synonym: "GSD VII" EXACT [] synonym: "muscle phosphofructokinase deficiencies" EXACT [] synonym: "Muscle Phosphofructokinase Deficiency" EXACT [] synonym: "PFKM deficiencies" EXACT [] synonym: "PFKM deficiency" EXACT [] synonym: "phosphofructokinase myopathy" EXACT [] synonym: "Tarui's disease" EXACT [] synonym: "Tarui Disease" EXACT [] synonym: "Taruis disease" EXACT [] xref: ICD10CM:E74.09 xref: MESH:D006014 xref: NCI:C118437 xref: ORDO:371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11722 name: myotonic dystrophy type 1 def: "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (DO)" [http://en.wikipedia.org/wiki/Myotonic_dystrophy "DO", http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://www.genome.gov/25521207 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1165/ "DO", MIM:160900 "DO"] synonym: "congenital myotonic dystrophies" EXACT [] synonym: "congenital myotonic dystrophy" EXACT [] synonym: "DM" EXACT [] synonym: "DM1" EXACT [] synonym: "DMPK-related condition" BROAD [] synonym: "dystrophia myotonica" EXACT [] synonym: "dystrophia myotonica 1" EXACT [] synonym: "myotonia atrophica" EXACT [] synonym: "myotonia dystrophica" EXACT [] synonym: "myotonic dystrophies" EXACT [] synonym: "myotonic dystrophy 1" EXACT [] synonym: "myotonic dystrophy of Steinert" EXACT [] synonym: "PROMM" EXACT [] synonym: "PROMM (Proximal Myotonic Myopathy)" EXACT [] synonym: "proximal myotonic myopathies" EXACT [] synonym: "proximal myotonic myopathy" EXACT [] synonym: "Ricker syndrome" EXACT [] synonym: "Steinert's disease" EXACT [] synonym: "Steinert disease" EXACT [] synonym: "Steinert myotonic dystrophy" EXACT [] synonym: "Steinert myotonic dystrophy syndrome" EXACT [] synonym: "Steinerts disease" EXACT [] xref: GARD:8310 xref: ICD10CM:G71.11 xref: ICD9CM:359.21 xref: MIM:160900 xref: MONDO:0008056 xref: NCI:C84679 xref: NCI:C84914 is_a: DOID:450 ! myotonic disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:11723 name: Duchenne muscular dystrophy def: "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)" [http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy "DO", http://www.genome.gov/19518854 "DO", MIM:300377 "DO"] synonym: "childhood pseudohypertrophic muscular dystrophy" EXACT [] synonym: "DMD" EXACT [] synonym: "Duchenne and Becker muscular dystrophy" EXACT [] synonym: "Duchenne-Becker muscular dystrophy" EXACT [] synonym: "Duchenne type progressive muscular dystrophy" EXACT [] synonym: "DYSTROPHINOPATHIES" EXACT [] synonym: "intermediate muscular dystrophy" NARROW [] synonym: "muscular dystrophy, Duchenne and Becker types" EXACT [] synonym: "muscular dystrophy, Duchenne type" EXACT [] synonym: "pseudohypertrophic muscular dystrophy" EXACT [] synonym: "pseudohypertrophic progressive muscular dystrophy, Duchenne type" EXACT [] synonym: "X-linked DMD-related dystrophinopathy" RELATED [] xref: EFO:0000429 xref: GARD:6291 xref: MESH:D020388 xref: MIM:310200 xref: MONDO:0010679 xref: NCI:C75482 xref: OMIA:001081 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11724 name: limb-girdle muscular dystrophy def: "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (DO)" [http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", http://www.ncbi.nlm.nih.gov/books/NBK1408/ "DO"] synonym: "Erb's muscular dystrophy" EXACT [] synonym: "Leyden-Mbius muscular dystrophy" EXACT [] synonym: "limb-girdle muscular dystrophies" EXACT [] synonym: "limb-girdle muscular dystrophy, dominant" NARROW [] synonym: "limb-girdle muscular dystrophy, recessive" NARROW [] synonym: "Limb-Girdle Syndrome" EXACT [] synonym: "myopathic limb-girdle syndrome" EXACT [] xref: GARD:6907 xref: ICD10CM:G71.03 xref: MESH:D049288 xref: MIM:PS609308 xref: MONDO:0016971 xref: NCI:C84828 xref: ORDO:263 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11725 name: Cornelia de Lange syndrome def: "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (DO)" [http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome "DO", http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome "DO", http://www.omim.org/entry/122470 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract "DO"] synonym: "BDLS" EXACT [] synonym: "Brachmann De Lange syndrome" EXACT [] synonym: "CDL" EXACT [] synonym: "CDLS" EXACT [] synonym: "de Lange's syndrome" EXACT [] synonym: "de Lange syndrome" EXACT [] synonym: "typus degenerativus amstelodamensis" EXACT [] synonym: "X-linked CDLS" EXACT [] xref: GARD:10109 xref: MESH:D003635 xref: MIM:PS122470 xref: NCI:C75016 xref: ORDO:199 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:11726 name: Emery-Dreifuss muscular dystrophy def: "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)" [http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy "DO"] synonym: "autosomal dominant Emery Dreifuss muscular dystrophy" NARROW [] synonym: "autosomal recessive Emery Dreifuss muscular dystrophy" NARROW [] synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" EXACT [] synonym: "benign scapuloperoneal muscular dystrophy with early contractures" EXACT [] synonym: "EDMD" EXACT [] synonym: "Emery Dreifuss syndrome" EXACT [] synonym: "Emery-Dreifuss type muscular dystrophy" EXACT [] synonym: "humeroperoneal neuromuscular disease" EXACT [] synonym: "X-linked Emery-Dreifuss muscular dystrophy" NARROW [] xref: EFO:0000463 xref: GARD:6329 xref: MESH:D020389 xref: MIM:PS310300 xref: MONDO:0016830 xref: NCI:C84685 xref: ORDO:261 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11727 name: facioscapulohumeral muscular dystrophy def: "An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)" [MESH:D020391] synonym: "facioscapulohumeral atrophies" EXACT [] synonym: "facioscapulohumeral atrophy" EXACT [] synonym: "Facio-Scapulo-Humeral Dystrophy" EXACT [] synonym: "facioscapulohumeral muscular dystrophies" EXACT [] synonym: "Facioscapulohumeral Type Progressive Muscular Dystrophy" EXACT [] synonym: "Facioscapuloperoneal Muscular Dystrophy" EXACT [] synonym: "FMD" EXACT [] synonym: "FSHD" EXACT [] synonym: "FSH muscular dystrophy" EXACT [] synonym: "Landouzy-Dejerine dystrophies" EXACT [] synonym: "Landouzy Dejerine dystrophy" EXACT [] synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [] xref: GARD:9941 xref: ICD10CM:G71.02 xref: MESH:D020391 xref: MIM:PS158900 xref: MONDO:0001347 xref: NCI:C84704 xref: ORDO:269 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11729 name: Lyme disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. (DO)" [http://www.cdc.gov/lyme/transmission/index.html "DO"] synonym: "Bannwarth syndrome" EXACT [] synonym: "Bannworth's syndrome" EXACT [] synonym: "Lyme arthritis" EXACT [] synonym: "Lyme borreliosis" EXACT [] synonym: "neuroborreliosis" EXACT [] synonym: "neurological Lyme disease" EXACT [] xref: EFO:0008510 xref: GARD:12073 xref: ICD10CM:A69.2 xref: ICD9CM:088.81 xref: MESH:D008193 xref: MONDO:0019632 xref: NCI:C45161 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004477 ! Borrelia Infections [Term] id: DOID:11736 name: odontoclasia def: "The active destruction of the deciduous teeth of children by a process that seems to differ from caries. One of its distinguishing features is that the permanent teeth are not affected. B. G. Bibby, Food and the Teeth (1990) 270:61." [] xref: ICD9CM:521.05 xref: MONDO:0001349 is_a: DOID:216 ! dental caries created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:11746 name: parametrium malignant neoplasm def: "A uterine adnexa cancer that is located_in the parametrium. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/parametrium "DO"] xref: ICD10CM:C57.3 xref: ICD9CM:183.4 is_a: DOID:11747 ! uterine adnexa cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:11747 name: uterine adnexa cancer def: "A uterine cancer that is located_in the adnexa. (DO)" [PMID:6043913 "DO"] xref: ICD10CM:C57.4 xref: ICD9CM:183 xref: ICD9CM:183.9 is_a: DOID:363 ! uterine cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:11748 name: round ligament malignant neoplasm def: "A uterine adnexa cancer that is located_in the round ligament. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC4365377/ "DO"] synonym: "malignant neoplasm of round ligament" EXACT [] synonym: "malignant neoplasm of round ligament of uterus" EXACT [] xref: ICD10CM:C57.2 xref: ICD9CM:183.5 is_a: DOID:11747 ! uterine adnexa cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11750 name: Bordetella parapertussis whooping cough def: "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. (DO)" [http://en.wikipedia.org/wiki/Pertussis "DO"] xref: ICD10CM:A37.1 xref: ICD9CM:033.1 is_a: DOID:1116 ! pertussis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11752 name: acute endophthalmitis xref: ICD9CM:360.01 xref: RDO:9003030 is_a: DOID:9724 ! purulent endophthalmitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11754 name: siderosis of eye def: "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. (DO)" [PMID:30787536 "DO", PMID:3390063 "DO"] synonym: "siderosis of globe" EXACT [] xref: ICD10CM:H44.32 xref: ICD9CM:360.23 is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11755 name: choledocholithiasis def: "A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. (DO)" [https://medlineplus.gov/ency/article/000274.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK441961/ "DO"] synonym: "biliary calculus" EXACT [] synonym: "common bile duct cholelithiasis" EXACT [] xref: EFO:1000865 xref: MESH:D042883 xref: MONDO:0006699 is_a: DOID:10211 ! cholelithiasis is_a: DOID:4137 ! common bile duct disease [Term] id: DOID:11758 name: iron deficiency anemia def: "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. (DO)" [https://medlineplus.gov/ency/article/000584.htm "DO", https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia "DO"] synonym: "iron deficiency anemias" EXACT [] xref: ICD9CM:280.8 xref: MESH:D018798 xref: MONDO:0001356 is_a: DOID:0050642 ! hypochromic microcytic anemia is_a: DOID:2351 ! iron metabolism disease is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:11759 name: hypochromic anemia def: "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. (DO)" [https://en.wikipedia.org/wiki/Hypochromic_anemia "DO"] synonym: "chloroses" EXACT [] synonym: "chlorosis" EXACT [] synonym: "hypochromic anemias" EXACT [] xref: ICD10CM:D50 xref: MESH:D000747 xref: MONDO:0001357 xref: NCI:C34380 is_a: DOID:2355 ! anemia [Term] id: DOID:1176 name: bronchial disease def: "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. (DO)" [PMID:11685087 "DO"] synonym: "bronchial diseases" EXACT [] xref: EFO:1002018 xref: MESH:D001982 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:11760 name: Kohler's disease def: "An osteochondrosis that results_in death and collapse located_in navicular bone of foot. (DO)" [http://en.wikipedia.org/wiki/K%C3%B6hler_disease "DO"] synonym: "juvenile osteochondrosis of foot" EXACT [] synonym: "Kohler disease" EXACT [] xref: GARD:6842 xref: ICD9CM:732.5 xref: MONDO:0016086 is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:11766 name: blind hypotensive eye xref: ICD9CM:360.41 xref: RDO:9004882 is_a: DOID:790 ! ocular hypotension created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11771 name: spontaneous ocular nystagmus synonym: "ocular nystagmus" EXACT [] synonym: "searching eye movements" EXACT [] synonym: "visual deprivation nystagmus" EXACT [] xref: ICD10CM:H55.03 xref: ICD9CM:379.53 xref: RDO:9004265 is_a: DOID:9650 ! pathologic nystagmus created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11772 name: leukocoria synonym: "leucocoria" EXACT [] xref: ICD10CM:H44.53 xref: ICD9CM:360.44 is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11776 name: absolute glaucoma def: "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/ "DO"] synonym: "blind hypertensive eye" EXACT [] xref: ICD9CM:360.42 is_a: DOID:1686 ! glaucoma is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11781 name: regular astigmatism xref: ICD10CM:H52.22 xref: ICD9CM:367.21 is_a: DOID:11782 ! astigmatism created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:11782 name: astigmatism alt_id: MIM:603047 def: "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. (DO)" [http://en.wikipedia.org/wiki/Astigmatism_%28eye%29 "DO"] synonym: "corneal astigmatism" NARROW [] xref: EFO:0004222 xref: EFO:1002040 xref: ICD10CM:H52.2 xref: ICD9CM:367.2 xref: MESH:D001251 is_a: DOID:9835 ! refractive error [Term] id: DOID:11783 name: necrosis of ear ossicle synonym: "partial loss or necrosis of ear ossicles" EXACT [] xref: ICD9CM:385.24 is_a: DOID:2742 ! auditory system disease is_a: DOID:5100 ! middle ear disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11786 name: splenic sequestration xref: ICD9CM:289.52 is_a: DOID:2529 ! splenic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11787 name: chronic congestive splenomegaly xref: ICD10CM:D73.2 xref: ICD9CM:289.51 xref: MONDO:0001367 is_a: DOID:2529 ! splenic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11793 name: phthisical cornea xref: ICD9CM:371.05 is_a: DOID:1237 ! corneal degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11797 name: chronic laryngitis def: "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO", http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263 "DO"] xref: ICD10CM:J37.0 xref: ICD9CM:476.0 xref: NCI:C26975 is_a: DOID:3437 ! laryngitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:118 name: pericardial effusion def: "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. (DO)" [http://en.wikipedia.org/wiki/Pericardial_effusion "DO"] synonym: "chylopericardium" EXACT [] synonym: "chylopericardiums" EXACT [] synonym: "pericardial effusions" EXACT [] xref: MESH:D010490 xref: NCI:C3319 is_a: DOID:0050829 ! pericardium disease [Term] id: DOID:11801 name: protein-energy malnutrition def: "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. (DO)" [https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition "DO"] synonym: "protein calorie malnutrition" EXACT [] synonym: "protein-energy malnutritions" EXACT [] xref: EFO:0009563 xref: ICD10CM:E46 xref: ICD9CM:263.9 xref: MESH:D011502 xref: MONDO:0001371 xref: NCI:C34952 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:9004989 ! Protein Deficiency [Term] id: DOID:11809 name: bladder neck cancer synonym: "malignant neoplasm of urinary bladder neck" EXACT [] synonym: "malignant tumor of bladder neck" EXACT [] xref: ICD10CM:C67.5 xref: ICD9CM:188.5 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11811 name: urinary bladder posterior wall cancer synonym: "malignant neoplasm of posterior wall of urinary bladder" EXACT [] xref: ICD10CM:C67.4 xref: ICD9CM:188.4 xref: MONDO:0001373 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11812 name: bladder sarcoma def: "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. (DO)" [https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas "DO"] synonym: "sarcoma of bladder" EXACT [] synonym: "sarcoma of the urinary bladder" EXACT [] xref: NCI:C4669 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11813 name: bladder trigone cancer synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [] synonym: "malignant tumor of trigone of bladder" EXACT [] synonym: "malignant tumor of trigone of urinary bladder" EXACT [] xref: ICD10CM:C67.0 xref: ICD9CM:188.0 xref: MONDO:0001375 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11814 name: urinary bladder anterior wall cancer synonym: "malignant neoplasm of anterior wall of urinary bladder" EXACT [] xref: ICD10CM:C67.3 xref: ICD9CM:188.3 xref: RDO:9001951 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11816 name: vitreous syneresis alt_id: RDO:9003048 synonym: "Vitreous degeneration" EXACT [ICD9CM_2006:379.21] xref: ICD10CM:H43.81 xref: ICD9CM:379.21 xref: RDO:9003069 is_a: DOID:9720 ! vitreous disease is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11817 name: urachus cancer synonym: "malignant tumor of urachus" EXACT [] synonym: "urachal cancer" EXACT [] synonym: "Urachal carcinoma" EXACT [] xref: GARD:7836 xref: ICD10CM:C67.7 xref: ICD9CM:188.7 xref: MESH:C536475 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11818 name: ureteral orifice cancer def: "An urinary bladder cancer located_in the ureteral orifice. (DO)" [PMID:28465130 "DO"] synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [] synonym: "malignant tumor of ureteral orifice" EXACT [] synonym: "malignant tumor of ureteric orifice" EXACT [] synonym: "ureteric orifice cancer" EXACT [] xref: ICD10CM:C67.6 xref: ICD9CM:188.6 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:11819 ! ureter cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11819 name: ureter cancer def: "A urinary system cancer that is located_in the ureter. (DO)" [http://en.wikipedia.org/wiki/Ureter_cancer "DO"] synonym: "cancer of ureter" EXACT [] synonym: "malignant tumour of ureter" EXACT [] synonym: "malignant ureteral tumor" EXACT [] synonym: "ureteral cancer" EXACT [] synonym: "ureteral cancers" EXACT [] synonym: "ureter cancers" EXACT [] xref: EFO:0003844 xref: ICD10CM:C66 xref: ICD9CM:189.2 xref: MIM:191600 xref: NCI:C7543 is_a: DOID:3996 ! urinary system cancer is_a: DOID:9003753 ! Ureteral Neoplasms created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:11820 name: bladder dome cancer synonym: "malignant neoplasm of apex of urinary bladder" EXACT [] synonym: "malignant neoplasm of dome of urinary bladder" EXACT [] synonym: "malignant tumor of vault of bladder" EXACT [] synonym: "Superior Surface of bladder" EXACT [NCI2004_11_17:C12332] synonym: "Superior Surface of bladder cancer" EXACT [] xref: ICD10CM:C67.1 xref: ICD9CM:188.1 xref: NCI:C12332 xref: RDO:9001953 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11821 name: bladder lymphoma synonym: "lymphoma of the urinary bladder" EXACT [] xref: MONDO:0001381 xref: NCI:C6164 is_a: DOID:0060058 ! lymphoma is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11823 name: hepatorenal syndrome def: "An acute kidney failure that is characterized by severe renal vasoconstriction. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470565/ "DO"] xref: GARD:6610 xref: ICD10CM:K76.7 xref: ICD9CM:572.4 xref: MESH:D006530 xref: NCI:C113400 is_a: DOID:225 ! syndrome is_a: DOID:3021 ! acute kidney failure is_a: DOID:409 ! liver disease [Term] id: DOID:11824 name: multicentric reticulohistiocytosis def: "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. (DO)" [http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis "DO", PMID:23130232 "DO"] synonym: "lipoid dermatoarthritis" EXACT [] xref: GARD:7103 xref: ICD10CM:E78.81 xref: MONDO:0015347 xref: NCI:C27896 xref: ORDO:139436 is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:4330 ! non-Langerhans-cell histiocytosis is_a: DOID:848 ! arthritis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11829 name: degenerative myopia def: "Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." [MESH:D047728] synonym: "Degenerative Myopias" EXACT [] synonym: "Pathological Myopia" EXACT [] synonym: "Pathological Myopias" EXACT [] synonym: "progressive high (degenerative) myopia" EXACT [ICD9CM_2006:360.21] synonym: "progressive high myopia" EXACT [MTHICD9_2006:360.21] synonym: "Progressive Myopia" EXACT [] synonym: "Progressive Myopias" EXACT [] xref: EFO:0004207 xref: ICD10CM:H44.2 xref: ICD9CM:360.21 xref: MESH:D047728 xref: NCI:C157149 xref: RDO:0007546 is_a: DOID:11830 ! myopia is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:11830 name: myopia def: "A refractive error characterized by the inability to see farther objects clearly. (DO)" [http://en.wikipedia.org/wiki/Myopia "DO", http://ghr.nlm.nih.gov/glossary=myopia "DO", http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548 "DO"] synonym: "myopias" EXACT [] synonym: "near-sightedness" EXACT [] synonym: "nearsightedness" EXACT [] synonym: "near vision" EXACT [] synonym: "short-sightedness" EXACT [] xref: EFO:0003927 xref: ICD10CM:H52.1 xref: ICD9CM:367.1 xref: MESH:D009216 xref: MIM:PS160700 xref: MONDO:0001384 xref: NCI:C102533 is_a: DOID:9835 ! refractive error [Term] id: DOID:11831 name: cortical blindness def: "Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)" [MESH:D019575] synonym: "Anton's Syndrome" EXACT [] synonym: "Anton Babinski syndrome" EXACT [] synonym: "Antons Syndrome" EXACT [] synonym: "Anton Syndrome" EXACT [] synonym: "Blindness, Cortical, Post-Ictal" EXACT [] synonym: "Blindness, Cortical, Transient" EXACT [] synonym: "Psychic Denial of Blindness" EXACT [] synonym: "Reversible Cortical Blindness" EXACT [] synonym: "Reversible Cortical Blindnesses" EXACT [] synonym: "Transient Anton's Syndrome" EXACT [] synonym: "Transient Antons Syndrome" EXACT [] synonym: "transient Anton syndrome" EXACT [] xref: ICD10CM:H47.61 xref: ICD9CM:377.75 xref: MESH:D019575 xref: NCI:C118707 is_a: DOID:1432 ! blindness is_a: DOID:5691 ! visual cortex disease [Term] id: DOID:11832 name: visual epilepsy def: "Visual seizures mainly present as epileptic auras, but can be simple hallucinations related with an occipital origin, or complex hallucinations associated with more anterior regions of the brain. The appearance of lateralised visual phenomena suggests an origin located in the contralateral hemisphere." [PMID:25760720] synonym: "Childhood occipital visual epilepsy" EXACT [] synonym: "COVE" EXACT [] synonym: "Gastaut syndrome" EXACT [] synonym: "idiopathic childhood occipital epilepsy, Gastaut type" EXACT [] synonym: "late onset benign occipital epilepsy" EXACT [] synonym: "Sensory Seizure" EXACT [] synonym: "Sensory Seizures" EXACT [] synonym: "Somatosensory Seizure" EXACT [] synonym: "somatosensory seizures" EXACT [] synonym: "visual seizure" EXACT [] xref: MESH:D012640 xref: MONDO:0001386 xref: NCI:C3980 is_a: DOID:1826 ! epilepsy is_a: DOID:5691 ! visual cortex disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:11836 name: clubfoot alt_id: MIM:119800 def: "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. (DO)" [http://en.wikipedia.org/wiki/Club_foot "DO", PMID:17610748 "DO"] synonym: "BILATERAL TALIPES EQUINOVARUS" NARROW [] synonym: "CCF" EXACT [] synonym: "clubfeet" EXACT [] synonym: "Congenital Clubfeet" EXACT [] synonym: "Congenital Clubfoot" EXACT [] synonym: "congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly" EXACT [] synonym: "Congenital equinovarus" EXACT [MTHICD9_2006:754.51] synonym: "Congenital Talipes Equinovarus" EXACT [] synonym: "Equinovarus" EXACT [] synonym: "Equinovarus deformity of foot" EXACT [SNOMEDCT_2005_07_31:249808002] synonym: "Idiopathic congenital talipes equinovarus" EXACT [] synonym: "pie torcido" EXACT [] synonym: "pie torcidos" EXACT [] synonym: "PITX1-RELATED CONDITION" EXACT [] synonym: "talipes equinovarus" EXACT [] xref: ICD10CM:Q66.0 xref: ICD10CM:Q66.89 xref: ICD9CM:754.51 xref: MESH:D003025 xref: NCI:C188148 xref: NCI:C84641 is_a: DOID:0080006 ! bone development disease is_a: DOID:9007152 ! Talipes [Term] id: DOID:11838 name: penis sarcoma def: "A sarcoma and malignant neoplasm of penis that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/ "DO"] synonym: "penile sarcoma" EXACT [] synonym: "sarcoma of penis" EXACT [] xref: MONDO:0001387 xref: NCI:C7730 is_a: DOID:1115 ! sarcoma is_a: DOID:11615 ! penile cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:11839 name: glans penis cancer synonym: "malignant neoplasm of glans penis" EXACT [] synonym: "malignant tumor of glans penis" EXACT [] synonym: "malignant tumour of glans penis" EXACT [] xref: ICD10CM:C60.1 xref: ICD9CM:187.2 xref: MONDO:0001388 is_a: DOID:11615 ! penile cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:1184 name: nephrotic syndrome def: "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)" [https://en.wikipedia.org/wiki/Nephrotic_syndrome "DO", https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults "DO"] synonym: "NEPHROTIC RANGE PROTEINURIA" NARROW [] synonym: "Nephrotic Syndromes" EXACT [] xref: EFO:0004255 xref: ICD9CM:581 xref: MESH:D009404 xref: NCI:C34845 is_a: DOID:225 ! syndrome is_a: DOID:2527 ! nephrosis [Term] id: DOID:11840 name: coronary artery vasospasm def: "Spasm of the large- or medium-sized coronary arteries." [MESH:D003329] synonym: "coronary artery spasm" EXACT [] synonym: "Coronary artery spasm 1, susceptibility to" NARROW [] synonym: "Coronary artery spasm 2, susceptibility to" NARROW [] synonym: "Coronary artery spasm 3, susceptibility to" NARROW [] synonym: "Coronary Artery Vasospasms" EXACT [] synonym: "Coronary Vasospasm" EXACT [] xref: EFO:0004225 xref: MESH:D003329 xref: MIM:163729 xref: MONDO:0005356 xref: NCI:C34515 is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:11843 name: coronary artery anomaly synonym: "congenital anomaly of coronary artery" EXACT [] synonym: "congenital coronary artery anomaly" EXACT [] synonym: "coronary artery abnormality" EXACT [] xref: GARD:1534 xref: ICD9CM:746.85 is_a: DOID:3393 ! coronary artery disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:11847 name: coronary thrombosis alt_id: RDO:0005278 def: "Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." [MESH:D003328] synonym: "coronary artery thrombosis" EXACT [] synonym: "coronary thromboses" EXACT [] xref: EFO:1000883 xref: ICD10CM:I22 xref: MESH:D003328 is_a: DOID:0060903 ! thrombosis is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:11850 name: transient refractive change xref: ICD9CM:367.81 xref: RDO:9004037 is_a: DOID:9835 ! refractive error created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11851 name: indeterminate leprosy def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. (DO)" [https://rarediseases.org/rare-diseases/leprosy/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/ "DO"] synonym: "uncharacteristic leprosy" EXACT [] xref: ICD10CM:A30.0 xref: ICD9CM:030.2 xref: MONDO:0001391 is_a: DOID:1024 ! leprosy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11853 name: monocular exotropia xref: ICD10CM:H50.11 xref: ICD9CM:378.11 is_a: DOID:1143 ! exotropia created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11864 name: peripheral focal chorioretinitis xref: ICD9CM:363.04 xref: RDO:9003511 is_a: DOID:1979 ! focal chorioretinitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1187 name: tibial neuropathy def: "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [MESH:D020429] synonym: "internal popliteal neuropathies" EXACT [] synonym: "Internal Popliteal Neuropathy" EXACT [] synonym: "Lateral Plantar Neuropathies" EXACT [] synonym: "Lateral Plantar Neuropathy" EXACT [] synonym: "Medial Plantar Nerve Disease" EXACT [] synonym: "Medial Plantar Neuropathies" EXACT [] synonym: "Medial Plantar Neuropathy" EXACT [] synonym: "Medial Popliteal Neuropathies" EXACT [] synonym: "Medial Popliteal Neuropathy" EXACT [] synonym: "Posterior Tibial Nerve Diseases" EXACT [] synonym: "Posterior Tibial Neuropathies" EXACT [] synonym: "Posterior Tibial Neuropathy" EXACT [] synonym: "Post-Traumatic Tibial Neuropathies" EXACT [] synonym: "Post-Traumatic Tibial Neuropathy" EXACT [] synonym: "Tibial Nerve Disease" EXACT [] synonym: "Tibial Nerve Diseases" EXACT [] synonym: "tibial neuropathies" EXACT [] xref: EFO:1001213 xref: MESH:D020429 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:11870 name: Pick's disease def: "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562226/ "DO"] synonym: "circumscribed lobar atrophy of the brain" EXACT [] synonym: "circumscribed lobar brain atrophy" EXACT [] synonym: "dementia in Pick's disease" EXACT [] synonym: "dementia with lobar atrophy and neuronal cytoplasmic inclusions" EXACT [] synonym: "Lobar Atrophy (Brain)" EXACT [] synonym: "Lobar Atrophy Of Brain" EXACT [] synonym: "Lobar Atrophy of the Brain" EXACT [] synonym: "Pick Disease" EXACT [] synonym: "Pick Disease Of Brain" EXACT [] synonym: "Pick disease of the brain" EXACT [] synonym: "Picks disease" EXACT [] synonym: "Picks disease of brain" EXACT [] xref: EFO:0003096 xref: GARD:7392 xref: ICD10CM:G31.01 xref: ICD9CM:331.11 xref: MESH:D020774 xref: MIM:172700 xref: MONDO:0008243 xref: NCI:C85008 is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:11871 name: macular keratitis xref: ICD10CM:H16.11 xref: ICD9CM:370.22 xref: MONDO:0001395 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11874 name: abnormal threshold of rods synonym: "abnormal dark adaptation curve" EXACT [ICD9CM_2006:368.63] xref: ICD10CM:H53.61 xref: ICD9CM:368.63 xref: RDO:9003333 is_a: DOID:8499 ! night blindness created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11875 name: denture stomatitis def: "Inflammation of the mouth due to denture irritation." [MESH:D013282] synonym: "Denture sore mouth" EXACT [MTHICD9_2006:528.9] synonym: "Denture Stomatitides" EXACT [] xref: EFO:1000893 xref: ICD10CM:K12.1 xref: MESH:D013282 xref: RDO:0006625 is_a: DOID:9637 ! stomatitis [Term] id: DOID:1188 name: mononeuropathy def: "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. (DO)" [https://medlineplus.gov/ency/article/000780.htm "DO"] synonym: "mononeuropathies" EXACT [] synonym: "mononeuropathy multiplex syndrome" EXACT [] synonym: "mononeuropathy multiplex syndromes" EXACT [] xref: EFO:0009558 xref: ICD10CM:G58.9 xref: MESH:D020422 xref: MONDO:0001397 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:870 ! neuropathy [Term] id: DOID:11885 name: ureteral benign neoplasm synonym: "neoplasm of ureter" EXACT [] synonym: "ureteral tumor" EXACT [] xref: NCI:C3427 is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:9003753 ! Ureteral Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:11887 name: ureter leiomyoma def: "An ureteral benign neoplasm that derives_from smooth muscle cells. (DO)" [PMID:23894911 "DO"] synonym: "ureteral leiomyoma" EXACT [] xref: NCI:C6161 is_a: DOID:11885 ! ureteral benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:11888 name: schwannoma of ureter synonym: "ureteral schwannoma" EXACT [] xref: NCI:C6162 is_a: DOID:11885 ! ureteral benign neoplasm is_a: DOID:3192 ! neurilemmoma is_a: DOID:956 ! peripheral nerve schwannoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11889 name: female breast nipple and areola cancer def: "A female breast cancer that is located_in the nipple and areola. (DO)" [PMID:22647686 "DO"] synonym: "malignant neoplasm of nipple and areola of female breast" EXACT [] synonym: "malignant neoplasm of nipple or areola of female breast" EXACT [] xref: ICD9CM:174.0 xref: MONDO:0001401 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:119 name: vaginal cancer def: "A female reproductive system cancer that is located_in the vagina. (DO)" [http://www.cancer.gov/dictionary?CdrID=523460 "DO"] synonym: "cancer of the vagina" EXACT [] synonym: "cancer of vagina" EXACT [] synonym: "malignant neoplasm of vagina" EXACT [] synonym: "malignant tumor of vagina" EXACT [] synonym: "malignant vaginal tumor" EXACT [] synonym: "vagina cancer" EXACT [] synonym: "vagina cancers" EXACT [] synonym: "vaginal cancers" EXACT [] xref: GARD:9348 xref: ICD10CM:C52 xref: ICD9CM:184.0 xref: NCI:C3437 xref: NCI:C7410 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:9006698 ! Vaginal Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11905 name: labium majus cancer def: "A vulva cancer that is located_in the labium majus. (DO)" [PMID:16006794 "DO"] synonym: "malignant neoplasm of labia majora" EXACT [] synonym: "malignant tumor of labia majora" EXACT [] xref: ICD10CM:C51.0 xref: ICD9CM:184.1 xref: NCI:C7638 is_a: DOID:1245 ! vulva cancer is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11907 name: ecthyma def: "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" [MESH:D004473] synonym: "ecthymas" EXACT [] xref: EFO:1000689 xref: MESH:D004473 is_a: DOID:4223 ! pyoderma is_a: DOID:8504 ! impetigo is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:11914 name: gastroparesis def: "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." [MESH:D018589] synonym: "gastric atonia" EXACT [] synonym: "Gastric Stases" EXACT [] synonym: "Gastric Stasis" EXACT [] synonym: "Gastroparalysis" EXACT [MTHICD9_2006:536.3] synonym: "Gastropareses" EXACT [] synonym: "gastroparesis syndrome" EXACT [] xref: EFO:1000948 xref: ICD10CM:K31.84 xref: ICD9CM:536.3 xref: MESH:D018589 xref: NCI:C80512 is_a: DOID:1159 ! functional gastric disease is_a: DOID:76 ! stomach disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:11917 name: tinea cruris def: "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. (DO)" [http://en.wikipedia.org/wiki/Tinea_cruris "DO"] synonym: "dermatophytosis of groin & perianal area" EXACT [] synonym: "dermatophytosis of groin and perianal area" EXACT [] synonym: "Dhobie itch" EXACT [] xref: ICD9CM:110.3 xref: MESH:D000084002 xref: NCI:C34535 is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:1192 name: peripheral nervous system neoplasm def: "A nervous system cancer that is located in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Peripheral_nervous_system "DO"] synonym: "neoplasm of peripheral nerve" EXACT [] synonym: "peripheral nerve neoplasm" EXACT [] synonym: "peripheral nerve neoplasms" EXACT [] synonym: "Peripheral Nerve Neoplasms, Benign" EXACT [] synonym: "Peripheral Nerve Neoplasms, Malignant" EXACT [] synonym: "Peripheral Nerve Neoplastic Infiltration" EXACT [] synonym: "Peripheral Nerve Tumor" EXACT [] synonym: "Peripheral Nerve Tumors" EXACT [] synonym: "peripheral nervous system benign neoplasms" EXACT [] synonym: "peripheral nervous system malignant neoplasms" EXACT [] synonym: "tumor of PNS" EXACT [] synonym: "tumour of cranial and spinal nerves" EXACT [] xref: EFO:0002431 xref: MESH:D010524 xref: NCI:C3321 xref: NCI:C4972 is_a: DOID:3093 ! nervous system cancer is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9006557 ! Nervous System Neoplasms [Term] id: DOID:11920 name: tracheal cancer def: "A respiratory system cancer that is located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"] synonym: "malignant neoplasm of trachea" EXACT [] synonym: "malignant tracheal tumor" EXACT [] synonym: "malignant tumor of trachea" EXACT [] xref: ICD10CM:C33 xref: ICD9CM:162.0 xref: MONDO:0001407 xref: NCI:C9346 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9003134 ! tracheal neoplasm created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:11934 name: head and neck cancer def: "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. (DO)" [http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9 "DO", http://en.wikipedia.org/wiki/Head_and_neck_cancer "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO", http://www.cancer.gov/dictionary?CdrID=257519 "DO"] synonym: "cancer of head and neck" EXACT [] synonym: "head/neck neoplasm" EXACT [] synonym: "head and neck malignant neoplasia" EXACT [] synonym: "head and neck neoplasm" EXACT [] synonym: "head and neck tumours" EXACT [] synonym: "tumor of head and neck" EXACT [] xref: EFO:0006859 xref: GARD:12425 xref: MONDO:0005627 xref: NCI:C3077 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9006169 ! Head and Neck Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11949 name: Creutzfeldt-Jakob disease alt_id: MIM:123400 def: "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))" [MESH:D007562] synonym: "CJD" EXACT [] synonym: "Creutzfeldt Jacob Disease" EXACT [] synonym: "Creutzfeldt Jacob syndrome" EXACT [] synonym: "CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC" NARROW [] synonym: "CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT" NARROW [] synonym: "CREUTZFELDT-JAKOB DISEASE, VARIANT" NARROW [] synonym: "Creutzfeldt-Jakob syndrome" EXACT [] synonym: "familial Creutzfeldt Jakob disease" EXACT [] synonym: "familial Creutzfeldt-Jakob diseases" EXACT [] synonym: "New Variant Creutzfeldt Jakob Disease" EXACT [] synonym: "protection against Creutzfeldt-Jakob disease" RELATED [] synonym: "sCJD" NARROW [] synonym: "subacute spongiform encephalopathies" EXACT [] synonym: "subacute spongiform encephalopathy" EXACT [] synonym: "transmissible virus dementia" EXACT [] synonym: "vCJD" NARROW [] synonym: "V CJD (variant Creutzfeldt Jakob disease)" EXACT [] xref: EFO:0004226 xref: GARD:6956 xref: ICD10CM:A81.0 xref: ICD9CM:046.1 xref: MESH:D007562 xref: NCI:C26802 is_a: DOID:1307 ! dementia is_a: DOID:649 ! prion disease [Term] id: DOID:1195 name: ischemic neuropathy synonym: "Ischemic peripheral neuropathy" EXACT [] xref: NCI:C27025 xref: RDO:9002718 is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11963 name: esophagitis def: "INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA." [MESH:D004941] synonym: "acute esophagitis" EXACT [] synonym: "esophagitides" EXACT [] xref: ICD10CM:K20 xref: ICD10CM:K20.9 xref: ICD9CM:530.1 xref: MESH:D004941 xref: NCI:C9224 is_a: DOID:2326 ! gastroenteritis is_a: DOID:6050 ! esophageal disease [Term] id: DOID:11968 name: postmenopausal atrophic vaginitis def: "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. (DO)" [PMID:20003787 "DO"] synonym: "Atrophic Vaginitides" EXACT [] synonym: "Atrophic Vaginitis" EXACT [] synonym: "senile vaginitis" EXACT [] xref: EFO:1001271 xref: ICD10CM:N95.2 xref: ICD9CM:627.3 xref: MESH:D059268 is_a: DOID:2170 ! vaginitis [Term] id: DOID:11971 name: synostosis def: "A dysostosis that results_in abnormal fusing of adjacent bones. (DO)" [http://en.wikipedia.org/wiki/Synostosis "DO", http://medical-dictionary.thefreedictionary.com/synostosis "DO"] synonym: "synostoses" EXACT [] xref: MESH:D013580 is_a: DOID:1934 ! dysostosis is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:11975 name: coloboma of optic nerve alt_id: MIM:120430 synonym: "COLOBOMA OF OPTIC DISC" EXACT [] synonym: "Congenital coloboma of the optic nerve" EXACT [] synonym: "MORNING GLORY DISC ANOMALY" NARROW [] synonym: "Morning glory syndrome" EXACT [] synonym: "Optic nerve coloboma" EXACT [] synonym: "OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL" NARROW [] xref: GARD:13354 xref: GARD:8502 xref: ICD10CM:Q14.2 xref: ICD9CM:377.23 xref: MESH:C535970 is_a: DOID:12270 ! coloboma is_a: DOID:1393 ! visual pathway disease [Term] id: DOID:11976 name: botulism def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, 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. (DO)" [http://en.wikipedia.org/wiki/Botulism "DO", https://en.wikipedia.org/wiki/Botulism "DO", https://www.cdc.gov/botulism/index.html "DO"] synonym: "botulism poisoning" EXACT [] synonym: "food poisoning due to clostridium botulinum" EXACT [] synonym: "infection due to clostridium botulinum" EXACT [] synonym: "intoxication with clostridium botulinum toxin" EXACT [] synonym: "toxico infectious botulism" EXACT [] xref: EFO:0005542 xref: GARD:943 xref: ICD10CM:A05.1 xref: MESH:D001906 xref: NCI:C84599 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:3602 ! toxic encephalopathy is_a: DOID:439 ! neuromuscular junction disease is_a: DOID:9006436 ! Foodborne Diseases is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:11981 name: morbid obesity def: "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." [MESH:D009767] synonym: "morbid obesities" EXACT [] synonym: "severe obesities" EXACT [] synonym: "severe obesity" EXACT [] xref: EFO:0001074 xref: ICD9CM:278.01 xref: MESH:D009767 xref: NCI:C34858 is_a: DOID:9970 ! obesity [Term] id: DOID:11983 name: Prader-Willi syndrome alt_id: MIM:176270 def: "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. (DO)" [https://ghr.nlm.nih.gov/condition/prader-willi-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1330/ "DO"] synonym: "Labhart Willi Prader Fanconi syndrome" EXACT [] synonym: "Labhart Willi Syndrome" EXACT [] synonym: "Prader Labhart Willi Syndrome" EXACT [] synonym: "PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6" NARROW [] synonym: "PRADER-WILLI SYNDROME CHROMOSOME REGION" NARROW [] synonym: "PWCR" NARROW [] synonym: "PWS" EXACT [] synonym: "Royer's Syndrome" EXACT [] synonym: "Royers Syndrome" EXACT [] synonym: "Royer syndrome" EXACT [] xref: GARD:5575 xref: ICD10CM:Q87.11 xref: ICD9CM:759.81 xref: MESH:D011218 xref: NCI:C75463 xref: ORDO:739 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:11984 name: hypertrophic cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)" [http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy "DO", http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "DO"] synonym: "CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY" NARROW [] synonym: "hypertrophic cardiomyopathies" EXACT [] synonym: "hypertrophic obstructive cardiomyopathies" EXACT [] synonym: "hypertrophic obstructive cardiomyopathy" EXACT [] xref: EFO:0000538 xref: ICD9CM:425.1 xref: MESH:D002312 xref: MONDO:0005045 xref: NCI:C34449 xref: ORDO:217568 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:5805 ! subvalvular aortic stenosis [Term] id: DOID:11988 name: conjunctival concretion xref: ICD10CM:H11.12 xref: ICD9CM:372.54 xref: MONDO:0001412 is_a: DOID:11653 ! conjunctival deposit created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11990 name: ulceroglandular tularemia def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] xref: ICD10CM:A21.0 xref: ICD9CM:021.0 is_a: DOID:2123 ! tularemia is_a: DOID:75 ! lymphatic system disease is_a: DOID:9003209 ! Bacterial Skin Diseases created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:11991 name: Osteopoikilosis def: "An osteosclerosis that results_in numerous bone islands located_in skeleton. (DO)" [http://en.wikipedia.org/wiki/Osteopoikilosis "DO"] synonym: "osteopoikiloses" EXACT [] xref: GARD:4158 xref: ICD10CM:Q78.8 xref: ICD9CM:756.53 xref: MESH:D010023 xref: NCI:C84985 is_a: DOID:4254 ! osteosclerosis is_a: DOID:65 ! connective tissue disease [Term] id: DOID:11994 name: atrophy of testis xref: ICD10CM:N50.0 xref: ICD9CM:608.3 xref: NCI:C123259 is_a: DOID:2519 ! testicular disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11996 name: spermatic cord torsion def: "The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost." [MESH:D013086] synonym: "spermatic cord torsions" EXACT [] synonym: "testicular torsion" EXACT [] synonym: "testicular torsions" EXACT [] synonym: "torsion of testicle" EXACT [] synonym: "torsion of testicular cord" EXACT [] synonym: "torsion of testis" EXACT [] xref: ICD10CM:N44.02 xref: ICD9CM:608.2 xref: MESH:D013086 xref: MIM:187400 xref: MONDO:0008541 xref: NCI:C26885 is_a: DOID:2519 ! testicular disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:11997 name: spermatocele def: "A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." [MESH:D013088] synonym: "Epididymal Cyst" EXACT [] synonym: "Epididymal Cysts" EXACT [] synonym: "Spermatoceles" EXACT [] xref: EFO:1001189 xref: ICD10CM:N43.4 xref: ICD10CM:N43.40 xref: ICD10CM:N50.3 xref: ICD9CM:608.1 xref: MESH:D013088 xref: NCI:C120909 xref: NCI:C3865 is_a: DOID:48 ! male reproductive system disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:120 name: female reproductive organ cancer def: "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. (DO)" [http://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia "DO", http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm "DO"] synonym: "female reproductive cancer" EXACT [] synonym: "malignant Gynecologic tumor" EXACT [NCI2004_11_17:C4913] synonym: "malignant neoplasm of female genital organ" EXACT [] xref: EFO:1001331 xref: ICD10CM:C57 xref: ICD9CM:184 xref: NCI:C3053 xref: NCI:C4913 is_a: DOID:193 ! reproductive organ cancer is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:12001 name: tracheal lymphoma synonym: "lymphoma of the trachea" EXACT [] synonym: "lymphoma of trachea" EXACT [] xref: NCI:C6248 is_a: DOID:0060058 ! lymphoma is_a: DOID:11920 ! tracheal cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12002 name: trachea sarcoma def: "A sarcoma and malignant tumor of trachea that is located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"] synonym: "sarcoma of the trachea" EXACT [] xref: NCI:C6050 is_a: DOID:1115 ! sarcoma is_a: DOID:11920 ! tracheal cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12003 name: trachea squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the trachea. (DO)" [PMID:26066883 "DO"] synonym: "squamous cell carcinoma of trachea" RELATED [] synonym: "Tracheal Epidermoid carcinoma" EXACT [NCI2004_11_17:C4448] xref: EFO:1000600 xref: NCI:C4448 xref: RDO:9002271 is_a: DOID:4876 ! trachea carcinoma is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:1201 name: trigeminal nerve neoplasm synonym: "neoplasm of trigeminal nerve" EXACT [] synonym: "tumor of trigeminal nerve" EXACT [] xref: NCI:C5122 is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:561 ! trigeminal nerve disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12010 name: anterior ischemic optic neuropathy def: "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" [MESH:D018917] synonym: "ischemic optic neuropathies" EXACT [] synonym: "ischemic optic neuropathy" EXACT [] synonym: "optic nerve ischemia" EXACT [] synonym: "posterior ischemic optic neuropathy" EXACT [] xref: EFO:1000809 xref: GARD:9790 xref: ICD10CM:H47.01 xref: ICD9CM:377.41 xref: MESH:D018917 xref: MONDO:0006649 is_a: DOID:178 ! vascular disease is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:12016 name: frontal lobe neoplasm synonym: "malignant neoplasm of frontal lobe" EXACT [] synonym: "neoplasm of frontal lobe" EXACT [] synonym: "tumor of frontal lobe" EXACT [] xref: ICD10CM:C71.1 xref: ICD9CM:191.1 xref: NCI:C5572 xref: RDO:9004697 is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:12028 name: Conn's syndrome def: "An adrenal adenoma characterized by the over production of aldosterone. (DO)" [http://en.wikipedia.org/wiki/Conn%27s_syndrome "DO"] synonym: "Conn syndrome" EXACT [] xref: GARD:7456 xref: ICD10CM:E26.01 xref: ICD9CM:255.12 xref: NCI:C34510 is_a: DOID:225 ! syndrome is_a: DOID:446 ! primary hyperaldosteronism is_a: DOID:656 ! adrenal adenoma created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12029 name: sympathetic ophthalmia def: "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. (DO)" [http://eyewiki.aao.org/Sympathetic_Ophthalmia "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/ "DO"] synonym: "sympathetic ophthalmias" EXACT [] synonym: "sympathetic uveitides" EXACT [] synonym: "sympathetic uveitis" EXACT [] xref: EFO:1001205 xref: ICD10CM:H44.13 xref: ICD9CM:360.11 xref: MESH:D009879 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:12030 ! panuveitis [Term] id: DOID:1203 name: drug-induced mental disorder xref: ICD9CM:292.8 xref: RDO:9003368 is_a: DOID:8646 ! substance-induced psychosis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12030 name: panuveitis def: "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. (DO)" [https://rarediseases.info.nih.gov/diseases/8577/panuveitis "DO"] synonym: "diffuse uveitis" EXACT [] xref: EFO:1001082 xref: GARD:8577 xref: ICD10CM:H44.11 xref: ICD9CM:360.12 xref: MESH:D015864 xref: NCI:C84989 is_a: DOID:13141 ! uveitis [Term] id: DOID:12043 name: kernicterus due to isoimmunization xref: EFO:1000721 xref: ICD10CM:P57.0 xref: ICD9CM:773.4 xref: NCI:C101270 is_a: DOID:11244 ! neonatal anemia is_a: DOID:2382 ! kernicterus is_a: DOID:2383 ! neonatal jaundice created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1205 name: allergic disease def: "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO)" [http://en.wikipedia.org/wiki/Allergy "DO"] synonym: "allergic hypersensitivity disease" EXACT [] synonym: "allergic reaction" EXACT [] synonym: "allergic reactions" EXACT [] synonym: "allergies" EXACT [] synonym: "allergy" EXACT [] synonym: "atopy" EXACT [] synonym: "eye allergy" NARROW [] synonym: "hypersensitivities" EXACT [] synonym: "hypersensitivity" EXACT [] synonym: "hypersensitivity reaction type I disease" NARROW [] xref: EFO:0003785 xref: EFO:0005751 xref: ICD10CM:T78.40 xref: MESH:D006967 xref: MONDO:0005271 xref: NCI:C3114 is_a: DOID:2914 ! immune system disease [Term] id: DOID:12053 name: cryptococcosis def: "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. (DO)" [http://en.wikipedia.org/wiki/Cryptococcosis "DO"] synonym: "Busse-Buschke's disease" EXACT [] synonym: "cryptococcal infection" EXACT [] synonym: "cryptococcoses" EXACT [] synonym: "cryptococcus neoformans infection" RELATED [] synonym: "European cryptococcosis" EXACT [] synonym: "torula" EXACT [] synonym: "Toruloses" EXACT [] synonym: "torulosis" EXACT [] xref: EFO:0007229 xref: GARD:6218 xref: ICD10CM:B45 xref: ICD9CM:117.5 xref: MESH:D003453 xref: NCI:C2967 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:12055 name: sarcoid meningitis synonym: "meningitis in sarcoidosis" EXACT [] xref: ICD10CM:D86.81 xref: ICD9CM:321.4 is_a: DOID:13403 ! neurosarcoidosis is_a: DOID:9471 ! meningitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1206 name: Rett syndrome def: "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)" [http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm "DO", http://www.ninds.nih.gov/disorders/rett/detail_rett.htm "DO", https://medlineplus.gov/ency/article/001536.htm "DO"] synonym: "autism, dementia, ataxia, and loss of purposeful hand use" EXACT [] synonym: "autism, dementia, ataxia, loss of purposeful hand use syndrome" EXACT [] synonym: "cerebroatrophic hyperammonemia" EXACT [] synonym: "cerebroatrophic hyperammonemias" EXACT [] synonym: "Rett's disorder" EXACT [] synonym: "Rett's syndrome" EXACT [] synonym: "Rett disorder" EXACT [] synonym: "RTS" EXACT [] synonym: "RTT" EXACT [] xref: EFO:0001079 xref: GARD:5696 xref: ICD10CM:F84.2 xref: MESH:D015518 xref: MIM:312750 xref: MONDO:0010726 xref: NCI:C75488 is_a: DOID:0060040 ! pervasive developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:12064 name: mediastinum neurofibroma synonym: "neurofibroma of mediastinum" EXACT [] xref: NCI:C6631 xref: RDO:9004344 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:12070 name: Dieulafoy lesion synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [] synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [] xref: GARD:10930 xref: ICD10CM:K31.82 xref: ICD9CM:537.84 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12072 name: pylorospasm xref: ICD9CM:537.81 xref: RDO:9003451 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12084 name: transient arthropathy synonym: "Transient arthropathy involving forearm" NARROW [] synonym: "Transient arthropathy involving hand" NARROW [] synonym: "Transient arthropathy involving lower leg" NARROW [] synonym: "Transient arthropathy involving multiple sites" NARROW [] synonym: "Transient arthropathy involving pelvic region and thigh" NARROW [] synonym: "Transient arthropathy involving shoulder region" NARROW [] synonym: "Transient arthropathy involving upper arm" NARROW [] xref: ICD9CM:716.41 is_a: DOID:2092 ! transient arthritis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12087 name: deep corneal vascularisation synonym: "deep vascularization of cornea" EXACT [] xref: ICD10CM:H16.44 xref: ICD9CM:370.63 xref: RDO:9004126 is_a: DOID:11382 ! corneal neovascularization created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1209 name: nutritional optic neuropathy def: "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. (DO)" [PMID:25345287 "DO"] xref: ICD10CM:H46.2 xref: ICD9CM:377.33 is_a: DOID:1210 ! optic neuritis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12096 name: sodoku disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. (DO)" [http://en.wikipedia.org/wiki/Rat_bite_fever "DO", http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf "DO"] synonym: "rat-bite fever" EXACT [] synonym: "ratbite fever" EXACT [] synonym: "rat-bite fevers" EXACT [] synonym: "ratbite fevers" EXACT [] synonym: "sodoku" EXACT [] synonym: "spirillary fever" EXACT [] synonym: "spirillosis" EXACT [] xref: EFO:1001144 xref: ICD10CM:A25.0 xref: ICD9CM:026.0 xref: MESH:D011906 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:12098 name: trigeminal neuralgia alt_id: MIM:190400 def: "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" [MESH:D014277] synonym: "epileptiform neuralgia" EXACT [] synonym: "epileptiform neuralgias" EXACT [] synonym: "Fothergill disease" EXACT [] synonym: "Idiopathic Trigeminal Neuralgia" EXACT [] synonym: "idiopathic trigeminal neuralgias" EXACT [] synonym: "Secondary Trigeminal Neuralgia" EXACT [] synonym: "Secondary Trigeminal Neuralgias" EXACT [] synonym: "Tic Douloureux" EXACT [] synonym: "trifacial neuralgia" EXACT [] synonym: "trifacial neuralgias" EXACT [] synonym: "trifocal neuralgia" EXACT [] synonym: "trigeminal neuralgias" EXACT [] xref: EFO:1001219 xref: GARD:7805 xref: ICD10CM:G50.0 xref: ICD9CM:350.1 xref: MESH:D014277 is_a: DOID:225 ! syndrome is_a: DOID:561 ! trigeminal nerve disease [Term] id: DOID:121 name: vaginal disease def: "A female reproductive system disease that is located_in the vagina. (DO)" [https://en.wikipedia.org/wiki/Vaginal_disease "DO"] synonym: "vaginal diseases" EXACT [] xref: MESH:D014623 xref: NCI:C26910 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:1210 name: optic neuritis def: "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. (DO)" [https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953 "DO"] synonym: "anterior optic neuritides" EXACT [] synonym: "anterior optic neuritis" EXACT [] synonym: "neuropapillitides" EXACT [] synonym: "neuropapillitis" EXACT [] synonym: "optic neuritides" EXACT [] synonym: "posterior optic neuritides" EXACT [] synonym: "posterior optic neuritis" EXACT [] xref: EFO:0007405 xref: GARD:7320 xref: ICD10CM:H46 xref: ICD9CM:377.3 xref: MESH:D009902 xref: NCI:C84950 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:12105 name: inflammatory spondylopathy synonym: "inflammatory spondylopathies in disease classified elsewhere" EXACT [] synonym: "inflammatory spondylopathies in disease EC" EXACT [] synonym: "inflammatory spondylopathy in disease classified elsewhere" EXACT [] xref: ICD9CM:720.81 is_a: DOID:6590 ! spondylitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12108 name: bullous retinoschisis xref: ICD9CM:361.12 is_a: DOID:8465 ! retinoschisis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12117 name: pulmonary alveolar microlithiasis alt_id: MIM:265100 def: "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. (DO)" [PMID:27514591 "DO"] synonym: "SLC34A2-RELATED CONDITION" EXACT [] xref: GARD:11894 xref: ICD10CM:J84.02 xref: ICD9CM:516.2 xref: MESH:C562405 is_a: DOID:182 ! calcinosis is_a: DOID:850 ! lung disease [Term] id: DOID:12118 name: pulmonary hemosiderosis def: "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. (DO)" [http://en.wikipedia.org/wiki/Brown_induration "DO", http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis "DO", https://erj.ersjournals.com/content/24/1/162.full "DO"] synonym: "alveolar hypoventilation syndrome" EXACT [] synonym: "brown induration" EXACT [] synonym: "brown lung" EXACT [] synonym: "idiopathic pulmonary hemosiderosis" EXACT [] synonym: "pulmonary hemosiderosis with deficiency of gamma-a globulin" EXACT [] xref: ICD10CM:J84.03 xref: ICD9CM:516.1 xref: MESH:D000097545 xref: MIM:178550 xref: MIM:235500 xref: MONDO:0008346 xref: ORDO:99931 is_a: DOID:12119 ! hemosiderosis is_a: DOID:850 ! lung disease [Term] id: DOID:12119 name: hemosiderosis def: "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. (DO)" [http://en.wikipedia.org/wiki/Hemosiderosis "DO"] synonym: "haemosiderosis" EXACT [] synonym: "hemosideroses" EXACT [] xref: GARD:6595 xref: MESH:D006486 xref: NCI:C82892 is_a: DOID:9005725 ! Iron Overload [Term] id: DOID:12120 name: pulmonary alveolar proteinosis def: "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis "DO"] synonym: "Pulmonary Alveolar Proteinoses" EXACT [] xref: ICD10CM:J84.01 xref: ICD9CM:516.0 xref: MESH:D011649 xref: MIM:PS265120 xref: MONDO:0001437 xref: NCI:C85037 xref: ORDO:264675 is_a: DOID:850 ! lung disease [Term] id: DOID:12123 name: postinflammatory pulmonary fibrosis synonym: "post-inflammatory pulmonary fibrosis" EXACT [] xref: ICD10CM:J84.10 xref: ICD9CM:515 xref: MONDO:0001438 is_a: DOID:3770 ! pulmonary fibrosis created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:12124 name: episcleritis periodica fugax def: "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. (DO)" [https://eyewiki.aao.org/Episcleritis "DO"] xref: ICD10CM:H15.11 xref: ICD9CM:379.01 is_a: DOID:11343 ! scleral disease [Term] id: DOID:12125 name: neurotrophic keratoconjunctivitis def: "A degenerative disease of the corneal epithelium resulting from impaired corneal innervation. " [] xref: ICD10CM:H16.23 xref: ICD9CM:370.35 xref: RDO:9003229 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12128 name: pica disease def: "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. (DO)" [http://en.wikipedia.org/wiki/Pica_%28disorder%29 "DO"] synonym: "allotriophagy" EXACT [] synonym: "geophagia" EXACT [] synonym: "pica" EXACT [] xref: ICD9CM:307.52 xref: MESH:D010842 xref: NCI:C92566 is_a: DOID:8670 ! eating disorder is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:12129 name: bulimia nervosa def: "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. (DO)" [http://en.wikipedia.org/wiki/Bulimia_nervosa "DO"] synonym: "BN" EXACT [] synonym: "BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN" RELATED [] synonym: "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "BULN1" NARROW [] synonym: "hyperorexia nervosa" EXACT [] xref: EFO:0005204 xref: ICD10CM:F50.2 xref: MESH:D052018 xref: MIM:607499 xref: MONDO:0011846 is_a: DOID:8670 ! eating disorder is_a: DOID:9004099 ! Bulimia [Term] id: DOID:12132 name: granulomatosis with polyangiitis alt_id: MIM:608710 def: "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. (DO)" [https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis "DO"] synonym: "granulomatosis with polyangiitides" EXACT [] synonym: "necrotizing respiratory granulomatosis" EXACT [] synonym: "Wegener's granulomatosis" EXACT [] synonym: "Wegener's syndrome" EXACT [] synonym: "Wegener granulomatosis" EXACT [] synonym: "Wegener granulomatosis, formerly" EXACT [] synonym: "WG" EXACT [] xref: EFO:0005297 xref: GARD:7880 xref: ICD10CM:M31.3 xref: ICD9CM:446.4 xref: MESH:D014890 xref: NCI:C3444 is_a: DOID:0060050 ! autoimmune disease of blood is_a: DOID:3082 ! interstitial lung disease is_a: DOID:37 ! skin disease is_a: DOID:557 ! kidney disease is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis [Term] id: DOID:12134 name: factor VIII deficiency def: "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. (DO)" [http://en.wikipedia.org/wiki/Hemophilia_A "DO"] synonym: "classic hemophilia" EXACT [] synonym: "classic hemophilia A" EXACT [] synonym: "classic hemophilias" EXACT [] synonym: "congenital factor 8 deficiency" EXACT [] synonym: "congenital factor VIII deficiency" EXACT [] synonym: "congenital factor VIII disorder" EXACT [] synonym: "congenital hemophilia A" EXACT [] synonym: "F8-RELATED CONDITION" BROAD [] synonym: "factor VIII (Okayama)" RELATED [] synonym: "haemophilia" EXACT [] synonym: "haemophilia A" EXACT [] synonym: "HEMA" EXACT [] synonym: "hemophilia" EXACT [] synonym: "hemophilia A" EXACT [] synonym: "hemophilia A, FVIII deficiency" EXACT [] synonym: "subhemophilia" EXACT [] xref: GARD:6591 xref: ICD10CM:D66 xref: ICD9CM:286.0 xref: MESH:D006467 xref: MIM:306700 xref: MONDO:0010602 xref: NCI:C27146 xref: NCI:C3093 xref: OMIA:000437 xref: ORDO:98878 is_a: DOID:0061030 ! hemophilia is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:12139 name: dysthymic disorder def: "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "dysthymia" EXACT [] synonym: "dysthymic disorders" EXACT [] xref: EFO:0008623 xref: ICD9CM:300.4 xref: MESH:D019263 xref: MONDO:0001442 xref: NCI:C34562 is_a: DOID:3324 ! mood disorder [Term] id: DOID:1214 name: tympanosclerosis alt_id: MESH:D063371 def: "The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." [MESH:D063371] synonym: "intratympanic tympanosclerosis" EXACT [] synonym: "myringoscleroses" EXACT [] synonym: "myringosclerosis" EXACT [] synonym: "tympanic calcification" EXACT [] synonym: "tympanoscleroses" EXACT [] xref: EFO:1001812 xref: ICD9CM:385.09 xref: MESH:D000092163 is_a: DOID:2742 ! auditory system disease is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:12140 name: Chagas disease def: "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. (DO)" [http://en.wikipedia.org/wiki/Chagas_disease "DO"] synonym: "American trypanosomiasis" EXACT [] synonym: "Chagas' disease with digestive system involvement" EXACT [] synonym: "Chagas' disease with nervous system involvement" EXACT [] synonym: "Chagas' disease with other organ involvement" EXACT [] synonym: "South American trypanosomiasis" EXACT [] xref: EFO:0008559 xref: GARD:6030 xref: ICD9CM:086.2 xref: MESH:D014355 xref: ORDO:3386 is_a: DOID:10113 ! trypanosomiasis [Term] id: DOID:12143 name: neurogenic bladder def: "Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES." [MESH:D001750] synonym: "Atonic Neurogenic Bladder" EXACT [] synonym: "Bladder Neurogenesis" EXACT [] synonym: "Neurogenic Bladder Disorder" EXACT [] synonym: "neurogenic bladder disorders" EXACT [] synonym: "Neurogenic Dysfunction of the Urinary Bladder" EXACT [] synonym: "neurogenic urinary bladder" EXACT [] synonym: "Neurogenic Urinary Bladder, Atonic" EXACT [] synonym: "Neurogenic Urinary Bladder Disorder" EXACT [] synonym: "Neurogenic Urinary Bladder, Spastic" EXACT [] synonym: "Neurogenic Urinary Bladder, Uninhibited" EXACT [] synonym: "Neuropathic Bladder" EXACT [] synonym: "Spastic Neurogenic Bladder" EXACT [] synonym: "Uninhibited Neurogenic Bladder" EXACT [] synonym: "Urinary Bladder Neurogenesis" EXACT [] synonym: "urinary bladder neurogenic dysfunction" EXACT [] xref: ICD9CM:596.54 xref: MESH:D001750 xref: NCI:C79696 is_a: DOID:365 ! bladder disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:12144 name: low compliance bladder synonym: "hyperactivity of bladder" EXACT [MTHICD9_2006:596.51] synonym: "hypertonic bladder" EXACT [SNOMEDCT_2005_07_31:314717001] synonym: "hypertonicity of bladder" EXACT [ICD9CM_2006:596.51] xref: ICD9CM:596.52 xref: RDO:9003064 is_a: DOID:365 ! bladder disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12145 name: detrusor sphincter dyssynergia xref: ICD9CM:596.55 xref: RDO:9003072 is_a: DOID:365 ! bladder disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12148 name: alveolar echinococcosis def: "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO"] synonym: "alveolococcosis" EXACT [] synonym: "echinococcus multilocularis infection" RELATED [] synonym: "multilocular hydatid" EXACT [] synonym: "small fox tapeworm" EXACT [] xref: GARD:207 xref: ICD10CM:B67.7 xref: ICD9CM:122.7 xref: MESH:C536591 is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:9006925 ! Hepatic Echinococcosis is_a: DOID:936 ! brain disease [Term] id: DOID:12155 name: lymphocytic choriomeningitis def: "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. (DO)" [http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis "DO"] synonym: "Armstrong's syndrome" EXACT [] synonym: "Armstrong syndrome" EXACT [] synonym: "LCM" EXACT [] synonym: "Lymphocytic Choriomeningitis Virus Encephalomyelitis" EXACT [] synonym: "lymphocytic meningitis" EXACT [] synonym: "lymphocytic meningoencephalitis" EXACT [] xref: ICD10CM:A87.2 xref: MESH:D008216 xref: MONDO:0001449 xref: NCI:C174114 is_a: DOID:10310 ! viral meningitis is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:12156 name: arachnoiditis def: "Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)" [MESH:D001100] synonym: "arachnoiditides" EXACT [] synonym: "arachnoid membrane inflammation" EXACT [] synonym: "arachnoid membrane inflammations" EXACT [] xref: GARD:5839 xref: ICD10CM:G03 xref: MESH:D001100 xref: NCI:C37913 is_a: DOID:9471 ! meningitis [Term] id: DOID:12157 name: aseptic meningitis def: "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/ "DO", PMID:23622323 "DO"] synonym: "acute aseptic meningitis" EXACT [] xref: EFO:1000823 xref: ICD10CM:G03.0 xref: MESH:D008582 xref: MONDO:0006662 xref: NCI:C118299 is_a: DOID:9471 ! meningitis [Term] id: DOID:12161 name: peripheral retinal degeneration synonym: "peripheral degeneration of retina" EXACT [] xref: ICD10CM:H35.4 xref: ICD9CM:362.6 xref: NCI:C34919 is_a: DOID:8466 ! retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12162 name: pseudoretinitis pigmentosa synonym: "secondary pigmentary degeneration of retina" EXACT [] synonym: "secondary pigmentary retinal degeneration" EXACT [] xref: ICD10CM:H35.45 xref: ICD9CM:362.65 xref: MONDO:0001452 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12163 name: senile reticular retinal degeneration synonym: "senile reticular degeneration of retina" EXACT [] xref: ICD9CM:362.64 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12164 name: Blessig's cysts synonym: "Blessig cysts" EXACT [] synonym: "Iwanoff's cysts" EXACT [] synonym: "Microcystoid degeneration of retina" EXACT [] synonym: "Microcystoid retinal degeneration" EXACT [] xref: ICD10CM:H35.42 xref: ICD9CM:362.62 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12165 name: retinal lattice degeneration synonym: "palisade degeneration of retina" EXACT [] xref: ICD10CM:H35.41 xref: ICD9CM:362.63 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12166 name: cobblestone retinal degeneration synonym: "Paving stone degeneration of retina" EXACT [] synonym: "Paving stone retinal degeneration" EXACT [] xref: ICD10CM:H35.43 xref: ICD9CM:362.61 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12167 name: secondary vitreoretinal degeneration xref: ICD10CM:H35.46 xref: ICD9CM:362.66 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12168 name: ulnar nerve lesion synonym: "lesion of ulnar nerve" EXACT [] xref: ICD10CM:G56.2 xref: ICD9CM:354.2 is_a: DOID:4613 ! ulnar neuropathy is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12169 name: carpal tunnel syndrome def: "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. (DO)" [https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome "DO", https://medlineplus.gov/ency/article/000433.htm "DO", https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/ "DO"] synonym: "carpal tunnel entrapment neuropathy" EXACT [] synonym: "carpal tunnel median neuropathy" EXACT [] synonym: "CARPAL TUNNEL SYNDROME, FAMILIAL" EXACT [] synonym: "Carpal Tunnel Syndromes" EXACT [] synonym: "Compression Neuropathy, Carpal Tunnel" EXACT [] synonym: "CTS" EXACT [] synonym: "CTS - carpal tunnel syndrome" EXACT [] synonym: "median nerve entrapment" EXACT [] synonym: "thenar amyotrophy of carpal origin" EXACT [] xref: EFO:0004143 xref: ICD10CM:G56.0 xref: ICD9CM:354.0 xref: MESH:D002349 xref: MIM:PS115430 xref: MONDO:0007275 xref: NCI:C34450 is_a: DOID:571 ! median neuropathy is_a: DOID:573 ! nerve compression syndrome is_a: DOID:9004498 ! Cumulative Trauma Disorders [Term] id: DOID:1217 name: fascioloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. (DO)" [http://en.wikipedia.org/wiki/Fascioloides_magna "DO"] synonym: "Fascioloidiases" EXACT [] xref: EFO:0007268 xref: MESH:D005213 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:888 ! fasciolopsiasis is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:12170 name: radial nerve lesion synonym: "lesion of radial nerve" EXACT [] synonym: "radial nerve lesions" EXACT [] xref: EFO:1001143 xref: ICD10CM:G56.3 xref: ICD9CM:354.3 is_a: DOID:12171 ! radial neuropathy is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:12171 name: radial neuropathy def: "Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." [MESH:D020425] synonym: "crutch palsies" EXACT [] synonym: "Crutch Palsy" EXACT [] synonym: "Radial Nerve Disease" EXACT [] synonym: "Radial Nerve Diseases" EXACT [] synonym: "Radial Neuropathies" EXACT [] synonym: "Saturday Night Palsies" EXACT [] synonym: "Saturday Night Palsy" EXACT [] synonym: "superficial radial nerve lesion" EXACT [] xref: MESH:D020425 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:12175 name: dyshormonogenic goiter synonym: "dyshormonogenic goitre" EXACT [] xref: ICD9CM:246.1 is_a: DOID:12176 ! goiter [Term] id: DOID:12176 name: goiter def: "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. (DO)" [http://www.thyroid.org/patients/patient_brochures/goiter.html "DO"] synonym: "goiters" EXACT [] synonym: "goitre" EXACT [] xref: EFO:0004283 xref: ICD9CM:240.9 xref: MESH:D006042 xref: NCI:C26785 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:12177 name: common variable immunodeficiency def: "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. (DO)" [http://en.wikipedia.org/wiki/Common_variable_immunodeficiency "DO", http://www.merck.com/mmpe/sec13/ch164/ch164g.html "DO"] synonym: "acquired agammaglobulinemia" EXACT [] synonym: "acquired hypogammaglobulinemia" EXACT [1] synonym: "acquired hypogammaglobulinemias" EXACT [] synonym: "autosomal dominant common variable immunodeficiency" NARROW [] synonym: "common variable agammaglobulinemia" EXACT [] synonym: "Common Variable Hypogammaglobulinemia" EXACT [] synonym: "common variable hypogammaglobulinemias" EXACT [] synonym: "Common Variable Immune Deficiency" EXACT [] synonym: "COMMON VARIABLE IMMUNE DEFICIENCY, DOMINANT" NARROW [] synonym: "COMMON VARIABLE IMMUNE DEFICIENCY, RECESSIVE" NARROW [] synonym: "common variable immunodeficiencies" EXACT [1] synonym: "CVID" NARROW [] synonym: "IL21 DEFICIENCY" EXACT [] synonym: "late-onset immunoglobulin deficiencies" EXACT [] synonym: "late-onset immunoglobulin deficiency" EXACT [] synonym: "sporadic hypogammaglobulinemia" EXACT [] xref: EFO:0000367 xref: EFO:0020035 xref: GARD:6140 xref: ICD10CM:D83 xref: ICD9CM:279.06 xref: MESH:D017074 xref: MIM:PS607594 xref: MONDO:0015517 xref: NCI:C26725 xref: ORDO:1572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:12179 name: tinea corporis def: "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm "DO"] synonym: "dermatophytosis of the body" EXACT [] synonym: "dermatophytosis of the trunk" EXACT [] xref: ICD9CM:110.5 is_a: DOID:8913 ! dermatophytosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1218 name: echinostomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm "DO"] synonym: "Echinostomiases" EXACT [] synonym: "infection by Echinochasmus" EXACT [] xref: EFO:0007246 xref: MESH:D004451 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:12185 name: otosclerosis def: "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. (DO)" [http://en.wikipedia.org/wiki/Otosclerosis "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh "DO"] synonym: "otoscleroses" EXACT [] synonym: "otospongioses" EXACT [] synonym: "otospongiosis" EXACT [] synonym: "OTS" EXACT [] xref: EFO:0004213 xref: ICD10CM:H80.80 xref: ICD9CM:387.8 xref: MESH:D010040 xref: MIM:PS166800 xref: NCI:C185242 xref: ORDO:2794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2952 ! inner ear disease [Term] id: DOID:1219 name: dicrocoeliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm "DO"] synonym: "dicrocoeliases" EXACT [] synonym: "disease due to dicrocoeliidae" EXACT [] xref: EFO:0007234 xref: ICD10CM:B66.2 xref: MESH:D004011 is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:12190 name: descending colon cancer synonym: "Ca descending colon" EXACT [] synonym: "malignant neoplasm of left colon" EXACT [] synonym: "malignant tumor of descending colon" EXACT [] xref: ICD10CM:C18.6 xref: ICD9CM:153.2 is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:12191 name: splenic flexure cancer synonym: "Ca splenic flexure - colon" EXACT [] synonym: "malignant neoplasm of splenic flexure" EXACT [] synonym: "malignant tumor of splenic flexure" EXACT [] xref: ICD10CM:C18.5 xref: ICD9CM:153.7 is_a: DOID:12190 ! descending colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:12192 name: sigmoid colon cancer synonym: "Ca sigmoid colon" EXACT [] synonym: "malignant tumor of sigmoid colon" EXACT [] xref: ICD10CM:C18.7 xref: ICD9CM:153.3 is_a: DOID:219 ! colon cancer [Term] id: DOID:12196 name: superficial keratitis xref: ICD10CM:H16.10 xref: ICD9CM:370.20 xref: RDO:9002831 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12197 name: punctate epithelial keratoconjunctivitis synonym: "punctate keratitis" EXACT [] synonym: "Thygeson's superficial punctate keratitis" EXACT [] synonym: "Thygeson superficial punctate keratitis" EXACT [] xref: ICD10CM:H16.14 xref: ICD9CM:370.21 is_a: DOID:12196 ! superficial keratitis is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12205 name: dengue disease def: "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. (DO)" [https://www.cdc.gov/dengue/about/index.html "DO", https://www.merriam-webster.com/dictionary/dengue#medicalDictionary "DO", https://www.ncbi.nlm.nih.gov/books/NBK430732/ "DO"] synonym: "Break Bone Fever" EXACT [] synonym: "Breakbone Fever" EXACT [] synonym: "Classical Dengue" EXACT [] synonym: "Classical Dengue Fever" EXACT [] synonym: "classic dengue" EXACT [] synonym: "dengue" EXACT [] synonym: "Dengue Fever" EXACT [] synonym: "dengue fever, protection against" RELATED [] synonym: "dengue fever, susceptibility to" NARROW [] synonym: "dengue shock syndrome, susceptibility to" NARROW [] synonym: "dengue virus, susceptibility to" RELATED [] xref: EFO:0005547 xref: GARD:6254 xref: ICD10CM:A90 xref: ICD9CM:061 xref: MESH:D003715 xref: MIM:614371 xref: MONDO:0005502 xref: NCI:C34528 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:12206 name: dengue hemorrhagic fever def: "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf "DO", http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm "DO", https://www.merriam-webster.com/medical/dengue%20hemorrhagic%20fever "DO"] synonym: "dengue haemorrhagic fever" EXACT [] synonym: "DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO" NARROW [] synonym: "DHF" EXACT [] synonym: "hemorrhagic dengue" EXACT [] synonym: "Hemorrhagic Dengues" EXACT [] synonym: "Philippine Hemorrhagic Fever" EXACT [] synonym: "Severe Dengue" EXACT [] synonym: "Severe Dengues" EXACT [] synonym: "Singapore hemorrhagic fever" EXACT [] synonym: "Thai hemorrhagic fever" EXACT [] xref: EFO:0004227 xref: ICD10CM:A91 xref: MESH:D019595 xref: NCI:C34683 is_a: DOID:12205 ! dengue disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12211 name: filarial elephantiasis def: "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. (DO)" [https://www.cdc.gov/parasites/lymphaticfilariasis/index.html "DO", https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis "DO"] synonym: "bancroftian elephantiasis" EXACT [] synonym: "bancroftian filarial chyluria" EXACT [] synonym: "elephantiasis of eyelid" EXACT [] synonym: "lymphatic filariasis" EXACT [] xref: EFO:0007272 xref: MESH:D004605 xref: MONDO:0005761 xref: NCI:C128360 is_a: DOID:1080 ! filariasis is_a: DOID:4976 ! elephantiasis is_a: DOID:530 ! eyelid disease [Term] id: DOID:12215 name: oligohydramnios def: "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. (DO)" [http://www.merriam-webster.com/medlineplus/oligohydramnios "DO"] synonym: "ANHYDRAMNIOS" NARROW [] synonym: "antepartum oligohydramnios" EXACT [] synonym: "oligohydramnios - delivered" EXACT [] xref: EFO:0007401 xref: ICD10CM:O41.0 xref: ICD10CM:O41.00 xref: ICD9CM:658.0 xref: MESH:D016104 xref: NCI:C92839 is_a: DOID:780 ! placenta disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:12217 name: Lewy body dementia def: "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. (DO)" [http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies "DO", http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038 "DO"] synonym: "cortical Lewy body disease" EXACT [] synonym: "dementia with Lewy bodies" EXACT [] synonym: "diffuse Lewy body disease" EXACT [] synonym: "DLB" EXACT [] synonym: "Lewy body disease" EXACT [] synonym: "Lewy body type senile dementia" EXACT [] synonym: "LEWY BODY VARIANT OF ALZHEIMER'S DISEASE" NARROW [] synonym: "LEWY BODY VARIANT OF ALZHEIMER DISEASE" NARROW [] synonym: "senile dementia of the Lewy body type" EXACT [] xref: EFO:0006792 xref: GARD:3243 xref: ICD10CM:G31.83 xref: ICD9CM:331.82 xref: MESH:D020961 xref: MIM:127750 xref: MONDO:0007488 xref: NCI:C84826 is_a: DOID:0080855 ! Parkinsonism is_a: DOID:1307 ! dementia [Term] id: DOID:1222 name: cartilage disease def: "A connective tissue disease that is located_in cartilage. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/ "DO"] synonym: "cartilage diseases" EXACT [] synonym: "cartilage disorder" EXACT [] synonym: "chondropathy" EXACT [] xref: EFO:0005802 xref: ICD10CM:M94.9 xref: MESH:D002357 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:12225 name: Plica syndrome xref: ICD10CM:M67.5 xref: ICD9CM:727.83 is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12234 name: cascade stomach synonym: "Hourglass stricture or stenosis of stomach" EXACT [ICD9CM_2006:537.6] xref: ICD10CM:K31.2 xref: ICD9CM:537.6 xref: RDO:9003454 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12236 name: primary biliary cholangitis def: "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (DO)" [http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis "DO", http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh "DO", https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874 "DO"] synonym: "biliary cirrhosis" EXACT [] synonym: "biliary liver cirrhosis" EXACT [] synonym: "cholestatic cirrhosis" EXACT [] synonym: "chronic nonsuppurative destructive cholangitis" EXACT [] synonym: "obstructive liver cirrhosis" EXACT [] synonym: "PBC" EXACT [] synonym: "primary biliary cirrhosis" EXACT [] synonym: "secondary biliary cirrhosis" EXACT [] xref: EFO:0004267 xref: EFO:1001486 xref: EFO:1001487 xref: GARD:7459 xref: ICD10CM:K74.3 xref: ICD10CM:K74.5 xref: ICD9CM:571.6 xref: MESH:D008105 xref: MIM:PS109720 xref: NCI:C27167 xref: NCI:C51225 xref: ORDO:186 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:5082 ! liver cirrhosis is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:12237 name: bile reflux def: "A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. (DO)" [https://en.wikipedia.org/wiki/Biliary_reflux "DO", https://www.mayoclinic.org/diseases-conditions/bile-reflux/symptoms-causes/syc-20370115 "DO"] xref: EFO:1000838 xref: MESH:D001655 is_a: DOID:4071 ! duodenogastric reflux is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:12239 name: anal margin squamous cell carcinoma synonym: "perianal skin squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of anal margin" EXACT [] xref: ICD10CM:C44.520 xref: NCI:C6925 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4284 ! anal margin carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:12241 name: beta thalassemia def: "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. (DO)" [http://en.wikipedia.org/wiki/Beta_thalassemia "DO", https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO", https://www.ncbi.nlm.nih.gov/books/NBK1426/ "DO", PMID:10395635 "DO", PMID:31030806 "DO"] synonym: "beta0^ thalassemia" NARROW [] synonym: "beta^0^ Thalassemia" NARROW [] synonym: "Beta-e-thalassemia" NARROW [] synonym: "Beta-Houston-thalassemia" NARROW [] synonym: "BETA-MALAY-THALASSEMIA" NARROW [] synonym: "BETA-THALASSEMIA DOMINANT" NARROW [] synonym: "BETA-THALASSEMIA HBB/LCRB" NARROW [] synonym: "Beta-thalassemia, lermontov type" EXACT [] synonym: "beta thalassemias" EXACT [] synonym: "beta Type Microcytemia" EXACT [] synonym: "beta Type Microcytemias" EXACT [] synonym: "beta Type Thalassemia" EXACT [] synonym: "beta Type Thalassemias" EXACT [] synonym: "BETA ZERO THALASSEMIA" NARROW [] synonym: "Erythroblastic Anemia" EXACT [] synonym: "erythroblastic anemias" EXACT [] synonym: "HEMOGLOBIN AGENOGI" RELATED [] synonym: "HEMOGLOBIN AUBAGNE" RELATED [] synonym: "Hemoglobin Brescia" RELATED [] synonym: "HEMOGLOBIN CARIBBEAN" RELATED [] synonym: "hemoglobin City of Hope" RELATED [] synonym: "HEMOGLOBIN DEER LODGE" RELATED [] synonym: "Hemoglobin Durham-N.C." RELATED [] synonym: "HEMOGLOBIN E (SASKATOON)" RELATED [] synonym: "Hemoglobin F Disease" EXACT [] synonym: "HEMOGLOBIN HK" RELATED [] synonym: "HEMOGLOBIN HOFU" RELATED [] synonym: "HEMOGLOBIN HRADEC KRALOVE" RELATED [] synonym: "Hemoglobin J (Cambridge)" RELATED [] synonym: "HEMOGLOBIN J (RAMBAM)" RELATED [] synonym: "Hemoglobin Mississippi" RELATED [] synonym: "Hemoglobin MS" RELATED [] synonym: "HEMOGLOBIN Q (INDIA)" RELATED [] synonym: "hemoglobin Saki" RELATED [] synonym: "hemoglobin Siriraj" RELATED [] synonym: "Mediterranean anemia" EXACT [] xref: GARD:871 xref: ICD10CM:D56.1 xref: ICD9CM:282.44 xref: MESH:D017086 xref: MIM:613985 xref: MONDO:0019402 xref: NCI:C34375 xref: ORDO:848 is_a: DOID:10241 ! thalassemia [Term] id: DOID:12246 name: histoplasmosis meningitis synonym: "histoplasmosis with meningitis" EXACT [] xref: ICD9CM:115.91 is_a: DOID:11608 ! fungal meningitis is_a: DOID:1731 ! histoplasmosis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12253 name: testicular lymphoma synonym: "lymphoma of the testis" EXACT [] synonym: "malignant lymphoma of testis" EXACT [SNOMEDCT_2005_07_31:277664004] xref: NCI:C6810 is_a: DOID:0060058 ! lymphoma is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12257 name: medulloadrenal hyperfunction xref: ICD10CM:E27.5 xref: ICD9CM:255.6 xref: RDO:9004082 is_a: DOID:9553 ! adrenal gland disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12259 name: hemophilia B def: "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm "DO"] synonym: "Christmas disease" EXACT [] synonym: "congenital factor IX deficiency" EXACT [] synonym: "congenital factor IX disorder" EXACT [] synonym: "F9 deficiencies" EXACT [] synonym: "F9 Deficiency" EXACT [] synonym: "factor IX deficiencies" EXACT [] synonym: "factor IX deficiency" EXACT [] synonym: "functional factor IX deficiency," EXACT [] synonym: "Haemophilia B" EXACT [] synonym: "HEMB" EXACT [] synonym: "hemophilia B(M)" EXACT [] synonym: "hemophilia B Brandenburg" NARROW [] synonym: "HEMOPHILIA B, FACTOR IX DEFICIENCY" EXACT [] synonym: "hemophilia B Leyden" NARROW [] synonym: "hereditary factor IX deficiency disease" EXACT [] synonym: "plasma thromboplastin component deficiency" EXACT [] synonym: "plasma thromboplastin component deficiency hemophilia B(M)" NARROW [] xref: EFO:0009154 xref: GARD:8732 xref: ICD10CM:D67 xref: ICD9CM:286.1 xref: MESH:D002836 xref: MIM:306900 xref: MONDO:0010604 xref: NCI:C26721 xref: OMIA:000438 xref: ORDO:98879 is_a: DOID:0061030 ! hemophilia is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:12265 name: chronic salpingo-oophoritis synonym: "chronic salpingitis/oophoritis" EXACT [] synonym: "chronic salpingitis and oophoritis" EXACT [] xref: ICD10CM:N70.1 xref: ICD9CM:614.1 is_a: DOID:10972 ! salpingo-oophoritis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1227 name: neutropenia def: "A decrease in the number of NEUTROPHILS found in the blood." [MESH:D009503] synonym: "neutropenias" EXACT [] xref: ICD10CM:D70 xref: ICD9CM:288.0 xref: MESH:D009503 xref: MONDO:0001475 xref: NCI:C80520 is_a: DOID:12987 ! agranulocytosis [Term] id: DOID:12270 name: coloboma def: "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)" [http://en.wikipedia.org/wiki/Coloboma "DO", http://ghr.nlm.nih.gov/condition/coloboma "DO"] synonym: "agenesis of macula" EXACT [] synonym: "chorioretinal coloboma" NARROW [] synonym: "COI" EXACT [] synonym: "coloboma of eye" EXACT [] synonym: "coloboma of iris, choroid, and retina" EXACT [] synonym: "colobomas" EXACT [] synonym: "congenital ocular coloboma" EXACT [] synonym: "ocular coloboma" EXACT [] synonym: "ocular coloboma, autosomal dominant" NARROW [] synonym: "ocular coloboma, autosomal recessive" NARROW [] synonym: "SALL2-related condition" EXACT [] synonym: "uveoretinal coloboma" EXACT [] xref: GARD:1433 xref: ICD10CM:Q13.0 xref: MESH:D003103 xref: MIM:120300 xref: MIM:216820 xref: MONDO:0001476 xref: NCI:C98877 xref: ORDO:194 xref: ORDO:98945 is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:12271 name: aniridia def: "An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)" [https://medlineplus.gov/genetics/condition/aniridia/ "DO"] synonym: "absent iris" EXACT [] synonym: "AN" EXACT [] synonym: "aplasia of iris" EXACT [] synonym: "atypical aniridia" NARROW [] synonym: "CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY" NARROW [] synonym: "congenital aniridia" EXACT [] synonym: "irideremia" EXACT [] synonym: "isolated aniridia" EXACT [] xref: EFO:0004132 xref: GARD:5816 xref: ICD10CM:Q13.1 xref: ICD9CM:743.45 xref: MESH:D015783 xref: MIM:PS106210 xref: MONDO:0019172 xref: NCI:C84563 xref: ORDO:250923 is_a: DOID:240 ! iris disease is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:12273 name: anisometropia def: "A condition of an inequality of refractive power of the two eyes." [MESH:D015858] xref: ICD10CM:H52.31 xref: ICD9CM:367.31 xref: MESH:D015858 is_a: DOID:9835 ! refractive error [Term] id: DOID:12275 name: cutaneous diphtheria def: "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. (DO)" [http://en.wikipedia.org/wiki/Diphtheria "DO", http://www.merck.com/mmpe/sec14/ch172/ch172c.html "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746 "DO"] xref: EFO:1000683 xref: ICD10CM:A36.3 xref: ICD9CM:032.85 xref: NCI:C34544 is_a: DOID:4223 ! pyoderma [Term] id: DOID:12276 name: malignant tumor of undescended testis synonym: "malignant neoplasm of retained testis" EXACT [] synonym: "malignant neoplasm of undescended testis" EXACT [] synonym: "malignant tumor of retained testis" EXACT [] synonym: "malignant tumour of retained testis" EXACT [] synonym: "malignant tumour of undescended testis" EXACT [] xref: ICD10CM:C62.0 xref: ICD9CM:186.0 xref: MONDO:0001480 is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12282 name: femoral vein thrombophlebitis synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT [] synonym: "thrombophlebitis of deep femoral vein" EXACT [] synonym: "thrombophlebitis of the femoral vein" EXACT [] xref: ICD10CM:I80.1 xref: ICD9CM:451.11 is_a: DOID:3875 ! thrombophlebitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12286 name: testicular leukemia xref: NCI:C9277 is_a: DOID:1240 ! leukemia is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12287 name: Crimean-Congo hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm "DO", http://www.who.int/mediacentre/factsheets/fs208/en/ "DO"] synonym: "CHF Congo virus" EXACT [] synonym: "Congo virus infection" EXACT [] synonym: "Congo Virus Infections" EXACT [] synonym: "Crimean hemorrhagic fever" EXACT [] xref: ICD10CM:A98.0 xref: ICD9CM:065.0 xref: MESH:D006479 xref: MONDO:0020501 xref: NCI:C34682 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:1229 name: paranoid schizophrenia def: "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. (DO)" [http://en.wikipedia.org/wiki/Paranoid_schizophrenia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm "DO"] synonym: "chronic paranoid schizophrenia" EXACT [] synonym: "paranoid schizophrenias" EXACT [] synonym: "paranoid type schizophrenia" EXACT [] synonym: "paranoid type schizophrenia subchronic state" EXACT [] synonym: "paraphrenia - late" EXACT [] synonym: "paraphrenic schizophrenia" EXACT [] xref: ICD10CM:F20.0 xref: ICD9CM:295.3 xref: ICD9CM:295.32 xref: MESH:D012563 xref: NCI:C35006 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:12294 name: atypical depressive disorder def: "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "Atypical depression" EXACT [SNOMEDCT_2005_07_31:192371004] xref: ICD10CM:F32.89 xref: ICD9CM:296.82 xref: RDO:9003234 is_a: DOID:3324 ! mood disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12297 name: Vogt-Koyanagi-Harada disease def: "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. (DO)" [http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome "DO"] synonym: "Harada's disease" EXACT [] synonym: "uveomeningoencephalitic syndrome" EXACT [] synonym: "uveomeningoencephalitides" EXACT [] synonym: "Uveomeningoencephalitis" EXACT [] synonym: "VKH Syndrome" EXACT [] synonym: "VKH Syndrome (Vogt Koyanagi Harada)" EXACT [] synonym: "Vogt Koyanagi Harada syndrome" EXACT [] synonym: "Vogt-Koyanagi syndrome" EXACT [] xref: GARD:7862 xref: ICD10CM:H20.82 xref: ICD9CM:364.24 xref: MESH:D014607 xref: MONDO:0018092 xref: NCI:C85218 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:13141 ! uveitis is_a: DOID:225 ! syndrome is_a: DOID:438 ! autoimmune disease of the nervous system [Term] id: DOID:12298 name: intrahepatic gall duct cancer synonym: "Ca intrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [] synonym: "malignant neoplasm of intrahepatic gall duct" EXACT [] xref: ICD9CM:155.1 xref: MONDO:0001487 is_a: DOID:3121 ! gallbladder cancer created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:12304 name: conjunctival pigmentation xref: EFO:1000682 xref: ICD10CM:H11.13 xref: ICD9CM:372.55 xref: MONDO:0006537 is_a: DOID:10123 ! pigmentation disease is_a: DOID:11653 ! conjunctival deposit created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12305 name: Bloch-Sulzberger syndrome def: "A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages." [MESH:D007184] synonym: "Bloch-Siemens-Sulzberger syndrome" EXACT [] synonym: "Bloch-Siemens syndrome" EXACT [] synonym: "incontinentia pigmenti" EXACT [] synonym: "INCONTINENTIA PIGMENTI, ATYPICAL" NARROW [] synonym: "incontinentia pigmenti, familial male-lethal type" EXACT [] synonym: "Incontinentia pigmenti syndrome" EXACT [] synonym: "incontinentia pigmenti, type II" EXACT [] synonym: "incontinentia pigmenti, type II, atypical" NARROW [] synonym: "IP" EXACT [] synonym: "IP2" EXACT [] xref: ICD10CM:Q82.3 xref: MESH:C531716 xref: MESH:D007184 xref: MIM:308300 xref: MONDO:0010631 xref: NCI:C84787 xref: ORDO:464 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:12306 name: vitiligo alt_id: MIM:193200 alt_id: MIM:606579 alt_id: MIM:607836 alt_id: MIM:608391 alt_id: MIM:608392 alt_id: MIM:609400 def: "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. (DO)" [http://en.wikipedia.org/wiki/Vitiligo "DO"] synonym: "AIS1" RELATED [] synonym: "AIS2" RELATED [] synonym: "AIS3" RELATED [] synonym: "AIS4" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 1" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 2" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 3" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 4" RELATED [] synonym: "SLEV1" EXACT [] synonym: "VAMAS1" RELATED [] synonym: "VAMAS2" RELATED [] synonym: "VAMAS3" RELATED [] synonym: "VAMAS4" RELATED [] synonym: "VAMAS5" RELATED [] synonym: "VAMAS6" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 3" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 4" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 5" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6" RELATED [] synonym: "vitiligo-related systemic lupus erythematosus" EXACT [] synonym: "VTLG" EXACT [] xref: EFO:0004208 xref: GARD:10751 xref: ICD10CM:L80 xref: ICD9CM:709.01 xref: MESH:D014820 xref: NCI:C26915 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:12307 name: anterior corneal pigmentation synonym: "anterior corneal pigmentations" EXACT [] xref: ICD10CM:H18.01 xref: ICD9CM:371.11 xref: MONDO:0001488 is_a: DOID:11547 ! corneal deposit created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12308 name: Dubin-Johnson syndrome alt_id: MIM:237500 def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. (DO)" [http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome "DO"] synonym: "ABCC2-RELATED CONDITION" EXACT [] synonym: "chronic idiopathic jaundice" EXACT [] synonym: "chronic idiopathic jaundices" EXACT [] synonym: "DJS" EXACT [] synonym: "HBLRDJ" EXACT [] synonym: "Hyperbilirubinemia 2" EXACT [] synonym: "HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE" EXACT [] synonym: "Hyperbilirubinemia II" EXACT [] xref: GARD:6289 xref: ICD10CM:E80.6 xref: MESH:D007566 xref: NCI:C34741 is_a: DOID:2383 ! neonatal jaundice is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:12309 name: urticaria pigmentosa def: "The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." [MESH:D014582] synonym: "Maculopapular Cutaneous Mastocytosis" EXACT [] synonym: "UP/MPCM" EXACT [] xref: EFO:1001229 xref: MESH:D014582 xref: MONDO:0019316 xref: NCI:C3433 xref: ORDO:79457 is_a: DOID:10123 ! pigmentation disease is_a: DOID:3663 ! cutaneous mastocytosis [Term] id: DOID:12311 name: stromal corneal pigmentation synonym: "stromal corneal pigmentations" EXACT [] xref: EFO:1000770 xref: ICD10CM:H18.06 xref: ICD9CM:371.12 xref: RDO:9003426 is_a: DOID:10123 ! pigmentation disease is_a: DOID:11547 ! corneal deposit created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12318 name: granular corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO"] xref: ICD10CM:H18.53 xref: ICD9CM:371.53 xref: MONDO:0001490 xref: NCI:C34651 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:12323 name: cough variant asthma def: "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. (DO)" [PMID:19272144 "DO"] xref: ICD10CM:J45.991 xref: ICD9CM:493.82 is_a: DOID:0080809 ! chronic asthma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:12325 name: kyphoscoliotic heart disease xref: ICD10CM:I27.1 xref: ICD9CM:416.1 is_a: DOID:12326 ! chronic pulmonary heart disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12326 name: chronic pulmonary heart disease xref: ICD9CM:416.8 xref: RDO:9002765 is_a: DOID:8515 ! Cor pulmonale created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12328 name: marasmus def: "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. (DO)" [https://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf "DO"] synonym: "nutritional atrophy" EXACT [] synonym: "nutritional marasmus" EXACT [] xref: EFO:1001033 xref: ICD10CM:E41 xref: ICD9CM:261 xref: MONDO:0006848 is_a: DOID:11801 ! protein-energy malnutrition created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1233 name: transvestism def: "Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994)" [MESH:D014190] synonym: "cross dresser" EXACT [] synonym: "dual-role transvestism" EXACT [] synonym: "fetishistic transvestism" EXACT [] synonym: "Transvestic Fetishism" EXACT [] synonym: "Transvestic Fetishisms" EXACT [] synonym: "Transvestisms" EXACT [] xref: ICD10CM:F64.1 xref: ICD9CM:302.3 xref: MESH:D014190 xref: NCI:C94359 is_a: DOID:0060044 ! paraphilia disorder is_a: DOID:1235 ! fetishism [Term] id: DOID:12332 name: hematocele of tunica vaginalis testis def: "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the TESTIS leading to testicular hematocele or scrotal hematocele." [MESH:D006398] synonym: "hematocele" EXACT [] synonym: "hematoceles" EXACT [] synonym: "male hematocele" EXACT [] synonym: "Scrotal Hematocele" EXACT [] synonym: "scrotal hematoceles" EXACT [] synonym: "testicular hematocele" EXACT [] synonym: "testicular hematoceles" EXACT [] xref: MESH:D006398 is_a: DOID:2519 ! testicular disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:12333 name: male genital organ stricture synonym: "stricture of male genital organs" EXACT [] xref: ICD9CM:608.85 xref: MONDO:0001496 is_a: DOID:48 ! male reproductive system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:12335 name: male genital organ vascular disease synonym: "vascular disorder of male genital organs" EXACT [] xref: ICD10CM:N50.1 xref: ICD9CM:608.83 xref: RDO:9004654 is_a: DOID:178 ! vascular disease is_a: DOID:48 ! male reproductive system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:12336 name: male infertility def: "The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." [MESH:D007248] synonym: "MALE INFERTILITY DUE TO GONADAL DYSGENESIS OR SPERM DISORDER" NARROW [] synonym: "male sterility" EXACT [] synonym: "male sub-fertility" EXACT [] synonym: "male subfertility" EXACT [] xref: EFO:0004248 xref: ICD10CM:N46 xref: ICD9CM:606 xref: MESH:D007248 is_a: DOID:48 ! male reproductive system disease is_a: DOID:5223 ! infertility [Term] id: DOID:12337 name: varicocele def: "A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646] synonym: "scrotal varices" EXACT [] synonym: "Varicoceles" EXACT [] xref: ICD10CM:I86.1 xref: ICD9CM:456.4 xref: MESH:D014646 is_a: DOID:178 ! vascular disease is_a: DOID:48 ! male reproductive system disease is_a: DOID:9742 ! pelvic varices [Term] id: DOID:12339 name: retroperitoneal lymphoma xref: MONDO:0001499 xref: NCI:C7353 is_a: DOID:0060058 ! lymphoma is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:1234 name: gender incongruence alt_id: DOID:10919 alt_id: MIM:600952 def: "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm "DO"] synonym: "gender identify disorder" EXACT [] synonym: "gender identity disorder" EXACT [] synonym: "transsexualism" EXACT [] synonym: "transsexuality" EXACT [] xref: EFO:0008587 xref: ICD10CM:F64.2 xref: ICD9CM:302.50 xref: ICD9CM:302.6 xref: MESH:D014189 is_a: DOID:0060043 ! sexual health disorder created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12341 name: retroperitoneal sarcoma def: "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. (DO)" [http://en.wikipedia.org/wiki/Retroperitoneal_space "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/ "DO"] xref: NCI:C4832 is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:12342 name: retroperitoneum carcinoma synonym: "carcinoma of Retroperitoneum" EXACT [] synonym: "carcinoma of the retroperitoneum" EXACT [] xref: NCI:C7352 is_a: DOID:305 ! carcinoma is_a: DOID:5875 ! retroperitoneal cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:12347 name: osteogenesis imperfecta alt_id: OMIA:000754 alt_id: OMIA:002112 def: "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)" [http://en.wikipedia.org/wiki/Osteogenesis_imperfecta "DO", http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00051 "DO", http://osteogenesisimperfecta.org/ "DO", http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm "DO"] synonym: "brittle bone disease" EXACT [] synonym: "Fragilitas Ossium" EXACT [] synonym: "KIF5B-RELATED OSTEOGENESIS IMPERFECTA SYNDROME" NARROW [] synonym: "Lobstein's Disease" EXACT [] synonym: "Lobstein's syndrome" EXACT [] synonym: "Lobstein Disease" EXACT [] synonym: "Lobsteins Disease" EXACT [] synonym: "mild osteogenesis imperfecta" NARROW [] synonym: "osteogenesis imperfecta, recessive" NARROW [] synonym: "osteogenesis imperfecta with blue sclerae" EXACT [] synonym: "osteopenic nonfracture syndrome" NARROW [] synonym: "osteopsathyrosis" EXACT [] synonym: "Vrolik's disease" EXACT [] xref: GARD:1017 xref: ICD9CM:756.51 xref: MESH:D010013 xref: MIM:PS166200 xref: NCI:C26837 xref: NCI:C99003 xref: ORDO:666 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:854 ! collagen disease [Term] id: DOID:12349 name: primary eye hypotony synonym: "primary hypotony of eye" EXACT [] xref: ICD10CM:H44.44 xref: ICD9CM:360.31 xref: RDO:9004884 is_a: DOID:790 ! ocular hypotension created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:1235 name: fetishism def: "A condition in which inanimate objects are utilized as a preferred or exclusive method of stimulating erotic arousal." [MESH:D005329] synonym: "Fetishism (Psychiatric)" EXACT [] synonym: "Fetishisms (Psychiatric)" EXACT [] xref: ICD10CM:F65.0 xref: ICD9CM:302.81 xref: MESH:D005329 xref: NCI:C94353 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:12351 name: alcoholic hepatitis def: "INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." [MESH:D006519] synonym: "acute alcoholic hepatitis" EXACT [] synonym: "acute alcoholic liver disease" EXACT [] synonym: "chronic alcoholic hepatitis" EXACT [] xref: EFO:1001345 xref: ICD9CM:571.1 xref: MESH:D006519 xref: NCI:C34352 is_a: DOID:0070658 ! alcohol-associated liver disease is_a: DOID:2237 ! hepatitis [Term] id: DOID:12355 name: prostatocystitis xref: ICD10CM:N41.3 xref: ICD9CM:601.3 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12357 name: viral labyrinthitis def: "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. (DO)" [http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false "DO"] synonym: "epidemic vertigo" EXACT [] xref: ICD9CM:386.35 is_a: DOID:1468 ! labyrinthitis is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12358 name: patulous eustachian tube def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false "DO"] xref: GARD:10812 xref: ICD10CM:H69.0 xref: ICD9CM:381.7 xref: RDO:9003838 is_a: DOID:9739 ! eustachian tube disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12359 name: endocrine exophthalmos xref: ICD9CM:376.2 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12360 name: lateral displacement of eye synonym: "lateral displacement of globe" EXACT [] xref: ICD10CM:H05.21 xref: ICD9CM:376.36 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12361 name: Graves' disease alt_id: MIM:275000 alt_id: MIM:300351 alt_id: MIM:603372 alt_id: MIM:603388 def: "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. (DO)" [http://en.wikipedia.org/wiki/Graves_disease "DO"] synonym: "autoimmune hyperthyroidism" EXACT [] synonym: "Basedow's disease" EXACT [] synonym: "Basedow disease" EXACT [] synonym: "Basedows disease" EXACT [] synonym: "exophthalmic goiter" EXACT [] synonym: "exophthalmic goiters" EXACT [] synonym: "Grave's disease" EXACT [] synonym: "Graves disease" EXACT [] synonym: "Graves disease, susceptibility to, 1" RELATED [] synonym: "Graves disease, susceptibility to, 2" RELATED [] synonym: "Graves disease, susceptibility to, X-linked 1" RELATED [] synonym: "Graves hyperthyroidism" EXACT [] synonym: "GRD" EXACT [] synonym: "GRD1" RELATED [] synonym: "GRD2" RELATED [] synonym: "GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2" RELATED [] synonym: "GRDX2" RELATED [] synonym: "Hyperthyroidism, Autoimmune Graves Disease, Susceptibility To, 1" RELATED [] xref: EFO:0004237 xref: ICD10CM:E05.0 xref: MESH:D006111 xref: NCI:C3071 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:12176 ! goiter is_a: DOID:7998 ! hyperthyroidism is_a: DOID:930 ! orbital disease [Term] id: DOID:12362 name: thyrotoxic exophthalmos xref: ICD9CM:376.21 xref: RDO:9003019 is_a: DOID:12359 ! endocrine exophthalmos created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12363 name: intermittent proptosis synonym: "intermittent exophthalmos" EXACT [] xref: ICD10CM:H05.25 xref: ICD9CM:376.34 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12364 name: pulsating exophthalmos xref: ICD10CM:H05.26 xref: ICD9CM:376.35 xref: RDO:9003029 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12365 name: malaria alt_id: MIM:609148 alt_id: MIM:611162 def: "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. (DO)" [http://en.wikipedia.org/wiki/Malaria "DO", https://www.merriam-webster.com/dictionary/malaria#medicalDictionary "DO"] synonym: "CR1-RELATED CONDITION" RELATED [] synonym: "DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE" RELATED [] synonym: "G6PD-RELATED DISORDER" RELATED [] synonym: "Glycophorin C, Gerbich Variant" RELATED [] synonym: "GYPC-RELATED CONDITION" RELATED [] synonym: "ICAM1-RELATED CONDITION" EXACT [] synonym: "induced malaria" EXACT [] synonym: "MALARIA, CEREBRAL, RESISTANCE TO" RELATED [] synonym: "MALARIA, CEREBRAL, SUSCEPTIBILITY TO" RELATED [] synonym: "MALARIA, MILD, SUSCEPTIBILITY TO" RELATED [] synonym: "MALARIA, RESISTANCE TO" RELATED [] synonym: "MALARIA, SEVERE, RESISTANCE TO" RELATED [] synonym: "MALARIA, SEVERE, SUSCEPTIBILITY TO" RELATED [] synonym: "MALS" EXACT [] synonym: "marsh fever" EXACT [] synonym: "NCR3-RELATED CONDITION" EXACT [] synonym: "NOS2-RELATED CONDITION" EXACT [] synonym: "paludism" EXACT [] synonym: "Plasmodium Infection" EXACT [] synonym: "Plasmodium Infections" EXACT [] synonym: "plasmodium vivax, resistance to" RELATED [] synonym: "remittent fever" EXACT [] synonym: "susceptibility to malaria" RELATED [] xref: EFO:0001068 xref: EFO:0009157 xref: GARD:6961 xref: ICD10CM:B54 xref: ICD9CM:084 xref: MESH:D008288 xref: NCI:C34797 xref: ORDO:673 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9000518 ! Parasitemia [Term] id: DOID:12369 name: prolapse of urethra def: "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. (DO)" [https://en.wikipedia.org/wiki/Urethrocele "DO"] synonym: "urethrocele" EXACT [] xref: ICD10CM:N81.0 xref: ICD9CM:618.03 xref: NCI:C123256 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1237 name: corneal degeneration xref: ICD10CM:H18.4 xref: ICD9CM:371.4 is_a: DOID:10124 ! corneal disease is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12375 name: bronchopneumonia def: "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. (DO)" [https://www.merriam-webster.com/dictionary/bronchopneumonia#medicalDictionary "DO"] synonym: "Bronchial Pneumonia" EXACT [] synonym: "Bronchial Pneumonias" EXACT [] synonym: "Bronchopneumonias" EXACT [] synonym: "chest infection - bronchopneumonia" EXACT [] synonym: "lobular pneumonia" EXACT [] xref: EFO:0007184 xref: ICD10CM:J18.0 xref: ICD9CM:485 xref: MESH:D001996 xref: NCI:C26710 is_a: DOID:1176 ! bronchial disease is_a: DOID:552 ! pneumonia [Term] id: DOID:12376 name: juvenile spinal muscular atrophy def: "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO"] synonym: "juvenile muscular atrophy" EXACT [] synonym: "Kugelberg-Welander disease" EXACT [] synonym: "Kugelberg-Welander syndrome" EXACT [] synonym: "KWS" EXACT [] synonym: "SMA3" EXACT [] synonym: "SMA III" EXACT [] synonym: "spinal muscular atrophy, familial" EXACT [] synonym: "spinal muscular atrophy, mild childhood and adolescent form" EXACT [] synonym: "spinal muscular atrophy type 3" EXACT [] synonym: "spinal muscular atrophy type III" EXACT [] xref: ICD9CM:335.11 xref: MIM:253400 xref: MONDO:0009672 xref: NCI:C118847 is_a: DOID:0060160 ! childhood spinal muscular atrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:12377 name: spinal muscular atrophy def: "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)" [http://en.wikipedia.org/wiki/Spinal_muscular_atrophy "DO", https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO", https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy "DO", PMID:26022173 "DO"] synonym: "adult onset spinal muscular atrophy" EXACT [] synonym: "bulbospinal neuronopathies" EXACT [] synonym: "bulbospinal neuronopathy" EXACT [] synonym: "distal spinal muscular atrophy" EXACT [] synonym: "hereditary motor neuronopathies" EXACT [] synonym: "hereditary motor neuronopathy" EXACT [] synonym: "myelopathic muscular atrophy" EXACT [] synonym: "oculopharyngeal spinal muscular atrophy" EXACT [] synonym: "progressive myelopathic muscular atrophy" EXACT [] synonym: "progressive proximal myelopathic muscular atrophy" EXACT [] synonym: "proximal spinal muscular atrophy" NARROW [] synonym: "spinal amyotrophies" EXACT [] synonym: "spinal amyotrophy" EXACT [] synonym: "spinal muscular atrophy, dominant" NARROW [] xref: EFO:0003823 xref: EFO:0008525 xref: GARD:7674 xref: ICD10CM:G12.9 xref: ICD9CM:335.1 xref: MESH:D009134 xref: NCI:C85075 is_a: DOID:231 ! motor neuron disease is_a: DOID:319 ! spinal cord disease [Term] id: DOID:12382 name: complex partial epilepsy def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [MESH:D017029] synonym: "complex partial epileptic seizure" EXACT [] synonym: "complex partial seizure disorder" EXACT [] synonym: "cryptogenic partial complex epilepsy" EXACT [] synonym: "Disorder, Complex Partial Seizures" EXACT [] synonym: "Psychic Equivalent Epilepsy" EXACT [] synonym: "psychomotor epilepsy" EXACT [] synonym: "symptomatic partial complex epilepsy" EXACT [] xref: EFO:1000877 xref: MESH:D017029 xref: MONDO:0006710 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:12384 name: dysentery def: "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO", http://en.wikipedia.org/wiki/Dysentery "DO", http://www.who.int/topics/dysentery/en/ "DO", https://www.merriam-webster.com/dictionary/dysentery#medicalDictionary "DO"] synonym: "Infectious diarrhea" EXACT [] synonym: "infectious diarrheal disease" EXACT [] synonym: "infectious diarrheal diseases" EXACT [] xref: EFO:1001869 xref: ICD9CM:009.2 xref: MESH:D004403 is_a: DOID:100 ! intestinal infectious disease is_a: DOID:2326 ! gastroenteritis [Term] id: DOID:12385 name: shigellosis def: "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. (DO)" [http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh "DO"] synonym: "Bacillary Dysentery" EXACT [] synonym: "Dysentery, Shigella dysenteriae type 1" EXACT [] synonym: "Shiga bacillus Dysentery" EXACT [] synonym: "Shigella boydii dysenteries" EXACT [] synonym: "Shigella boydii Dysentery" EXACT [] synonym: "Shigella boydii infectious disease" EXACT [] synonym: "Shigella dysenteriae Dysenteries" EXACT [] synonym: "Shigella dysenteriae Dysentery" EXACT [] synonym: "Shigella Dysenteries" EXACT [] synonym: "Shigella Dysentery" EXACT [] synonym: "Shigella flexneri Dysenteries" EXACT [] synonym: "Shigella flexneri Dysentery" EXACT [] synonym: "Shigella flexneri infectious disease" EXACT [] synonym: "Shigella gastroenteritis" EXACT [] synonym: "Shigella sonnei Dysenteries" EXACT [] synonym: "Shigella sonnei dysentery" EXACT [] synonym: "Shigella sonnei infectious disease" EXACT [] xref: EFO:0005585 xref: GARD:4818 xref: ICD10CM:A03 xref: ICD10CM:A03.0 xref: ICD10CM:A03.1 xref: ICD10CM:A03.2 xref: ICD9CM:004 xref: ICD9CM:004.0 xref: ICD9CM:004.1 xref: ICD9CM:004.2 xref: MESH:D004405 xref: NCI:C157978 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:12384 ! dysentery is_a: DOID:5353 ! colonic disease is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:12386 name: balantidiasis def: "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. (DO)" [PMID:14760781 "DO"] synonym: "Balantidiosis" EXACT [] synonym: "Balantidium coli infection" EXACT [] synonym: "B coli infection" EXACT [] synonym: "human balantidiasis" NARROW [] synonym: "large-intestinal infection with Balantidium coli" EXACT [] xref: EFO:0007163 xref: GARD:809 xref: ICD10CM:A07.0 xref: ICD9CM:007.0 xref: MESH:D001447 xref: MONDO:0005662 xref: NCI:C84583 is_a: DOID:9002892 ! Parasitic Intestinal Diseases is_a: DOID:9006772 ! Ciliophora Infections [Term] id: DOID:12387 name: nephrogenic diabetes insipidus def: "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). (DO)" [http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus "DO", http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus "DO", https://medlineplus.gov/ency/article/000511.htm "DO"] synonym: "acquired nephrogenic diabetes insipidus" EXACT [] synonym: "ADH-Resistant Diabetes Insipidus" EXACT [] synonym: "Congenital Nephrogenic Diabetes Insipidus" EXACT [] synonym: "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT" NARROW [] synonym: "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Diabetes Insipidus Renalis" EXACT [] synonym: "NDI" EXACT [] synonym: "vasopressin-resistant diabetes insipidus" EXACT [] xref: GARD:7178 xref: ICD10CM:N25.1 xref: ICD9CM:588.1 xref: MESH:D018500 xref: NCI:C84919 xref: ORDO:223 is_a: DOID:557 ! kidney disease is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:12388 name: neurohypophyseal diabetes insipidus def: "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. (DO)" [PMID:15070970 "DO"] synonym: "AVP-related condition" BROAD [] synonym: "CDI" EXACT [] synonym: "diabetes insipidus cranial type" EXACT [] synonym: "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Diabetes Insipidus, Neurohypophyseal Type" EXACT [] synonym: "Diabetes Insipidus Primary Central" EXACT [] synonym: "Diabetes Insipidus Secondary To Vasopressin Deficiency" EXACT [] synonym: "Neurogenic Diabetes Insipidus" EXACT [] synonym: "Pituitary Diabetes Insipidus" EXACT [] synonym: "vasopressin defective diabetes insipidus" EXACT [] synonym: "vasopressin deficiency" EXACT [] xref: MESH:D020790 xref: MIM:125700 xref: MONDO:0007450 xref: NCI:C84933 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081055 ! central diabetes insipidus is_a: DOID:26 ! pancreas disease [Term] id: DOID:12395 name: spastic entropion xref: ICD9CM:374.03 is_a: DOID:12397 ! entropion [Term] id: DOID:12397 name: entropion def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" [] synonym: "Entropions" EXACT [] xref: ICD9CM:374.00 xref: MESH:D004774 is_a: DOID:530 ! eyelid disease [Term] id: DOID:12399 name: pathological gambling alt_id: MIM:606349 def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/ "DO"] synonym: "compulsive gambling" EXACT [] synonym: "gambling" EXACT [] synonym: "pathologic gambling" EXACT [] xref: EFO:0004699 xref: EFO:1001926 xref: ICD10CM:F63.0 xref: ICD9CM:312.31 xref: MESH:D005715 xref: NCI:C94335 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:1240 name: leukemia def: "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. (DO)" [http://en.wikipedia.org/wiki/Leukemia "DO", http://www.cancer.gov/dictionary?CdrID=45343 "DO"] synonym: "leucocythaemia" EXACT [] synonym: "leucocythaemias" EXACT [] synonym: "leucocythemia" EXACT [] synonym: "leucocythemias" EXACT [] synonym: "Leukemia, post-chemotherapy, susceptibility to" RELATED [] synonym: "leukemias" EXACT [] xref: EFO:0000565 xref: ICD10CM:C95.90 xref: ICD9CM:208 xref: ICDO:9800/3 xref: MESH:D007938 xref: MONDO:0005059 xref: NCI:C128120 xref: NCI:C141365 xref: NCI:C21604 xref: NCI:C3161 xref: NCI:C60428 is_a: DOID:2531 ! hematologic cancer is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:12400 name: kleptomania def: "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. (DO)" [https://en.wikipedia.org/wiki/Kleptomania "DO"] synonym: "pathological stealing" EXACT [] xref: ICD10CM:F63.2 xref: ICD9CM:312.32 xref: MONDO:0001520 xref: NCI:C94333 is_a: DOID:10937 ! impulse control disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12401 name: intermittent explosive disorder def: "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. (DO)" [https://en.wikipedia.org/wiki/Intermittent_explosive_disorder "DO"] synonym: "explosive personality disorder" EXACT [] xref: ICD10CM:F63.81 xref: ICD9CM:301.3 xref: ICD9CM:312.34 xref: NCI:C94332 is_a: DOID:10937 ! impulse control disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12402 name: pyromania def: "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. (DO)" [https://en.wikipedia.org/wiki/Pyromania "DO"] synonym: "arson" EXACT [] synonym: "arsons" EXACT [] synonym: "firesetting behavior" EXACT [] synonym: "firesetting behaviors" EXACT [] synonym: "pathological firesetting" EXACT [] synonym: "pyromanias" EXACT [] xref: ICD10CM:F63.1 xref: ICD9CM:312.33 xref: MESH:D005391 xref: NCI:C94334 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:12403 name: tinea pedis def: "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. (DO)" [https://www.merriam-webster.com/dictionary/athlete%27s%20foot#medicalDictionary "DO"] synonym: "athlete's foot" EXACT [] synonym: "athlete foot" EXACT [] synonym: "athletes foot" EXACT [] synonym: "dermatophytosis of foot" EXACT [] synonym: "ringworm of foot" EXACT [] xref: EFO:0007512 xref: ICD10CM:B35.3 xref: ICD9CM:110.4 xref: MESH:D014008 is_a: DOID:8913 ! dermatophytosis is_a: DOID:9003842 ! Foot Dermatoses is_a: DOID:9006202 ! Pruritus [Term] id: DOID:1241 name: luxation of globe synonym: "Luxation of eye" EXACT [SNOMEDCT_2005_07_31:20842008] xref: ICD10CM:H44.82 xref: ICD9CM:360.81 xref: RDO:9003052 is_a: DOID:1242 ! globe disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1242 name: globe disease def: "An eye disease that involves the globe of the eye. (DO)" [https://en.wikipedia.org/wiki/Globe_(human_eye) "DO"] xref: ICD10CM:H44.39 xref: ICD9CM:360.29 is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12424 name: thyrocalcitonin secretion disease synonym: "disorder of thyrocalcitonin secretion" EXACT [] xref: ICD9CM:246.0 xref: MONDO:0001525 is_a: DOID:50 ! thyroid gland disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1243 name: labia minora cancer def: "A vulva cancer that is located_in the labium minora. (DO)" [PMID:13103721 "DO", PMID:24113413 "DO"] synonym: "malignant neoplasm of labia minora" EXACT [] synonym: "malignant neoplasm of labium minus" EXACT [] synonym: "malignant tumor of labia minora" EXACT [] xref: ICD10CM:C51.1 xref: ICD9CM:184.2 xref: NCI:C7637 is_a: DOID:1245 ! vulva cancer is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12445 name: conjugate gaze palsy synonym: "palsy of conjugate gaze" EXACT [] xref: ICD9CM:378.81 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12449 name: aplastic anemia def: "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)" [http://en.wikipedia.org/wiki/Aplastic_anemia "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/ "DO"] synonym: "acquired aplastic anemia" NARROW [] synonym: "aplastic anemias" EXACT [] synonym: "APLASTIC ANEMIA, SUSCEPTIBILITY TO" RELATED [] synonym: "hypoplastic anemia" EXACT [] synonym: "hypoplastic anemias" EXACT [] synonym: "INHERITED APLASTIC ANEMIA" NARROW [] synonym: "SBDS-RELATED CONDITION" BROAD [] synonym: "severe aplastic anemia" NARROW [] xref: EFO:0006926 xref: EFO:0006927 xref: GARD:5836 xref: ICD10CM:D61.9 xref: ICD9CM:284.9 xref: MESH:D000741 xref: MIM:609135 xref: MONDO:0015909 xref: NCI:C2870 xref: ORDO:182040 is_a: DOID:720 ! normocytic anemia is_a: DOID:9007222 ! Bone Marrow Failure Disorders [Term] id: DOID:1245 name: vulva cancer def: "A female reproductive organ cancer that is located_in the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvar_cancer "DO"] synonym: "cancer of the vulva" EXACT [] synonym: "cancer of vulva" EXACT [] synonym: "Ca vulva" EXACT [] synonym: "malignant neoplasm of vulva" EXACT [] synonym: "malignant tumor of vulva" EXACT [] synonym: "malignant vulvar tumor" EXACT [] synonym: "vulva cancers" EXACT [] synonym: "vulval cancer" EXACT [] synonym: "vulvar cancer" EXACT [] synonym: "vulvar cancers" EXACT [] xref: GARD:9349 xref: ICD10CM:C51 xref: ICD9CM:184.4 xref: NCI:C7502 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:9005804 ! Vulvar Neoplasms created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:12450 name: pancytopenia def: "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. (DO)" [https://en.wikipedia.org/wiki/Pancytopenia "DO"] synonym: "pancytopenias" EXACT [] xref: ICD10CM:D61.81 xref: ICD9CM:284.1 xref: MESH:D010198 xref: MONDO:0001529 xref: NCI:C34889 xref: NCI:C80693 is_a: DOID:2355 ! anemia is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12451 name: sulfhemoglobinemia def: "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" [MESH:D013436] synonym: "sulfemoglobinemia" EXACT [] synonym: "sulfhemoglobinemias" EXACT [] xref: EFO:1001200 xref: MESH:D013436 xref: MONDO:0006988 is_a: DOID:620 ! blood protein disease is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12465 name: secondary hyperparathyroidism of renal origin synonym: "hyperparathyroidism due to renal insufficiency" EXACT [SNOMEDCT_2005_07_31:19034001] xref: ICD10CM:N25.81 xref: ICD9CM:588.81 is_a: DOID:12466 ! secondary hyperparathyroidism is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:12466 name: secondary hyperparathyroidism def: "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." [MESH:D006962] synonym: "secondary hyperparathyroidisms" EXACT [] xref: EFO:1001173 xref: MESH:D006962 xref: NCI:C113335 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:1247 name: blood coagulation disease alt_id: DOID:2212 def: "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. (DO)" [https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx "DO"] synonym: "ABNORMALITY OF COAGULATION" EXACT [] synonym: "blood coagulation disorder" EXACT [] synonym: "blood coagulation disorders" EXACT [] synonym: "FIBRINOGEN MILANO XII, DIGENIC" RELATED [] synonym: "postpartum coagulation defect" EXACT [] synonym: "postpartum coagulation defect with delivery" EXACT [] synonym: "protein Z deficiency" NARROW [] synonym: "PROZ-RELATED DISORDER" NARROW [] xref: EFO:0009314 xref: ICD10CM:D68.9 xref: ICD9CM:286 xref: MESH:D001778 xref: NCI:C2902 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12474 name: capillariasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. (DO)" [https://en.wikipedia.org/wiki/Capillariasis "DO"] synonym: "capillaria infection" EXACT [] xref: ICD10CM:B81.1 xref: ICD9CM:127.5 is_a: DOID:409 ! liver disease is_a: DOID:5295 ! intestinal disease is_a: DOID:850 ! lung disease is_a: DOID:9002992 ! Nematode Infections created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:12475 name: pes anserinus bursitis def: "A bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain. (DO)" [https://my.clevelandclinic.org/health/diseases/pes-anserine-bursitis "DO", https://www.ncbi.nlm.nih.gov/books/NBK532941/ "DO"] synonym: "pes anserinus tendinitis or bursitis" EXACT [] xref: ICD9CM:726.61 is_a: DOID:2965 ! bursitis created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:1248 name: ocular hyperemia synonym: "hyperemia eye" EXACT [] synonym: "hyperemia of conjunctiva" EXACT [] is_a: DOID:4251 ! conjunctival disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12491 name: Vagus nerve disease def: "Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen." [MESH:D020421] synonym: "Cranial Nerve X Diseases" EXACT [] synonym: "disorder of pneumogastric [10th] nerve" EXACT [ICD9CM_2006:352.3] synonym: "disorder of vagal nerve" EXACT [MTHICD9_2006:352.3] synonym: "disorder of vagus nerve" EXACT [SNOMEDCT_2005_07_31:73765005] synonym: "Pneumogastric Nerve Disorder" EXACT [] synonym: "Pneumogastric Nerve Disorders" EXACT [] synonym: "Tenth Cranial Nerve Diseases" EXACT [] synonym: "Vagus nerve diseases" EXACT [] synonym: "Vagus Nerve Disorder" EXACT [] synonym: "Vagus Nerve Disorders" EXACT [] synonym: "Vagus Nerve Motor Disorder" EXACT [] synonym: "Vagus Nerve Sensory Disorder" EXACT [] synonym: "Vagus Neuropathies" EXACT [] synonym: "Vagus Neuropathy" EXACT [] xref: ICD10CM:G52.2 xref: ICD9CM:352.3 xref: MESH:D020421 xref: NCI:C27591 xref: RDO:0006815 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:125 name: vagina leiomyoma def: "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. (DO)" [PMID:25672089 "DO"] synonym: "leiomyoma of vagina" EXACT [] xref: NCI:C6373 is_a: DOID:0060114 ! vaginal benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12506 name: Bell's palsy def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). (DO)" [http://en.wikipedia.org/wiki/Bell%27s_palsy "DO"] synonym: "acute idiopathic facial neuropathy" EXACT [] synonym: "acute inflammatory facial neuropathy" EXACT [] synonym: "Bell's (facial) palsy" EXACT [] synonym: "Bell's Palsies" EXACT [] synonym: "Bell palsies" EXACT [] synonym: "Bell palsy" EXACT [] synonym: "herpetic facial paralysis" EXACT [] synonym: "idiopathic facial paralysis" EXACT [] xref: EFO:0007167 xref: GARD:5906 xref: ICD9CM:351.0 xref: MESH:D020330 xref: MONDO:0005665 is_a: DOID:13934 ! facial paralysis is_a: DOID:225 ! syndrome is_a: DOID:9002834 ! Herpesviridae Infections [Term] id: DOID:1251 name: tuberculous epididymitis def: "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. (DO)" [http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html "DO"] xref: ICD9CM:016.4 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:9402 ! epididymitis [Term] id: DOID:12510 name: retinal ischemia def: "An ischemia that is characterized by restriction in blood supply to the retina. (DO)" [http://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf "DO", https://en.wikipedia.org/wiki/Ocular_ischemic_syndrome "DO"] xref: ICD10CM:H35.82 xref: ICD9CM:362.84 xref: MONDO:0001538 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:326 ! ischemia [Term] id: DOID:12514 name: retinal perforation alt_id: RDO:0006479 def: "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." [] synonym: "Retinal Break" EXACT [] synonym: "retinal breaks" EXACT [] synonym: "Retinal Dialyse" EXACT [] synonym: "Retinal Dialyses" EXACT [] synonym: "Retinal dialysis" EXACT [SNOMEDCT_2005_07_31:232003005] synonym: "Retinal Hole" EXACT [] synonym: "Retinal Holes" EXACT [] synonym: "Retinal Perforations" EXACT [] synonym: "Retinal Tear" EXACT [] synonym: "retinal tears" EXACT [] xref: EFO:0010698 xref: MESH:D012167 xref: NCI:C50732 is_a: DOID:5327 ! retinal detachment is_a: DOID:5679 ! retinal disease [Term] id: DOID:1252 name: trichuriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. (DO)" [http://en.wikipedia.org/wiki/Trichuriasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm "DO"] synonym: "infection by Trichuris trichura" EXACT [] synonym: "trichocephaliases" EXACT [] synonym: "Trichocephaliasis" EXACT [] synonym: "Trichuriases" EXACT [] synonym: "Trichuriasis infection" EXACT [] synonym: "trichuris trichiura infection" EXACT [] synonym: "whipworm disease" EXACT [] xref: EFO:0007524 xref: GARD:10720 xref: MESH:D014257 xref: NCI:C128399 is_a: DOID:5295 ! intestinal disease is_a: DOID:9004683 ! Enoplida Infections [Term] id: DOID:12522 name: bagassosis def: "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. (DO)" [http://www.merriam-webster.com/medical/bagassosis "DO"] synonym: "sugar cane worker pneumonitis" EXACT [] xref: ICD10CM:J67.1 xref: ICD9CM:495.1 xref: NCI:C34409 is_a: DOID:10316 ! pneumoconiosis is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:12524 name: plantar nerve lesion synonym: "lesion of plantar nerve" EXACT [] xref: ICD10CM:G57.6 xref: ICD9CM:355.6 is_a: DOID:1187 ! tibial neuropathy is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12526 name: tarsal tunnel syndrome def: "Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" [MESH:D013641] synonym: "Posterior Tibial Nerve Neuralgia" EXACT [] synonym: "Tarsal Tunnel Entrapment Neuropathy" EXACT [] synonym: "Tarsal Tunnel Syndromes" EXACT [] synonym: "Tarsal Tunnel Tibial Neuropathy" EXACT [] xref: EFO:1001208 xref: GARD:7733 xref: ICD10CM:G57.5 xref: ICD9CM:355.5 xref: MESH:D013641 xref: NCI:C85183 xref: RDO:0006673 is_a: DOID:1187 ! tibial neuropathy is_a: DOID:573 ! nerve compression syndrome [Term] id: DOID:12527 name: common peroneal nerve lesion xref: ICD10CM:G57.3 xref: ICD9CM:355.3 is_a: DOID:6925 ! peroneal nerve paralysis is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12528 name: lesion of sciatic nerve synonym: "sciatic nerve lesion" EXACT [] synonym: "sciatic nerve lesions" EXACT [] xref: ICD10CM:G57.0 xref: ICD9CM:355.0 is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12529 name: tibial nerve palsy is_a: DOID:1187 ! tibial neuropathy is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12531 name: von Willebrand's disease def: "A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. (DO)" [http://en.wikipedia.org/wiki/Von_Willebrand_disease "DO", http://ghr.nlm.nih.gov/condition/von-willebrand-disease "DO"] synonym: "Angiohemophilia" EXACT [] synonym: "angiohemophilias" EXACT [] synonym: "HEREDITARY VON WILLEBRAND DISEASE" EXACT [] synonym: "Vascular Hemophilia" EXACT [] synonym: "Vascular Hemophilias" EXACT [] synonym: "vascular pseudohemophilia" EXACT [] synonym: "von Willebrand's factor deficiency" EXACT [] synonym: "von Willebrand's-Jurgens' disease" EXACT [] synonym: "von Willebrand disease" EXACT [] synonym: "von Willebrand disease, recessive form" NARROW [] synonym: "von Willebrand disorder" EXACT [] synonym: "von Willebrand-Jrgens disease" EXACT [] xref: EFO:0003910 xref: GARD:7867 xref: ICD10CM:D68.0 xref: ICD9CM:286.4 xref: MESH:D014842 xref: MONDO:0019565 xref: NCI:C68677 is_a: DOID:0061030 ! hemophilia is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:12537 name: hypermobility of coccyx synonym: "coccygeal hypermobility syndrome" EXACT [] synonym: "hypermobility of the coccyx" EXACT [] xref: ICD9CM:724.71 xref: RDO:9003750 is_a: DOID:1123 ! spondyloarthropathy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1254 name: trichostrongylosis def: "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm "DO"] synonym: "infection by Trichostrongylus" EXACT [] synonym: "infection by Trichostrongylus species" EXACT [] synonym: "trichostrongyliasis" EXACT [] synonym: "Trichostrongyloses" EXACT [] xref: EFO:0007523 xref: ICD10CM:B81.2 xref: ICD9CM:127.6 xref: MESH:D014253 is_a: DOID:1255 ! trichostrongyloidiasis [Term] id: DOID:12546 name: atrophic nonflaccid tympanic membrane xref: ICD10CM:H73.82 xref: ICD9CM:384.82 xref: MONDO:0001547 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:12549 name: hepatitis A def: "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO", https://www.cdc.gov/hepatitis-a/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK459290/ "DO"] synonym: "infectious hepatitis" EXACT [] synonym: "viral hepatitis A" EXACT [] synonym: "viral hepatitis, type A" EXACT [] xref: EFO:0007305 xref: MESH:D006506 xref: MONDO:0005790 xref: NCI:C3096 is_a: DOID:9006549 ! Enterovirus Infections is_a: DOID:9007329 ! Human Viral Hepatitis [Term] id: DOID:1255 name: trichostrongyloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. (DO)" [http://en.wikipedia.org/wiki/Strongylida "DO"] synonym: "trichostrongyloidiases" EXACT [] xref: EFO:0007522 xref: MESH:D014252 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9003369 ! Strongylida Infections [Term] id: DOID:12550 name: hepatic coma synonym: "hepatic comas" EXACT [] synonym: "Hepatocerebral intoxication" EXACT [MTHICD9_2006:572.2] xref: ICD10CM:K72.91 xref: RDO:9004030 is_a: DOID:13413 ! hepatic encephalopathy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12554 name: hemolytic-uremic syndrome def: "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (DO)" [https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1367/ "DO", PMID:15728781 "DO"] synonym: "familial hemolytic uremic syndrome" NARROW [] synonym: "Gasser's syndrome" EXACT [] synonym: "Gasser syndrome" EXACT [] synonym: "haemolytic-uraemic syndrome" EXACT [] synonym: "HEREDITARY HEMOLYTIC UREMIC SYNDROME" NARROW [] synonym: "sporadic hemolytic uremic syndrome" NARROW [] synonym: "typical hemolytic uremic syndrome" EXACT [] xref: GARD:6588 xref: ICD10CM:D59.3 xref: ICD9CM:283.11 xref: MESH:D006463 xref: MIM:PS235400 xref: MONDO:0001549 xref: NCI:C75545 is_a: DOID:225 ! syndrome is_a: DOID:4676 ! uremia is_a: DOID:583 ! hemolytic anemia is_a: DOID:9000326 ! Thrombotic Microangiopathies [Term] id: DOID:12556 name: acute kidney tubular necrosis def: "An acute kidney failure that is characterized by necrosis of epithelial tubule cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/ "DO"] synonym: "acute renal failure with lesion of tubular necrosis" EXACT [] synonym: "acute renal failure with tubular necrosis" EXACT [] synonym: "acute tubular necrosis" EXACT [] synonym: "acute tubule necrosis" EXACT [] synonym: "ATN - acute tubular necrosis" EXACT [] synonym: "Lower Nephron Nephroses" EXACT [] synonym: "Lower Nephron Nephrosis" EXACT [] xref: EFO:1000794 xref: ICD10CM:N17.0 xref: MESH:D007683 xref: NCI:C34749 is_a: DOID:3021 ! acute kidney failure [Term] id: DOID:12557 name: Duane retraction syndrome def: "A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. (DO)" [https://www.genome.gov/Genetic-Disorders/Duane-Syndrome "DO"] synonym: "acrorenoocular syndrome" EXACT [] synonym: "acrorenoocular syndromes" EXACT [] synonym: "co-contractive retraction syndrome" EXACT [] synonym: "co-contractive retraction syndromes" EXACT [] synonym: "DRS" EXACT [] synonym: "Duane's syndrome" EXACT [] synonym: "Duane anomaly" EXACT [] synonym: "Duane syndrome" EXACT [] synonym: "DUS" EXACT [] synonym: "isolated Duane anomalies" EXACT [] synonym: "isolated Duane anomaly" EXACT [] synonym: "isolated Duane retraction syndrome" EXACT [] synonym: "ocular retraction syndrome" EXACT [] synonym: "retraction syndrome" EXACT [] synonym: "Stilling-Turk-Duane syndrome" EXACT [] xref: ICD10CM:H50.81 xref: ICD9CM:378.71 xref: MESH:D004370 xref: MIM:PS126800 xref: MONDO:0007473 xref: NCI:C84678 xref: ORDO:233 is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:12558 name: chronic progressive external ophthalmoplegia def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246] synonym: "chronic progressive external ophthalmoplegia with myopathy, somatic" NARROW [] synonym: "CPEO" EXACT [] synonym: "Graefe's Disease" EXACT [] synonym: "Graefe Disease" EXACT [] synonym: "Mitochondrial Ocular Myopathy" EXACT [] synonym: "Ocular Muscular Dystrophies" EXACT [] synonym: "Ocular Muscular Dystrophy" EXACT [] synonym: "Ocular Myopathy of Von Graefe Fuchs" EXACT [] synonym: "Progressive external ophthalmoplegia" EXACT [] synonym: "progressive external ophthalmoplegia, proximal myopathy, and sudden death" RELATED [] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions" NARROW [] xref: EFO:0002509 xref: GARD:4503 xref: ICD10CM:H49.4 xref: ICD9CM:378.72 xref: MESH:D017246 xref: MIM:PS157640 is_a: DOID:539 ! ophthalmoplegia is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:12559 name: idiopathic juvenile osteoporosis def: "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. (DO)" [http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b "DO", ORDO:85193 "DO"] synonym: "childhood-onset primary osteoporosis" EXACT [] synonym: "idiopathic osteoporosis" EXACT [] synonym: "juvenile osteoporosis" EXACT [] synonym: "juvenile primary osteoporosis" EXACT [] xref: ICD9CM:733.02 xref: MESH:C537700 xref: MIM:259750 xref: MONDO:0019409 is_a: DOID:11476 ! osteoporosis [Term] id: DOID:12566 name: ulceration of vulva def: "A vulvar disease that is characterized by the presence of ulcers. (DO)" [https://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/ "DO"] xref: ICD10CM:N77.0 xref: ICD9CM:616.51 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:12568 name: dyscalculia def: "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. (DO)" [http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities "DO"] synonym: "acalculia" EXACT [] synonym: "Acquired Dyscalculia" EXACT [] synonym: "Developmental Dyscalculia" EXACT [] synonym: "disorder of arithmetical skills" EXACT [] synonym: "Dyscalculias" EXACT [] synonym: "mathematics disorder" EXACT [] synonym: "Primary Dyscalculia" EXACT [] synonym: "Secondary Acalculia" EXACT [] xref: MESH:D060705 xref: MONDO:0001552 is_a: DOID:8927 ! learning disability [Term] id: DOID:12570 name: phacolytic glaucoma def: "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. (DO)" [PMID:30950286 "DO"] xref: ICD9CM:365.51 is_a: DOID:12571 ! phacogenic glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12571 name: phacogenic glaucoma def: "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. (DO)" [https://eyewiki.aao.org/Lens_Induced_Glaucomas "DO"] xref: ICD9CM:365.59 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12573 name: neonatal thyrotoxicosis xref: ICD10CM:P72.1 xref: ICD9CM:775.3 xref: NCI:C114906 is_a: DOID:7997 ! thyrotoxicosis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12574 name: posterior uveitis def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866] xref: EFO:1001119 xref: GARD:4457 xref: MESH:D015866 xref: MONDO:0006918 xref: NCI:C35111 xref: ORDO:280892 is_a: DOID:12030 ! panuveitis [Term] id: DOID:12577 name: urethral obstruction def: "Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void." [MESH:D014524] synonym: "obstruction of urethra" EXACT [] synonym: "urethral obstructions" EXACT [] xref: MESH:D014524 xref: NCI:C79804 is_a: DOID:5200 ! urinary tract obstruction is_a: DOID:732 ! urethral disease [Term] id: DOID:12580 name: Cri-du-Chat syndrome def: "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (DO)" [https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Cri-du-Chat "DO"] synonym: "5p deletion syndrome" EXACT [] synonym: "5p deletion syndromes" EXACT [] synonym: "5p Minus Syndrome" EXACT [] synonym: "5p Minus Syndromes" EXACT [] synonym: "5p partial monosomy syndrome" EXACT [] synonym: "5p Syndrome" EXACT [] synonym: "5p- Syndromes" EXACT [] synonym: "Cat Cry Syndrome" EXACT [] synonym: "Cat Cry Syndromes" EXACT [] synonym: "Chromosome 5p Deletion Syndrome" EXACT [] synonym: "Chromosome 5p- Syndrome" EXACT [] synonym: "Chromosome 5p- Syndromes" EXACT [] synonym: "Chromosome 5 Short Arm Deletion Syndrome" EXACT [] synonym: "Cri-du-Chat Syndromes" EXACT [] synonym: "crying cat syndrome" EXACT [] synonym: "deletion of short arm of chromosome 5 syndrome" EXACT [] xref: GARD:6213 xref: ICD10CM:Q93.4 xref: ICD9CM:758.31 xref: MESH:D003410 xref: MIM:123450 xref: MONDO:0007404 xref: NCI:C34518 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:12581 name: olecranon bursitis def: "A bursitis that is characterized by an inflammation of the bursa, located at the tip of the elbow (olecranon process). (DO)" [https://my.clevelandclinic.org/health/diseases/22553-elbow-olecranon-bursitis "DO", https://www.physio-pedia.com/Olecranon_Bursitis "DO"] synonym: "bursitis of elbow" EXACT [] synonym: "bursitis of elbow region" EXACT [] synonym: "capped elbow" EXACT [] synonym: "elbow bursitis" EXACT [] synonym: "miner's elbow" EXACT [] synonym: "miners' elbow" EXACT [] synonym: "shoe boil" EXACT [] xref: ICD10CM:M70.2 xref: ICD9CM:726.33 is_a: DOID:2965 ! bursitis created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:12583 name: velocardiofacial syndrome def: "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (DO)" [https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome "DO", PMID:19243607 "DO"] synonym: "CHROMOSOME 22q11.2 DELETION SYNDROME" EXACT [] synonym: "conotruncal anomaly face syndrome/velocardiofacial syndrome" EXACT [] synonym: "deletion 22q11.2 syndrome" EXACT [] synonym: "Shprintzen syndrome" EXACT [] synonym: "Shprintzen VCF syndrome" EXACT [] synonym: "VCFS" EXACT [] synonym: "VCF syndrome" EXACT [] synonym: "VCF-velocardiofacial syndrome" EXACT [] synonym: "velo cardio facial syndrome" EXACT [] xref: ICD10CM:Q93.81 xref: ICD9CM:758.32 xref: MIM:192430 xref: MONDO:0008644 is_a: DOID:9001460 ! 22q11 Deletion Syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12594 name: Potter's syndrome def: "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. (DO)" [http://en.wikipedia.org/wiki/Potter_Syndrome "DO", https://en.wikipedia.org/wiki/Potter_sequence "DO", https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome "DO"] synonym: "Potter sequence" EXACT [] synonym: "Potter syndrome" EXACT [] xref: GARD:4462 xref: ICD10CM:Q60.6 xref: NCI:C40435 is_a: DOID:12215 ! oligohydramnios is_a: DOID:14766 ! renal agenesis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1260 name: parametritis def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." [MESH:D010249] synonym: "parametritides" EXACT [] synonym: "pelvic cellulitides" EXACT [] synonym: "pelvic cellulitis" EXACT [] xref: EFO:1001084 xref: MESH:D010249 is_a: DOID:1003 ! pelvic inflammatory disease [Term] id: DOID:12603 name: acute leukemia def: "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. (DO)" [http://en.wikipedia.org/wiki/Acute_leukemia "DO", http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf "DO", http://www.merck.com/mmpe/sec11/ch142/ch142b.html "DO"] synonym: "MIXED PHENOTYPE ACUTE LEUKEMIA, T/MYELOID, NOT OTHERWISE SPECIFIED" NARROW [] synonym: "stem cell leukaemia" EXACT [] synonym: "stem cell leukemia" EXACT [] xref: EFO:1000068 xref: ICD10CM:C95.00 xref: ICD9CM:208.0 xref: ICDO:9801/3 xref: NCI:C9300 is_a: DOID:1037 ! lymphoid leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12637 name: perineocele def: "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. (DO)" [PMID:16442600 "DO"] xref: ICD10CM:N81.81 xref: ICD9CM:618.05 is_a: DOID:1284 ! prolapse of female genital organ created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:12638 name: hypertrophic pyloric stenosis def: "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. (DO)" [http://en.wikipedia.org/wiki/Pyloric_stenosis "DO"] synonym: "congenital hypertrophic pyloric stenosis" EXACT [] synonym: "congenital or infantile stricture of pylorus" EXACT [] synonym: "MIM:PS179010" EXACT [] xref: EFO:0004707 xref: ICD10CM:Q40.0 xref: ICD9CM:750.5 xref: MESH:D046248 xref: NCI:C98952 is_a: DOID:12639 ! pyloric stenosis [Term] id: DOID:12639 name: pyloric stenosis def: "Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants." [] xref: EFO:0009626 xref: ICD10CM:K31.1 xref: MESH:D011707 xref: MONDO:0001561 xref: NCI:C34966 is_a: DOID:3122 ! gastric outlet obstruction [Term] id: DOID:12641 name: displacement of cardia through esophageal hiatus synonym: "congenital hiatus hernia" EXACT [] xref: ICD10CM:Q40.1 xref: ICD9CM:750.6 is_a: DOID:12642 ! hiatus hernia [Term] id: DOID:12642 name: hiatus hernia alt_id: MIM:142400 def: "STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus." [MESH:D006551] synonym: "diaphragmatic - hiatus -hernia" EXACT [] synonym: "esophageal hernia" EXACT [] synonym: "esophageal hernias" EXACT [] synonym: "hiatal hernia" EXACT [] synonym: "Hiatal Hernias" EXACT [] synonym: "Hiatus Hernias" EXACT [] synonym: "Paraesophageal Hernia" EXACT [] synonym: "Paraesophageal Hernias" EXACT [] synonym: "Paraesophageal Hiatal Hernia" EXACT [] synonym: "Paraesophageal Hiatal Hernias" EXACT [] synonym: "Sliding Esophageal Hernia" EXACT [] synonym: "Sliding Esophageal Hernias" EXACT [] synonym: "sliding hiatal hernia" EXACT [] synonym: "sliding hiatal hernias" EXACT [] xref: ICD10CM:K44 xref: MESH:D006551 xref: NCI:C98945 is_a: DOID:76 ! stomach disease is_a: DOID:9009073 ! Diaphragmatic Hernia [Term] id: DOID:12657 name: vestibulocochlear nerve disease def: "Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS." [MESH:D000160] synonym: "acoustic nerve disease" EXACT [] synonym: "Acoustic Nerve Disorder" EXACT [] synonym: "Acoustic Nerve Disorders" EXACT [] synonym: "Cochlear Nerve Disease" EXACT [] synonym: "Cochlear Nerve Diseases" EXACT [] synonym: "Cochlear Nerve Disorder" EXACT [] synonym: "Cochlear Nerve Disorders" EXACT [] synonym: "Cochlear Neuritides" EXACT [] synonym: "Cochlear Neuritis" EXACT [] synonym: "Cranial Nerve VIII Diseases" EXACT [] synonym: "Cranial Nerve VIII Disorders" EXACT [] synonym: "Eighth Cranial Nerve Diseases" EXACT [] synonym: "vestibular nerve disease" EXACT [] synonym: "vestibular nerve disorder" EXACT [] synonym: "vestibulocochlear nerve diseases" EXACT [] xref: ICD10CM:H93.3 xref: ICD9CM:388.5 xref: MESH:D000160 xref: MONDO:0001563 xref: NCI:C27207 is_a: DOID:2889 ! retrocochlear disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:12661 name: tooth ankylosis def: "Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" [MESH:D020254] synonym: "ankylosis of teeth" EXACT [] synonym: "ankylosis of tooth" EXACT [] synonym: "dental ankyloses" EXACT [] synonym: "Dental Ankylosis" EXACT [] synonym: "dentoalveolar ankyloses" EXACT [] synonym: "Dentoalveolar Ankylosis" EXACT [] synonym: "teeth ankyloses" EXACT [] synonym: "teeth ankylosis" EXACT [] synonym: "tooth ankyloses" EXACT [] xref: GARD:701 xref: ICD10CM:K03.5 xref: ICD9CM:521.6 xref: MESH:D020254 xref: MIM:157950 xref: MONDO:0008007 xref: ORDO:1077 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:227 ! ankylosis [Term] id: DOID:12662 name: paracoccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ "DO"] synonym: "mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [] synonym: "paracoccidioidal mycosis" EXACT [] synonym: "paracoccidioidomycoses" EXACT [] synonym: "South American blastomycosis" EXACT [] xref: EFO:0007417 xref: GARD:7323 xref: ICD10CM:B41 xref: ICD9CM:116.1 xref: MESH:D010229 xref: NCI:C34891 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:0080001 ! bone disease is_a: DOID:3488 ! cellulitis is_a: DOID:850 ! lung disease is_a: DOID:9942 ! lymph node disease [Term] id: DOID:12663 name: blastomycosis def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. (DO)" [http://en.wikipedia.org/wiki/Blastomycosis "DO"] synonym: "blastomyces dermatitidis Infection" EXACT [] synonym: "blastomycoses" EXACT [] synonym: "blastomycotic infection" EXACT [] synonym: "Chicago disease" EXACT [] synonym: "Gilchrist's Disease" EXACT [] synonym: "Gilchrist Disease" EXACT [] synonym: "Gilchrists Disease" EXACT [] synonym: "infection by blastomyces dermatitidis" EXACT [] synonym: "North American blastomycosis" EXACT [] xref: EFO:0007174 xref: GARD:5931 xref: ICD10CM:B40 xref: ICD9CM:116.0 xref: MESH:D001759 xref: NCI:C34428 is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:1563 ! dermatomycosis is_a: DOID:9005724 ! Fungal Lung Diseases [Term] id: DOID:12667 name: binocular vision disease synonym: "simultaneous visual perception without fusion" EXACT [] xref: EFO:0009535 xref: ICD10CM:H53.30 xref: ICD9CM:368.30 xref: NCI:C34422 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12668 name: abnormal retinal correspondence xref: ICD10CM:H53.31 xref: ICD9CM:368.34 xref: RDO:9003359 is_a: DOID:12667 ! binocular vision disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12678 name: hypercalcemia def: "Abnormally high level of calcium in the blood." [MESH:D006934] synonym: "hypercalcemia disease" EXACT [] synonym: "hypercalcemias" EXACT [] synonym: "Milk Alkali Syndrome" EXACT [] xref: HP:0003072 xref: ICD10CM:E83.52 xref: ICD9CM:275.42 xref: MESH:D006934 xref: MIM:PS143880 xref: MONDO:0001566 xref: NCI:C3112 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:12679 name: nephrocalcinosis def: "A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY." [MESH:D009397] synonym: "kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules" EXACT [] synonym: "nephrocalcinoses" EXACT [] xref: GARD:7177 xref: MESH:C531755 xref: MESH:D009397 xref: MONDO:0001567 xref: NCI:C84918 is_a: DOID:182 ! calcinosis is_a: DOID:557 ! kidney disease [Term] id: DOID:12680 name: pseudobulbar palsy def: "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. (DO)" [https://en.wikipedia.org/wiki/Corticobulbar_tract "DO", https://en.wikipedia.org/wiki/Pseudobulbar_palsy "DO"] synonym: "Pseudobulbar Dysarthria" EXACT [] synonym: "pseudobulbar dysarthrias" EXACT [] synonym: "Pseudobulbar Mutism" EXACT [] synonym: "pseudobulbar mutisms" EXACT [] synonym: "pseudobulbar palsies" EXACT [] synonym: "Pseudobulbar Paralysis" EXACT [] synonym: "Pseudobulbar Pareses" EXACT [] synonym: "pseudobulbar paresis" EXACT [] synonym: "pseudobulbar syndrome" EXACT [] synonym: "pseudobulbar syndromes" EXACT [] synonym: "spastic bulbar palsies" EXACT [] synonym: "spastic bulbar palsy" EXACT [] xref: EFO:1001131 xref: ICD9CM:335.23 xref: MESH:D020828 xref: NCI:C129934 is_a: DOID:225 ! syndrome is_a: DOID:231 ! motor neuron disease is_a: DOID:9005246 ! Paralysis is_a: DOID:936 ! brain disease [Term] id: DOID:12683 name: vestibular neuronitis def: "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. (DO)" [http://en.wikipedia.org/wiki/Vestibular_neuritis "DO", PMID:16448876 "DO"] synonym: "Acute Peripheral Vestibulopathies" EXACT [] synonym: "Acute Peripheral Vestibulopathy" EXACT [] synonym: "Acute Vestibular Neuritis" EXACT [] synonym: "Epidemic Neurolabyrinthitides" EXACT [] synonym: "Epidemic Neurolabyrinthitis" EXACT [] synonym: "Episodic Recurrent Vertigo" EXACT [] synonym: "Episodic Recurrent Vertigos" EXACT [] synonym: "Recurrent Vestibular Neuritides" EXACT [] synonym: "Recurrent Vestibular Neuritis" EXACT [] synonym: "Recurrent Vestibulopathies" EXACT [] synonym: "Recurrent Vestibulopathy" EXACT [] synonym: "Subacute Vestibular Neuritides" EXACT [] synonym: "Subacute Vestibular Neuritis" EXACT [] synonym: "Vestibular Nerve Inflammation" EXACT [] synonym: "Vestibular Nerve Inflammations" EXACT [] synonym: "Vestibular Nerve Neuritides" EXACT [] synonym: "Vestibular Nerve Neuritis" EXACT [] synonym: "Vestibular Neuritides" EXACT [] synonym: "Vestibular Neuritis" EXACT [] synonym: "Vestibular Neuropathy" EXACT [] xref: EFO:0007537 xref: ICD10CM:H81.2 xref: ICD9CM:386.12 xref: MESH:D020338 xref: MONDO:0006008 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:12685 name: mixed receptive-expressive language disorder def: "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. (DO)" [http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder "DO"] xref: ICD10CM:F80.2 xref: ICD9CM:315.32 xref: MONDO:0001568 xref: NCI:C92563 is_a: DOID:2033 ! communication disorder [Term] id: DOID:12689 name: acoustic neuroma def: "A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)" [MESH:D009464] synonym: "acoustic neurilemmoma" EXACT [] synonym: "acoustic neurilemmomas" EXACT [] synonym: "Acoustic Neurilemoma" EXACT [] synonym: "acoustic neurilemomas" EXACT [] synonym: "Acoustic Neurinoma" EXACT [] synonym: "Acoustic Neurinomas" EXACT [] synonym: "Acoustic Neuromas" EXACT [] synonym: "Acoustic Schwannoma" EXACT [] synonym: "Acoustic Schwannomas" EXACT [] synonym: "Acoustic Tumor" EXACT [] synonym: "Acoustic Tumors" EXACT [] synonym: "Cerebellopontine Angle Acoustic Neuroma" EXACT [] synonym: "melanocytic vestibular schwannoma" EXACT [] synonym: "neurinoma of the acoustic nerve" EXACT [] synonym: "unilateral acoustic neuroma" EXACT [] synonym: "vestibular neurilemmoma" EXACT [] synonym: "vestibular schwannoma" EXACT [] synonym: "vestibular schwannomas" EXACT [] xref: EFO:0000693 xref: GARD:223 xref: MESH:D009464 xref: MONDO:0001569 xref: NCI:C3276 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:3192 ! neurilemmoma is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms [Term] id: DOID:12697 name: locked-in syndrome def: "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. (DO)" [http://rarediseases.org/rare-diseases/locked-in-syndrome/ "DO"] synonym: "cerebromedullospinal disconnection" EXACT [] synonym: "de-efferented state" EXACT [] synonym: "locked-in state" EXACT [] synonym: "locked-in syndromes" EXACT [] synonym: "ventral pontine syndrome" EXACT [] xref: GARD:6919 xref: ICD10CM:G83.5 xref: ICD9CM:344.81 xref: MESH:D000080422 is_a: DOID:12835 ! quadriplegia is_a: DOID:225 ! syndrome is_a: DOID:440 ! neuromuscular disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12698 name: gynecomastia def: "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. (DO)" [https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia "DO", https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793 "DO"] synonym: "Adolescent Gynecomastia" EXACT [] synonym: "Male Breast Enlargement" EXACT [] xref: ICD10CM:N62 xref: MESH:D006177 xref: NCI:C3073 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:3463 ! breast disease [Term] id: DOID:127 name: leiomyoma def: "A cell type benign neoplasm that is a benign tumor of smooth muscle cells. (DO)" [http://en.wikipedia.org/wiki/Cancer "DO", http://en.wikipedia.org/wiki/Leiomyoma "DO"] synonym: "Fibroid" EXACT [] synonym: "fibroids" EXACT [] synonym: "Fibroid Tumor" EXACT [] synonym: "Fibroid Tumors" EXACT [] synonym: "Fibroid Uterus" EXACT [] synonym: "Fibromyoma" EXACT [] synonym: "Fibromyomas" EXACT [] synonym: "Leiomyomas" EXACT [] synonym: "leiomyomatous neoplasm" EXACT [] synonym: "leiomyomatous tumor" EXACT [] synonym: "renal leiomyoma" NARROW [] synonym: "Uterine Fibroma" EXACT [] synonym: "uterine fibromas" EXACT [] xref: EFO:1000050 xref: ICDO:8890/0 xref: MESH:D007889 xref: NCI:C3157 xref: NCI:C60426 xref: NCI:C6510 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms [Term] id: DOID:1270 name: hereditary hemorrhagic telangiectasia def: "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (DO)" [http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia "DO", http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1351/ "DO"] synonym: "hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber" EXACT [] synonym: "HHT" EXACT [] synonym: "ORW Disease" EXACT [] synonym: "Osler's disease" EXACT [] synonym: "Osler disease" EXACT [] synonym: "OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME" RELATED [] synonym: "Osler-Rendu disease" EXACT [] synonym: "Osler-Rendu-Weber disease" EXACT [] synonym: "Osler-Weber-Rendu syndrome" EXACT [] synonym: "PULMONARY ARTERIOVENOUS MALFORMATION" NARROW [] synonym: "Rendu-Osler-Weber" EXACT [] synonym: "Weber-Osler" EXACT [] xref: GARD:6626 xref: ICD10CM:I78.0 xref: ICD9CM:448.0 xref: MESH:D013683 xref: MIM:PS187300 xref: MONDO:0019180 xref: NCI:C35064 xref: ORDO:774 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1272 ! telangiectasis is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:12700 name: hyperprolactinemia alt_id: MIM:615555 def: "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperprolactinemia "DO"] synonym: "FAMILIAL HYPERPROLACTINEMIA" NARROW [] synonym: "HPRL" EXACT [] synonym: "Hyperprolactinaemia" EXACT [] synonym: "hyperprolactinemias" EXACT [] synonym: "Inappropriate Prolactin Secretion" EXACT [] synonym: "Inappropriate Prolactin Secretion Syndrome" EXACT [] synonym: "pregnancy-related A-G syndrome" EXACT [] synonym: "PRLR-RELATED CONDITION" BROAD [] synonym: "prolactin hypersecretion syndrome" EXACT [] xref: EFO:0007319 xref: ICD10CM:E22.1 xref: MESH:D006966 xref: NCI:C113168 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:2444 ! hyperpituitarism [Term] id: DOID:12704 name: ataxia telangiectasia alt_id: DOID:9000280 alt_id: DOID:9005628 def: "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia "DO"] synonym: "AT" EXACT [] synonym: "AT1" EXACT [] synonym: "ATA" NARROW [] synonym: "ataxia telangiectasia syndrome" EXACT [] synonym: "Ataxia-Telangiectasia Variant" NARROW [] synonym: "Ataxia-Telangiectasia Variant V2" NARROW [] synonym: "ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY" NARROW [] synonym: "ATC" NARROW [] synonym: "AT, COMPLEMENTATION GROUP C" NARROW [] synonym: "AT, COMPLEMENTATION GROUP D" NARROW [] synonym: "AT, COMPLEMENTATION GROUP E" NARROW [] synonym: "ATD" NARROW [] synonym: "ATE" NARROW [] synonym: "Boder-Sedgwick syndrome" EXACT [] synonym: "cerebello-oculocutaneous telangiectasia" EXACT [] synonym: "Louis-Bar syndrome" EXACT [] synonym: "LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A" NARROW [] xref: EFO:0004924 xref: GARD:5862 xref: MESH:C565380 xref: MESH:C566865 xref: MESH:D001260 xref: MIM:208900 xref: MONDO:0008840 xref: NCI:C2887 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:1272 ! telangiectasis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:12705 name: Friedreich ataxia def: "An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)" [MESH:D005621] synonym: "Friedreich's Ataxia" EXACT [] synonym: "Friedreich's Disease" EXACT [] synonym: "Friedreich's Familial Ataxia" EXACT [] synonym: "Friedreich's Hereditary Ataxia" EXACT [] synonym: "Friedreich's hereditary ataxias" EXACT [] synonym: "Friedreich's hereditary spinal ataxia" EXACT [] synonym: "Friedreich's tabes" EXACT [] synonym: "Friedreich ataxias" EXACT [] synonym: "Friedreich disease" EXACT [] synonym: "Friedreich familial ataxia" EXACT [] synonym: "Friedreich Hereditary Ataxia" EXACT [] synonym: "Friedreich Hereditary Spinal Ataxia" EXACT [] synonym: "Friedreichs Familial Ataxia" EXACT [] synonym: "Friedreichs Hereditary Ataxia" EXACT [] synonym: "Friedreich spinocerebellar ataxia" EXACT [] synonym: "hereditary spinal scleroses" EXACT [] synonym: "hereditary spinal sclerosis" EXACT [] xref: GARD:6468 xref: ICD10CM:G11.11 xref: ICD9CM:334.0 xref: MESH:D005621 xref: NCI:C84718 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:12707 name: myoclonic cerebellar dyssynergia alt_id: MIM:213400 def: "A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [MESH:D002527] synonym: "cerebellar dyssynergia" EXACT [] synonym: "cerebellar dyssynergias" EXACT [] synonym: "cerebelloparenchymal disorder V" EXACT [] synonym: "CPD5" EXACT [] synonym: "Dentate Cerebellar Ataxia" EXACT [] synonym: "Dentate Cerebellar Ataxias" EXACT [] synonym: "Dentate Cerebellar Atrophies" EXACT [] synonym: "Dentate Cerebellar Atrophy" EXACT [] synonym: "Dentate Nucleus Syndrome, Ramsay Hunt" EXACT [] synonym: "Dyssynergia Cerebellaris Myoclonica" EXACT [] synonym: "Dyssynergia Cerebellaris Myoclonica Of Hunt" EXACT [] synonym: "Dyssynergia Cerebellaris Progressiva" EXACT [] synonym: "Myoclonic Cerebellar Dyssynergias" EXACT [] synonym: "myoclonus and ataxia" EXACT [] synonym: "progressive cerebellar tremor" EXACT [] synonym: "Ramsay Hunt cerebellar syndrome" EXACT [] synonym: "Ramsay Hunt dentate syndrome" EXACT [] synonym: "spinodentate atrophy" EXACT [] xref: EFO:1001053 xref: GARD:9256 xref: MESH:D002527 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:1271 name: capillary disease def: "A vascular disease that is located_in the capillaries. (DO)" [http://en.wikipedia.org/wiki/Capillary#Pathophysiology "DO"] synonym: "disease of capillaries" EXACT [] xref: ICD10CM:I78 xref: ICD9CM:448 xref: MONDO:0001574 is_a: DOID:178 ! vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12711 name: black piedra def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. (DO)" [http://en.wikipedia.org/wiki/Black_piedra "DO"] xref: EFO:0007171 xref: ICD10CM:B36.3 xref: ICD9CM:111.3 xref: MONDO:0005669 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:12712 name: nephronophthisis def: "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ "DO"] synonym: "medullary cystic disease" EXACT [] synonym: "medullary cystic kidney" EXACT [] synonym: "Nephronophthisis 8" NARROW [] xref: GARD:206 xref: ICD10CM:Q61.5 xref: MIM:PS256100 xref: NCI:C123200 xref: ORDO:655 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2975 ! cystic kidney disease created_by: rgd creation_date: 2015-05-12T00:00:00Z [Term] id: DOID:12714 name: Ellis-Van Creveld syndrome def: "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (DO)" [https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome "DO", PMID:10700184 "DO"] synonym: "Chondroectodermal Dysplasia" EXACT [] synonym: "chondroectodermal dysplasias" EXACT [] synonym: "Ellis-Van Creveld dysplasia" EXACT [] synonym: "EVC" EXACT [] synonym: "EVC-RELATED DISORDER" BROAD [] synonym: "mesoectodermal dysplasia" EXACT [] synonym: "mesoectodermal dysplasias" EXACT [] xref: GARD:1301 xref: ICD10CM:Q77.6 xref: ICD9CM:756.55 xref: MESH:D004613 xref: MIM:225500 xref: MONDO:0009162 xref: NCI:C84684 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:12716 name: newborn respiratory distress syndrome alt_id: DOID:9002636 alt_id: MESH:C538359 alt_id: OMIA:000101 def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)" [https://www.merriam-webster.com/dictionary/respiratory%20distress%20syndrome#medicalDictionary "DO"] synonym: "HMD - hyaline membrane disease" NARROW [] synonym: "infantile respiratory distress syndrome" NARROW [] synonym: "NEONATAL RESPIRATORY DISTRESS" EXACT [] synonym: "Neonatal Respiratory Distress Syndrome" EXACT [] synonym: "pulmonary hyaline membrane disease" NARROW [] synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [] synonym: "RDS - Infants" NARROW [] synonym: "respiratory distress syndrome, infant" NARROW [] synonym: "respiratory distress syndrome of newborn" EXACT [] xref: EFO:1000644 xref: ICD10CM:P22.0 xref: MESH:D012127 is_a: DOID:11162 ! respiratory failure is_a: DOID:850 ! lung disease is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:12718 name: chronic gonococcal salpingitis def: "A chronic salpingitis that is caused by gonorrhea. (DO)" [PMID:14846362 "DO"] synonym: "gonococcal salpingitis" EXACT [] xref: ICD9CM:098.37 is_a: DOID:5731 ! chronic salpingitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1272 name: telangiectasis def: "Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders." [MESH:D013684] synonym: "spider vein" EXACT [] synonym: "spider veins" EXACT [] synonym: "Telangiectases" EXACT [] synonym: "telangiectasia" EXACT [] synonym: "telangiectasias" EXACT [] xref: MESH:D013684 xref: NCI:C28194 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:12720 name: cerebral atherosclerosis def: "An atherosclerosis of the cerebral vasculature. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK218744/ "DO"] synonym: "cerebral atheroscleroses" EXACT [] xref: EFO:1000860 xref: ICD10CM:I67.2 xref: ICD9CM:437.0 xref: MONDO:0006694 xref: NCI:C34459 is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:12721 name: multiple epiphyseal dysplasia def: "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)" [http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia "DO", http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia "DO"] synonym: "epiphyseal dysplasia" EXACT [] synonym: "MED" EXACT [] synonym: "multiple epiphyseal dysplasia, dominant" NARROW [] synonym: "polyepiphyseal dysplasia" EXACT [] xref: GARD:10756 xref: ICD9CM:756.56 xref: MIM:PS132400 xref: MONDO:0016648 xref: ORDO:251 is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1273 name: respiratory syncytial virus infectious disease def: "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. (DO)" [https://medlineplus.gov/respiratorysyncytialvirusinfections.html "DO", https://www.lung.org/lung-health-diseases/lung-disease-lookup/rsv "DO", https://www.merckmanuals.com/professional/pediatrics/respiratory-disorders-in-young-children/respiratory-syncytial-virus-rsv-and-human-metapneumovirus-infections "DO"] synonym: "respiratory syncytial virus" EXACT [] synonym: "respiratory syncytial virus infection" EXACT [] synonym: "RSV" EXACT [] synonym: "RSV infection" EXACT [] synonym: "RSV infectious disease" EXACT [] xref: EFO:1001413 xref: MESH:D018357 xref: MONDO:0001577 xref: NCI:C3354 is_a: DOID:9001953 ! Pneumovirus Infections is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:12731 name: pars planitis def: "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." [MESH:D015868] synonym: "posterior cyclitis" EXACT [] xref: EFO:1001088 xref: GARD:7339 xref: ICD10CM:H30.2 xref: ICD9CM:363.21 xref: MESH:D015868 xref: MIM:606177 xref: MONDO:0011644 xref: NCI:C34903 is_a: DOID:11406 ! choroiditis is_a: DOID:12732 ! intermediate uveitis is_a: DOID:8886 ! chorioretinitis [Term] id: DOID:12732 name: intermediate uveitis def: "Inflammation of the pars plana, ciliary body, and adjacent structures." [MESH:D015867] synonym: "chronic cyclitis" EXACT [] synonym: "peripheral uveoretinitis" EXACT [] xref: EFO:1000986 xref: MESH:D015867 xref: NCI:C35110 is_a: DOID:13141 ! uveitis [Term] id: DOID:12733 name: hypercementosis def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936] synonym: "cementation hyperplasia" EXACT [] synonym: "hypercementoses" EXACT [] xref: EFO:1000970 xref: ICD10CM:K03.4 xref: ICD9CM:521.5 xref: MESH:D006936 xref: MONDO:0006790 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:12735 name: hernia of ovary and fallopian tube def: "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/ "DO"] xref: ICD10CM:N83.4 xref: ICD10CM:N83.40 xref: ICD9CM:620.4 is_a: DOID:229 ! female reproductive system disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12750 name: cyclosporiasis def: "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. (DO)" [https://www.cdc.gov/parasites/cyclosporiasis/index.html "DO"] synonym: "cyclosporiases" EXACT [] xref: EFO:0007230 xref: GARD:9528 xref: ICD10CM:A07.4 xref: ICD9CM:007.5 xref: MESH:D021866 xref: NCI:C128409 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:12753 name: corneal staphyloma xref: ICD10CM:H18.72 xref: ICD9CM:371.73 xref: RDO:9003434 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12756 name: lacrimal duct cancer synonym: "malignant neoplasm of lacrimal duct" EXACT [] synonym: "malignant tumor of lacrimal duct" EXACT [] xref: ICD9CM:190.7 xref: NCI:C3567 is_a: DOID:292 ! lacrimal system cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:12759 name: choroid cancer synonym: "malignant tumor of choroid" EXACT [SNOMEDCT_2005_07_31:363466008] synonym: "malignant tumor of the choroid" EXACT [NCI2004_11_17:C3566] xref: EFO:1000866 xref: ICD10CM:C69.3 xref: ICD9CM:190.6 xref: NCI:C2949 xref: NCI:C3566 is_a: DOID:3479 ! uveal cancer is_a: DOID:9000994 ! Choroid Neoplasms [Term] id: DOID:1278 name: Tolosa-Hunt syndrome def: "An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (Adams et al., Principles of Neurology, 6th ed, p271)" [MESH:D020333] xref: GARD:7777 xref: MESH:D020333 xref: NCI:C85193 is_a: DOID:1279 ! ocular motility disease is_a: DOID:225 ! syndrome [Term] id: DOID:12782 name: cicatricial ectropion xref: ICD9CM:374.14 is_a: DOID:1570 ! ectropion [Term] id: DOID:12783 name: migraine without aura def: "A migraine that is characterized by migraine headaches that are not accompanied by an aura. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO"] synonym: "Common Migraine" EXACT [] synonym: "Common Migraines" EXACT [] synonym: "MGOA" EXACT [] synonym: "MGR4" RELATED [] synonym: "migraine without aura, susceptibility to, 4" RELATED [] xref: ICD10CM:G43.0 xref: ICD9CM:346.1 xref: MESH:D020326 xref: MIM:607501 xref: MONDO:0011847 xref: MONDO:0100431 xref: NCI:C117004 is_a: DOID:6364 ! migraine [Term] id: DOID:12785 name: diabetic polyneuropathy synonym: "diabetes mellitus with polyneuropathy" EXACT [] synonym: "polyneuropathy in diabetes" EXACT [] xref: EFO:1000783 xref: ICD9CM:357.2 is_a: DOID:9743 ! diabetic neuropathy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1279 name: ocular motility disease def: "Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)" [] synonym: "conjugate gaze spasm" EXACT [] synonym: "conjugate gaze spasms" EXACT [] synonym: "Convergence Excess" EXACT [] synonym: "Convergence Excesses" EXACT [] synonym: "Convergence Insufficiencies" EXACT [] synonym: "Convergence Insufficiency" EXACT [] synonym: "Cyclophoria" EXACT [] synonym: "Cyclophorias" EXACT [] synonym: "disorder of eye movements" EXACT [SNOMEDCT_2005_07_31:45030009] synonym: "Eye Motility Disorder" EXACT [] synonym: "Eye Motility Disorders" EXACT [] synonym: "Eye Movement Disorder" EXACT [] synonym: "Eye Movement Disorders" EXACT [] synonym: "Ocular Motility Disorder" EXACT [] synonym: "Ocular Motility Disorders" EXACT [] synonym: "Ocular Torticollis" EXACT [] synonym: "Opsoclonus" EXACT [] synonym: "Parinaud's Syndrome" EXACT [] synonym: "Parinauds Syndrome" EXACT [] synonym: "Parinaud Syndrome" EXACT [] synonym: "Paroxysmal Ocular Dyskinesia" EXACT [] synonym: "Paroxysmal Ocular Dyskinesias" EXACT [] synonym: "Pseudoophthalmoplegia" EXACT [] synonym: "Pseudoophthalmoplegias" EXACT [] synonym: "Skew Deviation" EXACT [] synonym: "Skew Deviations" EXACT [] synonym: "Smooth Pursuit Deficiencies" EXACT [] synonym: "smooth pursuit deficiency" EXACT [] synonym: "spasm of conjugate gaze" EXACT [] xref: EFO:1001990 xref: GARD:7061 xref: GARD:7237 xref: ICD9CM:378.9 xref: MESH:D015835 is_a: DOID:331 ! central nervous system disease is_a: DOID:5614 ! eye disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:12797 name: hallucinogen abuse def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Hallucinogen "DO"] synonym: "hallucinogen use disorder" EXACT [] xref: ICD10CM:F16.1 xref: ICD9CM:305.3 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12798 name: mucopolysaccharidosis def: "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis "DO", https://www.merriam-webster.com/medical/mucopolysaccharidosis#medicalDictionary "DO"] synonym: "IDUA pseudodeficiency" RELATED [] synonym: "mucopolysaccharidoses" EXACT [] xref: GARD:7065 xref: ICD10CM:E76.3 xref: ICD9CM:277.5 xref: MESH:D009083 xref: MIM:PS607014 xref: NCI:C61259 xref: ORDO:79213 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:3141 ! mucinoses is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:12799 name: mucopolysaccharidosis II def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. (DO)" [http://en.wikipedia.org/wiki/Hunter_syndrome "DO"] synonym: "deficiency of iduronate-2-sulphatase" EXACT [] synonym: "Hunter's syndrome" EXACT [] synonym: "Hunters syndrome" EXACT [] synonym: "Hunter syndrome" EXACT [] synonym: "Hunter Syndrome Gargoylism" EXACT [] synonym: "I2S Deficiency" EXACT [] synonym: "IDS DEFICIENCY" EXACT [] synonym: "Iduronate 2 Sulfatase Deficiency" EXACT [] synonym: "Iduronate Sulfatase Deficiency" EXACT [] synonym: "MPS2" EXACT [] synonym: "MPS II" EXACT [] synonym: "MPS II - Hunter syndrome" EXACT [] synonym: "Mucopolysaccharidosis 2" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-II" EXACT [] synonym: "Mucopolysaccharidosis Type 2" EXACT [] synonym: "mucopolysaccharidosis type II" EXACT [] synonym: "mucopolysaccharidosis type II, mild form" NARROW [] synonym: "mucopolysaccharidosis type II, severe form" NARROW [] synonym: "SIDS deficiency" EXACT [] synonym: "sulfoiduronate sulfatase deficiency" EXACT [] xref: GARD:6675 xref: ICD10CM:E76.1 xref: MESH:D016532 xref: MIM:309900 xref: MONDO:0010674 xref: NCI:C61260 xref: ORDO:580 is_a: DOID:12798 ! mucopolysaccharidosis is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:12800 name: mucopolysaccharidosis VI alt_id: MIM:253200 alt_id: OMIA:000666 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. (DO)" [http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome "DO"] synonym: "ARSB deficiencies" EXACT [] synonym: "ARSB deficiency" EXACT [] synonym: "arylsulfatase B deficiencies" EXACT [] synonym: "Arylsulfatase B Deficiency" EXACT [] synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [] synonym: "Maroteaux Lamy Syndrome" EXACT [] synonym: "MPS6" EXACT [] synonym: "MPS VI" EXACT [] synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [] synonym: "Mucopolysaccharidosis 6" EXACT [] synonym: "Mucopolysaccharidosis Type 6" EXACT [] synonym: "mucopolysaccharidosis type VI" EXACT [] synonym: "mucopolysaccharidosis type VI, intermediate" NARROW [] synonym: "mucopolysaccharidosis type VI, mild" NARROW [] synonym: "mucopolysaccharidosis type VI, severe" NARROW [] synonym: "N-acetylgalactosamine-4-sulfatase deficiencies" EXACT [] synonym: "N-acetylgalactosamine-4-sulfatase deficiency" EXACT [] synonym: "polydystrophic dwarfism" EXACT [] xref: GARD:7095 xref: MESH:D009087 xref: NCI:C61264 xref: ORDO:583 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12801 name: mucopolysaccharidosis III def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. (DO)" [http://en.wikipedia.org/wiki/Sanfilippo_syndrome "DO"] synonym: "acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency" EXACT [] synonym: "heparan sulfate sulfatase deficiency" EXACT [] synonym: "Mucopolysaccharidosis 3" EXACT [] synonym: "mucopolysaccharidosis, MPS-III" EXACT [] synonym: "N-acetyl-alpha-D-glucosaminidase deficiencies" EXACT [] synonym: "N Acetyl alpha D Glucosaminidase Deficiency" EXACT [] synonym: "NAGLU deficiencies" EXACT [] synonym: "NAGLU Deficiency" EXACT [] synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [] synonym: "Polydystrophic Oligophrenia" EXACT [] synonym: "Polydystrophic Oligophrenias" EXACT [] synonym: "San Filippo's Syndrome" EXACT [] synonym: "Sanfilippo's Syndrome" EXACT [] synonym: "Sanfilippo disease" EXACT [] synonym: "San Filippos Syndrome" EXACT [] synonym: "Sanfilippos Syndrome" EXACT [] synonym: "San Filippo Syndrome" EXACT [] synonym: "Sanfilippo syndrome" EXACT [] synonym: "sulfamidase deficiency" EXACT [] xref: MESH:D009084 xref: MONDO:0018937 xref: NCI:C61262 xref: NCI:C84897 xref: NCI:C84898 xref: OMIA:001309 xref: OMIA:001342 xref: ORDO:581 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12802 name: mucopolysaccharidosis I alt_id: OMIA:000664 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I "DO"] synonym: "alpha-L-Iduronidase Deficiencies" EXACT [] synonym: "alpha L Iduronidase Deficiency" EXACT [] synonym: "Hurler Scheie Syndrome" EXACT [] synonym: "IDUA-RELATED CONDITION" EXACT [] synonym: "iduronidase deficiency disease" EXACT [] synonym: "Lipochondrodystrophies" EXACT [] synonym: "Lipochondrodystrophy" EXACT [] synonym: "Mucopolysaccharidosis 1" EXACT [] synonym: "Mucopolysaccharidosis, MPS-I" EXACT [SNOMEDCT_2005_07_31:75610003] synonym: "mucopolysaccharidosis type 1" EXACT [] synonym: "mucopolysaccharidosis type I" EXACT [] xref: GARD:10335 xref: MESH:D008059 xref: NCI:C85053 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12803 name: mucopolysaccharidosis type VII def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII "DO", https://www.ncbi.nlm.nih.gov/books/NBK598990/ "DO"] synonym: "beta-glucuronidase deficiency" EXACT [] synonym: "deficiency of beta-glucuronidase" EXACT [] synonym: "GUSB deficiencies" EXACT [] synonym: "GUSB Deficiency" EXACT [] synonym: "GUSB-RELATED DISORDER" EXACT [] synonym: "MPS7" EXACT [] synonym: "MPS VII" EXACT [] synonym: "MPS VII - Sly syndrome" EXACT [] synonym: "mucopolysaccharidosis 7" EXACT [] synonym: "mucopolysaccharidosis VII" EXACT [] synonym: "Sly disease" EXACT [] synonym: "Sly syndrome" EXACT [] xref: ICD10CM:E76.29 xref: MESH:D016538 xref: MIM:253220 xref: MONDO:0009662 xref: NCI:C84903 xref: OMIA:000667 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12804 name: mucopolysaccharidosis IV def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. (DO)" [http://en.wikipedia.org/wiki/Morquio_syndrome "DO"] synonym: "chondroosteodystrophy" NARROW [] synonym: "deficiency of chondroitinsulphatase" EXACT [] synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" EXACT [] synonym: "Eccentroosteochondrodysplasia" EXACT [] synonym: "eccentro osteochondrodysplasia" EXACT [] synonym: "Eccentroosteochondrodysplasias" EXACT [] synonym: "eccentro-osteochondrodysplasias" EXACT [] synonym: "Galactosamine-6-Sulfatase Deficiencies" EXACT [] synonym: "Galactosamine 6 Sulfatase Deficiency" EXACT [] synonym: "Morquio's Disease" EXACT [] synonym: "Morquio's Syndrome" EXACT [] synonym: "Morquio Disease" EXACT [] synonym: "Morquios Disease" EXACT [] synonym: "Morquios Syndrome" EXACT [] synonym: "Morquio Syndrome" EXACT [] synonym: "Morquio Syndromes" EXACT [] synonym: "Mucopolysaccharidosis 4" EXACT [] synonym: "mucopolysaccharidosis, MPS-IV" EXACT [] synonym: "mucopolysaccharidosis type IV" EXACT [] synonym: "osteochondrodystrophy" NARROW [] xref: ICD10CM:E76.219 xref: MESH:D009085 xref: NCI:C61263 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12809 name: chronic lacrimal gland enlargement synonym: "chronic enlargement of lacrimal gland" EXACT [] xref: ICD10CM:H04.03 xref: ICD9CM:375.03 is_a: DOID:950 ! dacryoadenitis is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1283 name: enterocele def: "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. (DO)" [PMID:8202302 "DO"] synonym: "hernia" EXACT [] synonym: "hernias" EXACT [] synonym: "vaginal enterocele" NARROW [] xref: EFO:0020006 xref: ICD10CM:K46 xref: ICD9CM:618.6 xref: MESH:D006547 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:1285 ! rectal disease is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:12835 name: quadriplegia def: "Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts." [MESH:D011782] synonym: "Flaccid Quadriplegia" EXACT [] synonym: "flaccid quadriplegias" EXACT [] synonym: "Flaccid Tetraplegia" EXACT [] synonym: "Flaccid Tetraplegias" EXACT [] synonym: "Paralysis, Spinal, Quadriplegic" EXACT [] synonym: "Quadripareses" EXACT [] synonym: "Quadriparesis" EXACT [] synonym: "Quadriplegias" EXACT [] synonym: "Spastic Quadriplegia" EXACT [] synonym: "Spastic Quadriplegias" EXACT [] synonym: "Spastic Tetraplegia" EXACT [] synonym: "Spastic Tetraplegias" EXACT [] synonym: "Tetraplegia" EXACT [] synonym: "tetraplegias" EXACT [] xref: EFO:0009684 xref: ICD10CM:G82.5 xref: ICD9CM:344.00 xref: MESH:D011782 xref: NCI:C50721 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:12836 name: senile entropion synonym: "involutional entropion" EXACT [] xref: ICD9CM:374.01 is_a: DOID:12397 ! entropion [Term] id: DOID:12837 name: thyroid crisis def: "A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." [MESH:D013958] synonym: "Thyroid Storm" EXACT [] synonym: "Thyrotoxic Crisis" EXACT [] synonym: "Thyrotoxic Storm" EXACT [] xref: EFO:1001212 xref: MESH:D013958 xref: NCI:C112836 is_a: DOID:50 ! thyroid gland disease is_a: DOID:7997 ! thyrotoxicosis [Term] id: DOID:1284 name: prolapse of female genital organ def: "A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. (DO)" [https://www.aafp.org/afp/2010/0501/p1111.html "DO"] xref: ICD9CM:618.8 is_a: DOID:229 ! female reproductive system disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:12841 name: ancylostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. (DO)" [http://en.wikipedia.org/wiki/Ancylostomiasis "DO"] synonym: "ancylostomiases" EXACT [] xref: EFO:0007145 xref: GARD:9742 xref: ICD10CM:B76.0 xref: MESH:D000724 xref: NCI:C35805 is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease is_a: DOID:9006535 ! Hookworm Infections [Term] id: DOID:12842 name: Guillain-Barre syndrome alt_id: MIM:139393 def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. (DO)" [http://www.ninds.nih.gov/disorders/gbs/gbs.htm "DO"] synonym: "acute autoimmune neuropathies" EXACT [] synonym: "Acute Autoimmune Neuropathy" EXACT [] synonym: "Acute Infectious Polyneuritis" EXACT [] synonym: "acute infective polyneuritis" EXACT [] synonym: "acute inflammatory demyelinating polyneuropathy" NARROW [] synonym: "Acute Inflammatory Demyelinating Polyradiculoneuropathy" EXACT [] synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [] synonym: "Acute Inflammatory Polyneuropathies" EXACT [] synonym: "Acute Inflammatory Polyneuropathy" EXACT [] synonym: "Acute Inflammatory Polyradiculoneuropathies" EXACT [] synonym: "Acute Inflammatory Polyradiculoneuropathy" EXACT [] synonym: "acute postinfectious polyneuropathy" EXACT [] synonym: "AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC" NARROW [] synonym: "CIDP" NARROW [] synonym: "GBS" EXACT [] synonym: "Guillain-Barre Syndrome, Familial" EXACT [] synonym: "Guillain-Barré Syndrome" EXACT [] synonym: "Guillaine Barre Syndrome" EXACT [] synonym: "infectious neuronitis" EXACT [] synonym: "Inflammatory Polyneuropathy Acutes" EXACT [] synonym: "Landry Guillain Barre Syndrome" EXACT [] synonym: "post-infectious polyneuritis" EXACT [] synonym: "postinfectious polyneuritis" EXACT [] xref: EFO:0007292 xref: GARD:6554 xref: MESH:D020275 xref: NCI:C116345 is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:225 ! syndrome is_a: DOID:4308 ! polyradiculoneuropathy [Term] id: DOID:12849 name: autistic disorder def: "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)" [http://en.wikipedia.org/wiki/Autism "DO", http://www.neurodevnet.ca "DO"] synonym: "autism" EXACT [] synonym: "autism 1" NARROW [] synonym: "Autism-Speech Delay" RELATED [] synonym: "autism, susceptibility to, 10" RELATED [] synonym: "autism, susceptibility to, 11" RELATED [] synonym: "autism, susceptibility to, 12" RELATED [] synonym: "autism, susceptibility to, 13" RELATED [] synonym: "autism, susceptibility to, 15" RELATED [] synonym: "autism, susceptibility to, 16" RELATED [] synonym: "autism, susceptibility to, 17" RELATED [] synonym: "autism, susceptibility to,19" RELATED [] synonym: "autism, susceptibility to, 20" RELATED [] synonym: "autism, susceptibility to, 3" RELATED [] synonym: "autism, susceptibility to, 7" RELATED [] synonym: "autism, susceptibility to, 8" RELATED [] synonym: "autism, susceptibility to, 9" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 1" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 2" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 3" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 4" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 5" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 6" RELATED [] synonym: "AUTISM WITH OR WITHOUT SEIZURES" EXACT [] synonym: "autistic behavior" EXACT [] synonym: "AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "AUTISTIC DISORDER OF CHILDHOOD ONSET" EXACT [] synonym: "autistic disorders" EXACT [] synonym: "AUTS1" RELATED [] synonym: "AUTS10" RELATED [] synonym: "AUTS11" RELATED [] synonym: "AUTS12" RELATED [] synonym: "AUTS13" RELATED [] synonym: "AUTS15" RELATED [] synonym: "AUTS16" RELATED [] synonym: "AUTS17" RELATED [] synonym: "AUTS19" RELATED [] synonym: "AUTS2" RELATED [] synonym: "AUTS20" RELATED [] synonym: "AUTS2-RELATED CONDITION" BROAD [] synonym: "AUTS3" RELATED [] synonym: "AUTS4" RELATED [] synonym: "AUTS7" RELATED [] synonym: "AUTS8" RELATED [] synonym: "AUTS9" RELATED [] synonym: "AUTSX1" RELATED [] synonym: "AUTSX2" RELATED [] synonym: "AUTSX3" RELATED [] synonym: "AUTSX4" RELATED [] synonym: "AUTSX5" RELATED [] synonym: "AUTSX6" RELATED [] synonym: "CHD8-related disorder" BROAD [] synonym: "CHD8-related disorders" BROAD [] synonym: "childhood autism" EXACT [] synonym: "CHROMOSOME 15q11.2 DUPLICATION SYNDROME" NARROW [] synonym: "CHROMOSOME Xp22 DELETION SYNDROME" EXACT [] synonym: "DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4" RELATED [] synonym: "early infantile autism" EXACT [] synonym: "epsilon-trimethyllysine hydroxylase deficiency" EXACT [] synonym: "infantile autism" EXACT [] synonym: "Kanner's syndrome" EXACT [] synonym: "Kanners syndrome" EXACT [] synonym: "Kanner syndrome" EXACT [] synonym: "KATNAL2-RELATED AUTISM" NARROW [] synonym: "NLGN1-related condition" BROAD [] synonym: "NLGN3-related condition" BROAD [] synonym: "NLGN4X-related condition" BROAD [] synonym: "PTCHD1-related condition" BROAD [] synonym: "severe autism" NARROW [] synonym: "SHANK2-related condition" BROAD [] synonym: "SHANK2-RELATED DISORDER" RELATED [] synonym: "SLC9A9-related condition" BROAD [] synonym: "TMLHED" EXACT [] synonym: "TMLHE-related condition" BROAD [] synonym: "X-linked mental retardation" NARROW [] xref: EFO:0003758 xref: ICD10CM:F84.0 xref: ICD9CM:299.0 xref: MESH:D001321 xref: MIM:209850 xref: MIM:300425 xref: MIM:300495 xref: MIM:300496 xref: MIM:300830 xref: MIM:300847 xref: MIM:300872 xref: MIM:607373 xref: MIM:608049 xref: MIM:608636 xref: MIM:609378 xref: MIM:610676 xref: MIM:610836 xref: MIM:610838 xref: MIM:610908 xref: MIM:611015 xref: MIM:611016 xref: MIM:612100 xref: MIM:613410 xref: MIM:613436 xref: MIM:615091 xref: MIM:618830 xref: MIM:PS209850 xref: NCI:C126692 xref: NCI:C97161 xref: ORDO:106 is_a: DOID:0060041 ! autism spectrum disorder [Term] id: DOID:1285 name: rectal disease alt_id: RDO:0004869 def: "Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE)." [] synonym: "anorectal disease" EXACT [] synonym: "Anorectal Diseases" EXACT [] synonym: "Anorectal Disorder" EXACT [] synonym: "Anorectal Disorders" EXACT [] synonym: "Rectal Diseases" EXACT [] synonym: "Rectal Disorder" EXACT [] synonym: "rectal disorders" EXACT [] xref: EFO:0009685 xref: MESH:D012002 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:12857 name: retrocalcaneal bursitis def: "A bursitis that is characterized by an inflammation of the bursa, a fluid-filled sac that cushions the Achilles tendon where it attaches to the heel bone (calcaneus). (DO)" [https://www.mountsinai.org/health-library/diseases-conditions/bursitis-of-the-heel "DO", https://www.physio-pedia.com/Retrocalcaneal_Bursitis "DO"] synonym: "Achilles bursitis" EXACT [] synonym: "Achilles bursitis or tendinitis" EXACT [] synonym: "bursitis of the heel" EXACT [] synonym: "Capped hock" EXACT [] synonym: "Haglund's deformity" EXACT [] synonym: "Haglund's disease" EXACT [] xref: ICD10CM:M76.6 is_a: DOID:2965 ! bursitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12858 name: Huntington's disease def: "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)" [http://en.wikipedia.org/wiki/Huntington_disease "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple "DO"] synonym: "akinetic rigid variant of Huntington disease" NARROW [] synonym: "HD" EXACT [] synonym: "HTT-RELATED CONDITION" BROAD [] synonym: "Huntington's chorea" EXACT [] synonym: "Huntington chorea" EXACT [] synonym: "Huntington Chronic Progressive Hereditary Chorea" EXACT [] synonym: "Huntington disease" EXACT [] synonym: "Huntington disease, akinetic rigid variant" NARROW [] synonym: "juvenile Huntington disease" EXACT [] synonym: "juvenile onset Huntington disease" EXACT [] synonym: "late onset Huntington disease" EXACT [] xref: GARD:6677 xref: ICD9CM:333.4 xref: MESH:D006816 xref: MIM:143100 xref: MONDO:0007739 xref: NCI:C147072 xref: NCI:C82342 xref: ORDO:399 is_a: DOID:12859 ! choreatic disease is_a: DOID:1307 ! dementia is_a: DOID:1561 ! cognitive disorder is_a: DOID:679 ! basal ganglia disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:12859 name: choreatic disease alt_id: MIM:118700 alt_id: OMIA:002084 def: "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)" [http://en.wikipedia.org/wiki/Chorea "DO", http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders "DO"] synonym: "BCH" EXACT [] synonym: "Benign Hereditary Chorea" EXACT [] synonym: "benign hereditary choreas" EXACT [] synonym: "BHC" EXACT [] synonym: "Chorea" EXACT [] synonym: "Chorea Disorder" EXACT [] synonym: "chorea disorders" EXACT [] synonym: "Choreas" EXACT [] synonym: "Chorea Syndrome" EXACT [] synonym: "Chorea Syndromes" EXACT [] synonym: "Choreatic Disorder" EXACT [] synonym: "Choreatic Disorders" EXACT [] synonym: "Choreatic Syndrome" EXACT [] synonym: "Choreatic Syndromes" EXACT [] synonym: "Choreic Movement" EXACT [] synonym: "Choreic Movements" EXACT [] synonym: "Choreiform Movement" EXACT [] synonym: "Choreiform Movements" EXACT [] synonym: "Chronic Progressive Chorea" EXACT [] synonym: "Chronic Progressive Choreas" EXACT [] synonym: "Hereditary Chorea" EXACT [] synonym: "Hereditary Choreas" EXACT [] synonym: "Hereditary Progressive Chorea Without Dementia" EXACT [] synonym: "Paroxysmal Dyskinesia" EXACT [] synonym: "Paroxysmal Dyskinesias" EXACT [] synonym: "Rheumatic Chorea" EXACT [] synonym: "Rheumatic Choreas" EXACT [] synonym: "Senile Chorea" EXACT [] synonym: "Senile Choreas" EXACT [] synonym: "St. Vitus's Dance" EXACT [] synonym: "St. Vitus's Dances" EXACT [] synonym: "St. Vitus Dance" EXACT [] synonym: "St. Vituss Dance" EXACT [] synonym: "Sydenham's chorea" EXACT [] synonym: "Sydenham chorea" EXACT [] synonym: "Sydenham choreas" EXACT [] synonym: "Sydenhams chorea" EXACT [] xref: EFO:0004152 xref: MESH:D002819 xref: ORDO:1429 is_a: DOID:480 ! movement disease is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:1287 name: cardiovascular system disease def: "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. (DO)" [http://en.wikipedia.org/wiki/Circulatory_system "DO"] subset: RGD_JBrowse_slim synonym: "ABNORMALITY OF THE CARDIOVASCULAR SYSTEM" BROAD [] synonym: "cardiovascular disease" EXACT [] synonym: "cardiovascular diseases" EXACT [] synonym: "disease of subdivision of hemolymphoid system" EXACT [] xref: EFO:0000319 xref: HP:0001626 xref: ICD9CM:429.2 xref: MESH:D002318 xref: NCI:C2931 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:12883 name: hypochondriasis def: "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. (DO)" [http://en.wikipedia.org/wiki/Hypochondriasis "DO"] synonym: "hypochondria" EXACT [] synonym: "hypochondriacal disorder" EXACT [] synonym: "hypochondriacal neuroses" EXACT [] synonym: "hypochondriacal neurosis" EXACT [] xref: ICD10CM:F45.21 xref: ICD9CM:300.7 xref: MESH:D006998 xref: NCI:C9493 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:12889 name: Miller Fisher syndrome def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. (DO)" [http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification "DO"] synonym: "Fisher's syndrome" EXACT [] synonym: "Fisher Syndrome" EXACT [] synonym: "Guillain Barre Syndrome, Miller Fisher Variant" EXACT [] synonym: "Miller Fisher variant of Guillain Barre syndrome" EXACT [] synonym: "ophthalmoplegia, ataxia and areflexia syndrome" EXACT [] xref: EFO:0007371 xref: GARD:3668 xref: ICD10CM:G61.0 xref: MESH:D019846 xref: MONDO:0005851 xref: NCI:C116958 is_a: DOID:1279 ! ocular motility disease is_a: DOID:12842 ! Guillain-Barre syndrome is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:1289 name: neurodegenerative disease def: "A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (DO)" [http://en.wikipedia.org/wiki/Degenerative_disease "DO", http://en.wikipedia.org/wiki/Neurodegeneration "DO"] synonym: "central nervous system degenerative diseases" EXACT [] synonym: "degenerative disease" EXACT [] synonym: "Degenerative Neurologic Disease" EXACT [] synonym: "degenerative neurologic diseases" EXACT [] synonym: "Degenerative Neurologic Disorder" EXACT [] synonym: "degenerative neurologic disorders" EXACT [] synonym: "Nervous System Degenerative Diseases" EXACT [] synonym: "Neurodegenerative Diseases" EXACT [] synonym: "Neurodegenerative Disorder" EXACT [] synonym: "Neurodegenerative Disorders" EXACT [] synonym: "Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy" NARROW [] synonym: "neurologic degenerative condition" EXACT [] synonym: "neurologic degenerative conditions" EXACT [] synonym: "progressive neurodegenerative disease" NARROW [] synonym: "severe cystic degeneration of the brain" NARROW [] synonym: "spinal cord degenerative diseases" EXACT [] synonym: "subacute myelo-opticoneuropathy" NARROW [] synonym: "TMEM63B-ASSOCIATED DISORDER" BROAD [] xref: EFO:0005772 xref: EFO:0020919 xref: ICD10CM:G31.9 xref: MESH:D019636 xref: NCI:C27090 is_a: DOID:331 ! central nervous system disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:12894 name: Sjogren's syndrome alt_id: MIM:270150 def: "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. (DO)" [http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome "DO"] synonym: "Sicca Syndrome" EXACT [] synonym: "Sjogrens Syndrome" EXACT [] synonym: "Sjogren Syndrome" EXACT [] synonym: "xerodermosteosis" EXACT [] xref: EFO:0000699 xref: GARD:10252 xref: ICD10CM:M35.0 xref: ICD9CM:710.2 xref: MESH:D012859 xref: NCI:C26883 xref: NCI:C70647 is_a: DOID:0060029 ! autoimmune disease of exocrine system is_a: DOID:10140 ! dry eye syndrome is_a: DOID:7148 ! rheumatoid arthritis is_a: DOID:9006511 ! Xerostomia [Term] id: DOID:12895 name: keratoconjunctivitis sicca def: "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." [MESH:D007638] synonym: "KCS" EXACT [] xref: EFO:1000906 xref: GARD:8444 xref: MESH:D007638 is_a: DOID:10140 ! dry eye syndrome is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:12897 name: submandibular gland disease def: "Diseases involving the SUBMANDIBULAR GLAND." [MESH:D013364] synonym: "submandibular gland diseases" EXACT [] xref: MESH:D013364 xref: RDO:0006641 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12899 name: benign lymphoepithelial lesion of salivary gland synonym: "Godwin tumor" EXACT [] xref: MONDO:0001598 xref: NCI:C3949 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9003216 ! Salivary Gland Neoplasms created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12900 name: Mikulicz disease def: "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. (DO)" [https://rarediseases.org/rare-diseases/mikulicz-syndrome/ "DO"] synonym: "IgG4-related dacryoadenitis and sialadenitis" EXACT [] synonym: "Mikulicz's disease" EXACT [] xref: EFO:0000699 xref: GARD:7043 xref: ICD10CM:K11.8 xref: MESH:D008882 xref: NCI:C34819 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:10854 ! salivary gland disease is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:12901 name: necrotizing sialometaplasia def: "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." [MESH:D012797] synonym: "Necrotizing Sialometaplasias" EXACT [] xref: EFO:1001057 xref: MESH:D012797 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12904 name: mucocele of salivary gland def: "A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele." [MESH:D011900] synonym: "mucous retention cyst of salivary gland" EXACT [] synonym: "ranula" EXACT [] synonym: "ranulas" EXACT [] synonym: "salivary cyst" EXACT [] synonym: "salivary gland mucocele" EXACT [] xref: ICD10CM:K11.6 xref: ICD9CM:527.6 xref: MESH:D011900 xref: MONDO:0001600 xref: NCI:C127828 xref: NCI:C27649 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9004508 ! Mucocele [Term] id: DOID:12905 name: sialolithiasis def: "Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." [MESH:D015494] synonym: "Salivary Gland Calculi" EXACT [] synonym: "Salivary Gland Calculus" EXACT [] synonym: "Salivary Gland Stone" EXACT [] synonym: "Salivary Gland Stones" EXACT [] synonym: "Sialolith" EXACT [] synonym: "Sialoliths" EXACT [] synonym: "stone of salivary gland or duct" EXACT [] xref: EFO:1001180 xref: ICD10CM:K11.5 xref: ICD9CM:527.5 xref: MESH:D015494 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9001730 ! Salivary Calculi [Term] id: DOID:12918 name: thromboangiitis obliterans alt_id: MIM:211480 def: "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." [MESH:D013919] synonym: "Buerger's disease" EXACT [] synonym: "Buerger disease" EXACT [] synonym: "Buergers disease" EXACT [] synonym: "presenile gangrene" EXACT [] synonym: "thromboangitis obliterans" EXACT [] xref: EFO:1001211 xref: ICD10CM:I73.1 xref: ICD9CM:443.1 xref: MESH:D013919 xref: NCI:C35070 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:865 ! vasculitis is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:12919 name: Plasmodium ovale malaria def: "A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. (DO)" [https://www.merriam-webster.com/medical/ovale%20malaria "DO"] synonym: "Malariaby Plasmodium ovale" EXACT [MTHICD9_2006:084.3] synonym: "Ovale malaria" EXACT [SNOMEDCT_2005_07_31:19341001] xref: ICD10CM:B53.0 xref: ICD9CM:084.3 is_a: DOID:12365 ! malaria created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12926 name: hypodermyiasis def: "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. (DO)" [http://en.wikipedia.org/wiki/Dermatobia_hominis "DO", http://en.wikipedia.org/wiki/Hypodermyiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] synonym: "hypodermyiases" EXACT [] xref: EFO:0007320 xref: GARD:2883 xref: MESH:D007000 is_a: DOID:11080 ! myiasis [Term] id: DOID:12927 name: screw worm infectious disease def: "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. (DO)" [http://en.wikipedia.org/wiki/Chrysomya_bezziana "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] synonym: "screw worm infection" EXACT [] synonym: "screw worm infections" EXACT [] xref: EFO:0007479 xref: MESH:D012610 is_a: DOID:11080 ! myiasis [Term] id: DOID:12929 name: endocardial fibroelastosis alt_id: MIM:226000 def: "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. (DO)" [http://en.wikipedia.org/wiki/Endocardial_fibroelastosis "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract "DO"] synonym: "elastomyofibrosis" EXACT [] synonym: "endocardial fibroelastoses" EXACT [] synonym: "endomyocardial fibroelastosis" EXACT [] xref: EFO:0007251 xref: GARD:2121 xref: GARD:6336 xref: ICD10CM:I42.4 xref: ICD9CM:425.3 xref: MESH:D004695 xref: NCI:C98922 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050825 ! endocardium disease [Term] id: DOID:1293 name: labia minora carcinoma def: "A vulva carcinoma that is located_in the labia minora. (DO)" [PMID:13733610 "DO"] synonym: "carcinoma of labia minora" EXACT [] xref: NCI:C9364 is_a: DOID:1243 ! labia minora cancer is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:12930 name: dilated cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)" [http://en.wikipedia.org/wiki/Dilated_cardiomyopathy "DO"] synonym: "ANKRD1-related condition" BROAD [] synonym: "ANKRD1-related dilated cardiomyopathy" NARROW [] synonym: "autosomal dominant dilated cardiomyopathy" NARROW [] synonym: "congestive cardiomyopathies" EXACT [] synonym: "congestive cardiomyopathy" EXACT [] synonym: "dilated cardiomyopathies" EXACT [] synonym: "dilated cardiomyopathy, and heart failure" NARROW [] synonym: "dilated cardiomyopathy, autosomal recessive" NARROW [] synonym: "dilated cardiomyopathy, dominant" NARROW [] synonym: "dilated cardiomyopathy, recessive" NARROW [] synonym: "familial dilated cardiomyopathy" NARROW [] synonym: "familial idiopathic cardiomyopathies" NARROW [] synonym: "familial idiopathic cardiomyopathy" NARROW [] synonym: "fatal cardiomyopathy" NARROW [] synonym: "fatal cardiomyopathy, infantile" NARROW [] synonym: "FDC" NARROW [] synonym: "IDCM" NARROW [] synonym: "idiopathic dilated cardiomyopathies" NARROW [] synonym: "idiopathic dilated cardiomyopathy" NARROW [] synonym: "idiopathic dilation cardiomyopathy" NARROW [] synonym: "LEFT VENTRICULAR DILATATION" EXACT [] synonym: "left ventricular noncompaction 4" NARROW [] synonym: "LVNC4" NARROW [] synonym: "NEONATAL CARDIOMYOPATHY" NARROW [] synonym: "primary dilated cardiomyopathy" NARROW [] xref: EFO:0000372 xref: EFO:0000407 xref: EFO:0009094 xref: EFO:0009142 xref: EFO:0010953 xref: GARD:221 xref: MESH:D002311 xref: MIM:PS115200 xref: NCI:C84673 xref: ORDO:217604 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:9003936 ! Cardiomegaly [Term] id: DOID:12932 name: endomyocardial fibrosis def: "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." [MESH:D004719] synonym: "African endomyocardial fibrosis" EXACT [] synonym: "Becker's disease" EXACT [] synonym: "Endomyocardial Fibroses" EXACT [] synonym: "endomyocardial sclerosis" EXACT [] synonym: "obscure African cardiomyopathy" EXACT [] xref: EFO:1000921 xref: GARD:6340 xref: ICD9CM:425.0 xref: MESH:D004719 xref: NCI:C34585 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:12934 name: Kearns-Sayre syndrome def: "A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)" [MESH:D007625] synonym: "chronic progressive external ophthalmoplegia with myopathy" EXACT [] synonym: "CPEO with myopathies" EXACT [] synonym: "CPEO with Myopathy" EXACT [] synonym: "CPEO With Ragged-Red Fibers" EXACT [] synonym: "Kearn Sayre Mitochondrial Cytopathy" EXACT [] synonym: "Kearns-Sayre Mitochondrial Cytopathy" EXACT [] synonym: "Kearns Sayre Shy Daroff Syndrome" EXACT [] synonym: "Kearns Syndrome" EXACT [] synonym: "Kearn Syndrome" EXACT [] synonym: "KSS" EXACT [] synonym: "Oculocraniosomatic Syndrome" EXACT [] synonym: "oculocraniosomatic syndromes" EXACT [] synonym: "Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy" EXACT [] synonym: "ophthalmoplegia plus syndrome" EXACT [] synonym: "ophthalmoplegia plus syndromes" EXACT [] synonym: "progressive external ophthalmoplegia with ragged-red fibers" EXACT [] xref: GARD:6817 xref: ICD10CM:H49.81 xref: MESH:D007625 xref: MIM:530000 xref: MONDO:0010787 xref: NCI:C84798 xref: ORDO:480 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:12558 ! chronic progressive external ophthalmoplegia is_a: DOID:225 ! syndrome is_a: DOID:9003594 ! Mitochondrial Cytopathy [Term] id: DOID:12935 name: alcoholic cardiomyopathy def: "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." [MESH:D002310] synonym: "alcohol-induced heart muscle disease" EXACT [] synonym: "dilated cardiomyopathy secondary to alcohol" EXACT [] xref: EFO:1000801 xref: ICD10CM:I42.6 xref: ICD9CM:425.5 xref: MESH:D002310 xref: MONDO:0006643 xref: NCI:C53653 is_a: DOID:3978 ! extrinsic cardiomyopathy is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:1294 name: vulva carcinoma def: "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://www.cancer.gov/cancertopics/types/vulvar "DO"] synonym: "carcinoma of vulva" EXACT [] synonym: "vulvar carcinoma" EXACT [] xref: EFO:0002921 xref: NCI:C4866 is_a: DOID:1245 ! vulva cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:12958 name: paralytic lagophthalmos xref: ICD10CM:H02.23 xref: ICD9CM:374.21 is_a: DOID:12959 ! lagophthalmos created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12959 name: lagophthalmos xref: ICD10CM:H02.2 xref: ICD9CM:374.2 xref: MESH:D000092164 is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12960 name: acrocephalosyndactylia def: "A synostosis that results_in craniosynostosis and syndactyly. (DO)" [http://en.wikipedia.org/wiki/Acrocephalosyndactylia "DO"] synonym: "Acrocephalosyndactyly (Apert)" EXACT [] synonym: "Acrocephalosyndactyly, Type 1" EXACT [] synonym: "ACROCEPHALOSYNDACTYLY, TYPE II" NARROW [] synonym: "Acrocephaly, Skull Asymmetry, and Mild Syndactyly" EXACT [] synonym: "ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES" NARROW [] synonym: "ACS1" EXACT [] synonym: "ACS I APERT-CROUZON DISEASE" NARROW [] synonym: "ACS II" NARROW [] synonym: "Apert Crouzon Disease" EXACT [] synonym: "Apert Syndrome" EXACT [] synonym: "Craniofacial-Skeletal-Dermatologic Dysplasia" EXACT [] synonym: "Dysostosis Craniofacialis with Hypertelorism" EXACT [] synonym: "Kurczynski Casperson Syndrome" EXACT [] synonym: "Syndactylic Oxycephalies" EXACT [] synonym: "Syndactylic Oxycephaly" EXACT [] synonym: "Type I Acrocephalosyndactylies" EXACT [] synonym: "Type I Acrocephalosyndactyly" EXACT [] synonym: "Type II Acrocephalosyndactylies" EXACT [] xref: EFO:0004123 xref: ICD9CM:755.55 xref: MESH:D000168 xref: MIM:101200 xref: MONDO:0019796 xref: NCI:C34348 xref: NCI:C99099 is_a: DOID:11193 ! syndactyly is_a: DOID:11971 ! synostosis is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:12961 name: Poland syndrome alt_id: MIM:173800 def: "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. (DO)" [https://www.genome.gov/Genetic-Disorders/Poland-Anomaly "DO", PMID:25831684 "DO"] synonym: "Poland's syndactyly" EXACT [] synonym: "Poland anomaly" EXACT [] synonym: "Poland sequence" EXACT [] synonym: "Poland syndactyly" EXACT [] xref: GARD:7412 xref: ICD10CM:Q79.8 xref: MESH:D011045 xref: NCI:C85017 is_a: DOID:0080015 ! physical disorder is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:12965 name: subleukemic leukemia def: "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. (DO)" [http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia "DO"] is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12969 name: central nervous system leukemia def: "A leukemia located_in the central nervous system. (DO)" [http://www.springerlink.com/content/gl61tx644217n938/ "DO"] synonym: "leukemia of the CNS" EXACT [] xref: MONDO:0001606 xref: NCI:C5440 is_a: DOID:1240 ! leukemia is_a: DOID:5772 ! central nervous system hematologic cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12971 name: hereditary spherocytosis alt_id: MESH:C536356 def: "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (DO)" [http://en.wikipedia.org/wiki/Hereditary_spherocytosis "DO", https://research.nhgri.nih.gov/RBCmembrane/ "DO"] synonym: "acholuric jaundice" EXACT [] synonym: "chronic acholuric jaundice" EXACT [] synonym: "congenital hemolytic jaundice" EXACT [] synonym: "congenital spherocytic hemolytic anemia" EXACT [] synonym: "congenital spherocytosis" EXACT [] synonym: "Debrie's familial haemolytic disease" EXACT [] synonym: "dominant spherocytosis" NARROW [] synonym: "hereditary spherocytic hemolytic anemia" EXACT [] synonym: "hereditary spherocytoses" EXACT [] synonym: "HS" EXACT [] synonym: "Minkowski-Chauffard disease" EXACT [] synonym: "Minkowski-Chauffard-Gänsslen syndrome" EXACT [] synonym: "Minkowski-Chauffard haemolytic jaundice" EXACT [] synonym: "Minkowski Chauffard syndrome" EXACT [] synonym: "recessive spherocytosis" NARROW [] synonym: "spherocytic anemia" EXACT [] synonym: "SPHEROCYTOSIS" BROAD [] xref: EFO:0011064 xref: GARD:6639 xref: ICD10CM:D58.0 xref: ICD9CM:282.0 xref: MESH:D013103 xref: NCI:C97074 xref: ORDO:822 is_a: DOID:13603 ! obstructive jaundice is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:12972 name: intrapelvic lymph node leukemic reticuloendotheliosis synonym: "leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT [] synonym: "leukemic reticuloendotheliosis of intrapelvic lymph nodes" EXACT [] xref: ICD9CM:202.46 is_a: DOID:10619 ! lymph node cancer is_a: DOID:285 ! hairy cell leukemia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12978 name: Plasmodium vivax malaria alt_id: MIM:110700 def: "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. (DO)" [https://www.merriam-webster.com/dictionary/vivax%20malaria#medicalDictionary "DO"] synonym: "ACKR1-RELATED CONDITION" RELATED [] synonym: "malaria by Plasmodium vivax" EXACT [] synonym: "resistance to Plasmodium vivax infection" RELATED [] synonym: "vivax malaria" EXACT [] xref: EFO:0007445 xref: ICD10CM:B51 xref: ICD9CM:084.1 xref: MESH:D016780 xref: NCI:C34800 is_a: DOID:12365 ! malaria [Term] id: DOID:12984 name: vagus nerve neoplasm synonym: "neoplasm of vagus nerve" EXACT [] synonym: "vagus nerve tumors" EXACT [] xref: NCI:C5831 is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:12986 name: leukostasis def: "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." [MESH:D018921] synonym: "Leukostases" EXACT [] synonym: "Leukostasis Syndrome" EXACT [] synonym: "Leukostasis Syndromes" EXACT [] xref: EFO:1001016 xref: MESH:D018921 xref: MONDO:0006831 xref: NCI:C4062 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:12987 name: agranulocytosis def: "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)" [https://en.wikipedia.org/wiki/Agranulocytosis "DO"] synonym: "agranulocytoses" EXACT [] synonym: "granulocytopenia" EXACT [] synonym: "granulocytopenic disorder" EXACT [] synonym: "granulopenia" EXACT [] xref: MESH:D000380 xref: MONDO:0001609 xref: NCI:C2863 is_a: DOID:615 ! leukopenia [Term] id: DOID:12995 name: conduct disorder def: "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. (DO)" [http://en.wikipedia.org/wiki/Conduct_disorder "DO", http://www.nmha.org/go/conduct-disorder "DO"] synonym: "behavior disorder" EXACT [] synonym: "conduct disorders" EXACT [] xref: EFO:0004216 xref: ICD10CM:F91 xref: ICD9CM:312.9 xref: MESH:D019955 xref: NCI:C89329 is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders [Term] id: DOID:12996 name: acute dacryocystitis xref: ICD10CM:H04.32 xref: ICD9CM:375.32 xref: MONDO:0001610 is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12997 name: phlegmonous dacryocystitis xref: ICD10CM:H04.31 xref: ICD9CM:375.33 xref: MONDO:0001611 is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13001 name: carotid stenosis alt_id: RDO:0007010 def: "Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)" [MESH:D016893] synonym: "Carotid Artery Narrowing" EXACT [] synonym: "Carotid Artery Narrowings" EXACT [] synonym: "Carotid Artery Plaque" EXACT [] synonym: "Carotid Artery Plaques" EXACT [] synonym: "Carotid Artery Stenoses" EXACT [] synonym: "Carotid Artery Stenosis" EXACT [] synonym: "Carotid Artery Ulcerating Plaque" EXACT [] synonym: "Carotid Occlusive Disease" EXACT [] synonym: "Carotid Stenoses" EXACT [] synonym: "Carotid Stenosis, Susceptibility To" RELATED [] synonym: "Carotid Ulcer" EXACT [] synonym: "Carotid Ulcers" EXACT [] synonym: "Common Carotid Artery Stenosis" EXACT [] synonym: "External Carotid Artery Stenosis" NARROW [] synonym: "Internal Carotid Artery Stenosis" NARROW [] xref: EFO:0002615 xref: MESH:D016893 xref: NCI:C95804 is_a: DOID:3407 ! carotid artery disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:13002 name: subclavian steal syndrome alt_id: RDO:0006634 def: "A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" [MESH:D013349] synonym: "basilar steal syndrome" EXACT [] synonym: "Basilar Steal Syndromes" EXACT [] synonym: "Brachial Basilar Insufficiency Syndrome" EXACT [] synonym: "Brachial-Basilar Insufficiency Syndromes" EXACT [] synonym: "Subclavian Artery Stenoses" EXACT [] synonym: "Subclavian Artery Stenosis" EXACT [] synonym: "Subclavian Carotid Artery Steal Syndrome" EXACT [] synonym: "Subclavian Steal" EXACT [] synonym: "Subclavian Steal Phenomenon" EXACT [] synonym: "subclavian steal steno-occlusive disease" EXACT [] synonym: "subclavian steal syndromes" EXACT [] xref: EFO:1001195 xref: ICD9CM:435.2 xref: MESH:D013349 xref: NCI:C35044 is_a: DOID:13003 ! vertebrobasilar insufficiency is_a: DOID:225 ! syndrome [Term] id: DOID:13003 name: vertebrobasilar insufficiency def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." [] synonym: "vertebrobasilar arterial insufficiency" EXACT [] synonym: "Vertebrobasilar artery syndrome" EXACT [] synonym: "Vertebrobasilar Dolichoectasia" EXACT [] synonym: "vertebrobasilar dolichoectasias" EXACT [] synonym: "Vertebro-Basilar Insufficiencies" EXACT [] synonym: "Vertebrobasilar Insufficiencies" EXACT [] synonym: "Vertebro Basilar Insufficiency" EXACT [] synonym: "Vertebro Basilar Ischemia" EXACT [] synonym: "Vertebrobasilar Ischemia" EXACT [] synonym: "Vertebro-Basilar Ischemias" EXACT [] synonym: "vertebrobasilar ischemias" EXACT [] xref: EFO:1001449 xref: ICD10CM:G45.0 xref: ICD9CM:435.3 xref: MESH:D014715 is_a: DOID:13095 ! vertebral artery insufficiency is_a: DOID:223 ! basilar artery insufficiency [Term] id: DOID:13005 name: intra-abdominal lymph node mast cell malignancy synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [] synonym: "mast cell malignancy of intra-abdominal lymph nodes" EXACT [] xref: ICD9CM:202.63 is_a: DOID:10619 ! lymph node cancer is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:13014 name: shipyard eye synonym: "EKC" EXACT [] synonym: "Epidemic keratoconjunctivitis" EXACT [] xref: ICD10CM:B30.0 xref: ICD9CM:077.1 xref: NCI:C34590 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13025 name: retinopathy of prematurity def: "A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" [MESH:D012178] synonym: "premature retinopathy" EXACT [CSP2005:1114-9578] synonym: "Prematurity Retinopathies" EXACT [] synonym: "Prematurity Retinopathy" EXACT [] synonym: "Retrolental Fibroplasia" EXACT [] synonym: "Retrolental Fibroplasias" EXACT [] xref: EFO:1001158 xref: GARD:5695 xref: ICD10CM:H35.1 xref: ICD9CM:362.21 xref: MESH:D012178 xref: NCI:C34982 xref: RDO:0006483 is_a: DOID:5679 ! retinal disease is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:13026 name: lobomycosis def: "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. (DO)" [http://www.cdc.gov/EID/content/15/8/1301.htm "DO", http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html "DO"] synonym: "Cutaneous blastomycosis" RELATED [] synonym: "cutaneous lobomycosis" EXACT [] synonym: "infection by Loboa loboi" EXACT [] synonym: "Jorge Lobo's Disease" EXACT [] synonym: "Jorge Lobo Disease" EXACT [] synonym: "Jorge Lobos Disease" EXACT [] synonym: "Keloidal Blastomycoses" EXACT [] synonym: "Keloidal Blastomycosis" EXACT [] synonym: "Lacazioses" EXACT [] synonym: "Lacaziosis" EXACT [] synonym: "Lobomycoses" EXACT [] xref: EFO:1001805 xref: ICD10CM:B48.0 xref: ICD9CM:116.2 xref: MESH:D060368 is_a: DOID:0050135 ! subcutaneous mycosis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:13027 name: transient global amnesia def: "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. (DO)" [http://en.wikipedia.org/wiki/Transient_global_amnesia "DO"] synonym: "TGA (transient global amnesia)" EXACT [] xref: GARD:8172 xref: ICD10CM:G45.4 xref: ICD9CM:437.7 xref: MESH:D020236 xref: NCI:C85198 is_a: DOID:10914 ! amnestic disorder is_a: DOID:225 ! syndrome is_a: DOID:936 ! brain disease [Term] id: DOID:13031 name: balanoposthitis xref: ICD10CM:N47.6 xref: ICD9CM:607.1 xref: MONDO:0001618 is_a: DOID:1529 ! penile disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13033 name: balanitis def: "Inflammation of the head of the PENIS, glans penis." [MESH:D001446] synonym: "Balanitides" EXACT [] xref: EFO:1000833 xref: ICD10CM:N48.1 xref: MESH:D001446 xref: NCI:C26705 xref: RDO:0004971 is_a: DOID:1529 ! penile disease [Term] id: DOID:13034 name: relapsing fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. (DO)" [http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html "DO"] synonym: "Relapsing Fevers" EXACT [] xref: ICD10CM:A68 xref: ICD9CM:087 xref: MESH:D012061 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004477 ! Borrelia Infections [Term] id: DOID:13035 name: louse-borne relapsing fever def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)" [PMID:30869050 "DO"] xref: ICD10CM:A68.0 xref: ICD9CM:087.0 xref: NCI:C128426 is_a: DOID:13034 ! relapsing fever [Term] id: DOID:13036 name: tick-borne relapsing fever def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Relapsing_fever "DO"] synonym: "soft tick relapsing fever" EXACT [] xref: ICD10CM:A68.1 xref: ICD9CM:087.1 xref: NCI:C34976 is_a: DOID:13034 ! relapsing fever [Term] id: DOID:13037 name: mechanical lagophthalmos xref: ICD10CM:H02.22 xref: ICD9CM:374.22 xref: MONDO:0001622 is_a: DOID:12959 ! lagophthalmos created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13038 name: cicatricial lagophthalmos xref: ICD10CM:H02.21 xref: ICD9CM:374.23 is_a: DOID:12959 ! lagophthalmos created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13042 name: persistent fetal circulation syndrome alt_id: MIM:265380 def: "A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." [MESH:D010547] synonym: "ACD MPV" EXACT [] synonym: "ACDMPV" EXACT [] synonym: "alveolar capillary dysplasia" EXACT [] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] synonym: "Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies" EXACT [] synonym: "Congenital alveolar capillary dysplasia" EXACT [] synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] synonym: "Familial Persistent Pulmonary Hypertension of the Newborn" EXACT [] synonym: "fetal circulation" EXACT [] synonym: "FOXF1-RELATED DISORDER" EXACT [] synonym: "Misalignment of the Pulmonary Vessels" EXACT [] synonym: "Persistent Fetal Circulation" EXACT [] synonym: "persistent foetal circulation" EXACT [] synonym: "persistent foetal circulation syndrome" EXACT [] synonym: "persistent pulmonary hypertension of newborn" EXACT [] synonym: "persistent pulmonary hypertension of the newborn" EXACT [] xref: EFO:1001103 xref: ICD10CM:P29.3 xref: ICD10CM:P29.30 xref: ICD9CM:747.83 xref: MESH:C536590 xref: MESH:D010547 xref: NCI:C85006 xref: NCI:C98809 is_a: DOID:225 ! syndrome is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:13046 name: acute sphenoidal sinusitis def: "A sphenoid sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "sphenoidal sinus -acute" EXACT [] xref: ICD10CM:J01.3 xref: ICD9CM:461.3 xref: MONDO:0001624 is_a: DOID:10794 ! sphenoid sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13050 name: corpus luteum cyst def: "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. (DO)" [https://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971 "DO"] synonym: "corpus luteum cysts" EXACT [] xref: ICD9CM:620.1 is_a: DOID:5119 ! ovarian cyst created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13060 name: traumatic glaucoma def: "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/ "DO"] synonym: "glaucoma associated with ocular trauma" EXACT [] xref: ICD9CM:365.65 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13068 name: renal osteodystrophy def: "Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." [MESH:D012080] synonym: "Chronic kidney disease-mineral and bone disorder" EXACT [] synonym: "CKD-MBD" EXACT [] synonym: "renal osteodystrophies" EXACT [] synonym: "renal rickets" EXACT [] xref: EFO:1001152 xref: ICD10CM:N25.0 xref: ICD9CM:588.0 xref: MESH:D012080 xref: NCI:C114827 is_a: DOID:10609 ! rickets is_a: DOID:12466 ! secondary hyperparathyroidism is_a: DOID:557 ! kidney disease [Term] id: DOID:1307 name: dementia def: "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm "DO"] synonym: "Amentia" EXACT [] synonym: "amentias" EXACT [] synonym: "dementias" EXACT [] synonym: "familial dementia" EXACT [] synonym: "familial dementias" EXACT [] synonym: "senile paranoid dementia" EXACT [] synonym: "senile paranoid dementias" EXACT [] xref: HP:0000726 xref: ICD9CM:290.8 xref: MESH:D003704 xref: MONDO:0001627 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:13072 name: acquired hyperkeratosis def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." [] synonym: "acquired keratoderma" EXACT [] synonym: "acquired keratosis" EXACT [] xref: EFO:1000663 xref: ICD9CM:701.1 xref: MONDO:0006522 xref: NCI:C34746 is_a: DOID:161 ! keratosis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13074 name: tinea unguium def: "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. (DO)" [http://en.wikipedia.org/wiki/Nail_disease "DO", http://en.wikipedia.org/wiki/Onychomycosis "DO"] synonym: "cellulitis and abscess" RELATED [] synonym: "cellulitis and abscess of buttock" EXACT [] synonym: "cellulitis and abscess of face" EXACT [] synonym: "cellulitis and abscess of finger" EXACT [] synonym: "cellulitis and abscess of finger and toe" EXACT [] synonym: "cellulitis and abscess of gluteal region" EXACT [] synonym: "cellulitis and abscess of trunk" EXACT [] synonym: "cellulitis and abscess of upper arm and forearm" EXACT [] synonym: "dermatophytic onychia" EXACT [] synonym: "dermatophytic onychomycosis" EXACT [] synonym: "dermatophytosis of nail" EXACT [] synonym: "nail fungus" EXACT [] synonym: "Onychomycoses" EXACT [] synonym: "onychomycosis" EXACT [] synonym: "onychomycosis due to dermatophyte" EXACT [] xref: ICD9CM:681.9 xref: MESH:D014009 is_a: DOID:4123 ! nail disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:13078 name: eumycotic mycetoma def: "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. (DO)" [http://en.wikipedia.org/wiki/Maduromycosis "DO", http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html "DO"] synonym: "actinomycetoma" EXACT [] synonym: "actinomycetomas" EXACT [] synonym: "Eumycetoma" EXACT [] synonym: "Eumycetomas" EXACT [] synonym: "Madura Foot" EXACT [] synonym: "Maduromycoses" EXACT [] synonym: "Maduromycosis" EXACT [] synonym: "mycetoma" EXACT [] synonym: "mycetomas" EXACT [] synonym: "mycotic maduromycosis" EXACT [] synonym: "mycotic mycetoma" EXACT [] xref: EFO:0007265 xref: ICD10CM:B47 xref: MESH:D008271 xref: NCI:C85505 is_a: DOID:0050135 ! subcutaneous mycosis is_a: DOID:1563 ! dermatomycosis is_a: DOID:2312 ! nocardiosis is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:13080 name: Jaccoud's syndrome def: "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. (DO)" [https://ard.bmj.com/content/57/9/540 "DO", https://radiopaedia.org/articles/jaccoud-arthropathy "DO"] synonym: "Jaccoud syndrome" EXACT [] xref: ICD10CM:M12.0 xref: ICD9CM:714.4 is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13081 name: hemangioma of subcutaneous tissue synonym: "angioma of the subcutaneous tissue" EXACT [] synonym: "subcutaneous haemangioma" EXACT [] synonym: "subcutaneous hemangioma" EXACT [] xref: EFO:1000707 xref: MONDO:0006557 xref: NCI:C8540 is_a: DOID:471 ! skin hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13087 name: Lown-Ganong-Levine syndrome alt_id: MIM:108950 def: "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. (DO)" [http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome "DO"] synonym: "short PR, normal QRS complex syndrome" EXACT [] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [] xref: ICD10CM:I45.6 xref: ICD9CM:426.81 xref: MESH:D008151 xref: ORDO:844 is_a: DOID:9002491 ! Pre-Excitation Syndromes is_a: DOID:9006770 ! Atrial Tachyarrhythmia with Short PR Interval [Term] id: DOID:13088 name: periventricular leukomalacia def: "Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" [MESH:D007969] synonym: "Cystic Periventricular Leukomalacia" EXACT [] synonym: "cystic periventricular leukomalacias" EXACT [] synonym: "Neonatal Cerebral Leukomalacia" EXACT [] synonym: "Periventricular Encephalomalacia" EXACT [] synonym: "Periventricular Encephalomalacias" EXACT [] synonym: "Periventricular Leucomalacia" EXACT [] synonym: "Periventricular Leucomalacias" EXACT [] synonym: "periventricular leukomalacias" EXACT [] xref: EFO:1001101 xref: GARD:10285 xref: ICD10CM:P91.2 xref: ICD9CM:779.7 xref: MESH:D007969 xref: MONDO:0015742 xref: NCI:C99013 is_a: DOID:2034 ! encephalomalacia is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:13089 name: intracranial arterial disease def: "Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [MESH:D020765] synonym: "Arterial Brain Disease" EXACT [] synonym: "arterial brain diseases" EXACT [] synonym: "Arterial Brain Disorder" EXACT [] synonym: "Arterial Brain Disorders" EXACT [] synonym: "intracranial arterial diseases" EXACT [] synonym: "intracranial arterial disorder" EXACT [] xref: EFO:1000990 xref: MESH:D020765 xref: MONDO:0006808 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:13094 name: branch retinal artery occlusion synonym: "retinal arterial branch occlusion" EXACT [] xref: ICD10CM:H34.23 xref: ICD9CM:362.32 xref: NCI:C34436 is_a: DOID:8483 ! retinal artery occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13095 name: vertebral artery insufficiency synonym: "vertebral artery insufficiencies" EXACT [] synonym: "vertebral artery ischemia" EXACT [] synonym: "vertebral artery stenoses" EXACT [] synonym: "vertebral artery stenosis" EXACT [] synonym: "vertebral artery syndrome" EXACT [] xref: MONDO:0001631 is_a: DOID:0050828 ! artery disease is_a: DOID:224 ! transient cerebral ischemia is_a: DOID:225 ! syndrome [Term] id: DOID:13096 name: Sneddon syndrome alt_id: MIM:182410 def: "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. (DO)" [PMID:25075847 "DO"] synonym: "DEFICIENCY OF ADENOSINE DEAMINASE 2" BROAD [] synonym: "Ehrmann-Sneddon syndrome" EXACT [] synonym: "idiopathic livedo reticularis with systemic involvement" EXACT [] synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT [] synonym: "livedo reticularis and cerebrovascular accidents" EXACT [] synonym: "livedo reticularis, systemic involvement" EXACT [] synonym: "SNDNS" EXACT [] synonym: "Sneddon Champion syndrome" EXACT [] xref: EFO:1001186 xref: GARD:7664 xref: MESH:D018860 xref: MONDO:0008436 xref: ORDO:820 is_a: DOID:0050828 ! artery disease is_a: DOID:225 ! syndrome is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:13097 name: intracranial arteriosclerosis alt_id: RDO:0005160 def: "Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." [MESH:D002537] synonym: "Cerebral Arterioscleroses" EXACT [] synonym: "Cerebral Arteriosclerosis" EXACT [] synonym: "Intracranial Arterioscleroses" EXACT [] synonym: "intracranial atheroscleroses" EXACT [] synonym: "intracranial atherosclerosis" EXACT [] xref: MESH:D002537 is_a: DOID:13089 ! intracranial arterial disease is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:13098 name: central retinal artery occlusion def: "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. (DO)" [http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion "DO"] xref: ICD10CM:H34.1 xref: ICD9CM:362.31 xref: MONDO:0001633 xref: NCI:C34456 is_a: DOID:8483 ! retinal artery occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13099 name: Moyamoya disease def: "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. (DO)" [http://en.wikipedia.org/wiki/Moyamoya_disease "DO"] synonym: "cerebrovascular Moyamoya disease" EXACT [] synonym: "classic Moyamoya disease" EXACT [] synonym: "Moya Moya disease" EXACT [] synonym: "Moyamoya syndrome" EXACT [] synonym: "MYMY" EXACT [] synonym: "primary Moyamoya disease" NARROW [] synonym: "primary Moyamoya diseases" NARROW [] synonym: "progressive intracranial arterial occlusion" EXACT [] synonym: "progressive intracranial occlusive arteropathy (Moyamoya)" EXACT [] synonym: "secondary Moyamoya disease" NARROW [] xref: GARD:7064 xref: ICD10CM:I67.5 xref: ICD9CM:437.5 xref: MESH:D009072 xref: MIM:PS252350 xref: MONDO:0016820 xref: NCI:C84895 xref: ORDO:2573 xref: ORDO:280679 xref: ORDO:401945 is_a: DOID:3407 ! carotid artery disease is_a: DOID:3527 ! cerebral arterial disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:13100 name: intracranial vasospasm def: "Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." [MESH:D020301] synonym: "Cerebral Angiospasm" EXACT [] synonym: "cerebral angiospasms" EXACT [] synonym: "Cerebral Artery Spasm" EXACT [] synonym: "Cerebral Artery Spasms" EXACT [] synonym: "Cerebral Vasospasm" EXACT [] synonym: "Cerebral Vasospasms" EXACT [] synonym: "Cerebrovascular Spasm" EXACT [] synonym: "Cerebrovascular Spasms" EXACT [] synonym: "Intracranial Angiospasm" EXACT [] synonym: "Intracranial Angiospasms" EXACT [] synonym: "Intracranial Vascular Spasm" EXACT [] synonym: "Intracranial Vascular Spasms" EXACT [] synonym: "intracranial vasospasms" EXACT [] xref: EFO:1000994 xref: MESH:D020301 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:13109 name: bladder leiomyoma def: "A bladder benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/ "DO"] synonym: "leiomyoma of the urinary bladder" EXACT [] xref: NCI:C6178 xref: RDO:9003328 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13110 name: bladder squamous papilloma xref: NCI:C39834 xref: RDO:9005052 is_a: DOID:0050623 ! bladder benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:13112 name: mechanical entropion xref: ICD9CM:374.02 is_a: DOID:12397 ! entropion [Term] id: DOID:13113 name: cicatricial entropion xref: ICD9CM:374.04 is_a: DOID:12397 ! entropion [Term] id: DOID:13117 name: paronychia def: "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. (DO)" [http://en.wikipedia.org/wiki/Paronychia "DO"] synonym: "fungal nail infection" EXACT [] synonym: "infected nailfold" EXACT [] synonym: "Onychia and paronychia of finger" EXACT [] synonym: "Onychia and paronychia of toe" EXACT [] synonym: "paronychia inflammation" RELATED [] synonym: "Paronychias" EXACT [] xref: EFO:0007421 xref: ICD10CM:L03.0 xref: MESH:D010304 xref: NCI:C79702 is_a: DOID:4123 ! nail disease is_a: DOID:9000859 ! Infectious Skin Diseases [Term] id: DOID:1312 name: focal segmental glomerulosclerosis def: "A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." [MESH:D005923] synonym: "FGS" EXACT [] synonym: "focal glomerular sclerosis" EXACT [] synonym: "Focal Glomerulosclerosis" EXACT [] synonym: "Focal Sclerosing Glomerulonephritides" EXACT [] synonym: "Focal Sclerosing Glomerulonephritis" EXACT [] synonym: "FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY" NARROW [] synonym: "FSGS" EXACT [] synonym: "INHERITED FOCAL SEGMENTAL GLOMERULOSCLEROSIS" NARROW [] synonym: "Segmental Glomerular Hyalinosis" EXACT [] synonym: "Segmental Hyalinosis" EXACT [] xref: EFO:0004236 xref: GARD:6517 xref: MESH:D005923 xref: MIM:PS603278 xref: NCI:C37308 is_a: DOID:0050851 ! glomerulosclerosis [Term] id: DOID:13120 name: protein-deficiency anemia alt_id: DOID:13121 def: "A nutritional deficiency disease that is characterized by inadequate protein intake. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4615-7308-1_21 "DO"] synonym: "anemia due to protein deficiency" EXACT [] synonym: "deficiency anemia" EXACT [] synonym: "deficiency anemias" EXACT [] synonym: "protein-deficiency anaemia" EXACT [] xref: ICD10CM:D53.0 xref: ICD9CM:281.4 xref: MONDO:0001638 is_a: DOID:2355 ! anemia is_a: DOID:9004989 ! Protein Deficiency created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13127 name: gonococcal spondylitis xref: ICD9CM:098.53 is_a: DOID:6590 ! spondylitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13129 name: severe pre-eclampsia def: "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. (DO)" [PMID:25373431 "DO", PMID:28793357 "DO"] synonym: "antepartum severe pre-eclampsia" EXACT [] synonym: "postpartum severe pre-eclampsia" EXACT [] synonym: "severe preeclampsia" EXACT [] synonym: "severe pre-eclampsia, with delivery" EXACT [] xref: ICD9CM:642.50 is_a: DOID:10591 ! pre-eclampsia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13133 name: HELLP syndrome def: "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. (DO)" [PMID:24400024 "DO", PMID:25879992 "DO"] synonym: "hemolysis, elevated liver enzymes, lowered platelets" EXACT [] xref: EFO:0007297 xref: GARD:8528 xref: ICD10CM:O14.2 xref: MESH:D017359 xref: NCI:C84750 is_a: DOID:13129 ! severe pre-eclampsia is_a: DOID:225 ! syndrome [Term] id: DOID:13134 name: hordeolum externum def: "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. (DO)" [http://en.wikipedia.org/wiki/Stye "DO"] synonym: "external stye" EXACT [] xref: ICD10CM:H00.01 xref: ICD9CM:373.11 xref: MONDO:0001642 is_a: DOID:9423 ! blepharitis is_a: DOID:9909 ! hordeolum created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13135 name: exophthalmic ophthalmoplegia xref: ICD9CM:376.22 xref: MONDO:0001643 is_a: DOID:12359 ! endocrine exophthalmos is_a: DOID:539 ! ophthalmoplegia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13137 name: Werdnig-Hoffmann disease def: "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. (DO)" [PMID:10700541 "DO"] synonym: "acute spinal muscular atrophy" EXACT [] synonym: "hereditary motor neuropathy proximal type I" EXACT [] synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [] synonym: "infantile muscular atrophy" EXACT [] synonym: "infantile spinal muscular atrophy" EXACT [] synonym: "progressive muscular atrophy of infancy" EXACT [] synonym: "SMA1" EXACT [] synonym: "SMA I" EXACT [] synonym: "SMA, infantile acute form" EXACT [] synonym: "spinal muscular atrophy type 1" EXACT [] synonym: "spinal muscular atrophy type I" EXACT [] synonym: "Werdnig-Hoffman disease" EXACT [] xref: GARD:7883 xref: ICD10CM:G12.0 xref: ICD9CM:335.0 xref: MIM:253300 xref: MONDO:0009669 xref: NCI:C98670 is_a: DOID:0060160 ! childhood spinal muscular atrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13138 name: acute proliferative glomerulonephritis synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [] xref: ICD9CM:580.0 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13139 name: crescentic glomerulonephritis def: "A syndrome of the kidney that is characterized by a rapid loss of renal function involving severe injury to the kidneys' glomeruli, with many of the glomeruli containing characteristic glomerular crescents (crescent-shaped scars)." [] synonym: "NCGN" RELATED [] synonym: "necrotizing crescentic glomerulonephritis" RELATED [] synonym: "RPGN" EXACT [] xref: NCI:C128143 xref: NCI:C35444 is_a: DOID:13138 ! acute proliferative glomerulonephritis is_a: DOID:225 ! syndrome is_a: DOID:4776 ! rapidly progressive glomerulonephritis [Term] id: DOID:13140 name: suppurative uveitis def: "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. (DO)" [https://www.djo.org.in/articles/26/4/uveitis-classification1.html "DO", https://www.slideshare.net/Jihajie/uveitis-56740528 "DO"] synonym: "suppurative uveitides" EXACT [] xref: EFO:1001203 xref: MESH:D015829 is_a: DOID:13141 ! uveitis is_a: DOID:4692 ! endophthalmitis is_a: DOID:9001949 ! Fungal Eye Infections is_a: DOID:9005473 ! Bacterial Eye Infections is_a: DOID:9005889 ! Suppuration [Term] id: DOID:13141 name: uveitis def: "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. (DO)" [https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734 "DO"] synonym: "uveitides" EXACT [] xref: EFO:1001231 xref: ICD10CM:H20.9 xref: MESH:D014605 xref: NCI:C26909 is_a: DOID:3480 ! uveal disease [Term] id: DOID:13143 name: benign secondary hypertension xref: ICD9CM:405.1 xref: NCI:C3658 xref: RDO:9001820 is_a: DOID:11130 ! secondary hypertension created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:13145 name: benign renovascular hypertension def: "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. (DO)" [https://medlineplus.gov/ency/article/000204.htm "DO"] xref: ICD9CM:405.11 xref: RDO:9003036 is_a: DOID:1073 ! renal hypertension is_a: DOID:13143 ! benign secondary hypertension created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13146 name: esophageal candidiasis def: "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. (DO)" [http://en.wikipedia.org/wiki/Esophageal_candidiasis "DO"] synonym: "candida esophagitis" EXACT [] synonym: "candidal esophagitis" EXACT [] synonym: "candidiasis of the esophagus" EXACT [] synonym: "esophageal moniliasis" EXACT [] synonym: "esophageal thrush" EXACT [] xref: ICD10CM:B37.81 xref: ICD9CM:112.84 xref: NCI:C27027 is_a: DOID:1508 ! candidiasis is_a: DOID:6050 ! esophageal disease created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13147 name: fungal esophagitis xref: MONDO:0001649 xref: NCI:C27107 is_a: DOID:11963 ! esophagitis is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13148 name: acute cystitis def: "A cystitis characterized by a sudden onset or severe symptoms. (DO)" [http://en.wikipedia.org/wiki/Urinary_tract_infection "DO"] xref: ICD10CM:N30.0 xref: ICD9CM:595.0 xref: NCI:C26934 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:13159 name: scrotum squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the scrotum. (DO)" [PMID:26113906 "DO"] synonym: "scrotal squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of scrotum" EXACT [] xref: NCI:C4643 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3445 ! scrotal carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13160 name: scrotum melanoma synonym: "melanoma of scrotum" EXACT [] xref: NCI:C7361 xref: RDO:9001847 is_a: DOID:1909 ! melanoma is_a: DOID:518 ! scrotum neoplasm created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:13166 name: allergic bronchopulmonary aspergillosis alt_id: MIM:103920 def: "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. (DO)" [http://www.merck.com/mmhe/sec04/ch051/ch051d.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm "DO"] synonym: "allergic bronchopulmonary aspergilloses" EXACT [] synonym: "pulmonary aspergillus disease" EXACT [] xref: EFO:0007140 xref: GARD:602 xref: ICD10CM:B44.81 xref: ICD9CM:518.6 xref: MESH:D001229 xref: NCI:C84547 is_a: DOID:0050073 ! invasive aspergillosis is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:13168 name: prepuce cancer synonym: "malignant neoplasm of foreskin" EXACT [] synonym: "malignant tumor of foreskin" EXACT [] xref: ICD10CM:C60.0 xref: ICD9CM:187.1 is_a: DOID:11615 ! penile cancer is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13169 name: spermatic cord cancer def: "malignant tumor of spermatic cord" [] synonym: "malignant tumor of spermatic cord" EXACT [SNOMEDCT_2005_07_31:363453008] synonym: "malignant tumor of the Spermatic Cord" EXACT [NCI2004_11_17:C3559] synonym: "Spermatic cord Ca" EXACT [] xref: ICD10CM:C63.1 xref: ICD9CM:187.6 xref: NCI:C3559 is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:13174 name: dissociated nystagmus xref: ICD10CM:H55.04 xref: ICD9CM:379.55 is_a: DOID:9650 ! pathologic nystagmus created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13185 name: esophageal diverticulosis def: "A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." [MESH:D045723] xref: EFO:1000930 xref: MESH:D045723 xref: MONDO:0006754 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:13186 name: megaesophagus xref: MONDO:0001656 xref: NCI:C34811 is_a: DOID:6050 ! esophageal disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13189 name: gout alt_id: MIM:138900 alt_id: MIM:612671 def: "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. (DO)" [http://en.wikipedia.org/wiki/Gout "DO", http://www.mayoclinic.com/health/gout/DS00090 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm "DO"] synonym: "articular gout" EXACT [] synonym: "GOUT1" RELATED [] synonym: "GOUT4" RELATED [] synonym: "Gouts" EXACT [] synonym: "GOUT SUSCEPTIBILITY 1" RELATED [] synonym: "GOUT SUSCEPTIBILITY 4" RELATED [] synonym: "gouty arthropathy" RELATED [] synonym: "renal overload-type gout" NARROW [] synonym: "Urate-Binding Globulin, Decrease in" RELATED [] xref: DOID:9006213 xref: EFO:0004274 xref: EFO:0021525 xref: ICD10CM:M10 xref: ICD9CM:274 xref: ICD9CM:274.0 xref: MESH:C566013 xref: MESH:D006073 xref: MIM:191530 xref: NCI:C34650 is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:848 ! arthritis is_a: DOID:9005593 ! Crystal Arthropathies [Term] id: DOID:1319 name: brain cancer def: "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. (DO)" [http://www.cancer.gov/dictionary?CdrID=387264 "DO"] synonym: "adult malignant brain neoplasm" NARROW [] synonym: "brain cancers" EXACT [] synonym: "brain neoplasm, adult" EXACT [] synonym: "cancer of brain" EXACT [] synonym: "malignant brain tumour" EXACT [] synonym: "malignant primary brain neoplasm" EXACT [] synonym: "malignant primary brain tumor" EXACT [] synonym: "malignant tumor of adult brain" EXACT [] synonym: "malignant tumor of brain" EXACT [] synonym: "primary malignant neoplasm of brain" EXACT [] synonym: "tumor of the brain" EXACT [] xref: EFO:0003833 xref: ICD10CM:C71 xref: ICD9CM:191 xref: ICD9CM:239.6 xref: MONDO:0001657 xref: NCI:C170814 xref: NCI:C2907 xref: NCI:C3568 xref: NCI:C5115 xref: NCI:C7710 is_a: DOID:3620 ! central nervous system cancer is_a: DOID:9007502 ! Brain Neoplasms created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13195 name: nontoxic goiter synonym: "Nodule-thyroid, non tox" EXACT [] synonym: "non-toxic goiter" EXACT [] synonym: "non-toxic goitre" EXACT [] synonym: "non-toxic simple goitre" EXACT [] xref: ICD10CM:E04.9 xref: NCI:C35271 is_a: DOID:12176 ! goiter created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13196 name: lingual goiter def: "Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." [MESH:D047268] synonym: "lingual goiters" EXACT [] xref: EFO:1001018 xref: MESH:D047268 is_a: DOID:12176 ! goiter is_a: DOID:9000704 ! Lingual Thyroids [Term] id: DOID:13197 name: nodular goiter alt_id: RDO:0001381 def: "An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." [MESH:D006044] synonym: "Nodular Goiters" EXACT [] synonym: "nodular goitre" EXACT [] xref: EFO:1001062 xref: MESH:D006044 xref: NCI:C131437 is_a: DOID:12176 ! goiter [Term] id: DOID:13198 name: endemic goiter def: "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. (DO)" [https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html "DO"] synonym: "endemic goiters" EXACT [] synonym: "Iodine-deficiency-related endemic goitre" EXACT [] synonym: "simple goitre" EXACT [] xref: EFO:1000916 xref: ICD10CM:E01.2 xref: ICD9CM:240.0 xref: MESH:D006043 xref: NCI:C35023 is_a: DOID:12176 ! goiter is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:13200 name: substernal goiter def: "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045] synonym: "Intrathoracic Goiter" EXACT [] synonym: "Intrathoracic Goiters" EXACT [] synonym: "retrosternal thyroid goiter" EXACT [] synonym: "Retrosternal thyroid goitre" EXACT [] synonym: "Substernal Goiters" EXACT [] synonym: "substernal goitre" EXACT [] xref: EFO:1001198 xref: MESH:D006045 is_a: DOID:12176 ! goiter [Term] id: DOID:13206 name: nodular prostate xref: ICD10CM:N40 xref: ICD9CM:600.1 is_a: DOID:11132 ! prostatic hypertrophy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13207 name: proliferative diabetic retinopathy def: "This advanced, severe stage of diabetic retinopathy mainly occurs when many of the blood vessels in the retina close, preventing sufficient blood flow. In an attempt to supply blood to the area where the original vessels closed, the retina responds by growing new blood vessels, which is called neovascularization." [] synonym: "High risk PDR" EXACT [] synonym: "High risk proliferative diabetic retinopathy" EXACT [] synonym: "High risk proliferative retinopathy" EXACT [] synonym: "PDR" EXACT [] xref: EFO:0009322 xref: ICD9CM:362.02 xref: MONDO:0001660 xref: NCI:C84457 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:13208 name: background diabetic retinopathy def: "This is the earliest stage of diabetic retinopathy, which involves damaged blood vessels in the retina beginning to leak extra fluid and small amounts of blood into the eye." [] synonym: "BDR" EXACT [] synonym: "Non proliferative diabetic retinopathy" EXACT [] synonym: "nonproliferative diabetic retinopathy" EXACT [] synonym: "NPDR" EXACT [] xref: EFO:0009760 xref: ICD9CM:362.03 xref: NCI:C35668 xref: RDO:9000105 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:13209 name: right bundle branch block synonym: "right bundle branch blocks" EXACT [] synonym: "right bundle branch block with left posterior fascicular block" EXACT [] xref: ICD9CM:426.51 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9003912 ! Bundle-Branch Block [Term] id: DOID:13214 name: hole retinal cyst synonym: "Macular cyst, hole, or pseudohole of retina" EXACT [] synonym: "Macular cyst or hole" EXACT [] synonym: "Macular pseudohole retinal cyst" EXACT [] xref: ICD10CM:H35.34 xref: ICD9CM:362.54 is_a: DOID:2007 ! degeneration of macula and posterior pole created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:13222 name: submucous uterine fibroid def: "An uterine fibroid that is located adjacent to the lining of the uterus. (DO)" [PMID:25177608 "DO"] synonym: "submucous leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.0 xref: ICD9CM:218.0 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13223 name: uterine fibroid def: "An uterine benign neoplasm derived from the smooth muscle layer of the uterus. (DO)" [http://en.wikipedia.org/wiki/Uterine_fibroid "DO", http://www.nlm.nih.gov/medlineplus/uterinefibroids.html "DO"] synonym: "leiomyoma of corpus uteri" EXACT [] synonym: "plexiform leiomyoma" EXACT [] synonym: "UL" EXACT [] synonym: "uterine fibroids" EXACT [] synonym: "uterine leiomyoma" EXACT [] synonym: "uterus fibroma" EXACT [] xref: EFO:0000731 xref: ICD10CM:D25 xref: ICD9CM:218 xref: MIM:150699 xref: NCI:C3434 is_a: DOID:0050871 ! fibroma is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13226 name: oculoglandular tularemia def: "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] xref: ICD10CM:A21.1 xref: ICD9CM:021.3 is_a: DOID:2123 ! tularemia is_a: DOID:75 ! lymphatic system disease is_a: DOID:9008201 ! Eye Infections created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:13227 name: retinal dystrophies primarily involving Bruch's membrane synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [] xref: ICD9CM:362.77 xref: MONDO:0001666 is_a: DOID:8501 ! fundus dystrophy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13238 name: Haverhill fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. (DO)" [https://en.wikipedia.org/wiki/Haverhill_fever "DO"] synonym: "streptobacillary fever" EXACT [] synonym: "Streptobacillary rat-bite fever" RELATED [] synonym: "Streptobacillosis" RELATED [] xref: ICD10CM:A25.1 xref: ICD9CM:026.1 is_a: DOID:0050338 ! primary bacterial infectious disease created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:13239 name: internal pathological resorption xref: ICD9CM:521.41 xref: MONDO:0001668 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:1324 name: lung cancer def: "A respiratory system cancer that is located_in the lung. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"] synonym: "adenocarcinoma of lung" NARROW [] synonym: "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic" RELATED [] synonym: "ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO" RELATED [] synonym: "cancer of lung" EXACT [] synonym: "cancer of the lung" EXACT [] synonym: "CHRNA3-RELATED CONDITION" BROAD [] synonym: "EGFR-RELATED CONDITION" BROAD [] synonym: "EGFR-RELATED LUNG CANCER" NARROW [] synonym: "LNCR1" RELATED [] synonym: "LNCR2" RELATED [] synonym: "LNCR3" RELATED [] synonym: "LNCR4" RELATED [] synonym: "LNCR5" RELATED [] synonym: "LUNG CANCER, PROTECTION AGAINST" RELATED [] synonym: "LUNG CANCER, PROTECTION AGAINST, IN SMOKERS" RELATED [] synonym: "lung cancers" EXACT [] synonym: "lung cancer, somatic" NARROW [] synonym: "lung cancer susceptibility 1" RELATED [] synonym: "lung cancer susceptibility 2" RELATED [] synonym: "lung cancer susceptibility 3" RELATED [] synonym: "lung cancer susceptibility 4" RELATED [] synonym: "lung cancer susceptibility 5" RELATED [] synonym: "lung cancer, susceptibility to" RELATED [] synonym: "MAP3K8-RELATED CONDITION" EXACT [] synonym: "PPP2R1B-RELATED CONDITION" EXACT [] synonym: "pulmonary cancer" EXACT [] synonym: "pulmonary cancers" EXACT [] xref: ICD10CM:C34.1 xref: ICD10CM:C34.2 xref: ICD10CM:C34.3 xref: ICD9CM:162.3 xref: ICD9CM:162.4 xref: ICD9CM:162.5 xref: ICD9CM:162.8 xref: MIM:211980 xref: MIM:608935 xref: MIM:612052 xref: MIM:612571 xref: MIM:612593 xref: MIM:614210 xref: MONDO:0008903 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9005172 ! Lung Neoplasms created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:13240 name: tooth resorption def: "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" [] synonym: "tooth resorptions" EXACT [] xref: ICD9CM:521.4 xref: MESH:D014091 is_a: DOID:1091 ! tooth disease is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:13241 name: Behcet's disease def: "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes. (DO)" [http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease "DO", http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK470257/ "DO"] synonym: "Adamantiades-Behcet disease" EXACT [] synonym: "Adamantiades-Behcet Diseases" EXACT [] synonym: "BD" EXACT [] synonym: "Behcet's Syndrome" EXACT [] synonym: "Behcet disease" EXACT [] synonym: "Behcet Syndrome" EXACT [] synonym: "Behcet Triple Symptom Complex" EXACT [] synonym: "Behet's syndrome" EXACT [] synonym: "Behçet disease" EXACT [] synonym: "old silk route disease" EXACT [] synonym: "triple symptom complex" EXACT [] xref: EFO:0003780 xref: GARD:848 xref: ICD10CM:M35.2 xref: ICD9CM:136.1 xref: MESH:D001528 xref: MIM:109650 xref: MONDO:0007191 xref: NCI:C34416 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:1407 ! anterior uveitis is_a: DOID:403 ! mouth disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:865 ! vasculitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:13248 name: mucocele of appendix synonym: "appendicele mucocele" EXACT [] xref: NCI:C3241 is_a: DOID:5295 ! intestinal disease is_a: DOID:9004508 ! Mucocele created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13249 name: pneumatosis cystoides intestinalis def: "A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." [MESH:D011006] xref: EFO:1001113 xref: MESH:D011006 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1325 name: bronchus cancer def: "A respiratory system cancer that is located_in the bronchus. (DO)" [http://en.wikipedia.org/wiki/Bronchus "DO"] synonym: "malignant neoplasm of bronchus and lung" EXACT [] synonym: "malignant neoplasm of bronchus and lung, unspecified" EXACT [] synonym: "malignant neoplasm of bronchus or lung" EXACT [] synonym: "malignant neoplasm of bronchus or lung, unspecified" EXACT [] xref: ICD10CM:C34 xref: ICD9CM:162.9 is_a: DOID:1324 ! lung cancer is_a: DOID:9001241 ! Bronchial Neoplasms created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:13250 name: diarrhea def: "A gastrointestinal system disease described as the condition of having 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. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] synonym: "diarrhea of presumed infectious origin" RELATED [] synonym: "diarrheas" EXACT [] synonym: "diarrhoea" EXACT [] xref: MESH:D003967 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:13252 name: mesenteric vascular occlusion def: "Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [MESH:D008641] synonym: "mesenteric vascular occlusions" EXACT [] xref: EFO:1001043 xref: MESH:D008641 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:5295 ! intestinal disease is_a: DOID:9006175 ! Peritoneal Diseases is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:13254 name: diverticulitis of colon def: "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. (DO)" [https://en.wikipedia.org/wiki/Diverticulitis "DO"] synonym: "colonic diverticular disease" EXACT [] synonym: "colonic diverticulitis" EXACT [] xref: MESH:D004239 is_a: DOID:5353 ! colonic disease is_a: DOID:7475 ! diverticulitis is_a: DOID:9007768 ! Colonic Diverticulosis [Term] id: DOID:13258 name: typhoid fever def: "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. (DO)" [http://www.merriam-webster.com/medlineplus/typhoid%20fever "DO"] synonym: "Abdominal Typhus" EXACT [] synonym: "Enteric Fever" EXACT [] synonym: "enteric fevers" EXACT [] synonym: "Typhoid" EXACT [] synonym: "Typhoid Fevers" EXACT [] synonym: "typhoids" EXACT [] xref: EFO:0006789 xref: GARD:9564 xref: ICD10CM:A01.0 xref: ICD9CM:002.0 xref: MESH:D014435 xref: NCI:C35089 is_a: DOID:0060859 ! salmonellosis [Term] id: DOID:13268 name: porphyria def: "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (DO)" [http://en.wikipedia.org/wiki/Porphyria#Subtypes "DO", https://www.genome.gov/Genetic-Disorders/Porphyria "DO"] synonym: "disorder of porphyrin and hem metabolism" EXACT [] synonym: "disorder of porphyrin metabolism" EXACT [] synonym: "hematoporphyria" EXACT [] synonym: "HFE POLYMORPHISM" RELATED [] synonym: "porphyrias" EXACT [] synonym: "Porphyrin Disorder" EXACT [] synonym: "Porphyrin Disorders" EXACT [] synonym: "porphyrinopathy" EXACT [] xref: EFO:0000665 xref: GARD:10353 xref: ICD10CM:E80.20 xref: ICD9CM:277.1 xref: MESH:D011164 xref: MONDO:0037939 xref: NCI:C97096 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:13269 name: hereditary coproporphyria alt_id: DOID:9005794 def: "An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS." [MESH:D046349] synonym: "Coproporphyria" EXACT [] synonym: "COPROPORPHYRIA, DIGENIC" NARROW [] synonym: "coproporphyrinogen oxidase deficiency" EXACT [] synonym: "CPO deficiency" EXACT [] synonym: "CPOX deficiency" EXACT [] synonym: "CPOX-related condition" EXACT [] synonym: "CPOX-related disorders" EXACT [] synonym: "CPX deficiency" EXACT [] synonym: "HCP" EXACT [] synonym: "hereditary coproporphyria porphyria" EXACT [] synonym: "Porphyria Hepatica, Coproporphyria" EXACT [] synonym: "porphyria hepatica II" EXACT [] xref: GARD:6619 xref: ICD10CM:E80.29 xref: MESH:C535469 xref: MESH:D046349 xref: MIM:121300 xref: MONDO:0007369 xref: NCI:C84759 is_a: DOID:0080578 ! digenic disease is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:13270 name: erythropoietic protoporphyria def: "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (DO)" [http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria "DO"] synonym: "EPP" EXACT [] synonym: "erythrohepatic protoporphyria" EXACT [] synonym: "erythropoietic protoporphyrias" EXACT [] synonym: "Ferrochelatase Deficiencies" EXACT [] synonym: "Ferrochelatase Deficiency" EXACT [] synonym: "Heme Synthetase Deficiencies" EXACT [] synonym: "heme synthetase deficiency" EXACT [] synonym: "protoporphyria" EXACT [] xref: GARD:4527 xref: MESH:D046351 xref: MIM:PS177000 xref: NCI:C84698 xref: ORDO:79278 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:13271 name: cutaneous porphyria def: "An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS." [MESH:D017092] synonym: "CEP" EXACT [] synonym: "congenital erythropoietic porphyria" EXACT [] synonym: "Congenital Erythropoietic Porphyrias" EXACT [] synonym: "Deficiency of Uroporphyrinogen III Synthase" EXACT [] synonym: "Erythropoietic Porphyrias" EXACT [] synonym: "Gunther's Disease" EXACT [] synonym: "Gunther Disease" EXACT [] synonym: "Gunthers Disease" EXACT [] synonym: "Porphyria, Erythropoietic" EXACT [] synonym: "UROPORPHYRINOGEN III SYNTHASE DEFICIENCY" EXACT [] synonym: "UROS deficiency" EXACT [] synonym: "UROS-related condition" BROAD [] xref: GARD:4446 xref: ICD10CM:E80.0 xref: MESH:D017092 xref: MIM:263700 xref: MONDO:0009902 xref: NCI:C84697 is_a: DOID:13268 ! porphyria is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:13272 name: Klebsiella pneumonia def: "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. (DO)" [http://en.wikipedia.org/wiki/Klebsiella_pneumonia "DO", PMID:1555037 "DO"] synonym: "Pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM_2006:482.0] synonym: "Pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [SNOMEDCT_2005_07_31:64479007] xref: ICD10CM:J15.0 xref: ICD9CM:482.0 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9003828 ! Klebsiella Infections created_by: rgd creation_date: 2018-06-19T00:00:00Z [Term] id: DOID:13276 name: Mycoplasma pneumoniae pneumonia def: "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm "DO", PMID:20632053 "DO"] synonym: "cold agglutinin positive pneumonia" EXACT [] synonym: "mycoplasmal pneumonia" EXACT [] synonym: "mycoplasma pneumonia" EXACT [] synonym: "mycoplasma pneumonias" EXACT [] synonym: "pneumonia due to Eaton's agent" EXACT [] synonym: "pneumonia due to mycoplasma pneumoniae" EXACT [] synonym: "pneumonia due to mycoplasma pneumoniae (disorder)" EXACT [] synonym: "Primary Atypical Pneumonia" EXACT [] synonym: "primary atypical pneumonias" EXACT [] xref: EFO:0007387 xref: ICD10CM:J15.7 xref: ICD9CM:483.0 xref: MESH:D011019 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9002467 ! Mycoplasma Infections [Term] id: DOID:1328 name: Rift Valley fever def: "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. (DO)" [http://www.who.int/mediacentre/factsheets/fs207/en/ "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC8009587/ "DO", https://www.who.int/news-room/fact-sheets/detail/rift-valley-fever "DO"] xref: ICD10CM:A92.4 xref: MESH:D012295 xref: MONDO:0017880 xref: NCI:C128419 xref: ORDO:319251 is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007579 ! Arbovirus Infections is_a: DOID:9007899 ! Animal Viral Hepatitis [Term] id: DOID:13282 name: intestinal tuberculosis def: "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. (DO)" [http://smj.sma.org.sg/5006/5006pe1.pdf "DO"] synonym: "tuberculosis of intestine" EXACT [] xref: ICD9CM:014.8 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:13295 name: crater-like holes of optic disc synonym: "crater-like optic disc holes" EXACT [] xref: ICD9CM:377.22 is_a: DOID:1393 ! visual pathway disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:133 name: vaginal Mullerian papilloma def: "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. (DO)" [PMID:26948653 "DO"] synonym: "vaginal Muellerian papilloma" EXACT [] xref: NCI:C40255 is_a: DOID:0060114 ! vaginal benign neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13300 name: Scheuermann's disease alt_id: MIM:181440 def: "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. (DO)" [http://en.wikipedia.org/wiki/Scheuermann%27s_disease "DO", https://www.merriam-webster.com/medical/Scheuermann%27s%20disease "DO"] synonym: "adolescent kyphoses" EXACT [] synonym: "Adolescent Kyphosis" EXACT [] synonym: "juvenile kyphoses" EXACT [] synonym: "Juvenile Kyphosis" EXACT [] synonym: "juvenile osteochondritis of the spine" EXACT [] synonym: "juvenile osteochondrosis of Scheurermann" EXACT [] synonym: "Juvenile Osteochondrosis of Spine" EXACT [] synonym: "Scheuermann's kyphoses" EXACT [] synonym: "Scheuermann's kyphosis" EXACT [] synonym: "Scheuermann disease" EXACT [] synonym: "Scheuermann juvenile kyphoses" EXACT [] synonym: "Scheuermann Juvenile Kyphosis" EXACT [] synonym: "Scheuermann Kyphoses" EXACT [] synonym: "Scheuermann Kyphosis" EXACT [] synonym: "Scheuermanns Disease" EXACT [] synonym: "Scheuermanns kyphosis" EXACT [] synonym: "Sherman's disease" EXACT [] synonym: "spine juvenile osteochondroses" EXACT [] synonym: "spine juvenile osteochondrosis" EXACT [] xref: GARD:7610 xref: ICD10CM:M42.0 xref: ICD10CM:M42.00 xref: ICD9CM:732.0 xref: MESH:D012544 xref: NCI:C34999 is_a: DOID:4667 ! kyphosis is_a: DOID:9008900 ! Spinal Osteochondrosis [Term] id: DOID:13306 name: diphtheritic cystitis def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. (DO)" [http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false "DO", PMID:18889690 "DO"] xref: ICD10CM:A36.85 xref: ICD9CM:032.84 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13310 name: diphtheritic peritonitis def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. (DO)" [http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false "DO"] xref: ICD10CM:A36.89 xref: ICD9CM:032.83 is_a: DOID:8283 ! peritonitis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13313 name: pancreatic mucinous ductal ectasia xref: MONDO:0001683 xref: NCI:C5717 is_a: DOID:26 ! pancreas disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13316 name: exocrine pancreatic insufficiency def: "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK555926/ "DO"] synonym: "EPI" EXACT [] synonym: "exocrine pancreatic insufficiencies" EXACT [] synonym: "pancreatic insufficiencies" EXACT [] synonym: "pancreatic insufficiency" EXACT [] xref: ICD10CM:K86.81 xref: MESH:D010188 xref: MONDO:0001684 xref: NCI:C84316 is_a: DOID:26 ! pancreas disease [Term] id: DOID:13317 name: hyperinsulinemic hypoglycemia def: "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (DO)" [http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia "DO"] synonym: "autosomal recessive hyperinsulinism" EXACT [] synonym: "familial hyperinsulinism with pancreatic nesidioblastosis" EXACT [] synonym: "hyperinsulinemia hypoglycemia of infancy" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" EXACT [] synonym: "hyperinsulinemic hypoglycemia of infancy" EXACT [] synonym: "infancy hyperinsulinemia hypoglycemia" EXACT [] synonym: "islet cell hyperplasia" EXACT [] synonym: "nesidioblastoses" EXACT [] synonym: "nesidioblastosis" EXACT [] synonym: "nesidioblastosis of pancreas" EXACT [] synonym: "pancreas nesidioblastosis" EXACT [] synonym: "pancreatic nesidioblastoses" EXACT [] synonym: "pancreatic nesidioblastosis" EXACT [] synonym: "persistent hyperinsulinemia, hypoglycemia of infancy" EXACT [] synonym: "persistent hyperinsulinemic hypoglycemia" EXACT [] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [] synonym: "persistent hyperinsulinemic hypoglycemias" EXACT [] synonym: "PHHI" EXACT [] synonym: "PHHI hypoglycemia" EXACT [] synonym: "PHHI hypoglycemias" EXACT [] xref: EFO:0007318 xref: ICD10CM:E16.9 xref: MESH:C538567 xref: MESH:D046768 xref: MIM:PS256450 xref: MONDO:0005803 xref: NCI:C122923 xref: NCI:C4375 is_a: DOID:9006828 ! Congenital Hyperinsulinism is_a: DOID:9993 ! hypoglycemia created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:13326 name: chronic follicular conjunctivitis xref: ICD10CM:H10.43 xref: ICD9CM:372.12 xref: MONDO:0001685 is_a: DOID:2475 ! chronic conjunctivitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13327 name: anatomical narrow angle borderline glaucoma def: "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ "DO"] xref: ICD9CM:365.02 is_a: DOID:9283 ! borderline glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13328 name: diabetic cataract def: "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. (DO)" [PMID:23479523 "DO"] xref: ICD9CM:366.41 xref: RDO:9000785 is_a: DOID:83 ! cataract is_a: DOID:9002661 ! Diabetes Complications created_by: rgd creation_date: 2015-10-07T00:00:00Z [Term] id: DOID:13329 name: toxic optic neuropathy synonym: "toxic optic neuropathies" EXACT [] xref: ICD10CM:H46.3 xref: ICD9CM:377.34 xref: MESH:D000081028 is_a: DOID:1210 ! optic neuritis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13333 name: hypertrophy of tongue papillae synonym: "tongue papillary hypertrophy" EXACT [] xref: ICD10CM:K14.3 xref: ICD9CM:529.3 xref: MONDO:0001689 is_a: DOID:10944 ! tongue disease [Term] id: DOID:13336 name: congenital toxoplasmosis def: "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. (DO)" [http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh "DO", http://www.who.int/bulletin/volumes/91/7/12-111732.pdf "DO"] synonym: "Congenital Toxoplasma gondii Infection" EXACT [] synonym: "Congenital Toxoplasma Infection" EXACT [] synonym: "congenital toxoplasma infections" EXACT [] synonym: "congenital toxoplasmoses" EXACT [] synonym: "Fetal Toxoplasmoses" EXACT [] synonym: "Fetal Toxoplasmosis" EXACT [] synonym: "Prenatal Toxoplasmoses" EXACT [] synonym: "prenatal toxoplasmosis" EXACT [] synonym: "toxoplasmosis - congen." EXACT [] xref: EFO:0007220 xref: GARD:10326 xref: ICD10CM:P37.1 xref: MESH:D014125 xref: NCI:C50503 xref: ORDO:858 is_a: DOID:0080015 ! physical disorder is_a: DOID:9002216 ! Central Nervous System Protozoal Infections is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9965 ! toxoplasmosis [Term] id: DOID:13341 name: parasitic conjunctivitis xref: ICD9CM:372.15 is_a: DOID:2475 ! chronic conjunctivitis is_a: DOID:9004432 ! Parasitic Eye Infections created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13348 name: laryngeal cartilage cancer synonym: "malignant neoplasm of laryngeal cartilage" EXACT [] synonym: "malignant neoplasm of laryngeal cartilages" EXACT [] synonym: "malignant tumor of laryngeal cartilage" EXACT [] xref: ICD10CM:C32.3 xref: ICD9CM:161.3 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:13351 name: pedophilia def: "A sexual disorder occurring in a person 16 years or older and that is recurrent with intense sexually arousing fantasies, sexual urges, or behaviors involving sexual activity with a prepubescent child (generally age 13 or younger). (from APA, DSM-IV, 1994)." [MESH:D010378] synonym: "paedophilia" EXACT [] synonym: "pedophilias" EXACT [] xref: ICD10CM:F65.4 xref: ICD9CM:302.2 xref: MESH:D010378 xref: MONDO:0001692 xref: NCI:C94355 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:13352 name: ego-dystonic sexual orientation def: "A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. (DO)" [http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation "DO"] xref: ICD9CM:302.0 is_a: DOID:0060043 ! sexual health disorder created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13353 name: diffuse interstitial keratitis xref: ICD9CM:370.52 is_a: DOID:9857 ! interstitial keratitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13356 name: senile ectropion synonym: "involutional ectropion" EXACT [] xref: ICD9CM:374.11 is_a: DOID:1570 ! ectropion [Term] id: DOID:13357 name: chondromalacia patellae def: "A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459195 "DO"] synonym: "chondromalacia of patella" EXACT [] synonym: "softening of articular cartilage of patella" EXACT [] xref: ICD10CM:M22.4 xref: ICD9CM:717.7 xref: MESH:D046789 xref: MIM:168900 xref: MONDO:0008207 is_a: DOID:2557 ! chondromalacia [Term] id: DOID:13359 name: Ehlers-Danlos syndrome def: "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)" [http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome "DO", http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome "DO", http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 "DO", http://www.merriam-webster.com/medlineplus/ehlers-Danlos "DO", http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html "DO", https://www.ehlers-danlos.com/what-is-eds/ "DO", PMID:23711271 "DO"] synonym: "cutis elastica" EXACT [] synonym: "cutis hyperelastica" EXACT [] synonym: "Ehlers Danlos Disease" EXACT [] synonym: "elastic skin" EXACT [] xref: GARD:6322 xref: ICD10CM:Q79.6 xref: ICD9CM:756.83 xref: MESH:D004535 xref: MIM:PS130000 xref: NCI:C34568 is_a: DOID:225 ! syndrome is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:854 ! collagen disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:13365 name: reading disorder def: "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. (DO)" [http://en.wikipedia.org/wiki/Reading_disability "DO", https://en.wikipedia.org/wiki/Learning_disability "DO"] synonym: "reading disorders" EXACT [] xref: ICD9CM:315.09 is_a: DOID:8927 ! learning disability created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13366 name: Stiff-Person syndrome def: "A movement disease that is of unknown etiology characterized by progressive rigidity. (DO)" [http://en.wikipedia.org/wiki/Stiff_person_syndrome "DO"] synonym: "congenital stiff-man syndrome" EXACT [] synonym: "congenital stiff-man syndromes" EXACT [] synonym: "congenital stiff-person syndrome" EXACT [] synonym: "congenital stiff-person syndromes" EXACT [] synonym: "familial startle disease" EXACT [] synonym: "hereditary hyperekplexia" EXACT [] synonym: "Moersch Woltmann Syndrome" EXACT [] synonym: "PER" NARROW [] synonym: "PERM" NARROW [] synonym: "progressive encephalomyelitis with rigidity" NARROW [] synonym: "SPS" EXACT [] synonym: "Startle Syndrome" EXACT [] synonym: "stiff-baby syndrome" EXACT [] synonym: "stiff-baby syndromes" EXACT [] synonym: "stiff man syndrome" EXACT [] synonym: "stiffman syndrome" EXACT [] synonym: "stiff-trunk syndrome" EXACT [] synonym: "stiff-trunk syndromes" EXACT [] xref: EFO:0007498 xref: GARD:5023 xref: ICD10CM:G25.82 xref: ICD9CM:333.91 xref: MESH:C538136 xref: MESH:D016750 xref: MIM:184850 xref: MONDO:0008491 xref: NCI:C85170 is_a: DOID:0060695 ! hyperekplexia is_a: DOID:225 ! syndrome is_a: DOID:319 ! spinal cord disease is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:480 ! movement disease [Term] id: DOID:13368 name: tinea profunda def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. (DO)" [https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/tinea "DO"] synonym: "deep seated dermatophytosis" EXACT [] synonym: "granuloma trichophyticum" EXACT [] synonym: "Majocchi's granuloma" EXACT [] is_a: DOID:12179 ! tinea corporis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13369 name: tinea manuum def: "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. (DO)" [http://en.wikipedia.org/wiki/Tinea_manuum "DO"] synonym: "dermatophytosis of hand" EXACT [] synonym: "tinea manus" EXACT [] xref: ICD10CM:B35.2 xref: ICD9CM:110.2 xref: MESH:C000656824 is_a: DOID:1563 ! dermatomycosis is_a: DOID:8913 ! dermatophytosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13371 name: scrub typhus def: "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Scrub_typhus "DO"] synonym: "Chigger-borne rickettsiosis" RELATED [] synonym: "Chigger-borne typhus" RELATED [] synonym: "Japanese river fever" EXACT [] synonym: "Kedani fever" EXACT [] synonym: "Mite-borne rickettsiosis" RELATED [] synonym: "Mite-borne typhus" RELATED [] synonym: "scrub mite-borne typhus" EXACT [] synonym: "Tropical typhus" RELATED [] synonym: "Tsutsugamushi" EXACT [MTHICD9_2006:081.2] synonym: "Tsutsugamushi Disease" EXACT [] synonym: "Tsutsugamushi Diseases" EXACT [] synonym: "Tsutsugamushi Fever" EXACT [] synonym: "Tsutsugamushi Fevers" EXACT [] synonym: "Typhus fever due to Rickettsia tsutsugamushi" EXACT [] xref: EFO:0007480 xref: ICD10CM:A75.3 xref: ICD9CM:081.2 xref: MESH:D012612 is_a: DOID:11256 ! typhus is_a: DOID:9000458 ! Rickettsiaceae Infections [Term] id: DOID:13372 name: alpha 1-antitrypsin deficiency def: "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (DO)" [http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm "DO", https://alpha1.org/what-is-alpha1/ "DO", https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency "DO"] synonym: "'ANTITHROMBIN' PITTSBURGH" RELATED [] synonym: "A1ATD" EXACT [] synonym: "AAT deficiency" EXACT [] synonym: "alpha 1-antitrypsin deficiencies" EXACT [] synonym: "alpha-1-antitrypsin deficiency, autosomal recessive" EXACT [] synonym: "alpha-1 protease inhibitor deficiency" EXACT [] synonym: "Alpha-1 Related Emphysema" EXACT [] synonym: "Emphysema-cirrhosis, due to AAT deficiency" NARROW [] synonym: "Emphysema due to AAT deficiency" NARROW [] synonym: "Genetic Emphysema" EXACT [] synonym: "Hemorrhagic diathesis due to antithrombin Pittsburgh" NARROW [] synonym: "HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION" NARROW [] synonym: "Hereditary Pulmonary Emphysema" EXACT [] synonym: "Inherited Emphysema" EXACT [] synonym: "PI M(HEERLEN)" RELATED [] synonym: "PI M(NICHINAN)" RELATED [] synonym: "PI NULL(BELLINGHAM)" RELATED [] synonym: "PI NULL(CARDIFF)" RELATED [] synonym: "PI NULL(DEVON)" RELATED [] synonym: "PI NULL(ISOLA DI PROCIDA)" RELATED [] synonym: "PI NULL(Ludwigshafen)" RELATED [] synonym: "PI NULL(NEWPORT)" RELATED [] synonym: "PI NULL(PROCIDA)" RELATED [] synonym: "PI P(DUARTE)" RELATED [] synonym: "PI P(LOWELL)" RELATED [] synonym: "PI PITTSBURGH" RELATED [] synonym: "PI Q0(BELLINGHAM)" RELATED [] synonym: "PI Q0(CARDIFF)" RELATED [] synonym: "PI Q0(DEVON)" RELATED [] synonym: "PI Q0(GRANITE FALLS)" RELATED [] synonym: "PI Q0(LUDWIGSHAFEN)" RELATED [] synonym: "PI Q0(NEWPORT)" RELATED [] synonym: "PI Q0(Procida)" RELATED [] synonym: "PI S(iiyama)" RELATED [] synonym: "PI W(Bethesda)" RELATED [] synonym: "PI Z(Bristol)" RELATED [] synonym: "SERPINA1-related condition" BROAD [] xref: EFO:0002946 xref: GARD:5784 xref: ICD10CM:E88.01 xref: ICD9CM:273.4 xref: MESH:C566273 xref: MESH:D019896 xref: MIM:613490 xref: MONDO:0013282 xref: NCI:C84397 xref: ORDO:60 is_a: DOID:2345 ! plasma protein metabolism disease is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:9000206 ! Subcutaneous Emphysema [Term] id: DOID:13374 name: fibrodysplasia ossificans progressiva def: "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (DO)" [http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva "DO", http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ "DO", https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva "DO"] synonym: "ACVR1-RELATED CONDITION" EXACT [] synonym: "FOP" EXACT [] synonym: "myositis ossificans progressiva" EXACT [] synonym: "progressive myositis ossificans" EXACT [] synonym: "progressive ossifying myositis" EXACT [] synonym: "stone man syndrome" EXACT [] xref: GARD:6445 xref: ICD10CM:M61.1 xref: ICD10CM:M61.10 xref: ICD9CM:728.11 xref: MIM:135100 xref: MONDO:0007606 xref: NCI:C3040 xref: ORDO:337 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13375 name: temporal arteritis def: "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. (DO)" [https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758 "DO"] synonym: "cranial arteritis" EXACT [] synonym: "giant cell aortic arteritis" EXACT [] synonym: "Giant Cell Aortitis" EXACT [] synonym: "Giant Cell Aortitis, Horton's" EXACT [] synonym: "Giant Cell Arteritis" EXACT [] synonym: "Horton's Disease" EXACT [] synonym: "Horton's Giant Cell Arteritis" EXACT [] synonym: "Horton Disease" EXACT [] synonym: "Horton Giant Cell Arteritis" EXACT [] synonym: "Juvenile cranial arteritis" EXACT [] synonym: "juvenile giant cell arteritis" EXACT [] synonym: "juvenile polymyalgia rheumatica" EXACT [] synonym: "juvenile temporal arteritis" EXACT [] xref: EFO:1001209 xref: ICD9CM:446.5 xref: MESH:C538533 xref: MESH:D013700 xref: MIM:187360 xref: MONDO:0008538 xref: NCI:C35065 xref: ORDO:397 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:525 ! central nervous system vasculitis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9002564 ! Arteritis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:13378 name: Kawasaki disease alt_id: MESH:C537014 alt_id: MIM:611775 def: "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities. (DO)" [http://en.wikipedia.org/wiki/Kawasaki_disease "DO"] synonym: "acute febrile MCLS" EXACT [] synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [] synonym: "infantile polyarteritis" EXACT [] synonym: "Kawasaki's disease" EXACT [] synonym: "Kawasaki syndrome" EXACT [] synonym: "KD" EXACT [] synonym: "MLNS" EXACT [] synonym: "mucocutaneous lymph node syndrome" EXACT [] xref: EFO:0004246 xref: GARD:6816 xref: ICD10CM:M30.3 xref: ICD9CM:446.1 xref: MESH:D009080 xref: NCI:C34825 xref: ORDO:2331 is_a: DOID:1602 ! lymphadenitis is_a: DOID:225 ! syndrome is_a: DOID:865 ! vasculitis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:1338 name: congenital dyserythropoietic anemia def: "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (DO)" [http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia "DO", http://www.ncbi.nlm.nih.gov/books/NBK5313/ "DO"] synonym: "Congenital Dyserythropoietic Anemias" EXACT [] synonym: "congenital dyshaematopoietic anaemia" EXACT [] synonym: "syndromic congenital hemolytic and dyserythropoietic anemia" BROAD [] xref: GARD:1999 xref: ICD10CM:D64.4 xref: MESH:D000742 xref: MIM:PS224120 xref: NCI:C84646 xref: ORDO:85 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:13381 name: pernicious anemia def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. (DO)" [https://medlineplus.gov/ency/article/000569.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/ "DO"] synonym: "Addison's anaemia" EXACT [] synonym: "Addison's anemia" EXACT [] synonym: "Addison anemia" EXACT [] synonym: "Addisons anemia" EXACT [] synonym: "Biermer's anaemia" EXACT [] synonym: "Biermer's anemia" EXACT [] synonym: "pernicious anaemia" EXACT [] xref: EFO:0005576 xref: GARD:12671 xref: ICD10CM:D51.0 xref: ICD9CM:281.0 xref: MESH:D000752 xref: MIM:170900 xref: MONDO:0008228 xref: NCI:C2871 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:13382 ! megaloblastic anemia [Term] id: DOID:13382 name: megaloblastic anemia def: "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. (DO)" [http://en.wikipedia.org/wiki/Megaloblastic_anemia "DO"] synonym: "megaloblastic anaemia" EXACT [] synonym: "MEGALOBLASTIC ANEMIA DUE TO INBORN ERRORS OF METABOLISM" NARROW [] synonym: "megaloblastic anemias" EXACT [] synonym: "recessive hereditary megaloblastic anaemia 1" EXACT [] xref: ICD10CM:D53.1 xref: MESH:D000749 xref: NCI:C34382 is_a: DOID:2361 ! macrocytic anemia [Term] id: DOID:13386 name: gastrointestinal anthrax def: "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, 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)" [http://www.springerlink.com/content/g3575hwr232l4411/ "DO", https://en.wikipedia.org/wiki/Anthrax#Gastrointestinal "DO"] xref: ICD10CM:A22.2 xref: ICD9CM:022.2 xref: MESH:C571911 is_a: DOID:7427 ! anthrax disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:13389 name: labia majora carcinoma def: "A vulva carcinoma that is located_in the labia majora. (DO)" [PMID:27917514 "DO"] synonym: "carcinoma of labia majora" EXACT [] synonym: "labia majora cancer" EXACT [] xref: NCI:C9363 is_a: DOID:11905 ! labium majus cancer is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:1339 name: Diamond-Blackfan anemia def: "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)" [http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia "DO", http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia "DO", http://www.cdc.gov/ncbddd/dba/ "DO", http://www.omim.org/entry/105650 "DO"] synonym: "Aase syndrome" EXACT [] synonym: "BDS" EXACT [] synonym: "Blackfan Diamond disease" EXACT [] synonym: "Blackfan Diamond syndrome" EXACT [] synonym: "chronic congenital agenerative anemia" EXACT [] synonym: "chronic congenital aregenerative anemia" EXACT [] synonym: "chronic constitutional pure red cell anaemia" EXACT [] synonym: "congenital erythroid hypoplastic anemia" EXACT [] synonym: "congenital hypoplastic anemia of Blackfan and Diamond" EXACT [] synonym: "congenital pure red cell anemia" EXACT [] synonym: "congenital pure red cell aplasia" EXACT [] synonym: "DBA" EXACT [] synonym: "Diamond-Blackfan type anemia" EXACT [] synonym: "erythrogenesis imperfecta" EXACT [] synonym: "erythrogenesis imperfectas" EXACT [] synonym: "inherited erythroblastopenia" EXACT [] synonym: "pure hereditary red cell aplasia" EXACT [] xref: EFO:0004130 xref: GARD:6274 xref: MESH:D029503 xref: MIM:PS105650 xref: MONDO:0015253 xref: NCI:C61236 xref: ORDO:124 is_a: DOID:1340 ! pure red-cell aplasia [Term] id: DOID:13399 name: color blindness def: "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. (DO)" [http://en.wikipedia.org/wiki/Color_blindness "DO"] synonym: "color vision defect" EXACT [] synonym: "color vision defects" EXACT [] synonym: "color vision deficiency" EXACT [] synonym: "colour blindnes" EXACT [] synonym: "colour blindness" EXACT [] synonym: "colour vision deficiency" EXACT [] synonym: "green color blindness" EXACT [] synonym: "inherited color blindness" EXACT [] synonym: "monochromatopsia" EXACT [] xref: ICD10CM:H53.5 xref: ICD9CM:368.5 xref: MESH:D003117 xref: NCI:C3891 is_a: DOID:1432 ! blindness [Term] id: DOID:134 name: vaginal glandular tumor def: "A vaginal cancer that has_material_basis_in glandular tissue. (DO)" [https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447 "DO"] xref: MONDO:0001704 xref: NCI:C40250 is_a: DOID:119 ! vaginal cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1340 name: pure red-cell aplasia def: "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/ "DO"] synonym: "erythrocyte aplasia" EXACT [] synonym: "erythrocyte aplasias" EXACT [] synonym: "primary red cell aplasia" EXACT [] synonym: "red cell hypoplasia" EXACT [] xref: GARD:7504 xref: MESH:D012010 xref: MONDO:0001705 xref: NCI:C34974 is_a: DOID:1342 ! congenital hypoplastic anemia [Term] id: DOID:13401 name: angioid streaks alt_id: MIM:607140 def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793] synonym: "Angioid Streak" EXACT [] xref: EFO:1000805 xref: MESH:D000793 is_a: DOID:5679 ! retinal disease [Term] id: DOID:13402 name: skin sarcoidosis synonym: "cutaneous sarcoid" EXACT [] synonym: "cutaneous sarcoidosis" EXACT [] xref: EFO:1000767 xref: ICD10CM:D86.3 xref: MONDO:0006611 xref: NCI:C34996 is_a: DOID:11335 ! sarcoidosis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13403 name: neurosarcoidosis def: "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/ "DO"] synonym: "cerebral sarcoidosis" EXACT [] synonym: "nervous system sarcoidosis" EXACT [] xref: MESH:C535814 xref: NCI:C35441 is_a: DOID:11335 ! sarcoidosis is_a: DOID:331 ! central nervous system disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13404 name: uveoparotid fever def: "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/ "DO"] synonym: "Heerfordt's syndrome" EXACT [] synonym: "Heerfordt syndrome" EXACT [] synonym: "uveoparotid fevers" EXACT [] synonym: "uveoparotitis" EXACT [] xref: EFO:1001232 xref: ICD10CM:D86.89 xref: MESH:D014608 xref: MONDO:0007011 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:13405 name: cardiac sarcoidosis def: "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/ "DO"] xref: NCI:C35589 is_a: DOID:11335 ! sarcoidosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13406 name: pulmonary sarcoidosis def: "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. (DO)" [https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI "DO"] synonym: "lung sarcoidosis" EXACT [] xref: ICD10CM:D86.0 xref: MESH:D017565 xref: MONDO:0001708 xref: NCI:C34997 is_a: DOID:11335 ! sarcoidosis is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:13407 name: hypercalcemic sarcoidosis xref: MONDO:0001709 xref: NCI:C35807 is_a: DOID:11335 ! sarcoidosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13409 name: perforation of bile duct synonym: "bile duct perforation" EXACT [] xref: ICD10CM:K83.2 xref: ICD9CM:576.3 xref: NCI:C143742 xref: NCI:C78528 is_a: DOID:4138 ! bile duct disease is_a: DOID:9741 ! biliary tract disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13413 name: hepatic encephalopathy def: "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)" [https://en.wikipedia.org/wiki/Hepatic_encephalopathy "DO"] synonym: "Fulminant Hepatic Failure with Cerebral Edema" EXACT [] synonym: "hepatic encephalopathies" EXACT [] synonym: "Hepatic Stupor" EXACT [] synonym: "Hepatic Stupors" EXACT [] synonym: "Hepatocerebral Encephalopathies" EXACT [] synonym: "Hepatocerebral Encephalopathy" EXACT [] synonym: "Portal-Systemic Encephalopathies" EXACT [] synonym: "Portal Systemic Encephalopathy" EXACT [] synonym: "Portosystemic Encephalopathies" EXACT [] synonym: "portosystemic encephalopathy" EXACT [] xref: GARD:10452 xref: ICD10CM:K72 xref: ICD10CM:K76.82 xref: ICD9CM:572.2 xref: MESH:D006501 xref: NCI:C79596 is_a: DOID:225 ! syndrome is_a: DOID:9005627 ! Metabolic Brain Diseases is_a: DOID:9007874 ! Liver Failure is_a: DOID:936 ! brain disease [Term] id: DOID:13417 name: alexia def: "An agnosia that is a loss of the ability to recognize text. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO", http://en.wikipedia.org/wiki/Alexia_%28disorder%29 "DO"] synonym: "acquired alexia" EXACT [] synonym: "acquired dyslexia" EXACT [] synonym: "acquired global dyslexia" EXACT [] synonym: "acquired reading disabilities" EXACT [] synonym: "Acquired Reading Disability" EXACT [] synonym: "acquired spelling dyslexia" EXACT [] synonym: "acquired word blindness" EXACT [] synonym: "aphemesthaesia" EXACT [] xref: ICD9CM:315.01 xref: MESH:D004411 is_a: DOID:1561 ! cognitive disorder is_a: DOID:4090 ! agnosia is_a: DOID:4428 ! dyslexia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13419 name: neurogenic bowel def: "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." [MESH:D055496] synonym: "Neurogenic Bowels" EXACT [] xref: EFO:1001061 xref: ICD9CM:564.81 xref: MESH:D055496 is_a: DOID:3877 ! functional colonic disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1342 name: congenital hypoplastic anemia def: "An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. (DO)" [https://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia "DO"] synonym: "congenital aplastic anaemia" EXACT [] synonym: "congenital aplastic anemia" EXACT [] synonym: "congenital hypoplastic anaemia" EXACT [] synonym: "congenital hypoplastic anemias" EXACT [] synonym: "constitutional aplastic anaemia" RELATED [] xref: ICD10CM:D61.0 xref: ICD10CM:D61.01 xref: ICD9CM:284.0 xref: MESH:D029502 xref: MONDO:0001713 is_a: DOID:0080015 ! physical disorder is_a: DOID:12449 ! aplastic anemia [Term] id: DOID:1343 name: urethritis def: "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." [MESH:D014526] synonym: "non-gonococcal urethritis" EXACT [] synonym: "nongonococcal urethritis" EXACT [] xref: EFO:0003878 xref: ICD10CM:N34.2 xref: ICD9CM:597.80 xref: MESH:D014526 xref: MONDO:0005297 xref: NCI:C26904 is_a: DOID:732 ! urethral disease [Term] id: DOID:13431 name: bejel def: "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. (DO)" [http://en.wikipedia.org/wiki/Bejel "DO", http://www.merckmanuals.com/home/sec17/ch190/ch190d.html "DO"] synonym: "dichuchwa" EXACT [] synonym: "frenga" EXACT [] synonym: "njovera" EXACT [] synonym: "nonvenereal endemic syphilis" EXACT [] synonym: "nonvenereal syphilis" EXACT [] xref: GARD:5905 xref: MESH:C538405 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:0080001 ! bone disease is_a: DOID:3488 ! cellulitis is_a: DOID:403 ! mouth disease is_a: DOID:9000746 ! Treponemal Infections [Term] id: DOID:13444 name: glanders def: "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. (DO)" [http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ "DO"] synonym: "Farcy pipes" EXACT [SNOMEDCT_2005_07_31:35322000] synonym: "infection due to Pseudomonas mallei" EXACT [] xref: EFO:0007286 xref: GARD:9536 xref: ICD10CM:A24.0 xref: ICD9CM:024 xref: MESH:D005896 xref: MONDO:0005774 xref: NCI:C34638 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9000739 ! Burkholderia Infections is_a: DOID:9001187 ! Horse Diseases [Term] id: DOID:13446 name: basilar artery occlusion xref: ICD10CM:I65.1 xref: ICD9CM:433.0 xref: MONDO:0001715 is_a: DOID:0050828 ! artery disease is_a: DOID:5976 ! occlusion precerebral artery created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:13447 name: corneal argyrosis synonym: "argentous corneal deposits" EXACT [] synonym: "argyrosis of cornea" EXACT [] xref: ICD10CM:H18.02 xref: ICD9CM:371.16 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13448 name: posterior corneal pigmentation synonym: "Posterior corneal pigmentations" EXACT [ICD9CM_2006:371.13] xref: ICD10CM:H18.05 xref: ICD9CM:371.13 xref: RDO:9003425 is_a: DOID:11547 ! corneal deposit created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13450 name: coccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197e.html "DO"] synonym: "Coccidioides immitis Infection" EXACT [] synonym: "Coccidioides immitis infections" EXACT [] synonym: "Coccidioidomycoses" EXACT [] synonym: "primary extrapulmonary coccidioidomycosis" EXACT [] synonym: "San Joaquin Valley Fever" EXACT [] synonym: "Valley Fever" EXACT [] synonym: "valley fevers" EXACT [] xref: EFO:0007211 xref: GARD:9525 xref: ICD10CM:B38 xref: ICD9CM:114 xref: MESH:D003047 xref: NCI:C84642 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:13452 name: scleritis def: "Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva." [MESH:D015423] synonym: "episcleritis" EXACT [] synonym: "necrotizing scleritis" EXACT [] xref: GARD:12911 xref: ICD10CM:H15.0 xref: ICD9CM:379.00 xref: MESH:D015423 xref: MONDO:0001718 xref: NCI:C119046 is_a: DOID:11343 ! scleral disease [Term] id: DOID:13453 name: gonococcal bursitis def: "A bursitis that is characterized by an inflammation of a bursa caused by the Neisseria gonorrhoeae bacteria, resulting from gonorrhea that has spread to other parts of the body. (DO)" [https://gesund.bund.de/en/icd-code-search/m73-00 "DO"] xref: ICD10CM:A54.49 xref: ICD9CM:098.52 is_a: DOID:2965 ! bursitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13454 name: gonococcal synovitis synonym: "gonococcal synovitis and tenosynovitis" EXACT [] synonym: "gonococcal synovitis or tenosynovitis" EXACT [] xref: ICD9CM:098.51 is_a: DOID:2703 ! synovitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13461 name: urethral intrinsic sphincter deficiency synonym: "intrinsic (urethral) sphincter deficiency [ISD]" EXACT [] xref: ICD10CM:N36.42 xref: ICD9CM:599.82 is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:13473 name: central pterygium def: "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"] xref: ICD10CM:H11.02 xref: ICD9CM:372.43 is_a: DOID:13474 ! progressive peripheral pterygium created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13474 name: progressive peripheral pterygium def: "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"] xref: ICD9CM:372.42 is_a: DOID:10526 ! conjunctival pterygium created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13476 name: supraglottis cancer synonym: "Ca larynx - supraglottis" EXACT [] synonym: "malignant neoplasm of extrinsic larynx" EXACT [MTHICD9_2006:161.1] synonym: "malignant neoplasm of supraglottis" EXACT [] synonym: "malignant Supraglottic tumor" EXACT [NCI2004_11_17:C3545] synonym: "malignant tumor of supraglottis" EXACT [SNOMEDCT_2005_07_31:187842004] synonym: "supraglottis" EXACT [NCI2004_11_17:C12279] xref: ICD10CM:C32.1 xref: ICD9CM:161.1 xref: NCI:C3545 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:13477 name: balanitis xerotica obliterans def: "A balantitis characterized by white plaques or patches on genitals. (DO)" [PMID:24295833 "DO"] synonym: "Kraurosis Penis" EXACT [] synonym: "penile lichen sclerosus" EXACT [] xref: ICD9CM:607.81 xref: MESH:D052798 xref: NCI:C3523 is_a: DOID:13033 ! balanitis [Term] id: DOID:13481 name: thanatophoric dysplasia def: "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (DO)" [http://en.wikipedia.org/wiki/Thanatophoric_dysplasia "DO", http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia "DO"] synonym: "Thanatophoric Dwarfism" EXACT [] synonym: "Thanatophoric Dwarfisms" EXACT [] synonym: "thanatophoric dysplasias" EXACT [] synonym: "thanatophoric short stature" EXACT [] xref: GARD:85 xref: ICD10CM:Q77.1 xref: MESH:D013796 xref: NCI:C85187 xref: ORDO:1860 xref: ORDO:2655 xref: ORDO:93274 xref: ORDO:93275 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4480 ! achondroplasia is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:13482 name: Proteus syndrome def: "A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis. (DO)" [https://ghr.nlm.nih.gov/condition/proteus-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK99495/ "DO", PMID:23992099 "DO"] synonym: "ELATTOPROTEUS SYNDROME" NARROW [] synonym: "Elephant Man Disease" EXACT [] synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly" EXACT [] synonym: "Proteus like syndrome" EXACT [] synonym: "Wiedemann's syndrome" RELATED [] xref: GARD:7475 xref: MESH:D016715 xref: MIM:176920 xref: NCI:C85032 xref: ORDO:744 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:13487 name: childhood disintegrative disease def: "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. (DO)" [http://en.wikipedia.org/wiki/Heller%27s_syndrome "DO", http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm "DO"] synonym: "disintegrative psychosis" EXACT [] synonym: "Heller's syndrome" EXACT [] synonym: "symbiotic psychosis" EXACT [] xref: GARD:6040 xref: ICD10CM:F84.3 xref: ICD9CM:299.1 xref: NCI:C97164 is_a: DOID:0060040 ! pervasive developmental disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13490 name: active cochleovestibular Meniere's disease synonym: "active cochleovestibular Meniere disease" EXACT [] synonym: "cochleovestibular active Mnire's disease" EXACT [] xref: ICD9CM:386.01 is_a: DOID:9849 ! Meniere's disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13491 name: active vestibular Meniere's disease synonym: "active vestibular Meniere disease" EXACT [] synonym: "vestibular active Mnire's disease" EXACT [] xref: ICD9CM:386.03 xref: MONDO:0001728 is_a: DOID:9849 ! Meniere's disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13492 name: active cochlear Meniere's disease synonym: "active cochlear Meniere disease" EXACT [] synonym: "cochlear active Mnire's disease" EXACT [] xref: ICD9CM:386.02 is_a: DOID:9849 ! Meniere's disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13498 name: urethral syndrome xref: ICD10CM:N34.3 xref: ICD9CM:597.81 is_a: DOID:225 ! syndrome is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:13499 name: jejunal cancer synonym: "cancer of jejunum" EXACT [] synonym: "cancer of the jejunum" EXACT [] synonym: "jejunal cancers" EXACT [] synonym: "jejunum cancer" EXACT [] synonym: "jejunum cancers" EXACT [] synonym: "malignant neoplasm of jejunum" EXACT [] synonym: "malignant tumor of jejunum" EXACT [] xref: EFO:1000998 xref: ICD10CM:C17.1 xref: ICD9CM:152.1 xref: MONDO:0006815 xref: NCI:C170919 is_a: DOID:10154 ! small intestine cancer is_a: DOID:3218 ! jejunal neoplasm [Term] id: DOID:135 name: benign vaginal carcinosarcoma def: "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 "DO"] xref: NCI:C40275 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:1350 name: paranasal sinus benign neoplasm synonym: "Paranasal Sinus Papilloma" NARROW [] synonym: "Paranasal Sinus Schneiderian Papilloma" NARROW [] xref: EFO:0003866 xref: EFO:1000455 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:9000118 ! Paranasal Sinus Neoplasms [Term] id: DOID:13500 name: hairy tongue def: "A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" [MESH:D014064] synonym: "hairy tongues" EXACT [] synonym: "overgrowth of filiform papillae" EXACT [] xref: EFO:1000957 xref: MESH:D014064 xref: NCI:C35075 is_a: DOID:10944 ! tongue disease [Term] id: DOID:13501 name: Moebius syndrome def: "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC4082742/ "DO", PMID:33474647 "DO"] synonym: "congenital ophthalmoplegia and facial paresis" EXACT [] synonym: "MBS" EXACT [] synonym: "Mobius syndrome" EXACT [] synonym: "Mobius syndromes" EXACT [] synonym: "Moebius congenital oculofacial paralysis" EXACT [] synonym: "Moebius sequence" EXACT [] synonym: "Moebius spectrum" EXACT [] synonym: "Moebius syndrome 1" EXACT [] synonym: "Moebius syndromes" EXACT [] synonym: "Möbius sequence" EXACT [] synonym: "oromandibular-limb hypogenesis spectrum" EXACT [] xref: GARD:8549 xref: MESH:C535807 xref: MESH:D020331 xref: MIM:157900 xref: MONDO:0008006 xref: NCI:C84893 xref: ORDO:570 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1756 ! facial nerve disease is_a: DOID:225 ! syndrome is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:13507 name: trigonitis xref: ICD10CM:N30.3 xref: ICD9CM:595.3 xref: NCI:C123175 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13514 name: venous tributary occlusion of retina def: "An obstruction occurring within any of the branches of the central retinal vein." [] synonym: "Branch retinal occlusion" EXACT [] synonym: "Branch Retinal Vein Occlusion" EXACT [] synonym: "Branch retinal vein thrombosis" EXACT [] synonym: "BRVO" EXACT [] synonym: "BRVT" EXACT [] synonym: "BVO" EXACT [] synonym: "Venous retinal branch occlusion" EXACT [] synonym: "Venous retinal tributary occlusion" EXACT [] synonym: "venous tributary branch occlusion of retina" EXACT [] xref: ICD9CM:362.36 xref: RDO:9000120 is_a: DOID:1727 ! retinal vein occlusion is_a: DOID:1729 ! retinal vascular occlusion [Term] id: DOID:13515 name: tuberous sclerosis def: "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)" [https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms "DO"] synonym: "adenoma sebaceum" EXACT [] synonym: "Bourneville's Disease" EXACT [] synonym: "Bourneville's Syndrome" EXACT [] synonym: "Bourneville disease" EXACT [] synonym: "Bourneville phacomatosis" EXACT [] synonym: "Bourneville phakomatosis" EXACT [] synonym: "Bourneville Pringle's Disease" EXACT [] synonym: "Bourneville Pringle Disease" EXACT [] synonym: "Bourneville-Pringles Disease" EXACT [] synonym: "Bourneville Syndrome" EXACT [] synonym: "cerebral sclerosis" EXACT [] synonym: "CORTICAL TUBERS" NARROW [] synonym: "epiloia" EXACT [] synonym: "sclerosis tuberosa" EXACT [] synonym: "TS" EXACT [] synonym: "TSC" EXACT [] synonym: "tuberose sclerosis" EXACT [] synonym: "tuberous sclerosis complex" EXACT [] synonym: "tuberous sclerosis syndrome" EXACT [] xref: GARD:7830 xref: ICD10CM:Q85.1 xref: ICD9CM:759.5 xref: MESH:D014402 xref: MIM:PS191100 xref: MONDO:0001734 xref: NCI:C3424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070656 ! hamartoma syndrome is_a: DOID:9001030 ! Multiple Primary Neoplasms is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9005611 ! Malformations of Cortical Development, Group I is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:1352 name: paranasal sinus disease alt_id: RDO:0006284 def: "Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors." [MESH:D010254] synonym: "disorder of nasal sinus" EXACT [] synonym: "paranasal sinus diseases" EXACT [] xref: EFO:0009481 xref: MESH:D010254 xref: NCI:C26843 is_a: DOID:2825 ! nose disease [Term] id: DOID:13520 name: neonatal infective mastitis xref: ICD10CM:P39.0 xref: ICD9CM:771.5 is_a: DOID:10690 ! mastitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13521 name: tetanus neonatorum def: "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. (DO)" [https://en.wikipedia.org/wiki/Neonatal_tetanus "DO"] synonym: "neonatal tetanus" EXACT [] xref: ICD10CM:A33 xref: ICD9CM:771.3 xref: NCI:C116814 is_a: DOID:11338 ! tetanus [Term] id: DOID:13523 name: loiasis def: "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. (DO)" [http://en.wikipedia.org/wiki/Loiasis "DO"] synonym: "loaiases" EXACT [] synonym: "loaiasis" EXACT [] synonym: "loiases" EXACT [] xref: EFO:1000729 xref: GARD:3283 xref: ICD10CM:B74.3 xref: ICD9CM:125.2 xref: MESH:D008118 xref: NCI:C34784 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:13533 name: osteopetrosis def: "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (DO)" [http://en.wikipedia.org/wiki/Osteopetrosis "DO"] synonym: "Albers Schoenberg disease" EXACT [] synonym: "Albers Schonberg Disease" EXACT [] synonym: "Albers Schonberg disease, autosomal dominant" NARROW [] synonym: "Albers Schönberg disease" EXACT [] synonym: "Congenital Osteopetrosis" EXACT [] synonym: "High Bone Mass" RELATED [] synonym: "INFANTILE OSTEOPETROSIS" NARROW [] synonym: "marble bone" EXACT [] synonym: "Marble Bone Disease" EXACT [] synonym: "Marble Bones, Autosomal Dominant" EXACT [] synonym: "osteopetroses" EXACT [] synonym: "osteosclerosis fragilis" EXACT [] synonym: "osteosclerosis fragilis generalisata" EXACT [] xref: GARD:4155 xref: ICD10CM:Q78.2 xref: ICD9CM:756.52 xref: MESH:D010022 xref: MIM:PS259700 xref: MIM:PS607634 xref: NCI:C26840 xref: ORDO:667 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:13534 name: purulent labyrinthitis def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. (DO)" [http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh "DO"] synonym: "acute suppurative labyrinthitis" RELATED [] synonym: "bacterial labyrinthitis" EXACT [] synonym: "suppurative labyrinthitis" EXACT [] xref: ICD9CM:386.33 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1468 ! labyrinthitis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13538 name: cornea squamous cell carcinoma synonym: "corneal epidermoid carcinoma" EXACT [] synonym: "squamous cell carcinoma of cornea" EXACT [] xref: NCI:C4552 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:6199 ! cornea cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13543 name: hyperparathyroidism def: "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (DO)" [http://en.wikipedia.org/wiki/Hyperparathyroidism "DO", http://ghr.nlm.nih.gov/glossary=hyperparathyroidism "DO"] xref: EFO:0008506 xref: ICD10CM:E21.3 xref: ICD9CM:252.0 xref: MESH:D006961 xref: MIM:PS145000 xref: NCI:C48259 is_a: DOID:11201 ! parathyroid gland disease [Term] id: DOID:13544 name: low tension glaucoma def: "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. (DO)" [https://eyewiki.aao.org/Primary_Open-Angle_Glaucoma "DO"] synonym: "low tension glaucomas" EXACT [] xref: EFO:1001022 xref: ICD10CM:H40.12 xref: ICD9CM:365.12 xref: MESH:D057066 xref: MONDO:0006837 is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:13548 name: secondary Parkinson disease def: "Conditions which feature clinical manifestations resembling primary Parkinson's disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" [MESH:D010302] synonym: "atherosclerotic parkinsonism" EXACT [] synonym: "disorder presenting primarily with parkinsonism" EXACT [] synonym: "secondary Parkinson's disease" EXACT [] synonym: "secondary parkinsonism" EXACT [] synonym: "Secondary Vascular Parkinson's Disease" EXACT [] synonym: "Secondary Vascular Parkinson Disease" EXACT [] synonym: "symptomatic Parkinson's disease" EXACT [] synonym: "Symptomatic Parkinson Disease" EXACT [] synonym: "symptomatic parkinsonism" EXACT [] xref: EFO:1001175 xref: ICD10CM:G21 xref: ICD9CM:332.1 xref: MESH:D010302 xref: NCI:C34899 is_a: DOID:0080855 ! Parkinsonism is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:13549 name: interval angle-closure glaucoma def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO", https://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma "DO"] synonym: "intermittent angle-closure glaucoma" EXACT [] synonym: "prodromal angle closure glaucoma" EXACT [] synonym: "subacute angle-closure glaucoma" EXACT [] xref: ICD10CM:H40.23 xref: ICD9CM:365.21 is_a: DOID:1405 ! primary angle-closure glaucoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1355 name: paranasal sinus lymphoma synonym: "lymphoma of accessory sinus" EXACT [] synonym: "lymphoma of paranasal sinus" EXACT [] xref: MONDO:0001743 xref: NCI:C6068 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13550 name: angle-closure glaucoma def: "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"] synonym: "ACG - angle-closure glaucoma" EXACT [] synonym: "angle closure glaucomas" EXACT [] synonym: "closed-angle glaucoma" EXACT [] synonym: "Narrow-Angle Glaucoma" EXACT [] synonym: "Narrow-Angle Glaucomas" EXACT [] synonym: "narrow cleft glaucoma" EXACT [] synonym: "primary open-angle glaucoma with narrow angles" EXACT [] synonym: "Uncompensated Glaucoma" EXACT [] synonym: "uncompensative glaucoma" EXACT [] xref: MESH:D015812 xref: MONDO:0001744 xref: NCI:C34639 is_a: DOID:1686 ! glaucoma [Term] id: DOID:13560 name: subserous uterine fibroid def: "An uterine fibroid that is located adjacent to the outside of the uterus. (DO)" [PMID:22583728 "DO"] synonym: "subserous leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.2 xref: ICD9CM:218.2 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13561 name: optic disk drusen def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594] synonym: "Drusen of optic disc" EXACT [ICD9CM_2006:377.21] synonym: "Optic Disc Drusen" EXACT [] synonym: "Optic Disc Drusens" EXACT [] synonym: "Optic Disk Drusens" EXACT [] synonym: "Optic Nerve Drusen" EXACT [] synonym: "optic nerve head drusen" EXACT [SNOMEDCT_2005_07_31:33629003] xref: ICD10CM:H47.32 xref: ICD9CM:377.21 xref: MESH:D015594 xref: RDO:0006905 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:13564 name: aspergillosis def: "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. (DO)" [http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all "DO"] synonym: "aspergilloses" EXACT [] synonym: "ASPERGILLOSIS, SUSCEPTIBILITY TO" RELATED [] synonym: "CLEC7A-RELATED CONDITION" RELATED [] synonym: "infection due to Aspergillus" EXACT [] xref: EFO:0007157 xref: GARD:5856 xref: ICD10CM:B44 xref: ICD9CM:117.3 xref: MESH:D001228 xref: MIM:614079 xref: MONDO:0005657 xref: NCI:C2886 is_a: DOID:1205 ! allergic disease is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:9005724 ! Fungal Lung Diseases is_a: DOID:9007316 ! Hyalohyphomycosis [Term] id: DOID:13565 name: neuroaspergillosis def: "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. (DO)" [https://www.merriam-webster.com/dictionary/aspergillosis#medicalDictionary "DO", PMID:17377359 "DO"] synonym: "nervous system invasive aspergillosis" EXACT [] synonym: "neuroaspergilloses" EXACT [] xref: EFO:0007393 xref: MESH:D020953 is_a: DOID:13564 ! aspergillosis is_a: DOID:9001177 ! Central Nervous System Fungal Infections is_a: DOID:9006058 ! Invasive Fungal Infections [Term] id: DOID:13566 name: tibial collateral ligament bursitis xref: ICD9CM:726.62 xref: MONDO:0001747 is_a: DOID:204 ! enthesopathy created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:1357 name: maxillary sinus cancer def: "malignant tumor of the maxillary sinus" [] synonym: "cancer of maxillary sinus" EXACT [] synonym: "malignant neoplasm of antrum" EXACT [] synonym: "malignant tumor of the maxillary sinus" EXACT [] xref: ICD10CM:C31.0 xref: ICD9CM:160.2 xref: NCI:C3540 xref: NCI:C9332 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:9001615 ! Maxillary Sinus Neoplasms [Term] id: DOID:13574 name: cortical senile cataract def: "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] xref: ICD9CM:366.15 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13575 name: non-renal secondary hyperparathyroidism xref: ICD9CM:252.02 is_a: DOID:12466 ! secondary hyperparathyroidism created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13576 name: twin-to-twin transfusion syndrome def: "A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. (DO)" [https://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK563133/ "DO"] synonym: "fetal blood loss from fetal hemorrhage into co-twin" EXACT [] synonym: "fetal hemorrhage into co-twin" EXACT [] synonym: "fetal transfusion syndrome" EXACT [] synonym: "fetofetal transfusion" EXACT [] synonym: "Fetofetal Transfusions" EXACT [] synonym: "Fetofetal Transfusion Syndrome" EXACT [] synonym: "Intrauterine Cross Transfusion" EXACT [] synonym: "Intrauterine Cross-Transfusions" EXACT [] synonym: "twin-to-twin blood transfer" EXACT [] synonym: "twin to twin transfusion" EXACT [] synonym: "Twin Transfusion" EXACT [] synonym: "twin transfusions" EXACT [] synonym: "twin transfusion syndrome" EXACT [] synonym: "twin transfusion syndromes" EXACT [] synonym: "twin twin transfusion syndrome" EXACT [] xref: EFO:1001221 xref: ICD10CM:O43.02 xref: ICD10CM:O43.029 xref: MESH:D005330 xref: MONDO:0019805 xref: NCI:C113824 is_a: DOID:11244 ! neonatal anemia [Term] id: DOID:13579 name: kwashiorkor def: "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK507876/ "DO"] synonym: "Kwashiokor" EXACT [] synonym: "Kwashiorkors" EXACT [] synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [] synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT [] xref: EFO:1001009 xref: ICD10CM:E40 xref: ICD9CM:260 xref: MESH:D007732 is_a: DOID:11801 ! protein-energy malnutrition is_a: DOID:225 ! syndrome is_a: DOID:9004851 ! Severe Acute Malnutrition [Term] id: DOID:1358 name: maxillary sinus benign neoplasm xref: MONDO:0021484 is_a: DOID:1350 ! paranasal sinus benign neoplasm is_a: DOID:9001615 ! Maxillary Sinus Neoplasms [Term] id: DOID:13580 name: cholestasis def: "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. (DO)" [https://en.wikipedia.org/wiki/Cholestasis "DO"] synonym: "bile duct obstruction" EXACT [] synonym: "bile duct obstructions" EXACT [] synonym: "bile occlusion" EXACT [] synonym: "Biliary Stases" EXACT [] synonym: "biliary stasis" EXACT [] synonym: "cholestases" EXACT [] synonym: "obstruction of bile duct" EXACT [] xref: ICD10CM:K83.1 xref: ICD9CM:576.2 xref: MESH:D002779 xref: NCI:C83006 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:13585 name: alveolar periostitis def: "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" [MESH:D004368] synonym: "Alveolalgia" EXACT [] synonym: "Alveolar Osteitis" EXACT [] synonym: "Alveolitis of jaw" EXACT [] synonym: "Alveolitis Sicca Dolorosa" EXACT [] synonym: "Dry Socket" EXACT [] synonym: "Dry tooth socket" EXACT [] xref: ICD10CM:M27.3 xref: ICD9CM:526.5 xref: MESH:D004368 xref: MONDO:0001752 is_a: DOID:403 ! mouth disease is_a: DOID:9957 ! periostitis [Term] id: DOID:13589 name: female infertility of uterine origin def: "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. (DO)" [https://en.wikipedia.org/wiki/Female_infertility "DO"] xref: ICD10CM:N97.2 xref: ICD9CM:628.3 is_a: DOID:345 ! uterine disease is_a: DOID:9007456 ! Female Infertility created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13593 name: eclampsia def: "A pre-eclampsia characterized by the presence of seizures. (DO)" [http://ghr.nlm.nih.gov/condition/preeclampsia "DO", PMID:24400024 "DO"] synonym: "eclampsia in puerperium" EXACT [] synonym: "eclampsias" EXACT [] synonym: "postpartum eclampsia" EXACT [] xref: GARD:6316 xref: ICD10CM:O15 xref: ICD10CM:O15.9 xref: MESH:D004461 xref: NCI:C87167 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:136 name: vaginal carcinosarcoma def: "A vaginal carcinoma that has_material_basis_in connective tissue. (DO)" [PMID:12588439 "DO"] synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [] synonym: "vaginal malignant mixed mesodermal (mullerian) tumor" EXACT [] synonym: "vaginal malignant mixed Mullerian tumor" EXACT [] synonym: "vaginal mixed epithelial and mesenchymal tumor" EXACT [] xref: EFO:1000618 xref: NCI:C40274 xref: NCI:C40276 xref: NCI:C40278 is_a: DOID:0050918 ! vaginal carcinoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1360 name: frontal sinus cancer synonym: "malignant neoplasm of frontal sinus" EXACT [] synonym: "malignant tumor of frontal sinus" EXACT [] synonym: "malignant tumor of the frontal sinus" EXACT [] xref: ICD10CM:C31.2 xref: ICD9CM:160.4 xref: NCI:C3542 xref: RDO:9002359 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:9006040 ! Sinonasal Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13603 name: obstructive jaundice def: "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. (DO)" [https://en.wikipedia.org/wiki/Jaundice "DO"] synonym: "cholestatic jaundice" EXACT [] synonym: "cholestatic jaundice syndrome" EXACT [] synonym: "mechanical jaundice" EXACT [] synonym: "obstructive hyperbilirubinemia" EXACT [] xref: EFO:1001068 xref: MESH:D041781 xref: MONDO:0006874 xref: NCI:C34742 is_a: DOID:13580 ! cholestasis is_a: DOID:9004898 ! Jaundice [Term] id: DOID:13608 name: biliary atresia def: "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Biliary_atresia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm "DO"] synonym: "atresia of bile duct" EXACT [] synonym: "congenital biliary atresia" EXACT [] synonym: "extrahepatic biliary atresia" EXACT [] synonym: "Familial Extrahepatic Biliary Atresia" EXACT [] synonym: "idiopathic extrahepatic biliary atresia" EXACT [] xref: GARD:12010 xref: ICD10CM:Q44.2 xref: ICD9CM:751.61 xref: MESH:D001656 xref: MIM:210500 xref: MONDO:0008867 xref: NCI:C34421 xref: ORDO:30391 is_a: DOID:13580 ! cholestasis is_a: DOID:4138 ! bile duct disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:1361 name: frontal sinus benign neoplasm synonym: "neoplasm of frontal sinus" EXACT [] synonym: "tumor of the frontal sinus" EXACT [] xref: NCI:C4419 is_a: DOID:1350 ! paranasal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13619 name: extrahepatic cholestasis def: "A cholestasis resulting from causes located_in bile ducts outside the liver. (DO)" [https://medlineplus.gov/ency/article/000215.htm "DO"] synonym: "extrahepatic bile duct obstruction" EXACT [] synonym: "extrahepatic biliary stasis" EXACT [] synonym: "extrahepatic obstructive biliary disease" EXACT [] xref: EFO:1000933 xref: MESH:D001651 xref: MONDO:0006757 xref: NCI:C34420 is_a: DOID:13580 ! cholestasis [Term] id: DOID:1362 name: paranasal sinus sarcoma def: "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient "DO"] synonym: "sarcoma of accessory sinus" EXACT [] xref: NCI:C6849 xref: RDO:9003607 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13620 name: patent foramen ovale def: "A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance." [MESH:D054092] synonym: "Atrial septal defect within oval fossa" EXACT [SNOMEDCT_2005_07_31:204315000] synonym: "Defect, Patent or persistent, ostium secundum" EXACT [MTHICD9_2006:745.5] synonym: "Ostium secundum type atrial septal defect" EXACT [] synonym: "Patent Oval Foramen" EXACT [] synonym: "Persistent ostium secundum" EXACT [SNOMEDCT_2005_07_31:204318003] xref: ICD10CM:Q21.12 xref: MESH:D054092 xref: NCI:C34619 xref: RDO:0007657 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:13622 name: campylobacteriosis def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. (DO)" [http://en.wikipedia.org/wiki/Campylobacteriosis "DO", https://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm "DO"] synonym: "Campylobacter Infection" EXACT [] synonym: "Campylobacter Infections" EXACT [] xref: EFO:0007190 xref: MESH:D002169 is_a: DOID:2326 ! gastroenteritis is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:13626 name: photokeratitis xref: ICD10CM:H16.13 xref: ICD9CM:370.24 xref: NCI:C118750 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13628 name: favism def: "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. (DO)" [http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency "DO"] synonym: "Favisms" EXACT [] synonym: "favism, susceptibility to" RELATED [] synonym: "G6PD a-" RELATED [] synonym: "G6PD Aures" RELATED [] synonym: "G6PD Gastonia" RELATED [] synonym: "G6PD Malaga" RELATED [] synonym: "G6PD Marion" RELATED [] synonym: "G6PD Mediterranean" RELATED [] synonym: "G6PD Minnesota" RELATED [] synonym: "G6PD Nara" RELATED [] synonym: "G6PD Santiago" RELATED [] synonym: "G6PD Santiago De Cuba" RELATED [] synonym: "G6PD Serres" RELATED [] synonym: "G6PD Sunderland" RELATED [] synonym: "nonspherocytic hemolytic anemia due to G6PD deficiency" EXACT [] xref: ICD10CM:D55.0 xref: MESH:C567533 xref: MESH:D005236 xref: MONDO:0010480 xref: NCI:C34607 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:2862 ! glucosephosphate dehydrogenase deficiency is_a: DOID:9003189 ! Plant Poisoning is_a: DOID:9006436 ! Foodborne Diseases [Term] id: DOID:13629 name: dentine erosion xref: ICD9CM:521.32 xref: MONDO:0001762 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:1363 name: ethmoid sinus cancer synonym: "malignant neoplasm of ethmoidal sinus" EXACT [] synonym: "malignant tumor of ethmoidal sinus" EXACT [NCI2004_11_17:C3541] synonym: "malignant tumor of ethmoid sinus" EXACT [SNOMEDCT_2005_07_31:363426009] xref: ICD10CM:C31.1 xref: ICD9CM:160.3 xref: NCI:C3541 xref: RDO:9002361 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:1364 ! ethmoidal sinus benign neoplasm [Term] id: DOID:13636 name: Fanconi anemia def: "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)" [http://en.wikipedia.org/wiki/Fanconi_anemia "DO", http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO"] synonym: "Fanconi's anaemia" EXACT [] synonym: "Fanconi's anemia" EXACT [] synonym: "Fanconi anaemia" EXACT [] synonym: "Fanconi anemias" EXACT [] synonym: "Fanconi Hypoplastic Anemia" EXACT [] synonym: "Fanconi pancytopenia" EXACT [] synonym: "Fanconi Panmyelopathy" EXACT [] xref: GARD:6425 xref: ICD10CM:D61.09 xref: MESH:D005199 xref: MIM:PS227650 xref: MONDO:0019391 xref: NCI:C62505 xref: ORDO:84 is_a: DOID:1342 ! congenital hypoplastic anemia is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:1364 name: ethmoidal sinus benign neoplasm synonym: "neoplasm of ethmoidal sinus" EXACT [] synonym: "tumor of ethmoidal sinus" EXACT [] xref: NCI:C4416 is_a: DOID:1350 ! paranasal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13641 name: exfoliation syndrome alt_id: MIM:177650 def: "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/ "DO"] synonym: "exfoliation glaucoma" EXACT [] synonym: "exfoliation syndromes" EXACT [] synonym: "exfoliation syndrome, susceptibility to" RELATED [] synonym: "Exfoliative Syndrome" EXACT [] synonym: "exfoliative syndromes" EXACT [] synonym: "Glaucoma Capsulare" EXACT [] synonym: "LOXL1-RELATED CONDITION" EXACT [] synonym: "PEXG" EXACT [] synonym: "PEXS" EXACT [] synonym: "PSEUDOEXFOLIATION GLAUCOMA" EXACT [] synonym: "Pseudoexfoliation Of The Lens" EXACT [] synonym: "pseudoexfoliation syndrome" EXACT [] synonym: "Pseudo Exfoliation Syndrome" EXACT [] synonym: "pseudo-exfoliation syndromes" EXACT [] synonym: "pseudoexfoliation syndromes" EXACT [] synonym: "XFG" EXACT [] synonym: "XFS" EXACT [] xref: EFO:0004235 xref: ICD9CM:365.52 xref: MESH:D017889 xref: NCI:C129025 is_a: DOID:12571 ! phacogenic glaucoma is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease [Term] id: DOID:13649 name: polyneuropathy in collagen vascular disease xref: ICD9CM:357.1 xref: MONDO:0001765 is_a: DOID:1389 ! polyneuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13651 name: eversion of lacrimal punctum xref: ICD10CM:H04.52 xref: ICD9CM:375.51 xref: MONDO:0001766 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13653 name: stenosis of lacrimal punctum xref: ICD10CM:H04.56 xref: ICD9CM:375.52 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13654 name: stenosis of lacrimal passage synonym: "stenosis of lacrimal canaliculi" EXACT [] xref: ICD10CM:H04.54 xref: ICD9CM:375.53 xref: MONDO:0001768 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13655 name: acquired tear duct stenosis synonym: "acquired nasolacrimal duct stenosis" EXACT [SNOMEDCT_2005_07_31:193995004] synonym: "Stenosis of nasolacrimal duct, acquired" EXACT [ICD9CM_2006:375.56] xref: ICD10CM:H04.55 xref: ICD9CM:375.56 xref: RDO:9004732 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13656 name: gastrin secretion abnormality xref: ICD9CM:251.5 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:13658 name: infective urethral stricture xref: ICD9CM:598.01 is_a: DOID:1829 ! urethral stricture [Term] id: DOID:13662 name: ulcer of anus and rectum def: "anal and rectal ulcer" [] synonym: "anal and rectal ulcer" EXACT [SNOMEDCT_2005_07_31:197227009] xref: ICD10CM:K62.6 xref: ICD9CM:569.41 is_a: DOID:1285 ! rectal disease [Term] id: DOID:13664 name: post-vaccinal encephalitis synonym: "encephalitis following immunization procedures" EXACT [] synonym: "post-vaccinal encephalitides" EXACT [] synonym: "postvaccinal encephalitis" EXACT [] synonym: "post-vaccinal encephalomyelitides" EXACT [] synonym: "post vaccinal encephalomyelitis" EXACT [] synonym: "postvaccinal encephalomyelitis" EXACT [] synonym: "vaccination encephalitis" EXACT [] xref: ICD10CM:G04.02 is_a: DOID:639 ! acute disseminated encephalomyelitis is_a: DOID:9588 ! encephalitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13676 name: posterior scleritis xref: ICD10CM:H15.03 xref: ICD9CM:379.07 is_a: DOID:13452 ! scleritis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13677 name: SAPHO syndrome def: "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8802951/ "DO"] synonym: "acquired hyperostosis syndrome" EXACT [] synonym: "Acquired Hyperostosis Syndromes" EXACT [] synonym: "SAPHO syndromes" EXACT [] synonym: "synovitis, acne, pustlosis, hyperostosis, and osteomyelitis" EXACT [] synonym: "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [] xref: EFO:1001164 xref: GARD:7606 xref: MESH:D020083 xref: NCI:C119049 xref: NCI:C84530 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:13687 name: chronic duodenal ileus xref: ICD9CM:537.2 is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:13689 name: prostate calculus synonym: "calculus of prostate" EXACT [] synonym: "prostatic lithiasis" EXACT [] synonym: "prostatic stone" EXACT [] synonym: "stone of prostate" EXACT [] xref: ICD10CM:N42.0 xref: ICD9CM:602.0 xref: MONDO:0001776 xref: NCI:C26936 is_a: DOID:47 ! prostate disease is_a: DOID:9590 ! lower urinary tract calculus created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13690 name: acute gonococcal cystitis def: "An acute cystitis that is caused by gonorrhea. (DO)" [https://www.aafp.org/pubs/afp/issues/2012/1115/p931.html "DO"] synonym: "acute gonorrhea of bladder" EXACT [] synonym: "gonococcal cystitis" EXACT [] xref: ICD9CM:098.11 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:13148 ! acute cystitis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:13691 name: dermoid cyst of skin def: "A dermoid cyst that is located_in the skin. (DO)" [PMID:23488469 "DO"] synonym: "skin dermoid" EXACT [] xref: NCI:C4632 is_a: DOID:2658 ! dermoid cyst is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:137 name: vaginal squamous papilloma def: "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6374 "DO"] synonym: "squamous papilloma of vagina" EXACT [] xref: MONDO:0001779 xref: NCI:C6374 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:13709 name: premature ejaculation def: "The emission of SEMEN and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [MESH:D061686] synonym: "Ejaculatio Praecox" EXACT [] synonym: "Premature Ejaculations" EXACT [] xref: ICD10CM:F52.4 xref: ICD9CM:302.75 xref: MESH:D061686 xref: MONDO:0001780 xref: NCI:C94349 is_a: DOID:10132 ! psychosexual disorder is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:1371 name: uterine corpus adenomatoid tumor def: "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/ "DO"] synonym: "uterine corpus adenomatoid tumour" EXACT [] synonym: "uterine corpus localised epithelial mesothelioma" EXACT [] synonym: "uterine corpus localized epithelial mesothelioma" EXACT [] xref: MONDO:0001781 xref: NCI:C27250 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:746 ! adenomatoid tumor created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:13711 name: dental fluorosis def: "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. (DO)" [PMID:21701193 "DO"] synonym: "Dental Fluoroses" EXACT [] synonym: "intrinsic enamel discolouration of fluorosis" EXACT [] synonym: "Mottled Enamel" EXACT [] synonym: "Mottled Enamels" EXACT [] synonym: "mottled teeth" EXACT [] synonym: "mottling of enamel" EXACT [] xref: EFO:1000892 xref: ICD10CM:K00.3 xref: ICD9CM:520.3 xref: MESH:D009050 xref: NCI:C85059 is_a: DOID:1091 ! tooth disease [Term] id: DOID:13714 name: anodontia def: "A tooth disease that is characterized by complete absence of permanent teeth. (DO)" [https://rarediseases.info.nih.gov/diseases/5818/index "DO"] synonym: "complete absence of teeth" EXACT [] synonym: "Developmental absence of tooth" EXACT [] synonym: "Hypodontia" EXACT [] synonym: "HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT" NARROW [] synonym: "Non-syndromic oligodontia" NARROW [] synonym: "PARTIAL CONGENITAL ABSENCE OF TEETH" NARROW [] synonym: "selective tooth agenesis with orofacial cleft" NARROW [] synonym: "selective tooth agenesis with or without orofacial cleft" EXACT [] synonym: "total anodontia of permanent and deciduous teeth" EXACT [] xref: GARD:5818 xref: ICD10CM:K00.0 xref: ICD9CM:520.0 xref: MESH:D000848 xref: MONDO:0008797 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:13717 name: mature cataract def: "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] synonym: "Total, mature senile cataract" EXACT [SNOMEDCT_2005_07_31:193590000] synonym: "Total or mature cataract" EXACT [ICD9CM_2006:366.17] xref: RDO:9004349 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13722 name: neuroschistosomiasis def: "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. (DO)" [https://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml "DO", https://wwwnc.cdc.gov/eid/article/12/9/06-0113_article "DO", PMID:16138195 "DO"] synonym: "central nervous system schistosomiasis" EXACT [] synonym: "Neuroschistosomiases" EXACT [] synonym: "Schistosomal Myelitis" EXACT [] synonym: "Schistosomal Myelopathies" EXACT [] synonym: "Schistosomal Myelopathy" EXACT [] synonym: "Schistosomal Myeloradiculopathies" EXACT [] synonym: "schistosomal myeloradiculopathy" EXACT [] xref: EFO:0007394 xref: MESH:D020818 is_a: DOID:1395 ! schistosomiasis is_a: DOID:319 ! spinal cord disease is_a: DOID:9000928 ! Central Nervous System Helminthiasis is_a: DOID:936 ! brain disease [Term] id: DOID:13724 name: scurvy def: "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. (DO)" [https://medlineplus.gov/ency/article/000355.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/ "DO"] synonym: "GULOP" NARROW [] synonym: "Hypoascorbemia" EXACT [] synonym: "inability to synthesize vitamin C" NARROW [] synonym: "L-GULONOLACTONE OXIDASE, NONFUNCTIONAL" NARROW [] synonym: "nonfunctional gulo" NARROW [] synonym: "Scorbutus" EXACT [] synonym: "scurvies" EXACT [] xref: EFO:1001169 xref: GARD:10406 xref: ICD10CM:E54 xref: MESH:D012614 xref: MIM:240400 xref: MONDO:0009412 xref: NCI:C35010 is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9003737 ! Ascorbic Acid Deficiency [Term] id: DOID:13725 name: beriberi def: "A thiamine deficiency disease that is characterized by being severe and chronic. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"] xref: EFO:1000837 xref: GARD:9948 xref: ICD10CM:E51.1 xref: ICD9CM:265.0 xref: MESH:D001602 xref: MONDO:0006676 is_a: DOID:0070313 ! thiamine deficiency disease [Term] id: DOID:1373 name: endometrial stromal nodule def: "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. (DO)" [http://www.pathologyoutlines.com/topic/uterusstromalnodule.html "DO", PMID:26221551 "DO"] xref: EFO:1000241 xref: ICDO:8930/0 xref: MONDO:0001783 xref: NCI:C4262 is_a: DOID:0060095 ! uterine benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:13730 name: malignant renovascular hypertension xref: RDO:9002849 is_a: DOID:10177 ! malignant hypertensive renal disease is_a: DOID:13731 ! malignant secondary hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13731 name: malignant secondary hypertension xref: ICD9CM:405.0 xref: RDO:9002855 is_a: DOID:10824 ! malignant hypertension is_a: DOID:11130 ! secondary hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13732 name: panophthalmitis def: "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." [MESH:D010202] synonym: "Panophthalmitides" EXACT [] xref: EFO:1001081 xref: ICD9CM:360.02 xref: MESH:D010202 is_a: DOID:13140 ! suppurative uveitis is_a: DOID:13452 ! scleritis is_a: DOID:9724 ! purulent endophthalmitis [Term] id: DOID:13736 name: uterine inflammatory disease def: "A uterine disease that is characterized by inflammation. (DO)" [PMID:25153777 "DO"] synonym: "inflammatory disease of the uterus" EXACT [] xref: EFO:0009572 xref: ICD10CM:N71.9 xref: ICD9CM:615.9 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:345 ! uterine disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13738 name: hepatic infarction synonym: "hepatic infarct" EXACT [] synonym: "infarct of liver" EXACT [] synonym: "liver infarct" EXACT [] synonym: "liver infarction" EXACT [] xref: ICD10CM:K76.3 xref: ICD9CM:573.4 xref: MESH:D000081011 is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9005600 ! Infarction created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13739 name: nutmeg liver synonym: "chronic passive congestion of liver" EXACT [] xref: ICD10CM:K76.1 xref: ICD9CM:573.0 xref: RDO:9002803 is_a: DOID:272 ! hepatic vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13742 name: neurofibroma of spinal cord synonym: "SPINAL NEUROFIBROMA" EXACT [] xref: NCI:C5145 is_a: DOID:5612 ! spinal cancer is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13743 name: spinal cord lipoma def: "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. (DO)" [http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles "DO"] synonym: "lipoma of spinal cord" EXACT [] xref: NCI:C4619 is_a: DOID:6293 ! central nervous system lipoma is_a: DOID:9006391 ! Spinal Cord Neoplasms created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1375 name: neonatal urinary tract infectious disease synonym: "urinary tract infection of newborn" EXACT [] xref: ICD10CM:P39.3 xref: ICD9CM:771.82 is_a: DOID:18 ! urina